uniprot_ac gene_symbol disease_id disease_name P00519 ABL1 H00001 B-cell acute lymphoblastic leukemia Q03164 KMT2A H00001 B-cell acute lymphoblastic leukemia P51825 AFF1 H00001 B-cell acute lymphoblastic leukemia P01106 MYC H00001 B-cell acute lymphoblastic leukemia Q01196 RUNX1 H00001 B-cell acute lymphoblastic leukemia Q03164 KMT2A H00002 T-cell acute lymphoblastic leukemia P01106 MYC H00002 T-cell acute lymphoblastic leukemia P46531 NOTCH1 H00002 T-cell acute lymphoblastic leukemia Q9Y6K1 DNMT3A H00003 Acute myeloid leukemia P41212 ETV6 H00003 Acute myeloid leukemia P36888 FLT3 H00003 Acute myeloid leukemia O60674 JAK2 H00003 Acute myeloid leukemia P10721 KIT H00003 Acute myeloid leukemia P01116 KRAS H00003 Acute myeloid leukemia P06748 NPM1 H00003 Acute myeloid leukemia P01111 NRAS H00003 Acute myeloid leukemia O14746 TERT H00003 Acute myeloid leukemia Q01196 RUNX1 H00003 Acute myeloid leukemia Q13951 CBFB H00003 Acute myeloid leukemia P00519 ABL1 H00004 Chronic myeloid leukemia P06400 RB1 H00004 Chronic myeloid leukemia P11274 BCR H00004 Chronic myeloid leukemia P04637 TP53 H00004 Chronic myeloid leukemia Q01196 RUNX1 H00004 Chronic myeloid leukemia Q13315 ATM H00005 Chronic lymphocytic leukemia P10415 BCL2 H00005 Chronic lymphocytic leukemia P04637 TP53 H00005 Chronic lymphocytic leukemia P24385 CCND1 H00006 Hairy cell leukemia P41182 BCL6 H00006 Hairy cell leukemia P04637 TP53 H00006 Hairy cell leukemia P25963 NFKBIA H00007 Hodgkin lymphoma P01106 MYC H00008 Burkitt lymphoma P04637 TP53 H00008 Burkitt lymphoma P04637 TP53 H00009 Adult T-cell leukemia P22607 FGFR3 H00010 Multiple myeloma P01116 KRAS H00010 Multiple myeloma P01106 MYC H00010 Multiple myeloma P01111 NRAS H00010 Multiple myeloma P24385 CCND1 H00010 Multiple myeloma P04637 TP53 H00010 Multiple myeloma O96028 NSD2 H00010 Multiple myeloma P30281 CCND3 H00010 Multiple myeloma O60674 JAK2 H00012 Polycythemia vera P01106 MYC H00013 Small cell lung cancer P06400 RB1 H00013 Small cell lung cancer P10415 BCL2 H00013 Small cell lung cancer P04637 TP53 H00013 Small cell lung cancer P00533 EGFR H00014 Non-small cell lung cancer Q9UM73 ALK H00014 Non-small cell lung cancer P01116 KRAS H00014 Non-small cell lung cancer P08581 MET H00014 Non-small cell lung cancer P42336 PIK3CA H00014 Non-small cell lung cancer P10826 RARB H00014 Non-small cell lung cancer P07949 RET H00014 Non-small cell lung cancer P08922 ROS1 H00014 Non-small cell lung cancer P15056 BRAF H00014 Non-small cell lung cancer P04637 TP53 H00014 Non-small cell lung cancer P08069 IGF1R H00015 Malignant pleural mesothelioma P04085 PDGFA H00015 Malignant pleural mesothelioma P01127 PDGFB H00015 Malignant pleural mesothelioma P04637 TP53 H00015 Malignant pleural mesothelioma P00533 EGFR H00016 Oral cancer P01116 KRAS H00016 Oral cancer P01106 MYC H00016 Oral cancer P01111 NRAS H00016 Oral cancer P24385 CCND1 H00016 Oral cancer P40763 STAT3 H00016 Oral cancer P04637 TP53 H00016 Oral cancer P00533 EGFR H00017 Esophageal cancer P25054 APC H00017 Esophageal cancer P35228 NOS2 H00017 Esophageal cancer P35354 PTGS2 H00017 Esophageal cancer P06400 RB1 H00017 Esophageal cancer P24385 CCND1 H00017 Esophageal cancer P37173 TGFBR2 H00017 Esophageal cancer P04637 TP53 H00017 Esophageal cancer P35222 CTNNB1 H00018 Gastric cancer P04626 ERBB2 H00018 Gastric cancer P21802 FGFR2 H00018 Gastric cancer P25054 APC H00018 Gastric cancer P01116 KRAS H00018 Gastric cancer P08581 MET H00018 Gastric cancer P01111 NRAS H00018 Gastric cancer P42336 PIK3CA H00018 Gastric cancer P10826 RARB H00018 Gastric cancer O14746 TERT H00018 Gastric cancer P36897 TGFBR1 H00018 Gastric cancer P04637 TP53 H00018 Gastric cancer Q92851 CASP10 H00018 Gastric cancer P24864 CCNE1 H00018 Gastric cancer P04626 ERBB2 H00019 Pancreatic cancer P01116 KRAS H00019 Pancreatic cancer Q15831 STK11 H00019 Pancreatic cancer P04637 TP53 H00019 Pancreatic cancer P36896 ACVR1B H00019 Pancreatic cancer O96017 CHEK2 H00020 Colorectal cancer P35222 CTNNB1 H00020 Colorectal cancer Q09472 EP300 H00020 Colorectal cancer P31749 AKT1 H00020 Colorectal cancer P22607 FGFR3 H00020 Colorectal cancer P52701 MSH6 H00020 Colorectal cancer P25054 APC H00020 Colorectal cancer P15514 AREG H00020 Colorectal cancer P01116 KRAS H00020 Colorectal cancer Q15796 SMAD2 H00020 Colorectal cancer P43246 MSH2 H00020 Colorectal cancer P42336 PIK3CA H00020 Colorectal cancer Q05209 PTPN12 H00020 Colorectal cancer Q07812 BAX H00020 Colorectal cancer P24385 CCND1 H00020 Colorectal cancer P12931 SRC H00020 Colorectal cancer P15056 BRAF H00020 Colorectal cancer O14965 AURKA H00020 Colorectal cancer O43683 BUB1 H00020 Colorectal cancer P37173 TGFBR2 H00020 Colorectal cancer P04637 TP53 H00020 Colorectal cancer P08581 MET H00021 Renal cell carcinoma Q86U86 PBRM1 H00021 Renal cell carcinoma P40337 VHL H00021 Renal cell carcinoma P53355 DAPK1 H00022 Bladder cancer P00533 EGFR H00022 Bladder cancer P04626 ERBB2 H00022 Bladder cancer P22607 FGFR3 H00022 Bladder cancer P01112 HRAS H00022 Bladder cancer P01116 KRAS H00022 Bladder cancer P06400 RB1 H00022 Bladder cancer P04637 TP53 H00022 Bladder cancer P22607 FGFR3 H00023 Testicular cancer P10721 KIT H00023 Testicular cancer Q15831 STK11 H00023 Testicular cancer P30279 CCND2 H00023 Testicular cancer P11308 ERG H00024 Prostate cancer P09211 GSTP1 H00024 Prostate cancer P10275 AR H00024 Prostate cancer P01112 HRAS H00025 Penile cancer Q00987 MDM2 H00025 Penile cancer P08253 MMP2 H00025 Penile cancer P14780 MMP9 H00025 Penile cancer P01106 MYC H00025 Penile cancer P35354 PTGS2 H00025 Penile cancer P04637 TP53 H00025 Penile cancer Q9H7Z7 PTGES2 H00025 Penile cancer P35222 CTNNB1 H00026 Endometrial cancer P04626 ERBB2 H00026 Endometrial cancer P01116 KRAS H00026 Endometrial cancer P04637 TP53 H00026 Endometrial cancer P35222 CTNNB1 H00027 Ovarian cancer P04626 ERBB2 H00027 Ovarian cancer P31749 AKT1 H00027 Ovarian cancer P31751 AKT2 H00027 Ovarian cancer P01116 KRAS H00027 Ovarian cancer P43246 MSH2 H00027 Ovarian cancer P01106 MYC H00027 Ovarian cancer Q14982 OPCML H00027 Ovarian cancer P42336 PIK3CA H00027 Ovarian cancer P04637 TP53 H00027 Ovarian cancer P07333 CSF1R H00028 Choriocarcinoma P00533 EGFR H00028 Choriocarcinoma P04626 ERBB2 H00028 Choriocarcinoma Q00987 MDM2 H00028 Choriocarcinoma P03956 MMP1 H00028 Choriocarcinoma P08253 MMP2 H00028 Choriocarcinoma P01106 MYC H00028 Choriocarcinoma P10415 BCL2 H00028 Choriocarcinoma P04637 TP53 H00028 Choriocarcinoma P04637 TP53 H00029 Vulvar cancer P11802 CDK4 H00030 Cervical cancer P38936 CDKN1A H00030 Cervical cancer P00533 EGFR H00030 Cervical cancer P04626 ERBB2 H00030 Cervical cancer P01112 HRAS H00030 Cervical cancer P01116 KRAS H00030 Cervical cancer P10415 BCL2 H00030 Cervical cancer P00533 EGFR H00031 Breast cancer P04626 ERBB2 H00031 Breast cancer P03372 ESR1 H00031 Breast cancer P11362 FGFR1 H00031 Breast cancer P10721 KIT H00031 Breast cancer O75581 LRP6 H00031 Breast cancer P16083 NQO2 H00031 Breast cancer P46531 NOTCH1 H00031 Breast cancer Q99466 NOTCH4 H00031 Breast cancer P06401 PGR H00031 Breast cancer P42336 PIK3CA H00031 Breast cancer Q99728 BARD1 H00031 Breast cancer Q06609 RAD51 H00031 Breast cancer P24385 CCND1 H00031 Breast cancer P04637 TP53 H00031 Breast cancer O75084 FZD7 H00031 Breast cancer Q9BX63 BRIP1 H00031 Breast cancer P35222 CTNNB1 H00032 Thyroid cancer P01112 HRAS H00032 Thyroid cancer P01116 KRAS H00032 Thyroid cancer P01111 NRAS H00032 Thyroid cancer P04629 NTRK1 H00032 Thyroid cancer P37231 PPARG H00032 Thyroid cancer P07949 RET H00032 Thyroid cancer P15056 BRAF H00032 Thyroid cancer P04637 TP53 H00032 Thyroid cancer Q16204 CCDC6 H00032 Thyroid cancer Q13772 NCOA4 H00032 Thyroid cancer P04899 GNAI2 H00033 Adrenal carcinoma Q01718 MC2R H00033 Adrenal carcinoma O00255 MEN1 H00033 Adrenal carcinoma P01111 NRAS H00033 Adrenal carcinoma P04637 TP53 H00033 Adrenal carcinoma O00255 MEN1 H00034 Carcinoid P11308 ERG H00035 Ewing sarcoma Q01844 EWSR1 H00035 Ewing sarcoma Q01543 FLI1 H00035 Ewing sarcoma O96017 CHEK2 H00036 Osteosarcoma Q00987 MDM2 H00036 Osteosarcoma P01106 MYC H00036 Osteosarcoma P06400 RB1 H00036 Osteosarcoma P04637 TP53 H00036 Osteosarcoma Q00987 MDM2 H00037 Rhabdomyosarcoma P11802 CDK4 H00038 Melanoma Q01726 MC1R H00038 Melanoma P01111 NRAS H00038 Melanoma P15056 BRAF H00038 Melanoma Q15831 STK11 H00038 Melanoma O14746 TERT H00038 Melanoma P04637 TP53 H00038 Melanoma Q99835 SMO H00039 Basal cell carcinoma P04637 TP53 H00039 Basal cell carcinoma P01112 HRAS H00040 Squamous cell carcinoma P01116 KRAS H00040 Squamous cell carcinoma P04637 TP53 H00040 Squamous cell carcinoma P01116 KRAS H00041 Kaposi sarcoma P01106 MYC H00041 Kaposi sarcoma P10415 BCL2 H00041 Kaposi sarcoma P04637 TP53 H00041 Kaposi sarcoma P11802 CDK4 H00042 Glioma P00533 EGFR H00042 Glioma P04626 ERBB2 H00042 Glioma O75874 IDH1 H00042 Glioma Q00987 MDM2 H00042 Glioma P04085 PDGFA H00042 Glioma P01127 PDGFB H00042 Glioma P16234 PDGFRA H00042 Glioma P09619 PDGFRB H00042 Glioma P06400 RB1 H00042 Glioma P04637 TP53 H00042 Glioma Q9UM73 ALK H00043 Neuroblastoma P04629 NTRK1 H00043 Neuroblastoma Q16620 NTRK2 H00043 Neuroblastoma Q16288 NTRK3 H00043 Neuroblastoma P25054 APC H00044 Cancer of the anal canal P04637 TP53 H00044 Cancer of the anal canal O00255 MEN1 H00045 Pancreatic neuroendocrine tumor P04626 ERBB2 H00046 Cholangiocarcinoma P01116 KRAS H00046 Cholangiocarcinoma P08581 MET H00046 Cholangiocarcinoma P35354 PTGS2 H00046 Cholangiocarcinoma P04637 TP53 H00046 Cholangiocarcinoma P25054 APC H00047 Gallbladder cancer P01116 KRAS H00047 Gallbladder cancer P04637 TP53 H00047 Gallbladder cancer P35222 CTNNB1 H00048 Hepatocellular carcinoma P14210 HGF H00048 Hepatocellular carcinoma P08069 IGF1R H00048 Hepatocellular carcinoma P11717 IGF2R H00048 Hepatocellular carcinoma P08581 MET H00048 Hepatocellular carcinoma P01106 MYC H00048 Hepatocellular carcinoma Q16236 NFE2L2 H00048 Hepatocellular carcinoma P42336 PIK3CA H00048 Hepatocellular carcinoma P06400 RB1 H00048 Hepatocellular carcinoma O14746 TERT H00048 Hepatocellular carcinoma P37173 TGFBR2 H00048 Hepatocellular carcinoma P04637 TP53 H00048 Hepatocellular carcinoma O75084 FZD7 H00048 Hepatocellular carcinoma Q14790 CASP8 H00048 Hepatocellular carcinoma Q14145 KEAP1 H00048 Hepatocellular carcinoma P08069 IGF1R H00050 Synovial sarcoma P18846 ATF1 H00052 Clear cell sarcoma of soft tissue Q92570 NR4A3 H00053 Extraskeletal myxoid chondrosarcoma Q92804 TAF15 H00053 Extraskeletal myxoid chondrosarcoma P24530 EDNRB H00054 Nasopharyngeal cancer Q04912 MST1R H00054 Nasopharyngeal cancer P10415 BCL2 H00054 Nasopharyngeal cancer P00533 EGFR H00055 Laryngeal cancer P01106 MYC H00055 Laryngeal cancer P24385 CCND1 H00055 Laryngeal cancer P04637 TP53 H00055 Laryngeal cancer P24864 CCNE1 H00055 Laryngeal cancer O96020 CCNE2 H00055 Laryngeal cancer O14672 ADAM10 H00056 Alzheimer disease P05067 APP H00056 Alzheimer disease P49768 PSEN1 H00056 Alzheimer disease P49810 PSEN2 H00056 Alzheimer disease Q99497 PARK7 H00057 Parkinson disease Q5S007 LRRK2 H00057 Parkinson disease Q04637 EIF4G1 H00057 Parkinson disease O43464 HTRA2 H00057 Parkinson disease P10636 MAPT H00057 Parkinson disease Q15257 PTPA H00057 Parkinson disease Q96QK1 VPS35 H00057 Parkinson disease Q9BXM7 PINK1 H00057 Parkinson disease P37840 SNCA H00057 Parkinson disease P09936 UCHL1 H00057 Parkinson disease O60733 PLA2G6 H00057 Parkinson disease Q99720 SIGMAR1 H00058 Amyotrophic lateral sclerosis (ALS) O15269 SPTLC1 H00058 Amyotrophic lateral sclerosis (ALS) Q14203 DCTN1 H00058 Amyotrophic lateral sclerosis (ALS) Q15303 ERBB4 H00058 Amyotrophic lateral sclerosis (ALS) Q13148 TARDBP H00058 Amyotrophic lateral sclerosis (ALS) P35637 FUS H00058 Amyotrophic lateral sclerosis (ALS) P09651 HNRNPA1 H00058 Amyotrophic lateral sclerosis (ALS) P10636 MAPT H00058 Amyotrophic lateral sclerosis (ALS) Q96PY6 NEK1 H00058 Amyotrophic lateral sclerosis (ALS) P41219 PRPH H00058 Amyotrophic lateral sclerosis (ALS) P31483 TIA1 H00058 Amyotrophic lateral sclerosis (ALS) P68366 TUBA4A H00058 Amyotrophic lateral sclerosis (ALS) Q96JI7 SPG11 H00058 Amyotrophic lateral sclerosis (ALS) O95292 VAPB H00058 Amyotrophic lateral sclerosis (ALS) P43243 MATR3 H00058 Amyotrophic lateral sclerosis (ALS) P42858 HTT H00059 Huntington disease P04156 PRNP H00061 Prion disease P10275 AR H00062 Spinal and bulbar muscular atrophy (SBMA) Q9UNE7 STUB1 H00063 Spinocerebellar ataxia (SCA) Q9Y4W6 AFG3L2 H00063 Spinocerebellar ataxia (SCA) Q6IQ55 TTBK2 H00063 Spinocerebellar ataxia (SCA) Q9UBB4 ATXN10 H00063 Spinocerebellar ataxia (SCA) Q13255 GRM1 H00063 Spinocerebellar ataxia (SCA) O95932 TGM6 H00063 Spinocerebellar ataxia (SCA) Q14643 ITPR1 H00063 Spinocerebellar ataxia (SCA) Q14003 KCNC3 H00063 Spinocerebellar ataxia (SCA) Q9UK17 KCND3 H00063 Spinocerebellar ataxia (SCA) P08473 MME H00063 Spinocerebellar ataxia (SCA) P01213 PDYN H00063 Spinocerebellar ataxia (SCA) P05129 PRKCG H00063 Spinocerebellar ataxia (SCA) Q99700 ATXN2 H00063 Spinocerebellar ataxia (SCA) Q13507 TRPC3 H00063 Spinocerebellar ataxia (SCA) O00555 CACNA1A H00063 Spinocerebellar ataxia (SCA) O43497 CACNA1G H00063 Spinocerebellar ataxia (SCA) Q13315 ATM H00064 Ataxia telangiectasia Q5S007 LRRK2 H00066 Lewy body dementia (LBD) P04062 GBA1 H00066 Lewy body dementia (LBD) P37840 SNCA H00066 Lewy body dementia (LBD) P00846 MT-ATP6 H00068 Leber hereditary optic atrophy P00395 MT-CO1 H00068 Leber hereditary optic atrophy P00156 MT-CYB H00068 Leber hereditary optic atrophy P03886 MT-ND1 H00068 Leber hereditary optic atrophy P03891 MT-ND2 H00068 Leber hereditary optic atrophy P03905 MT-ND4 H00068 Leber hereditary optic atrophy P03901 MT-ND4L H00068 Leber hereditary optic atrophy P03915 MT-ND5 H00068 Leber hereditary optic atrophy P03923 MT-ND6 H00068 Leber hereditary optic atrophy P04075 ALDOA H00069 Glycogen storage disease O43826 SLC37A4 H00069 Glycogen storage disease P10253 GAA H00069 Glycogen storage disease P00338 LDHA H00069 Glycogen storage disease V9HWB9 HEL-S-133P H00069 Glycogen storage disease Q9UGJ0 PRKAG2 H00069 Glycogen storage disease P46020 PHKA1 H00069 Glycogen storage disease P46019 PHKA2 H00069 Glycogen storage disease Q93100 PHKB H00069 Glycogen storage disease P15735 PHKG2 H00069 Glycogen storage disease P06737 PYGL H00069 Glycogen storage disease P11217 PYGM H00069 Glycogen storage disease P11168 SLC2A2 H00069 Glycogen storage disease Q14376 GALE H00070 Galactosemia P51570 GALK1 H00070 Galactosemia P10515 DLAT H00072 Pyruvate dehydrogenase complex deficiency P08559 PDHA1 H00072 Pyruvate dehydrogenase complex deficiency O00330 PDHX H00072 Pyruvate dehydrogenase complex deficiency Q92889 ERCC4 H00076 Cockayne syndrome P28715 ERCC5 H00076 Cockayne syndrome P10636 MAPT H00077 Progressive supranuclear palsy P28799 GRN H00078 Frontotemporal lobar degeneration P10636 MAPT H00078 Frontotemporal lobar degeneration P49768 PSEN1 H00078 Frontotemporal lobar degeneration P36222 CHI3L1 H00079 Asthma Q9Y616 IRAK3 H00079 Asthma P07550 ADRB2 H00079 Asthma P09917 ALOX5 H00079 Asthma P01911 HLA-DRB1 H00079 Asthma P05112 IL4 H00079 Asthma P35225 IL13 H00079 Asthma Q13258 PTGDR H00079 Asthma P01375 TNF H00079 Asthma Q13093 PLA2G7 H00079 Asthma Q9BZ11 ADAM33 H00079 Asthma P08571 CD14 H00079 Asthma Q9NSU2 TREX1 H00080 Systemic lupus erythematosus Q9Y2R2 PTPN22 H00080 Systemic lupus erythematosus P01911 HLA-DRB1 H00080 Systemic lupus erythematosus Q9NYK1 TLR7 H00080 Systemic lupus erythematosus Q14765 STAT4 H00080 Systemic lupus erythematosus P01375 TNF H00080 Systemic lupus erythematosus P12821 ACE H00083 Allograft rejection P05362 ICAM1 H00083 Allograft rejection P05106 ITGB3 H00083 Allograft rejection P01137 TGFB1 H00083 Allograft rejection P61812 TGFB2 H00083 Allograft rejection P01375 TNF H00083 Allograft rejection P18510 IL1RN H00084 Graft-versus-host disease P60568 IL2 H00084 Graft-versus-host disease P05231 IL6 H00084 Graft-versus-host disease P35225 IL13 H00084 Graft-versus-host disease P01137 TGFB1 H00084 Graft-versus-host disease P61812 TGFB2 H00084 Graft-versus-host disease P01375 TNF H00084 Graft-versus-host disease P20333 TNFRSF1B H00084 Graft-versus-host disease P27986 PIK3R1 H00085 Agammaglobulinemias Q06187 BTK H00085 Agammaglobulinemias Q92504 SLC39A7 H00085 Agammaglobulinemias P40259 CD79B H00085 Agammaglobulinemias P25942 CD40 H00086 Immunodeficiency with hyper-IgM P29965 CD40LG H00086 Immunodeficiency with hyper-IgM Q9UBC3 DNMT3B H00087 Other humoral immunodeficiencies P61619 SEC61A1 H00088 Common variable immunodeficiency Q7Z5L9 IRF2BP2 H00088 Common variable immunodeficiency P19838 NFKB1 H00088 Common variable immunodeficiency Q00653 NFKB2 H00088 Common variable immunodeficiency Q9HBE4 IL21 H00088 Common variable immunodeficiency P50851 LRBA H00088 Common variable immunodeficiency P04839 CYBB H00089 IFN-gamma/IL-12 axis P15260 IFNGR1 H00089 IFN-gamma/IL-12 axis P51449 RORC H00089 IFN-gamma/IL-12 axis P42224 STAT1 H00089 IFN-gamma/IL-12 axis Q9Y6K9 IKBKG H00089 IFN-gamma/IL-12 axis Q15054 POLD3 H00091 T-B+Severe combined immunodeficiency P31146 CORO1A H00091 T-B+Severe combined immunodeficiency P52333 JAK3 H00091 T-B+Severe combined immunodeficiency P08575 PTPRC H00091 T-B+Severe combined immunodeficiency P00813 ADA H00092 T-B-Severe combined immunodeficiency P54819 AK2 H00092 T-B-Severe combined immunodeficiency P00491 PNP H00092 T-B-Severe combined immunodeficiency P78527 PRKDC H00092 T-B-Severe combined immunodeficiency P40306 PSMB10 H00092 T-B-Severe combined immunodeficiency O15143 ARPC1B H00093 Combined immunodeficiency Q9Y4L1 HYOU1 H00093 Combined immunodeficiency Q9UDY8 MALT1 H00093 Combined immunodeficiency P17812 CTPS1 H00093 Combined immunodeficiency Q9Y678 COPG1 H00093 Combined immunodeficiency O14920 IKBKB H00093 Combined immunodeficiency Q14573 ITPR3 H00093 Combined immunodeficiency P06239 LCK H00093 Combined immunodeficiency P26038 MSN H00093 Combined immunodeficiency P48736 PIK3CG H00093 Combined immunodeficiency Q13586 STIM1 H00093 Combined immunodeficiency Q13043 STK4 H00093 Combined immunodeficiency P43403 ZAP70 H00093 Combined immunodeficiency Q96D31 ORAI1 H00093 Combined immunodeficiency Q99558 MAP3K14 H00093 Combined immunodeficiency P18858 LIG1 H00094 Immunodeficiency associated with DNA repair defects P33991 MCM4 H00094 Immunodeficiency associated with DNA repair defects Q13315 ATM H00094 Immunodeficiency associated with DNA repair defects P25963 NFKBIA H00095 Ectodermal dysplasia and immunodeficiency Q9Y6K9 IKBKG H00095 Ectodermal dysplasia and immunodeficiency Q9NWZ3 IRAK4 H00096 Defects of toll-like receptor signaling Q9NYK1 TLR7 H00096 Defects of toll-like receptor signaling Q9NR97 TLR8 H00096 Defects of toll-like receptor signaling P25025 CXCR2 H00097 WHIM syndrome P61073 CXCR4 H00097 WHIM syndrome P04839 CYBB H00098 Chronic granulomatous disease P14598 NCF1 H00098 Chronic granulomatous disease P05107 ITGB2 H00099 Leukocyte adhesion deficiency P08246 ELANE H00100 Neutropenic disorders P61619 SEC61A1 H00100 Neutropenic disorders Q9UHB9 SRP68 H00100 Neutropenic disorders P09871 C1S H00102 Classic complement pathway component defects P01031 C5 H00103 Late complement pathway defects P02748 C9 H00103 Late complement pathway defects P00746 CFD H00104 Alternative complement pathway component defects P00751 CFB H00104 Alternative complement pathway component defects O00187 MASP2 H00105 Mannose-binding lectin pathway component defects P13987 CD59 H00106 Complement regulatory protein defects P98170 XIAP H00107 Other well-defined immunodeficiency syndromes Q08881 ITK H00107 Other well-defined immunodeficiency syndromes P40763 STAT3 H00107 Other well-defined immunodeficiency syndromes P29597 TYK2 H00107 Other well-defined immunodeficiency syndromes P01116 KRAS H00108 Autoimmune lymphoproliferative syndromes P01111 NRAS H00108 Autoimmune lymphoproliferative syndromes Q05655 PRKCD H00108 Autoimmune lymphoproliferative syndromes Q14790 CASP8 H00108 Autoimmune lymphoproliferative syndromes Q92851 CASP10 H00108 Autoimmune lymphoproliferative syndromes P09467 FBP1 H00114 Fructose-1,6-bisphosphatase deficiency P14410 SI H00115 Congenital sucrase-isomaltase deficiency P21549 AGXT H00117 Primary hyperoxaluria Q92685 ALG3 H00118 Congenital disorders of glycosylation type I P39656 DDOST H00118 Congenital disorders of glycosylation type I Q8TCJ2 STT3B H00118 Congenital disorders of glycosylation type I P46977 STT3A H00118 Congenital disorders of glycosylation type I P34949 MPI H00118 Congenital disorders of glycosylation type I O15305 PMM2 H00118 Congenital disorders of glycosylation type I Q9BT22 ALG1 H00118 Congenital disorders of glycosylation type I Q9BVK2 ALG8 H00118 Congenital disorders of glycosylation type I Q9H0U3 MAGT1 H00118 Congenital disorders of glycosylation type I O75352 MPDU1 H00118 Congenital disorders of glycosylation type I O43826 SLC37A4 H00119 Congenital disorders of glycosylation type II Q9H9E3 COG4 H00119 Congenital disorders of glycosylation type II Q10469 MGAT2 H00119 Congenital disorders of glycosylation type II Q15904 ATP6AP1 H00119 Congenital disorders of glycosylation type II Q9HC07 TMEM165 H00119 Congenital disorders of glycosylation type II Q9NYU2 UGGT1 H00119 Congenital disorders of glycosylation type II Q9Y2V7 COG6 H00119 Congenital disorders of glycosylation type II Q96MW5 COG8 H00119 Congenital disorders of glycosylation type II P83436 COG7 H00119 Congenital disorders of glycosylation type II Q8WTW3 COG1 H00119 Congenital disorders of glycosylation type II P16278 GLB1 H00123 Mucopolysaccharidosis type IV P06865 HEXA H00124 GM2 gangliosidoses P07686 HEXB H00124 GM2 gangliosidoses P06280 GLA H00125 Fabry disease P04062 GBA1 H00126 Gaucher disease P08236 GUSB H00132 Mucopolysaccharidosis type VII P08842 STS H00134 X-linked ichthyosis Q13510 ASAH1 H00138 Farber lipogranulomatosis O00754 MAN2B1 H00139 alpha-Mannosidosis P04066 FUCA1 H00141 Fucosidosis P07339 CTSD H00149 Neuronal ceroid lipofuscinosis P28799 GRN H00149 Neuronal ceroid lipofuscinosis Q9UBX1 CTSF H00149 Neuronal ceroid lipofuscinosis P13473 LAMP2 H00150 Danon disease P06858 LPL H00153 Familial combined hyperlipidemia P06858 LPL H00154 Hyperlipoproteinemia, type I P34913 EPHX2 H00155 Familial hypercholesterolemia Q8NBP7 PCSK9 H00155 Familial hypercholesterolemia P04114 APOB H00155 Familial hypercholesterolemia P01130 LDLR H00155 Familial hypercholesterolemia P55157 MTTP H00160 Abetalipoproteinemia Q9UBM7 DHCR7 H00161 Smith-Lemli-Opitz syndrome P31327 CPS1 H00164 Carbamoyl phosphate synthetase I deficiency P16930 FAH H00165 Tyrosinemia P32754 HPD H00165 Tyrosinemia O00203 AP3B1 H00166 Hermansky-Pudlak syndrome O14617 AP3D1 H00166 Hermansky-Pudlak syndrome Q01726 MC1R H00168 Oculocutaneous albinism P14679 TYR H00168 Oculocutaneous albinism P10721 KIT H00170 Piebaldism Q96EY8 MMAB H00174 Methylmalonic aciduria P05165 PCCA H00175 Propionic acidemia P56589 PEX3 H00177 Neonatal adrenoleukodystrophy P13804 ETFA H00178 Glutaric acidemia P38117 ETFB H00178 Glutaric acidemia Q92947 GCDH H00178 Glutaric acidemia P50747 HLCS H00180 Holocarboxylase synthetase deficiency Q9HCC0 MCCC2 H00181 3-Methylcrotonylglycinuria P32929 CTH H00182 Cystathioninuria Q99707 MTR H00183 Homocystinuria P35520 CBS H00183 Homocystinuria P55263 ADK H00184 Hypermethioninemia P23526 AHCY H00184 Hypermethioninemia Q00266 MAT1A H00184 Hypermethioninemia P00966 ASS1 H00185 Citrullinemia P05089 ARG1 H00186 Hyperargininemia P47989 XDH H00192 Xanthinuria P00492 HPRT1 H00194 Lesch-Nyhan syndrome P07741 APRT H00195 Adenine phosphoribosyltransferase deficiency P11172 UMPS H00198 Orotic aciduria P22830 FECH H00201 Erythropoietic porphyria P50336 PPOX H00202 Hepatic porphyria P04040 CAT H00203 Acatalasemia P56589 PEX3 H00205 Peroxisome biogenesis disorder O00116 AGPS H00207 Rhizomelic chondrodysplasia punctata Q9Y6L6 SLCO1B1 H00208 Hyperbilirubinemia Q92887 ABCC2 H00208 Hyperbilirubinemia Q9NPD5 SLCO1B3 H00208 Hyperbilirubinemia P22309 UGT1A1 H00208 Hyperbilirubinemia Q9NP59 SLC40A1 H00211 Hemochromatosis P81172 HAMP H00211 Hemochromatosis P05186 ALPL H00213 Hypophosphatasia P22413 ENPP1 H00214 Hypophosphatemic rickets P35499 SCN4A H00215 Periodic paralysis Q13698 CACNA1S H00215 Periodic paralysis P15538 CYP11B1 H00216 Congenital adrenal hyperplasia P05093 CYP17A1 H00216 Congenital adrenal hyperplasia P08686 CYP21A2 H00216 Congenital adrenal hyperplasia P13569 CFTR H00218 Cystic fibrosis P01137 TGFB1 H00218 Cystic fibrosis P00451 F8 H00219 Hemophilia P00740 F9 H00219 Hemophilia P12259 F5 H00220 Factor V deficiency P00734 F2 H00223 Inherited thrombophilia P12259 F5 H00223 Inherited thrombophilia P00451 F8 H00223 Inherited thrombophilia P00740 F9 H00223 Inherited thrombophilia P01008 SERPINC1 H00223 Inherited thrombophilia P04070 PROC H00223 Inherited thrombophilia P08514 ITGA2B H00226 Glanzmann thrombasthenia P05106 ITGB3 H00226 Glanzmann thrombasthenia P68871 HBB H00228 Thalassemia P69891 HBG1 H00228 Thalassemia P68871 HBB H00229 Sickle cell disease P11171 EPB41 H00231 Hereditary elliptocytosis O15554 KCNN4 H00232 Hereditary stomatocytosis P11166 SLC2A1 H00232 Hereditary stomatocytosis P35579 MYH9 H00233 MYH9-related disease Q14739 LBR H00234 Pelger-Huet anomaly P68871 HBB H00235 Methemoglobinemia Q99814 EPAS1 H00236 Congenital polycythemia P68871 HBB H00236 Congenital polycythemia O60674 JAK2 H00236 Congenital polycythemia Q9GZT9 EGLN1 H00236 Congenital polycythemia P40337 VHL H00236 Congenital polycythemia P42766 RPL35 H00237 Diamond-Blackfan anemia P46777 RPL5 H00237 Diamond-Blackfan anemia P62913 RPL11 H00237 Diamond-Blackfan anemia P61313 RPL15 H00237 Diamond-Blackfan anemia P18621 RPL17 H00237 Diamond-Blackfan anemia Q07020 RPL18 H00237 Diamond-Blackfan anemia P61254 RPL26 H00237 Diamond-Blackfan anemia P61353 RPL27 H00237 Diamond-Blackfan anemia P18077 RPL35A H00237 Diamond-Blackfan anemia P62081 RPS7 H00237 Diamond-Blackfan anemia P46783 RPS10 H00237 Diamond-Blackfan anemia P62244 RPS15A H00237 Diamond-Blackfan anemia P08708 RPS17 H00237 Diamond-Blackfan anemia P39019 RPS19 H00237 Diamond-Blackfan anemia P62847 RPS24 H00237 Diamond-Blackfan anemia P62854 RPS26 H00237 Diamond-Blackfan anemia P42677 RPS27 H00237 Diamond-Blackfan anemia P62857 RPS28 H00237 Diamond-Blackfan anemia P62273 RPS29 H00237 Diamond-Blackfan anemia Q92889 ERCC4 H00238 Fanconi anemia Q06609 RAD51 H00238 Fanconi anemia Q9BX63 BRIP1 H00238 Fanconi anemia P48048 KCNJ1 H00239 Bartter syndrome P41180 CASR H00239 Bartter syndrome P00918 CA2 H00241 Osteopetrosis with renal tubular acidosis P37088 SCNN1A H00242 Liddle syndrome P51168 SCNN1B H00242 Liddle syndrome P51170 SCNN1G H00242 Liddle syndrome P08235 NR3C2 H00243 Renal tubular acidosis type 4 P37088 SCNN1A H00243 Renal tubular acidosis type 4 P51168 SCNN1B H00243 Renal tubular acidosis type 4 P51170 SCNN1G H00243 Renal tubular acidosis type 4 Q9H4A3 WNK1 H00243 Renal tubular acidosis type 4 Q96J92 WNK4 H00243 Renal tubular acidosis type 4 Q13618 CUL3 H00243 Renal tubular acidosis type 4 P41180 CASR H00245 Calcium sensing receptor (CASR) related disease O00255 MEN1 H00246 Primary hyperparathyroidism Q6P1J9 CDC73 H00246 Primary hyperparathyroidism P41180 CASR H00246 Primary hyperparathyroidism O00255 MEN1 H00247 Multiple endocrine neoplasia syndrome P07949 RET H00247 Multiple endocrine neoplasia syndrome P02768 ALB H00248 Analbuminemia P10828 THRB H00249 Thyroid hormone resistance syndrome P10827 THRA H00250 Congenital nongoitrous hypothyroidism (CHNG) P34981 TRHR H00250 Congenital nongoitrous hypothyroidism (CHNG) P16473 TSHR H00250 Congenital nongoitrous hypothyroidism (CHNG) Q6PHW0 IYD H00251 Thyroid dyshormonogenesis P07202 TPO H00251 Thyroid dyshormonogenesis P30518 AVPR2 H00252 Congenital nephrogenic diabetes insipidus Q02643 GHRHR H00254 Growth hormone deficiency Q92847 GHSR H00254 Growth hormone deficiency Q06187 BTK H00254 Growth hormone deficiency Q8NFJ6 PROKR2 H00255 Hypogonadotropic hypogonadism Q16828 DUSP6 H00255 Hypogonadotropic hypogonadism P11362 FGFR1 H00255 Hypogonadotropic hypogonadism P30968 GNRHR H00255 Hypogonadotropic hypogonadism Q9HC23 PROK2 H00255 Hypogonadotropic hypogonadism Q9UHF0 TAC3 H00255 Hypogonadotropic hypogonadism P29371 TACR3 H00255 Hypogonadotropic hypogonadism Q969F8 KISS1R H00255 Hypogonadotropic hypogonadism Q9NNW7 TXNRD2 H00256 Familial glucocorticoid deficiency Q13423 NNT H00256 Familial glucocorticoid deficiency Q01718 MC2R H00256 Familial glucocorticoid deficiency Q9NRG9 AAAS H00257 Achalasia Addisonianism Alacrima syndrome P19099 CYP11B2 H00258 Aldosterone synthase deficiency P80365 HSD11B2 H00259 Apparent mineralocorticoid excess syndrome Q9HCR9 PDE11A H00260 Pigmented micronodular adrenocortical disease P17612 PRKACA H00260 Pigmented micronodular adrenocortical disease O95263 PDE8B H00260 Pigmented micronodular adrenocortical disease P11586 MTHFD1 H00262 Neural tube defects, folate-sensitive Q99707 MTR H00262 Neural tube defects, folate-sensitive P12074 COX6A1 H00264 Charcot-Marie-Tooth disease P49588 AARS1 H00264 Charcot-Marie-Tooth disease P50570 DNM2 H00264 Charcot-Marie-Tooth disease P41250 GARS1 H00264 Charcot-Marie-Tooth disease P19367 HK1 H00264 Charcot-Marie-Tooth disease P04792 HSPB1 H00264 Charcot-Marie-Tooth disease Q14573 ITPR3 H00264 Charcot-Marie-Tooth disease Q15046 KARS1 H00264 Charcot-Marie-Tooth disease P02545 LMNA H00264 Charcot-Marie-Tooth disease P56192 MARS1 H00264 Charcot-Marie-Tooth disease P08473 MME H00264 Charcot-Marie-Tooth disease P05023 ATP1A1 H00264 Charcot-Marie-Tooth disease Q15120 PDK3 H00264 Charcot-Marie-Tooth disease Q9HBA0 TRPV4 H00264 Charcot-Marie-Tooth disease Q27J81 INF2 H00264 Charcot-Marie-Tooth disease Q15526 SURF1 H00264 Charcot-Marie-Tooth disease P55072 VCP H00264 Charcot-Marie-Tooth disease P51149 RAB7A H00264 Charcot-Marie-Tooth disease Q96JI7 SPG11 H00264 Charcot-Marie-Tooth disease P54577 YARS1 H00264 Charcot-Marie-Tooth disease O00764 PDXK H00264 Charcot-Marie-Tooth disease Q99732 LITAF H00264 Charcot-Marie-Tooth disease O15269 SPTLC1 H00265 Hereditary sensory and autonomic neuropathy Q9UI33 SCN11A H00265 Hereditary sensory and autonomic neuropathy P26358 DNMT1 H00265 Hereditary sensory and autonomic neuropathy Q6DD88 ATL3 H00265 Hereditary sensory and autonomic neuropathy P01138 NGF H00265 Hereditary sensory and autonomic neuropathy P04629 NTRK1 H00265 Hereditary sensory and autonomic neuropathy Q15858 SCN9A H00265 Hereditary sensory and autonomic neuropathy Q9H4A3 WNK1 H00265 Hereditary sensory and autonomic neuropathy O95163 ELP1 H00265 Hereditary sensory and autonomic neuropathy O15270 SPTLC2 H00265 Hereditary sensory and autonomic neuropathy O75477 ERLIN1 H00266 Hereditary spastic paraplegia Q9Y587 AP4S1 H00266 Hereditary spastic paraplegia Q7Z449 CYP2U1 H00266 Hereditary spastic paraplegia Q6XUX3 DSTYK H00266 Hereditary spastic paraplegia Q01433 AMPD2 H00266 Hereditary spastic paraplegia P10809 HSPD1 H00266 Hereditary spastic paraplegia O00505 KPNA3 H00266 Hereditary spastic paraplegia P32004 L1CAM H00266 Hereditary spastic paraplegia P56192 MARS1 H00266 Hereditary spastic paraplegia P42356 PI4KA H00266 Hereditary spastic paraplegia Q9HCG7 GBA2 H00266 Hereditary spastic paraplegia Q13813 SPTAN1 H00266 Hereditary spastic paraplegia P09936 UCHL1 H00266 Hereditary spastic paraplegia Q7L5A8 FA2H H00266 Hereditary spastic paraplegia O95870 ABHD16A H00266 Hereditary spastic paraplegia Q96JI7 SPG11 H00266 Hereditary spastic paraplegia P07384 CAPN1 H00266 Hereditary spastic paraplegia Q9C0D9 SELENOI H00266 Hereditary spastic paraplegia Q12768 WASHC5 H00266 Hereditary spastic paraplegia A5YKK6 CNOT1 H00267 Holoprosencephaly P10070 GLI2 H00267 Holoprosencephaly Q15465 SHH H00267 Holoprosencephaly Q00535 CDK5 H00268 Lissencephaly O43602 DCX H00268 Lissencephaly Q71U36 TUBA1A H00268 Lissencephaly P11802 CDK4 H00269 Primary microcephaly Q00534 CDK6 H00269 Primary microcephaly Q02224 CENPE H00269 Primary microcephaly O14578 CIT H00269 Primary microcephaly P42695 NCAPD3 H00269 Primary microcephaly Q15003 NCAPH H00269 Primary microcephaly P20700 LMNB1 H00269 Primary microcephaly O43683 BUB1 H00269 Primary microcephaly P35606 COPB2 H00269 Primary microcephaly Q15021 NCAPD2 H00269 Primary microcephaly P21333 FLNA H00270 Periventricular nodular heterotopia P46821 MAP1B H00270 Periventricular nodular heterotopia P42356 PI4KA H00271 Polymicrogyria P43235 CTSK H00273 Pycnodysostosis P53634 CTSC H00274 Papillon-Lefevre syndrome P10619 CTSA H00276 Galactosialidosis P16278 GLB1 H00281 GM1 gangliosidosis Q96P20 NLRP3 H00282 Cryopyrin associated periodic syndrome Q9HC29 NOD2 H00285 Blau syndrome P05231 IL6 H00286 Crohn disease Q9HC29 NOD2 H00286 Crohn disease P55265 ADAR H00290 Aicardi-Goutieres syndrome Q9NSU2 TREX1 H00290 Aicardi-Goutieres syndrome Q9Y3Z3 SAMHD1 H00290 Aicardi-Goutieres syndrome Q9NSU2 TREX1 H00291 Familial chilblain lupus (FCL) Q9Y3Z3 SAMHD1 H00291 Familial chilblain lupus (FCL) Q14896 MYBPC3 H00292 Hypertrophic cardiomyopathy Q9UGJ0 PRKAG2 H00292 Hypertrophic cardiomyopathy Q8WZ42 TTN H00292 Hypertrophic cardiomyopathy P18206 VCL H00292 Hypertrophic cardiomyopathy Q9H1R3 MYLK2 H00292 Hypertrophic cardiomyopathy P15924 DSP H00293 Arrhythmogenic right ventricular cardiomyopathy Q9BTV4 TMEM43 H00293 Arrhythmogenic right ventricular cardiomyopathy O60706 ABCC9 H00294 Dilated cardiomyopathy P01911 HLA-DRB1 H00294 Dilated cardiomyopathy P02545 LMNA H00294 Dilated cardiomyopathy O43681 GET3 H00294 Dilated cardiomyopathy Q14896 MYBPC3 H00294 Dilated cardiomyopathy P49768 PSEN1 H00294 Dilated cardiomyopathy P49810 PSEN2 H00294 Dilated cardiomyopathy P04049 RAF1 H00294 Dilated cardiomyopathy Q14524 SCN5A H00294 Dilated cardiomyopathy P31040 SDHA H00294 Dilated cardiomyopathy Q8WZ42 TTN H00294 Dilated cardiomyopathy P18206 VCL H00294 Dilated cardiomyopathy P46063 RECQL H00296 Defects in RecQ helicases Q9NNX6 CD209 H00342 Tuberculosis P01911 HLA-DRB1 H00342 Tuberculosis P15260 IFNGR1 H00342 Tuberculosis P13500 CCL2 H00342 Tuberculosis O60603 TLR2 H00342 Tuberculosis P11473 VDR H00342 Tuberculosis Q15399 TLR1 H00344 Leprosy O60603 TLR2 H00344 Leprosy P11413 G6PD H00361 Malaria P68871 HBB H00361 Malaria P05362 ICAM1 H00361 Malaria P35228 NOS2 H00361 Malaria P01375 TNF H00361 Malaria P49748 ACADVL H00392 VLCAD deficiency Q16531 DDB1 H00403 Disorders of nucleotide excision repair P07992 ERCC1 H00403 Disorders of nucleotide excision repair P18074 ERCC2 H00403 Disorders of nucleotide excision repair Q92889 ERCC4 H00403 Disorders of nucleotide excision repair P28715 ERCC5 H00403 Disorders of nucleotide excision repair Q9Y253 POLH H00403 Disorders of nucleotide excision repair P51659 HSD17B4 H00407 Peroxisomal beta-oxidation enzyme deficiency Q15067 ACOX1 H00407 Peroxisomal beta-oxidation enzyme deficiency P51681 CCR5 H00408 Type 1 diabetes mellitus P09668 CTSH H00408 Type 1 diabetes mellitus O15528 CYP27B1 H00408 Type 1 diabetes mellitus P21860 ERBB3 H00408 Type 1 diabetes mellitus Q9Y2R2 PTPN22 H00408 Type 1 diabetes mellitus P01911 HLA-DRB1 H00408 Type 1 diabetes mellitus P60568 IL2 H00408 Type 1 diabetes mellitus Q14573 ITPR3 H00408 Type 1 diabetes mellitus P17706 PTPN2 H00408 Type 1 diabetes mellitus Q9HBE4 IL21 H00408 Type 1 diabetes mellitus P31751 AKT2 H00409 Type 2 diabetes mellitus P35557 GCK H00409 Type 2 diabetes mellitus P41235 HNF4A H00409 Type 2 diabetes mellitus P35568 IRS1 H00409 Type 2 diabetes mellitus Q14654 KCNJ11 H00409 Type 2 diabetes mellitus P49286 MTNR1B H00409 Type 2 diabetes mellitus P22413 ENPP1 H00409 Type 2 diabetes mellitus P37231 PPARG H00409 Type 2 diabetes mellitus Q09428 ABCC8 H00409 Type 2 diabetes mellitus Q9NQB0 TCF7L2 H00409 Type 2 diabetes mellitus P35557 GCK H00410 Maturity onset diabetes of the young (MODY) P41235 HNF4A H00410 Maturity onset diabetes of the young (MODY) Q14654 KCNJ11 H00410 Maturity onset diabetes of the young (MODY) P51451 BLK H00410 Maturity onset diabetes of the young (MODY) Q09428 ABCC8 H00410 Maturity onset diabetes of the young (MODY) P15260 IFNGR1 H00412 Hepatitis B P51681 CCR5 H00413 Hepatitis C P08575 PTPRC H00413 Hepatitis C P49585 PCYT1A H00419 Congenital generalized lipodystrophy P53816 PLAAT3 H00420 Familial partial lipodystrophy P08913 ADRA2A H00420 Familial partial lipodystrophy P31751 AKT2 H00420 Familial partial lipodystrophy Q05469 LIPE H00420 Familial partial lipodystrophy P02545 LMNA H00420 Familial partial lipodystrophy O60240 PLIN1 H00420 Familial partial lipodystrophy P37231 PPARG H00420 Familial partial lipodystrophy P16278 GLB1 H00421 Mucopolysaccharidosis P08236 GUSB H00421 Mucopolysaccharidosis P04066 FUCA1 H00422 Glycoproteinoses O00754 MAN2B1 H00422 Glycoproteinoses P10619 CTSA H00422 Glycoproteinoses P04062 GBA1 H00423 Sphingolipidosis P06280 GLA H00423 Sphingolipidosis P16278 GLB1 H00423 Sphingolipidosis P06865 HEXA H00423 Sphingolipidosis P07686 HEXB H00423 Sphingolipidosis Q13510 ASAH1 H00423 Sphingolipidosis Q13510 ASAH1 H00424 Defects in the degradation of sphingomyelin P53634 CTSC H00425 Lysosomal cysteine protease deficiencies P43235 CTSK H00425 Lysosomal cysteine protease deficiencies P16278 GLB1 H00426 Gangliosidosis P06865 HEXA H00426 Gangliosidosis P07686 HEXB H00426 Gangliosidosis P15313 ATP6V1B1 H00428 Distal renal tubular acidosis Q04771 ACVR1 H00430 Fibrodysplasia ossificans progressiva P22413 ENPP1 H00431 Ossification of the posterior longitudinal ligament of spine P01137 TGFB1 H00434 Camurati-Engelmann disease O75581 LRP6 H00436 Osteopetrosis P00918 CA2 H00436 Osteopetrosis O14788 TNFSF11 H00436 Osteopetrosis Q13501 SQSTM1 H00437 Paget disease of bone Q9Y3A5 SBDS H00439 Shwachman-Diamond syndrome P11362 FGFR1 H00443 Osteoglophonic dysplasia P02458 COL2A1 H00445 Osteoarthritis with mild chondrodysplasia Q14739 LBR H00447 HEM skeletal dysplasia Q96PY6 NEK1 H00454 Oral-facial-digital syndrome P41250 GARS1 H00455 Spinal muscular atrophy P10275 AR H00455 Spinal muscular atrophy Q13510 ASAH1 H00455 Spinal muscular atrophy P22314 UBA1 H00455 Spinal muscular atrophy O95292 VAPB H00455 Spinal muscular atrophy P21333 FLNA H00456 Fronto-otopalatodigital syndromes P15428 HPGD H00457 Primary hypertrophic osteoarthropathy Q92959 SLCO2A1 H00457 Primary hypertrophic osteoarthropathy P11362 FGFR1 H00458 Syndromic craniosynostoses P22607 FGFR3 H00458 Syndromic craniosynostoses P21802 FGFR2 H00458 Syndromic craniosynostoses O00238 BMPR1B H00468 Acromesomelic dysplasia, Demirhan type P19971 TYMP H00469 Mitochondrial DNA depletion syndrome P49916 LIG3 H00469 Mitochondrial DNA depletion syndrome O60313 OPA1 H00469 Mitochondrial DNA depletion syndrome Q7LG56 RRM2B H00469 Mitochondrial DNA depletion syndrome P54098 POLG H00469 Mitochondrial DNA depletion syndrome Q00059 TFAM H00469 Mitochondrial DNA depletion syndrome O00142 TK2 H00469 Mitochondrial DNA depletion syndrome P53597 SUCLG1 H00469 Mitochondrial DNA depletion syndrome Q9P2R7 SUCLA2 H00469 Mitochondrial DNA depletion syndrome Q9BQT8 SLC25A21 H00469 Mitochondrial DNA depletion syndrome P20594 NPR2 H00470 Acromesomelic dysplasia, Maroteaux type Q9NYL2 MAP3K20 H00471 Split-hand/foot malformation P08253 MMP2 H00472 Torg syndrome Q86Y39 NDUFA11 H00473 Mitochondrial complex I deficiency Q9BU61 NDUFAF3 H00473 Mitochondrial complex I deficiency Q9P032 NDUFAF4 H00473 Mitochondrial complex I deficiency O75251 NDUFS7 H00473 Mitochondrial complex I deficiency P03886 MT-ND1 H00473 Mitochondrial complex I deficiency P03891 MT-ND2 H00473 Mitochondrial complex I deficiency P03897 MT-ND3 H00473 Mitochondrial complex I deficiency P03905 MT-ND4 H00473 Mitochondrial complex I deficiency P03901 MT-ND4L H00473 Mitochondrial complex I deficiency P03915 MT-ND5 H00473 Mitochondrial complex I deficiency P03923 MT-ND6 H00473 Mitochondrial complex I deficiency O15239 NDUFA1 H00473 Mitochondrial complex I deficiency O43678 NDUFA2 H00473 Mitochondrial complex I deficiency P56556 NDUFA6 H00473 Mitochondrial complex I deficiency P51970 NDUFA8 H00473 Mitochondrial complex I deficiency Q16795 NDUFA9 H00473 Mitochondrial complex I deficiency O95299 NDUFA10 H00473 Mitochondrial complex I deficiency O43676 NDUFB3 H00473 Mitochondrial complex I deficiency P17568 NDUFB7 H00473 Mitochondrial complex I deficiency O95169 NDUFB8 H00473 Mitochondrial complex I deficiency Q9Y6M9 NDUFB9 H00473 Mitochondrial complex I deficiency O96000 NDUFB10 H00473 Mitochondrial complex I deficiency O95298 NDUFC2 H00473 Mitochondrial complex I deficiency P28331 NDUFS1 H00473 Mitochondrial complex I deficiency O75306 NDUFS2 H00473 Mitochondrial complex I deficiency O75489 NDUFS3 H00473 Mitochondrial complex I deficiency P49821 NDUFV1 H00473 Mitochondrial complex I deficiency O43181 NDUFS4 H00473 Mitochondrial complex I deficiency O75380 NDUFS6 H00473 Mitochondrial complex I deficiency O00217 NDUFS8 H00473 Mitochondrial complex I deficiency P19404 NDUFV2 H00473 Mitochondrial complex I deficiency Q9P0J0 NDUFA13 H00473 Mitochondrial complex I deficiency Q9Y375 NDUFAF1 H00473 Mitochondrial complex I deficiency Q9NX14 NDUFB11 H00473 Mitochondrial complex I deficiency Q9UI09 NDUFA12 H00473 Mitochondrial complex I deficiency Q8N183 NDUFAF2 H00473 Mitochondrial complex I deficiency P02458 COL2A1 H00476 Multiple epiphyseal dysplasia P14780 MMP9 H00479 Metaphyseal dysplasias P45452 MMP13 H00479 Metaphyseal dysplasias Q03431 PTH1R H00479 Metaphyseal dysplasias P51816 AFF2 H00480 X-linked intellectual developmental disorder Q9UPE1 SRPK3 H00480 X-linked intellectual developmental disorder P51610 HCFC1 H00480 X-linked intellectual developmental disorder O75914 PAK3 H00480 X-linked intellectual developmental disorder P51812 RPS6KA3 H00480 X-linked intellectual developmental disorder Q93008 USP9X H00480 X-linked intellectual developmental disorder O15294 OGT H00480 X-linked intellectual developmental disorder Q8TDN2 KCNV2 H00481 Cone-rod dystrophy and cone dystrophy P51160 PDE6C H00481 Cone-rod dystrophy and cone dystrophy Q13956 PDE6H H00481 Cone-rod dystrophy and cone dystrophy O60840 CACNA1F H00481 Cone-rod dystrophy and cone dystrophy Q13443 ADAM9 H00481 Cone-rod dystrophy and cone dystrophy Q13432 UNC119 H00481 Cone-rod dystrophy and cone dystrophy Q7Z3S7 CACNA2D4 H00481 Cone-rod dystrophy and cone dystrophy Q01974 ROR2 H00482 Brachydactyly Q14432 PDE3A H00482 Brachydactyly O00238 BMPR1B H00482 Brachydactyly Q01974 ROR2 H00485 Robinow syndrome Q9BQB4 SOST H00486 Sclerosteosis P40939 HADHA H00489 LCHAD deficiency P24557 TBXAS1 H00490 Diaphyseal dysplasia with anemia Q03431 PTH1R H00495 Eiken dysplasia O75369 FLNB H00499 Spondylocarpotarsal synostosis syndrome Q99835 SMO H00502 Pallister-Hall syndrome Q92793 CREBBP H00504 Rubinstein-Taybi syndrome Q09472 EP300 H00504 Rubinstein-Taybi syndrome P22607 FGFR3 H00505 FGFR3-related short limb skeletal dysplasia P33947 KDELR2 H00506 Osteogenesis imperfecta P23284 PPIB H00506 Osteogenesis imperfecta P13497 BMP1 H00506 Osteogenesis imperfecta P04628 WNT1 H00506 Osteogenesis imperfecta O60832 DKC1 H00507 Dyskeratosis congenita Q9NX24 NHP2 H00507 Dyskeratosis congenita O14746 TERT H00507 Dyskeratosis congenita P04818 TYMS H00507 Dyskeratosis congenita Q03431 PTH1R H00508 Blomstrand syndrome Q96PY6 NEK1 H00511 Short rib-polydactyly syndrome P35557 GCK H00512 Permanent neonatal diabetes mellitus Q14654 KCNJ11 H00512 Permanent neonatal diabetes mellitus Q09428 ABCC8 H00512 Permanent neonatal diabetes mellitus Q14654 KCNJ11 H00513 Transient neonatal diabetes mellitus Q09428 ABCC8 H00513 Transient neonatal diabetes mellitus P12644 BMP4 H00516 Cleft lip and/or cleft palate P02458 COL2A1 H00519 Spondyloepiphyseal dysplasia congenita P02458 COL2A1 H00520 Type II collagenopathies Q13951 CBFB H00521 Cleidocranial dysplasia Q9HBA0 TRPV4 H00522 Brachyolmia P01112 HRAS H00523 Noonan syndrome and related disorders P01116 KRAS H00523 Noonan syndrome and related disorders P01111 NRAS H00523 Noonan syndrome and related disorders Q02750 MAP2K1 H00523 Noonan syndrome and related disorders P36507 MAP2K2 H00523 Noonan syndrome and related disorders Q06124 PTPN11 H00523 Noonan syndrome and related disorders P04049 RAF1 H00523 Noonan syndrome and related disorders Q07889 SOS1 H00523 Noonan syndrome and related disorders P15056 BRAF H00523 Noonan syndrome and related disorders P22681 CBL H00523 Noonan syndrome and related disorders Q9HBA0 TRPV4 H00524 Scapuloperoneal spinal muscular atrophy P50416 CPT1A H00525 Disorders of mitochondrial fatty-acid oxidation P23786 CPT2 H00525 Disorders of mitochondrial fatty-acid oxidation P30084 ECHS1 H00525 Disorders of mitochondrial fatty-acid oxidation P40939 HADHA H00525 Disorders of mitochondrial fatty-acid oxidation P55084 HADHB H00525 Disorders of mitochondrial fatty-acid oxidation Q16836 HADH H00525 Disorders of mitochondrial fatty-acid oxidation P49748 ACADVL H00525 Disorders of mitochondrial fatty-acid oxidation Q9Y5X4 NR2E3 H00527 Retinitis pigmentosa Q12866 MERTK H00527 Retinitis pigmentosa Q6P2Q9 PRPF8 H00527 Retinitis pigmentosa P35869 AHR H00527 Retinitis pigmentosa O75643 SNRNP200 H00527 Retinitis pigmentosa O94906 PRPF6 H00527 Retinitis pigmentosa Q8WWY3 PRPF31 H00527 Retinitis pigmentosa P19367 HK1 H00527 Retinitis pigmentosa P50213 IDH3A H00527 Retinitis pigmentosa P20839 IMPDH1 H00527 Retinitis pigmentosa P20794 MAK H00527 Retinitis pigmentosa P51955 NEK2 H00527 Retinitis pigmentosa P16499 PDE6A H00527 Retinitis pigmentosa P18545 PDE6G H00527 Retinitis pigmentosa P35913 PDE6B H00527 Retinitis pigmentosa P12271 RLBP1 H00527 Retinitis pigmentosa Q16518 RPE65 H00527 Retinitis pigmentosa P22748 CA4 H00527 Retinitis pigmentosa O43172 PRPF4 H00527 Retinitis pigmentosa O43395 PRPF3 H00527 Retinitis pigmentosa Q9UPZ9 CILK1 H00529 Cranioectodermal dysplasia O43924 PDE6D H00530 Joubert syndrome and related disorders Q1MSJ5 CSPP1 H00530 Joubert syndrome and related disorders Q02763 TEK H00531 Venous malformations P37023 ACVRL1 H00533 Hereditary hemorrhagic telangiectasia Q9BUL8 PDCD10 H00534 Cerebral cavernous malformation Q99759 MAP3K3 H00534 Cerebral cavernous malformation P42336 PIK3CA H00534 Cerebral cavernous malformation Q16602 CALCRL H00535 Lymphatic malformation P54760 EPHB4 H00535 Lymphatic malformation P11308 ERG H00535 Lymphatic malformation P35916 FLT4 H00535 Lymphatic malformation P35590 TIE1 H00535 Lymphatic malformation Q9UM47 NOTCH3 H00536 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy Q86SG6 NEK8 H00537 Nephronophthisis Q9Y6K9 IKBKG H00540 Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID) P61619 SEC61A1 H00541 Autosomal dominant tubulointerstitial kidney disease P00797 REN H00541 Autosomal dominant tubulointerstitial kidney disease P07911 UMOD H00541 Autosomal dominant tubulointerstitial kidney disease Q14697 GANAB H00542 Polycystic kidney disease Q86SG6 NEK8 H00542 Polycystic kidney disease P98161 PKD1 H00542 Polycystic kidney disease Q13563 PKD2 H00542 Polycystic kidney disease Q86SG6 NEK8 H00543 Renal-hepatic-pancreatic dysplasia Q9UGP8 SEC63 H00545 Polycystic liver disease P14314 PRKCSH H00545 Polycystic liver disease Q9BVK2 ALG8 H00545 Polycystic liver disease O43897 TLL1 H00546 Atrial septal defect P21397 MAOA H00548 Brunner syndrome Q04721 NOTCH2 H00551 Alagille syndrome P46531 NOTCH1 H00554 Aortic valve disease P36543 ATP6V1E1 H00557 Cutis laxa P32322 PYCR1 H00557 Cutis laxa P32322 PYCR1 H00558 Geroderma osteodysplasticum P24385 CCND1 H00559 von Hippel-Lindau syndrome P40337 VHL H00559 von Hippel-Lindau syndrome P56524 HDAC4 H00561 Brachydactyly-mental retardation syndrome P50402 EMD H00563 Emery-Dreifuss muscular dystrophy P02545 LMNA H00563 Emery-Dreifuss muscular dystrophy Q9BTV4 TMEM43 H00563 Emery-Dreifuss muscular dystrophy P22674 CCNO H00564 Primary ciliary dyskinesia Q6ZWH5 NEK10 H00564 Primary ciliary dyskinesia Q9NRP7 STK36 H00564 Primary ciliary dyskinesia Q09013 DMPK H00568 Myotonic dystrophy P62633 CNBP H00568 Myotonic dystrophy O15550 KDM6A H00570 Kabuki syndrome P51812 RPS6KA3 H00574 Coffin-Lowry syndrome P12821 ACE H00575 Renal tubular dysgenesis P01019 AGT H00575 Renal tubular dysgenesis P30556 AGTR1 H00575 Renal tubular dysgenesis P00797 REN H00575 Renal tubular dysgenesis P35579 MYH9 H00578 Epstein syndrome Q15149 PLEC H00584 Epidermolysis bullosa simplex Q15149 PLEC H00585 Epidermolysis bullosa, hemidesmosomal P23229 ITGA6 H00586 Epidermolysis bullosa, junctional P35222 CTNNB1 H00589 Familial exudative vitreoretinopathy O75581 LRP6 H00589 Familial exudative vitreoretinopathy P02545 LMNA H00590 Congenital muscular dystrophies (CMD/MDC) Q9UBC3 DNMT3B H00591 Facioscapulohumeral muscular dystrophy Q9Y5L0 TNPO3 H00593 Limb-girdle muscular dystrophy Q5JTV8 TOR1AIP1 H00593 Limb-girdle muscular dystrophy P04035 HMGCR H00593 Limb-girdle muscular dystrophy Q15149 PLEC H00593 Limb-girdle muscular dystrophy Q8WZ42 TTN H00593 Limb-girdle muscular dystrophy O14979 HNRNPDL H00593 Limb-girdle muscular dystrophy P09651 HNRNPA1 H00594 Distal myopathy P31483 TIA1 H00594 Distal myopathy Q8WZ42 TTN H00594 Distal myopathy Q13501 SQSTM1 H00594 Distal myopathy Q8WZ42 TTN H00595 Myofibrillar myopathies P52788 SMS H00597 Snyder-Robinson syndrome Q13285 NR5A1 H00598 46,XX testicular disorder of sex development P24468 NR2F2 H00598 46,XX testicular disorder of sex development Q92731 ESR2 H00599 Ovarian dysgenesis P23945 FSHR H00599 Ovarian dysgenesis P82650 MRPS22 H00599 Ovarian dysgenesis P02545 LMNA H00601 Hutchinson-Gilford progeria syndrome P15538 CYP11B1 H00602 Glucocorticoid-remediable aldosteronism (GRA) P19099 CYP11B2 H00602 Glucocorticoid-remediable aldosteronism (GRA) P08235 NR3C2 H00603 Hypertension exacerbated in pregnancy Q96P20 NLRP3 H00604 Deafness, autosomal dominant O60610 DIAPH1 H00604 Deafness, autosomal dominant Q9UBL9 P2RX2 H00604 Deafness, autosomal dominant P46821 MAP1B H00604 Deafness, autosomal dominant P49736 MCM2 H00604 Deafness, autosomal dominant P33527 ABCC1 H00604 Deafness, autosomal dominant P35579 MYH9 H00604 Deafness, autosomal dominant Q14123 PDE1C H00604 Deafness, autosomal dominant Q9UBF8 PI4KB H00604 Deafness, autosomal dominant Q8NEV4 MYO3A H00604 Deafness, autosomal dominant P55011 SLC12A2 H00604 Deafness, autosomal dominant Q7Z406 MYH14 H00604 Deafness, autosomal dominant Q86SK9 SCD5 H00604 Deafness, autosomal dominant P56696 KCNQ4 H00604 Deafness, autosomal dominant Q08828 ADCY1 H00605 Deafness, autosomal recessive Q13480 GAB1 H00605 Deafness, autosomal recessive P14210 HGF H00605 Deafness, autosomal recessive Q15046 KARS1 H00605 Deafness, autosomal recessive P08581 MET H00605 Deafness, autosomal recessive Q01973 ROR1 H00605 Deafness, autosomal recessive P35237 SERPINB6 H00605 Deafness, autosomal recessive Q8NEV4 MYO3A H00605 Deafness, autosomal recessive P35241 RDX H00605 Deafness, autosomal recessive Q9UNH5 CDC14A H00605 Deafness, autosomal recessive O95136 S1PR2 H00605 Deafness, autosomal recessive O95319 CELF2 H00606 Early infantile epileptic encephalopathy P57059 SIK1 H00606 Early infantile epileptic encephalopathy P49588 AARS1 H00606 Early infantile epileptic encephalopathy Q05639 EEF1A2 H00606 Early infantile epileptic encephalopathy O60307 MAST3 H00606 Early infantile epileptic encephalopathy Q9BWU1 CDK19 H00606 Early infantile epileptic encephalopathy P14867 GABRA1 H00606 Early infantile epileptic encephalopathy P47869 GABRA2 H00606 Early infantile epileptic encephalopathy P31644 GABRA5 H00606 Early infantile epileptic encephalopathy P18505 GABRB1 H00606 Early infantile epileptic encephalopathy P47870 GABRB2 H00606 Early infantile epileptic encephalopathy P28472 GABRB3 H00606 Early infantile epileptic encephalopathy P18507 GABRG2 H00606 Early infantile epileptic encephalopathy Q8NCM2 KCNH5 H00606 Early infantile epileptic encephalopathy O94925 GLS H00606 Early infantile epileptic encephalopathy Q86YT5 SLC13A5 H00606 Early infantile epileptic encephalopathy Q05586 GRIN1 H00606 Early infantile epileptic encephalopathy Q13224 GRIN2B H00606 Early infantile epileptic encephalopathy O15399 GRIN2D H00606 Early infantile epileptic encephalopathy Q00839 HNRNPU H00606 Early infantile epileptic encephalopathy O60741 HCN1 H00606 Early infantile epileptic encephalopathy Q9BY32 ITPA H00606 Early infantile epileptic encephalopathy P16389 KCNA2 H00606 Early infantile epileptic encephalopathy Q14721 KCNB1 H00606 Early infantile epileptic encephalopathy Q96PR1 KCNC2 H00606 Early infantile epileptic encephalopathy O43526 KCNQ2 H00606 Early infantile epileptic encephalopathy P40925 MDH1 H00606 Early infantile epileptic encephalopathy P40926 MDH2 H00606 Early infantile epileptic encephalopathy P50993 ATP1A2 H00606 Early infantile epileptic encephalopathy P13637 ATP1A3 H00606 Early infantile epileptic encephalopathy Q16620 NTRK2 H00606 Early infantile epileptic encephalopathy Q08209 PPP3CA H00606 Early infantile epileptic encephalopathy Q9H2X9 SLC12A5 H00606 Early infantile epileptic encephalopathy Q5JUK3 KCNT1 H00606 Early infantile epileptic encephalopathy P35498 SCN1A H00606 Early infantile epileptic encephalopathy Q07699 SCN1B H00606 Early infantile epileptic encephalopathy Q99250 SCN2A H00606 Early infantile epileptic encephalopathy Q9NY46 SCN3A H00606 Early infantile epileptic encephalopathy Q9UQD0 SCN8A H00606 Early infantile epileptic encephalopathy P43004 SLC1A2 H00606 Early infantile epileptic encephalopathy Q13813 SPTAN1 H00606 Early infantile epileptic encephalopathy O76039 CDKL5 H00606 Early infantile epileptic encephalopathy P61764 STXBP1 H00606 Early infantile epileptic encephalopathy P61981 YWHAG H00606 Early infantile epileptic encephalopathy O00555 CACNA1A H00606 Early infantile epileptic encephalopathy Q15878 CACNA1E H00606 Early infantile epileptic encephalopathy P54289 CACNA2D1 H00606 Early infantile epileptic encephalopathy P27708 CAD H00606 Early infantile epileptic encephalopathy Q14683 SMC1A H00606 Early infantile epileptic encephalopathy Q96S52 PIGS H00606 Early infantile epileptic encephalopathy O75899 GABBR2 H00606 Early infantile epileptic encephalopathy P17516 AKR1C4 H00607 46,XY gonadal dysgenesis P52895 AKR1C2 H00607 46,XY gonadal dysgenesis P51843 NR0B1 H00607 46,XY gonadal dysgenesis Q13285 NR5A1 H00607 46,XY gonadal dysgenesis Q13233 MAP3K1 H00607 46,XY gonadal dysgenesis Q14781 CBX2 H00607 46,XY gonadal dysgenesis P37058 HSD17B3 H00608 46,XY disorder of sex development due to testosterone secretion defect P22888 LHCGR H00608 46,XY disorder of sex development due to testosterone secretion defect P31213 SRD5A2 H00608 46,XY disorder of sex development due to testosterone secretion defect Q13428 TCOF1 H00610 Treacher Collins syndrome O15160 POLR1C H00610 Treacher Collins syndrome P18564 ITGB6 H00615 Amelogenesis imperfecta Q9Y5K2 KLK4 H00615 Amelogenesis imperfecta Q92979 EMG1 H00616 Bowen-Conradi syndrome Q9NW13 RBM28 H00621 Alopecia neurologic defects and endocrinopathy syndrome Q04721 NOTCH2 H00623 Hajdu-Cheney syndrome P11801 PSKH1 H00624 Progressive familial intrahepatic cholestasis O95342 ABCB11 H00624 Progressive familial intrahepatic cholestasis Q96RI1 NR1H4 H00624 Progressive familial intrahepatic cholestasis O75581 LRP6 H00625 Tooth agenesis Q27J81 INF2 H00626 Focal segmental glomerulosclerosis Q9Y210 TRPC6 H00626 Focal segmental glomerulosclerosis O43707 ACTN4 H00626 Focal segmental glomerulosclerosis Q13285 NR5A1 H00627 Premature ovarian failure Q8WVV4 POF1B H00627 Premature ovarian failure P28288 ABCD3 H00628 Congenital bile acid synthesis defect P51857 AKR1D1 H00628 Congenital bile acid synthesis defect Q9Y2R2 PTPN22 H00630 Rheumatoid arthritis P01911 HLA-DRB1 H00630 Rheumatoid arthritis P05231 IL6 H00630 Rheumatoid arthritis P14174 MIF H00630 Rheumatoid arthritis O60885 BRD4 H00631 Cornelia de Lange syndrome Q9BY41 HDAC8 H00631 Cornelia de Lange syndrome Q14683 SMC1A H00631 Cornelia de Lange syndrome Q9UQE7 SMC3 H00631 Cornelia de Lange syndrome Q8NEH6 MNS1 H00632 Heterotaxy Q13705 ACVR2B H00632 Heterotaxy P22607 FGFR3 H00642 Lacrimo-auriculo-dento-digital syndrome P21802 FGFR2 H00642 Lacrimo-auriculo-dento-digital syndrome Q9Y6K9 IKBKG H00645 Incontinentia pigmenti Q96NY8 NECTIN4 H00647 Ectodermal dysplasia-syndactyly syndrome Q15465 SHH H00652 Solitary median maxillary central incisor syndrome O00571 DDX3X H00658 X-linked syndromic intellectual developmental disorder Q9UPP1 PHF8 H00658 X-linked syndromic intellectual developmental disorder P42263 GRIA3 H00658 X-linked syndromic intellectual developmental disorder Q15233 NONO H00658 X-linked syndromic intellectual developmental disorder P09884 POLA1 H00658 X-linked syndromic intellectual developmental disorder P27635 RPL10 H00658 X-linked syndromic intellectual developmental disorder P21675 TAF1 H00658 X-linked syndromic intellectual developmental disorder P17010 ZFX H00658 X-linked syndromic intellectual developmental disorder Q93008 USP9X H00658 X-linked syndromic intellectual developmental disorder P41229 KDM5C H00658 X-linked syndromic intellectual developmental disorder O75844 ZMPSTE24 H00663 Restrictive dermopathy P02545 LMNA H00663 Restrictive dermopathy P19367 HK1 H00664 Anemia due to disorders of glycolytic enzymes P00558 PGK1 H00664 Anemia due to disorders of glycolytic enzymes P60174 TPI1 H00664 Anemia due to disorders of glycolytic enzymes O75844 ZMPSTE24 H00665 Mandibuloacral dysplasia O75431 MTX2 H00665 Mandibuloacral dysplasia P02545 LMNA H00665 Mandibuloacral dysplasia Q15831 STK11 H00666 Peutz-Jeghers syndrome P11413 G6PD H00668 Anemia due to disorders of glutathione metabolism P00390 GSR H00668 Anemia due to disorders of glutathione metabolism P04350 TUBB4A H00679 Hypomyelinating leukodystrophy P07814 EPRS1 H00679 Hypomyelinating leukodystrophy O95602 POLR1A H00679 Hypomyelinating leukodystrophy P10809 HSPD1 H00679 Hypomyelinating leukodystrophy Q8TB61 SLC35B2 H00679 Hypomyelinating leukodystrophy P61960 UFM1 H00679 Hypomyelinating leukodystrophy P54136 RARS1 H00679 Hypomyelinating leukodystrophy Q13155 AIMP2 H00679 Hypomyelinating leukodystrophy O15121 DEGS1 H00679 Hypomyelinating leukodystrophy Q12904 AIMP1 H00679 Hypomyelinating leukodystrophy O15160 POLR1C H00679 Hypomyelinating leukodystrophy Q03431 PTH1R H00680 Primary failure of tooth eruption Q92542 NCSTN H00681 Acne inversa Q9NZ42 PSENEN H00681 Acne inversa P49768 PSEN1 H00681 Acne inversa P48730 CSNK1D H00688 Familial advanced sleep phase syndrome O60840 CACNA1F H00690 Aland Island eye disease P53634 CTSC H00696 Haim-Munk syndrome P21817 RYR1 H00699 Central core disease P50570 DNM2 H00700 Centronuclear myopathy Q9NYL2 MAP3K20 H00700 Centronuclear myopathy P22626 HNRNPA2B1 H00704 Oculopharyngeal muscular dystrophy P35523 CLCN1 H00705 Myotonia congenita Q9NPC2 KCNK9 H00709 Birk Barel mental retardation syndrome (BBMRS) P51787 KCNQ1 H00713 Beckwith-Wiedemann syndrome P16615 ATP2A2 H00715 Darier disease P15924 DSP H00717 Striate palmoplantar keratoderma Q96L73 NSD1 H00718 Sotos syndrome P06213 INSR H00719 Leprechaunism P15382 KCNE1 H00720 Long QT syndrome Q12809 KCNH2 H00720 Long QT syndrome P48544 KCNJ5 H00720 Long QT syndrome P51787 KCNQ1 H00720 Long QT syndrome Q14524 SCN5A H00720 Long QT syndrome Q13936 CACNA1C H00720 Long QT syndrome P0DP23 CALM1 H00720 Long QT syndrome Q12809 KCNH2 H00725 Short QT syndrome P51787 KCNQ1 H00725 Short QT syndrome Q9Y3Q4 HCN4 H00728 Brugada syndrome Q9UK17 KCND3 H00728 Brugada syndrome Q07699 SCN1B H00728 Brugada syndrome Q14524 SCN5A H00728 Brugada syndrome Q13936 CACNA1C H00728 Brugada syndrome Q08289 CACNB2 H00728 Brugada syndrome Q9Y3Q4 HCN4 H00729 Sick sinus syndrome Q14524 SCN5A H00729 Sick sinus syndrome Q14524 SCN5A H00730 Familial idiopathic ventricular fibrillation O60706 ABCC9 H00731 Atrial fibrillation P22460 KCNA5 H00731 Atrial fibrillation P51787 KCNQ1 H00731 Atrial fibrillation P12829 MYL4 H00731 Atrial fibrillation P01160 NPPA H00731 Atrial fibrillation Q07699 SCN1B H00731 Atrial fibrillation O60939 SCN2B H00731 Atrial fibrillation Q14524 SCN5A H00731 Atrial fibrillation O75694 NUP155 H00731 Atrial fibrillation P35625 TIMP3 H00732 Sorsby fundus dystrophy P31944 CASP14 H00734 Autosomal recessive congenital ichthyosis Q9Y5Y6 ST14 H00734 Autosomal recessive congenital ichthyosis P22735 TGM1 H00734 Autosomal recessive congenital ichthyosis Q9Y5Y6 ST14 H00739 Ichthyosis with hypotrichosis P36956 SREBF1 H00740 Ichthyosis follicularis, alopecia, and photophobia syndrome P35499 SCN4A H00743 Paramyotonia congenita P35499 SCN4A H00744 Potassium-aggravated myotonia P35499 SCN4A H00745 Hyperkalemic periodic paralysis P35499 SCN4A H00746 Hypokalemic periodic paralysis Q13698 CACNA1S H00746 Hypokalemic periodic paralysis Q13698 CACNA1S H00747 Thyrotoxic hypokalemic periodic paralysis Q09470 KCNA1 H00749 Episodic ataxias Q99250 SCN2A H00749 Episodic ataxias P43003 SLC1A3 H00749 Episodic ataxias O00555 CACNA1A H00749 Episodic ataxias O00305 CACNB4 H00749 Episodic ataxias O43464 HTRA2 H00754 3-Methylglutaconic aciduria P16615 ATP2A2 H00755 Acrokeratosis verruciformis P15884 TCF4 H00756 Pitt-Hopkins syndrome P24530 EDNRB H00759 Waardenburg syndrome O14746 TERT H00764 Chromosome 5p deletion syndrome Q9NZJ5 EIF2AK3 H00766 Wolcott-Rallison syndrome Q9UGL1 KDM5B H00768 Autosomal recessive intellectual developmental disorder Q9UKE5 TNIK H00768 Autosomal recessive intellectual developmental disorder Q2M389 WASHC4 H00768 Autosomal recessive intellectual developmental disorder P42261 GRIA1 H00768 Autosomal recessive intellectual developmental disorder Q13002 GRIK2 H00768 Autosomal recessive intellectual developmental disorder Q96SW2 CRBN H00768 Autosomal recessive intellectual developmental disorder Q08J23 NSUN2 H00768 Autosomal recessive intellectual developmental disorder Q9NXH9 TRMT1 H00768 Autosomal recessive intellectual developmental disorder Q96N66 MBOAT7 H00768 Autosomal recessive intellectual developmental disorder Q9UQM7 CAMK2A H00768 Autosomal recessive intellectual developmental disorder P42575 CASP2 H00768 Autosomal recessive intellectual developmental disorder Q9ULK4 MED23 H00768 Autosomal recessive intellectual developmental disorder Q9NZ01 TECR H00768 Autosomal recessive intellectual developmental disorder P23415 GLRA1 H00769 Hyperekplexia P48167 GLRB H00769 Hyperekplexia Q9Y345 SLC6A5 H00769 Hyperekplexia P28329 CHAT H00770 Congenital myasthenic syndrome P02708 CHRNA1 H00770 Congenital myasthenic syndrome P11230 CHRNB1 H00770 Congenital myasthenic syndrome Q07001 CHRND H00770 Congenital myasthenic syndrome Q04844 CHRNE H00770 Congenital myasthenic syndrome Q06210 GFPT1 H00770 Congenital myasthenic syndrome O15146 MUSK H00770 Congenital myasthenic syndrome Q9GZV3 SLC5A7 H00770 Congenital myasthenic syndrome P35499 SCN4A H00770 Congenital myasthenic syndrome Q16572 SLC18A3 H00770 Congenital myasthenic syndrome Q4J6C6 PREPL H00770 Congenital myasthenic syndrome Q15858 SCN9A H00771 Inherited erythromelalgia Q15858 SCN9A H00772 Paroxysmal extreme pain disorder Q9Y698 CACNG2 H00773 Autosomal dominant intellectual developmental disorder Q86UE8 TLK2 H00773 Autosomal dominant intellectual developmental disorder Q00610 CLTC H00773 Autosomal dominant intellectual developmental disorder P35222 CTNNB1 H00773 Autosomal dominant intellectual developmental disorder Q08211 DHX9 H00773 Autosomal dominant intellectual developmental disorder Q13627 DYRK1A H00773 Autosomal dominant intellectual developmental disorder Q05639 EEF1A2 H00773 Autosomal dominant intellectual developmental disorder Q7KZI7 MARK2 H00773 Autosomal dominant intellectual developmental disorder O94953 KDM4B H00773 Autosomal dominant intellectual developmental disorder Q9UQ35 SRRM2 H00773 Autosomal dominant intellectual developmental disorder P62873 GNB1 H00773 Autosomal dominant intellectual developmental disorder P42261 GRIA1 H00773 Autosomal dominant intellectual developmental disorder Q05586 GRIN1 H00773 Autosomal dominant intellectual developmental disorder Q13224 GRIN2B H00773 Autosomal dominant intellectual developmental disorder Q9BYW2 SETD2 H00773 Autosomal dominant intellectual developmental disorder P07910 HNRNPC H00773 Autosomal dominant intellectual developmental disorder Q4FZB7 KMT5B H00773 Autosomal dominant intellectual developmental disorder Q9NR82 KCNQ5 H00773 Autosomal dominant intellectual developmental disorder Q8WXI9 GATAD2B H00773 Autosomal dominant intellectual developmental disorder P63000 RAC1 H00773 Autosomal dominant intellectual developmental disorder Q01105 SET H00773 Autosomal dominant intellectual developmental disorder P51532 SMARCA4 H00773 Autosomal dominant intellectual developmental disorder Q12824 SMARCB1 H00773 Autosomal dominant intellectual developmental disorder Q9BZK7 TBL1XR1 H00773 Autosomal dominant intellectual developmental disorder Q92794 KAT6A H00773 Autosomal dominant intellectual developmental disorder Q9UQM7 CAMK2A H00773 Autosomal dominant intellectual developmental disorder Q13554 CAMK2B H00773 Autosomal dominant intellectual developmental disorder Q13555 CAMK2G H00773 Autosomal dominant intellectual developmental disorder Q15858 SCN9A H00774 Congenital insensitivity to pain P50993 ATP1A2 H00775 Hemiplegic migraine P35498 SCN1A H00775 Hemiplegic migraine O00555 CACNA1A H00775 Hemiplegic migraine Q16832 DDR2 H00777 SEMD, short limb-hand type P18507 GABRG2 H00783 Febrile seizures Q9UL51 HCN2 H00783 Febrile seizures P35498 SCN1A H00783 Febrile seizures P48449 LSS H00786 Hypotrichosis P46778 RPL21 H00786 Hypotrichosis P78536 ADAM17 H00786 Hypotrichosis O15303 GRM6 H00787 Congenital stationary night blindness P35913 PDE6B H00787 Congenital stationary night blindness Q15835 GRK1 H00787 Congenital stationary night blindness O60840 CACNA1F H00787 Congenital stationary night blindness O60832 DKC1 H00788 Hoyeraal-Hreidarsson syndrome P0DPH7 TUBA3C H00789 Keratoconus P11511 CYP19A1 H00794 Aromatase excess syndrome P02766 TTR H00798 Familial carpal tunnel syndrome Q15796 SMAD2 H00800 Loeys-Dietz syndrome P84022 SMAD3 H00800 Loeys-Dietz syndrome P61812 TGFB2 H00800 Loeys-Dietz syndrome P36897 TGFBR1 H00800 Loeys-Dietz syndrome P37173 TGFBR2 H00800 Loeys-Dietz syndrome P28300 LOX H00801 Familial thoracic aortic aneurysm and dissection Q15746 MYLK H00801 Familial thoracic aortic aneurysm and dissection Q13976 PRKG1 H00801 Familial thoracic aortic aneurysm and dissection P36897 TGFBR1 H00801 Familial thoracic aortic aneurysm and dissection P37173 TGFBR2 H00801 Familial thoracic aortic aneurysm and dissection Q9Y5X4 NR2E3 H00805 Vitreoretinal degeneration P02458 COL2A1 H00805 Vitreoretinal degeneration O43526 KCNQ2 H00806 Benign familial neonatal seizure O43525 KCNQ3 H00806 Benign familial neonatal seizure Q15822 CHRNA2 H00807 Nocturnal frontal lobe epilepsy P43681 CHRNA4 H00807 Nocturnal frontal lobe epilepsy P17787 CHRNB2 H00807 Nocturnal frontal lobe epilepsy Q5JUK3 KCNT1 H00807 Nocturnal frontal lobe epilepsy Q9Y3Q4 HCN4 H00808 Idiopathic generalized epilepsies P51788 CLCN2 H00808 Idiopathic generalized epilepsies P14867 GABRA1 H00808 Idiopathic generalized epilepsies O14764 GABRD H00808 Idiopathic generalized epilepsies Q9UHP3 USP25 H00808 Idiopathic generalized epilepsies Q12791 KCNMA1 H00808 Idiopathic generalized epilepsies Q9H2X9 SLC12A5 H00808 Idiopathic generalized epilepsies Q92753 RORB H00808 Idiopathic generalized epilepsies P11166 SLC2A1 H00808 Idiopathic generalized epilepsies O00305 CACNB4 H00808 Idiopathic generalized epilepsies P41180 CASR H00808 Idiopathic generalized epilepsies O95180 CACNA1H H00808 Idiopathic generalized epilepsies P22466 GAL H00809 Familial epilepsy temporal lobe (ETL) P27544 CERS1 H00810 Progressive myoclonic epilepsy P48547 KCNC1 H00810 Progressive myoclonic epilepsy P08581 MET H00811 Distal arthrogryposis P49238 CX3CR1 H00821 Age-related macular degeneration P00751 CFB H00821 Age-related macular degeneration O00206 TLR4 H00821 Age-related macular degeneration P02748 C9 H00821 Age-related macular degeneration P56159 GFRA1 H00822 Renal hypodysplasia and aplasia P53708 ITGA8 H00822 Renal hypodysplasia and aplasia P24530 EDNRB H00823 ABCD syndrome P21589 NT5E H00824 Calcification of joints and arteries P12271 RLBP1 H00825 Familial flecked retina syndrome P04350 TUBB4A H00831 Primary dystonia Q9H2S1 KCNN2 H00831 Primary dystonia P13637 ATP1A3 H00831 Primary dystonia P06576 ATP5F1B H00831 Primary dystonia P19525 EIF2AK2 H00831 Primary dystonia P11166 SLC2A1 H00831 Primary dystonia P21675 TAF1 H00831 Primary dystonia O95153 TSPOAP1 H00831 Primary dystonia Q9BZ23 PANK2 H00832 Core neuroacanthocytosis syndromes Q9BZ23 PANK2 H00833 Neurodegeneration with brain iron accumulation O60733 PLA2G6 H00833 Neurodegeneration with brain iron accumulation P11166 SLC2A1 H00836 GLUT1 deficiency syndrome P68371 TUBB4B H00837 Leber congenital amaurosis P20839 IMPDH1 H00837 Leber congenital amaurosis Q16518 RPE65 H00837 Leber congenital amaurosis Q13509 TUBB3 H00838 Congenital fibrosis of the extraocular muscles P02766 TTR H00845 Familial amyloidosis Q8WYR1 PIK3R5 H00848 Ataxia with ocular apraxia Q8N5K1 CISD2 H00854 Wolfram syndrome Q99720 SIGMAR1 H00856 Distal hereditary motor neuropathies Q14203 DCTN1 H00856 Distal hereditary motor neuropathies P41250 GARS1 H00856 Distal hereditary motor neuropathies P04792 HSPB1 H00856 Distal hereditary motor neuropathies Q9HBA0 TRPV4 H00856 Distal hereditary motor neuropathies Q9GZV3 SLC5A7 H00856 Distal hereditary motor neuropathies Q00796 SORD H00856 Distal hereditary motor neuropathies Q13813 SPTAN1 H00856 Distal hereditary motor neuropathies Q99986 VRK1 H00856 Distal hereditary motor neuropathies P23381 WARS1 H00856 Distal hereditary motor neuropathies O43306 ADCY6 H00865 Lethal congenital contractural syndrome P50570 DNM2 H00865 Lethal congenital contractural syndrome P21860 ERBB3 H00865 Lethal congenital contractural syndrome O60331 PIP5K1C H00865 Lethal congenital contractural syndrome Q8TD19 NEK9 H00865 Lethal congenital contractural syndrome P49588 AARS1 H00866 Trichothiodystrophy P18074 ERCC2 H00866 Trichothiodystrophy P29084 GTF2E2 H00866 Trichothiodystrophy P56192 MARS1 H00866 Trichothiodystrophy P26639 TARS1 H00866 Trichothiodystrophy Q9UI10 EIF2B4 H00869 Leukoencephalopathy with vanishing white matter Q9NR50 EIF2B3 H00869 Leukoencephalopathy with vanishing white matter P49770 EIF2B2 H00869 Leukoencephalopathy with vanishing white matter Q13144 EIF2B5 H00869 Leukoencephalopathy with vanishing white matter P52701 MSH6 H00876 Mismatch repair deficiency P43246 MSH2 H00876 Mismatch repair deficiency P10619 CTSA H00877 Brain small vessel disease Q14203 DCTN1 H00879 Perry syndrome P55265 ADAR H00880 Dyschromatosis symmetrica hereditaria O96017 CHEK2 H00881 Li-Fraumeni syndrome P04637 TP53 H00881 Li-Fraumeni syndrome O15111 CHUK H00882 Cocoon syndrome Q06495 SLC34A1 H00888 Nephrolithiasis/osteoporosis, hypophosphatemic O14745 NHERF1 H00888 Nephrolithiasis/osteoporosis, hypophosphatemic Q93074 MED12 H00889 Lujan-Fryns syndrome Q5XKP0 MICOS13 H00891 Combined oxidative phosphorylation deficiency Q9Y2Q9 MRPS28 H00891 Combined oxidative phosphorylation deficiency P82650 MRPS22 H00891 Combined oxidative phosphorylation deficiency P52815 MRPL12 H00891 Combined oxidative phosphorylation deficiency P82930 MRPS34 H00891 Combined oxidative phosphorylation deficiency Q07021 C1QBP H00891 Combined oxidative phosphorylation deficiency P49411 TUFM H00891 Combined oxidative phosphorylation deficiency Q9BW92 TARS2 H00891 Combined oxidative phosphorylation deficiency Q96RP9 GFM1 H00891 Combined oxidative phosphorylation deficiency O95831 AIFM1 H00891 Combined oxidative phosphorylation deficiency P37088 SCNN1A H00892 Bronchiectasis with or without elevated sweat chloride P51168 SCNN1B H00892 Bronchiectasis with or without elevated sweat chloride P51170 SCNN1G H00892 Bronchiectasis with or without elevated sweat chloride P15924 DSP H00893 Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis P21333 FLNA H00894 FG syndrome O14936 CASK H00894 FG syndrome Q93074 MED12 H00894 FG syndrome Q01433 AMPD2 H00897 Pontocerebellar hypoplasia Q5T160 RARS2 H00897 Pontocerebellar hypoplasia Q99986 VRK1 H00897 Pontocerebellar hypoplasia Q9H9B1 EHMT1 H00907 Kleefstra syndrome P42892 ECE1 H00910 Hirschsprung disease P24530 EDNRB H00910 Hirschsprung disease P07949 RET H00910 Hirschsprung disease P43005 SLC1A1 H00911 Dicarboxylic aminoaciduria P19438 TNFRSF1A H00912 Tumor necrosis factor receptor-associated periodic syndrome Q15437 SEC23B H00917 Congenital dyserythropoietic anemia Q99714 HSD17B10 H00925 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency Q9C0B1 FTO H00926 Growth retardation, developmental delay, coarse facies, and early death P51692 STAT5B H00931 Growth hormone insensitivity with immunodeficiency Q99895 CTRC H00932 Tropical calcific pancreatitis P07858 CTSB H00932 Tropical calcific pancreatitis P13569 CFTR H00933 Hereditary pancreatitis Q99895 CTRC H00933 Hereditary pancreatitis P07477 PRSS1 H00933 Hereditary pancreatitis P07478 PRSS2 H00933 Hereditary pancreatitis P22888 LHCGR H00937 Precocious puberty Q969F8 KISS1R H00937 Precocious puberty P03951 F11 H00938 Factor XI deficiency P00748 F12 H00941 Factor XII deficiency P06213 INSR H00942 Rabson-Mendenhall syndrome P00488 F13A1 H00945 Factor XIII deficiency P05160 F13B H00945 Factor XIII deficiency P35222 CTNNB1 H00947 Pilomatricoma Q96S37 SLC22A12 H00948 Renal hypouricemia Q9H237 PORCN H00949 Focal dermal hypoplasia Q9Y2I7 PIKFYVE H00957 Corneal fleck dystrophy P15884 TCF4 H00960 Fuchs corneal dystrophy P51580 TPMT H00964 Poor metabolism of thiopurines P31939 ATIC H00966 AICA-ribosiduria P51160 PDE6C H00971 Achromatopsia Q13956 PDE6H H00971 Achromatopsia Q9UPZ9 CILK1 H00972 Endocrine-cerebro-osteodysplasia syndrome P41212 ETV6 H00978 Thrombocytopenia (THC) Q14376 GALE H00978 Thrombocytopenia (THC) P99999 CYCS H00978 Thrombocytopenia (THC) P12931 SRC H00978 Thrombocytopenia (THC) Q01196 RUNX1 H00978 Thrombocytopenia (THC) O75027 ABCB7 H00982 Sideroblastic anemia P38646 HSPA9 H00982 Sideroblastic anemia Q03518 TAP1 H00984 MHC class I deficiency Q03519 TAP2 H00984 MHC class I deficiency P02708 CHRNA1 H00986 Multiple pterygium syndrome Q07001 CHRND H00986 Multiple pterygium syndrome P07510 CHRNG H00986 Multiple pterygium syndrome O15146 MUSK H00987 Fetal akinesia deformation sequence P98073 TMPRSS15 H00988 Enterokinase deficiency Q8N4C6 NIN H00992 Seckel syndrome Q13535 ATR H00992 Seckel syndrome Q9BQB6 VKORC1 H00995 Combined deficiency of vitamin K-dependent clotting factors P22607 FGFR3 H00997 CATSHL syndrome P50993 ATP1A2 H00998 Alternating hemiplegia of childhood P13637 ATP1A3 H00998 Alternating hemiplegia of childhood Q8NI60 COQ8A H00999 Coenzyme Q10 deficiency Q9NSU2 TREX1 H01000 Retinal vasculopathy with cerebral leukodystrophy P22413 ENPP1 H01002 Generalized arterial calcification of infancy P09172 DBH H01005 Dopamine beta-hydroxylase deficiency P00748 F12 H01006 Hereditary angioedema P01042 KNG1 H01006 Hereditary angioedema P00747 PLG H01006 Hereditary angioedema P04637 TP53 H01007 Choroid plexus papilloma P12271 RLBP1 H01009 Newfoundland rod-cone dystrophy Q12908 SLC10A2 H01016 Primary bile acid malabsorption Q06124 PTPN11 H01018 Metachondromatosis P0DP23 CALM1 H01019 Catecholaminergic polymorphic ventricular tachycardia Q9Y4W6 AFG3L2 H01020 Optic atrophy O60313 OPA1 H01020 Optic atrophy Q04837 SSBP1 H01020 Optic atrophy Q02218 OGDH H01022 Diseases of the tricarboxylic acid cycle P31040 SDHA H01022 Diseases of the tricarboxylic acid cycle P36894 BMPR1A H01023 Juvenile polyposis syndrome P36894 BMPR1A H01024 Hereditary mixed polyposis syndrome P25054 APC H01025 Familial adenomatous polyposis P47895 ALDH1A3 H01027 Microphthalmia P02753 RBP4 H01027 Microphthalmia Q9BX79 STRA6 H01027 Microphthalmia Q15465 SHH H01027 Microphthalmia P23975 SLC6A2 H01031 Orthostatic intolerance P13569 CFTR H01033 Congenital bilateral absence of vas deferens P32004 L1CAM H01034 L1 syndrome P23945 FSHR H01039 Ovarian hyperstimulation syndrome Q969N2 PIGT H01053 Paroxysmal nocturnal hemoglobinuria Q7Z4W1 DCXR H01065 Pentosuria P05091 ALDH2 H01071 Acute alcohol sensitivity P24752 ACAT1 H01076 Beta-ketothiolase deficiency P03952 KLKB1 H01078 Fletcher factor deficiency O43175 PHGDH H01079 3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency Q9Y617 PSAT1 H01082 Phosphoserine aminotransferase deficiency P11678 EPX H01094 Eosinophil peroxidase deficiency O00255 MEN1 H01102 Pituitary adenomas O00170 AIP H01102 Pituitary adenomas P40818 USP8 H01102 Pituitary adenomas P42224 STAT1 H01109 Chronic mucocutaneous candidiasis P28845 HSD11B1 H01111 Cortisone reductase deficiency Q7RTN6 STRADA H01112 Polyhydramnios, megalencephaly, and symptomatic epilepsy P46937 YAP1 H01114 Ocular coloboma Q8N2K0 ABHD12 H01115 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract P14778 IL1R1 H01117 Chronic recurrent multifocal osteomyelitis P18510 IL1RN H01117 Chronic recurrent multifocal osteomyelitis Q7LG56 RRM2B H01118 Progressive external ophthalmoplegia P54098 POLG H01118 Progressive external ophthalmoplegia P12955 PEPD H01119 Prolidase deficiency P31639 SLC5A2 H01126 Familial renal glucosuria P54819 AK2 H01128 Reticular dysgenesis O14983 ATP2A1 H01129 Brody myopathy Q9UHD8 SEPTIN9 H01131 Hereditary neuralgic amyotrophy Q9Y3A5 SBDS H01132 Aplastic anemia O14746 TERT H01132 Aplastic anemia Q14739 LBR H01133 Reynolds syndrome P51532 SMARCA4 H01134 Rhabdoid predisposition syndrome Q12824 SMARCB1 H01134 Rhabdoid predisposition syndrome P15169 CPN1 H01136 Carboxypeptidase N deficiency Q6VVX0 CYP2R1 H01143 Vitamin D-dependent rickets P08684 CYP3A4 H01143 Vitamin D-dependent rickets O15528 CYP27B1 H01143 Vitamin D-dependent rickets P11473 VDR H01143 Vitamin D-dependent rickets Q9UGJ0 PRKAG2 H01154 Wolff-Parkinson-White (WPW) syndrome Q16678 CYP1B1 H01159 Anterior segment dysgenesis Q15465 SHH H01160 Schizencephaly P20711 DDC H01161 Aromatic L-amino acid decarboxylase deficiency P08185 SERPINA6 H01163 Corticosteroid-binding globulin (CBG) deficiency P04839 CYBB H01167 Granulibacter infection P14598 NCF1 H01167 Granulibacter infection P33261 CYP2C19 H01171 Poor drug metabolism P10635 CYP2D6 H01171 Poor drug metabolism O43291 SPINT2 H01174 Congenital diarrhea P40879 SLC26A3 H01174 Congenital diarrhea P16422 EPCAM H01174 Congenital diarrhea Q9ULC5 ACSL5 H01174 Congenital diarrhea P48764 SLC9A3 H01174 Congenital diarrhea O75907 DGAT1 H01174 Congenital diarrhea P00846 MT-ATP6 H01177 Infantile bilateral striatal necrosis P28347 TEAD1 H01180 Sveinsson chorioretinal atrophy (SCRA) P43251 BTD H01182 Biotinidase deficiency P05067 APP H01185 Cerebral amyloid angiopathy P37837 TALDO1 H01189 Transaldolase deficiency P43116 PTGER2 H01191 Asthma with nasal polyps and aspirin intolerance Q15125 EBP H01194 X-linked chondrodysplasia punctata P49281 SLC11A2 H01196 Hypochromic microcytic anemia P00374 DHFR H01197 Dihydrofolate reductase deficiency P41235 HNF4A H01198 Fanconi renotubular syndrome Q06495 SLC34A1 H01198 Fanconi renotubular syndrome P11597 CETP H01199 Hyperalphalipoproteinemia P29317 EPHA2 H01202 Cataract P48449 LSS H01202 Cataract P08670 VIM H01202 Cataract Q16678 CYP1B1 H01203 Primary congenital glaucoma Q02763 TEK H01203 Primary congenital glaucoma P11509 CYP2A6 H01205 Coumarin resistance P11712 CYP2C9 H01205 Coumarin resistance Q9BQB6 VKORC1 H01205 Coumarin resistance P00747 PLG H01206 Plasminogen deficiency P11362 FGFR1 H01207 Trigonocephaly O95831 AIFM1 H01209 Deafness, X-linked Q9BX84 TRPM6 H01210 Hypomagnesemia P05023 ATP1A1 H01210 Hypomagnesemia P54710 FXYD2 H01210 Hypomagnesemia Q14896 MYBPC3 H01216 Left ventricular noncompaction Q15437 SEC23B H01222 Cowden syndrome P31749 AKT1 H01222 Cowden syndrome P42336 PIK3CA H01222 Cowden syndrome P48735 IDH2 H01225 D-2-hydroxyglutaric aciduria P08183 ABCB1 H01227 Inflammatory bowel disease (IBD) Q9HC29 NOD2 H01227 Inflammatory bowel disease (IBD) P06213 INSR H01228 Insulin-resistant diabetes mellitus with acanthosis nigricans Q9UKX2 MYH2 H01229 Inclusion body myopathy 3 P20700 LMNB1 H01230 Adult-onset autosomal dominant leukodystrophy Q15116 PDCD1 H01232 Syndromic multisystem autoimmune disease P29323 EPHB2 H01235 Bleeding disorder platelet-type Q01543 FLI1 H01235 Bleeding disorder platelet-type P17301 ITGA2 H01235 Bleeding disorder platelet-type P08514 ITGA2B H01235 Bleeding disorder platelet-type P05106 ITGB3 H01235 Bleeding disorder platelet-type Q9HCN6 GP6 H01235 Bleeding disorder platelet-type P00749 PLAU H01235 Bleeding disorder platelet-type P22612 PRKACG H01235 Bleeding disorder platelet-type Q9H244 P2RY12 H01235 Bleeding disorder platelet-type P21731 TBXA2R H01235 Bleeding disorder platelet-type P12814 ACTN1 H01235 Bleeding disorder platelet-type O94788 ALDH1A2 H01241 Congenital diaphragmatic hernia P04156 PRNP H01243 Huntington disease-like syndrome Q9Y6K9 IKBKG H01245 Immunodeficiency without anhidrotic ectodermal dysplasia P15428 HPGD H01246 Isolated congenital nail clubbing P49419 ALDH7A1 H01247 Pyridoxine-dependent epilepsy P53985 SLC16A1 H01248 Monocarboxylate transporter 1 deficiency Q07889 SOS1 H01250 Hereditary gingival fibromatosis P42345 MTOR H01251 Focal cortical dysplasia of Taylor Q96NT5 SLC46A1 H01252 Hereditary folate malabsorption P00734 F2 H01254 Congenital prothrombin deficiency P35869 AHR H01256 Foveal hypoplasia P80404 ABAT H01257 GABA-transaminase deficiency Q12791 KCNMA1 H01258 Generalized epilepsy and paroxysmal dyskinesia P02751 FN1 H01260 Glomerulopathy with fibronectin deposits P13866 SLC5A1 H01261 Congenital glucose-galactose malabsorption Q14524 SCN5A H01263 Progressive cardiac conduction defect (PCCD) P35557 GCK H01267 Familial hyperinsulinemic hypoglycemia Q16836 HADH H01267 Familial hyperinsulinemic hypoglycemia P06213 INSR H01267 Familial hyperinsulinemic hypoglycemia Q14654 KCNJ11 H01267 Familial hyperinsulinemic hypoglycemia P53985 SLC16A1 H01267 Familial hyperinsulinemic hypoglycemia Q09428 ABCC8 H01267 Familial hyperinsulinemic hypoglycemia P16473 TSHR H01269 Congenital hyperthyroidism P04114 APOB H01270 Familial hypobetalipoproteinemia P08069 IGF1R H01274 Growth delay due to insulin-like growth factor I resistance P18510 IL1RN H01275 Interleukin 1 receptor antagonist deficiency P21333 FLNA H01276 Chronic idiopathic intestinal pseudo-obstruction Q8IU80 TMPRSS6 H01278 Iron-refractory iron deficiency anemia Q6ZR08 DNAH12 H01282 Spermatogenic failure Q13285 NR5A1 H01282 Spermatogenic failure P10323 ACR H01282 Spermatogenic failure Q16576 RBBP7 H01282 Spermatogenic failure Q9BYT3 STK33 H01282 Spermatogenic failure Q58F21 BRDT H01282 Spermatogenic failure Q9UQB9 AURKC H01282 Spermatogenic failure O95822 MLYCD H01283 Malonyl-CoA decarboxylase deficiency Q99707 MTR H01285 Methylcobalamin deficiency type G Q06609 RAD51 H01287 Congenital mirror movements Q15645 TRIP13 H01288 Mosaic variegated aneuploidy syndrome P30518 AVPR2 H01294 Nephrogenic syndrome of inappropriate antidiuresis P15328 FOLR1 H01295 Neurodegeneration due to cerebral folate transport deficiency Q96AD5 PNPLA2 H01297 Neutral lipid storage disease with myopathy O95436 SLC34A2 H01298 Pulmonary alveolar microlithiasis Q8IWL2 SFTPA1 H01299 Idiopathic pulmonary fibrosis O14746 TERT H01299 Idiopathic pulmonary fibrosis O43570 CA12 H01302 Hyperchlorhidrosis isolated (HCHLH) P51178 PLCD1 H01307 Nonsyndromic congenital nail disorder P21817 RYR1 H01310 Multi-minicore disease P56589 PEX3 H01342 Zellweger syndrome Q92878 RAD50 H01344 Nijmegen breakage syndrome P00156 MT-CYB H01347 MELAS syndrome P03886 MT-ND1 H01347 MELAS syndrome P03915 MT-ND5 H01347 MELAS syndrome P03923 MT-ND6 H01347 MELAS syndrome Q9Y4W6 AFG3L2 H01351 Spastic ataxia P68366 TUBA4A H01351 Spastic ataxia P40939 HADHA H01352 Mitochondrial trifunctional protein deficiency P55084 HADHB H01352 Mitochondrial trifunctional protein deficiency P42704 LRPPRC H01354 Leigh syndrome P00846 MT-ATP6 H01354 Leigh syndrome P00846 MT-ATP6 H01355 Kearns-Sayre syndrome P00156 MT-CYB H01355 Kearns-Sayre syndrome P03897 MT-ND3 H01355 Kearns-Sayre syndrome P03905 MT-ND4 H01355 Kearns-Sayre syndrome P03901 MT-ND4L H01355 Kearns-Sayre syndrome P03915 MT-ND5 H01355 Kearns-Sayre syndrome P03923 MT-ND6 H01355 Kearns-Sayre syndrome P03915 MT-ND5 H01356 Myoclonic Epilepsy and Ragged-Red Fiber Disease P35225 IL13 H01360 Allergic rhinitis P00846 MT-ATP6 H01363 NARP syndrome Q16836 HADH H01364 3-Hydroxyacyl-CoA dehydrogenase deficiency P03886 MT-ND1 H01365 Leber hereditary optic neuropathy and dystonia P03897 MT-ND3 H01365 Leber hereditary optic neuropathy and dystonia P03905 MT-ND4 H01365 Leber hereditary optic neuropathy and dystonia P03923 MT-ND6 H01365 Leber hereditary optic neuropathy and dystonia Q9P2J5 LARS1 H01367 Infantile liver failure A2RRP1 NBAS H01367 Infantile liver failure P42704 LRPPRC H01368 Cytochrome c oxidase (COX) deficiency P13073 COX4I1 H01368 Cytochrome c oxidase (COX) deficiency P00395 MT-CO1 H01368 Cytochrome c oxidase (COX) deficiency P00403 MT-CO2 H01368 Cytochrome c oxidase (COX) deficiency O00483 COXFA4 H01368 Cytochrome c oxidase (COX) deficiency Q7L8L6 FASTKD5 H01368 Cytochrome c oxidase (COX) deficiency Q15526 SURF1 H01368 Cytochrome c oxidase (COX) deficiency Q96I36 COX14 H01368 Cytochrome c oxidase (COX) deficiency P00846 MT-ATP6 H01369 ATP synthase deficiency P06576 ATP5F1B H01369 ATP synthase deficiency P48047 ATP5PO H01369 ATP synthase deficiency Q96IX5 ATP5MK H01369 ATP synthase deficiency P27986 PIK3R1 H01370 SHORT syndrome Q07973 CYP24A1 H01371 Hypercalcemia infantile Q06495 SLC34A1 H01371 Hypercalcemia infantile P11413 G6PD H01375 Glucose 6-phosphate dehydrogenase deficiency Q02127 DHODH H01376 Acrofacial dysostosis O95602 POLR1A H01376 Acrofacial dysostosis P01008 SERPINC1 H01381 Antithrombin III deficiency P01130 LDLR H01383 Hyperlipoproteinemia type IIa P54098 POLG H01384 Mitochondrial recessive ataxia syndrome P08243 ASNS H01386 Asparagine synthetase deficiency O00329 PIK3CD H01387 Activated PI3K-delta syndrome P27986 PIK3R1 H01387 Activated PI3K-delta syndrome P54098 POLG H01389 Alpers syndrome P19971 TYMP H01390 Mitochondrial neurogastrointestinal encephalomyopathy P49916 LIG3 H01390 Mitochondrial neurogastrointestinal encephalomyopathy Q7LG56 RRM2B H01390 Mitochondrial neurogastrointestinal encephalomyopathy P54098 POLG H01390 Mitochondrial neurogastrointestinal encephalomyopathy Q9UI33 SCN11A H01391 Familial episodic pain syndrome Q9Y5Y9 SCN10A H01391 Familial episodic pain syndrome O75762 TRPA1 H01391 Familial episodic pain syndrome P22413 ENPP1 H01394 Cole disease O60930 RNASEH1 H01395 Autosomal recessive progressive external ophthalmoplegia P54098 POLG H01395 Autosomal recessive progressive external ophthalmoplegia P23921 RRM1 H01395 Autosomal recessive progressive external ophthalmoplegia O00142 TK2 H01395 Autosomal recessive progressive external ophthalmoplegia Q02108 GUCY1A1 H01396 Moyamoya disease P29474 NOS3 H01396 Moyamoya disease Q5XXA6 ANO1 H01396 Moyamoya disease Q63HN8 RNF213 H01396 Moyamoya disease P31327 CPS1 H01398 Primary hyperammonemia (Urea cycle disorders) P05089 ARG1 H01398 Primary hyperammonemia (Urea cycle disorders) P00966 ASS1 H01398 Primary hyperammonemia (Urea cycle disorders) P23786 CPT2 H01400 Secondary hyperammonemia P13804 ETFA H01400 Secondary hyperammonemia P38117 ETFB H01400 Secondary hyperammonemia P05165 PCCA H01400 Secondary hyperammonemia P35218 CA5A H01400 Secondary hyperammonemia P51531 SMARCA2 H01402 Nicolaides-Baraitser syndrome Q9NZM4 BICRA H01403 Coffin-Siris syndrome P51532 SMARCA4 H01403 Coffin-Siris syndrome Q12824 SMARCB1 H01403 Coffin-Siris syndrome Q8TAQ2 SMARCC2 H01403 Coffin-Siris syndrome Q96GM5 SMARCD1 H01403 Coffin-Siris syndrome Q969G3 SMARCE1 H01403 Coffin-Siris syndrome Q06330 RBPJ H01413 Adams-Oliver syndrome P46531 NOTCH1 H01413 Adams-Oliver syndrome P18074 ERCC2 H01428 Xeroderma pigmentosum Q92889 ERCC4 H01428 Xeroderma pigmentosum P28715 ERCC5 H01428 Xeroderma pigmentosum Q9Y253 POLH H01428 Xeroderma pigmentosum O00255 MEN1 H01431 Cushing syndrome Q9HCR9 PDE11A H01431 Cushing syndrome P17612 PRKACA H01431 Cushing syndrome O95263 PDE8B H01431 Cushing syndrome O00170 AIP H01431 Cushing syndrome P40818 USP8 H01431 Cushing syndrome P12259 F5 H01433 Budd-Chiari syndrome O60674 JAK2 H01433 Budd-Chiari syndrome P00751 CFB H01434 Atypical hemolytic uremic syndrome P08865 RPSA H01435 Congenital asplenia P78347 GTF2I H01439 Williams-Beuren syndrome P53667 LIMK1 H01439 Williams-Beuren syndrome P35250 RFC2 H01439 Williams-Beuren syndrome Q8NFV4 ABHD11 H01439 Williams-Beuren syndrome P28223 HTR2A H01450 Obsessive-compulsive disorder P31645 SLC6A4 H01450 Obsessive-compulsive disorder P12821 ACE H01456 Diabetic nephropathy P15692 VEGFA H01456 Diabetic nephropathy P12821 ACE H01457 Diabetic retinopathy P15692 VEGFA H01457 Diabetic retinopathy P15692 VEGFA H01459 Diabetic neuropathy P01106 MYC H01463 Mycosis fungoides P04637 TP53 H01463 Mycosis fungoides P24385 CCND1 H01464 Mantle cell lymphoma P04637 TP53 H01464 Mantle cell lymphoma P01112 HRAS H01470 Giant cell tumor of bone P04637 TP53 H01470 Giant cell tumor of bone O14788 TNFSF11 H01470 Giant cell tumor of bone P35916 FLT4 H01471 Lymphangioma P05231 IL6 H01479 Castleman disease P62873 GNB1 H01481 Myelodysplastic syndrome Q6N021 TET2 H01481 Myelodysplastic syndrome P35916 FLT4 H01482 Infantile hemangioma P35968 KDR H01482 Infantile hemangioma O00170 AIP H01483 Acromegaly P62263 RPS14 H01484 5q- syndrome Q969N2 PIGT H01486 Multiple congenital anomalies-hypotonia-seizures syndrome Q8TEQ8 PIGO H01488 Hyperphosphatasia with mental retardation syndrome Q92643 PIGK H01489 Inherited glycosylphosphatidylinositol deficiencies Q969N2 PIGT H01489 Inherited glycosylphosphatidylinositol deficiencies Q8TEQ8 PIGO H01489 Inherited glycosylphosphatidylinositol deficiencies O43292 GPAA1 H01489 Inherited glycosylphosphatidylinositol deficiencies Q96S52 PIGS H01489 Inherited glycosylphosphatidylinositol deficiencies P01911 HLA-DRB1 H01490 Multiple sclerosis Q15116 PDCD1 H01490 Multiple sclerosis P19438 TNFRSF1A H01490 Multiple sclerosis Q14765 STAT4 H01493 Localized Scleroderma P01911 HLA-DRB1 H01504 Vogt-Koyanagi-Harada syndrome P01889 HLA-B H01507 Seronegative arthritis P00533 EGFR H01508 Salivary gland cancer P04626 ERBB2 H01508 Salivary gland cancer Q16288 NTRK3 H01508 Salivary gland cancer Q16665 HIF1A H01509 Tonsillar cancer P01106 MYC H01509 Tonsillar cancer Q99814 EPAS1 H01510 Malignant paraganglioma P61244 MAX H01510 Malignant paraganglioma P07949 RET H01510 Malignant paraganglioma P40337 VHL H01510 Malignant paraganglioma P10721 KIT H01511 Mast-cell leukemia Q02750 MAP2K1 H01512 Langerhans cell histiocytosis P15056 BRAF H01512 Langerhans cell histiocytosis Q00987 MDM2 H01513 Retinoblastoma O15151 MDM4 H01513 Retinoblastoma P06400 RB1 H01513 Retinoblastoma Q12879 GRIN2A H01514 Landau-Kleffner syndrome O00255 MEN1 H01522 Zollinger-Ellison syndrome P02458 COL2A1 H01526 Legg-Calve-Perthes Disease P02458 COL2A1 H01529 Avascular necrosis of femoral head P29474 NOS3 H01529 Avascular necrosis of femoral head P08183 ABCB1 H01529 Avascular necrosis of femoral head Q9HBA0 TRPV4 H01529 Avascular necrosis of femoral head P15692 VEGFA H01529 Avascular necrosis of femoral head Q9UNQ0 ABCG2 H01532 Gout P51681 CCR5 H01548 West Nile fever P04626 ERBB2 H01554 Fallopian tube cancer P01106 MYC H01554 Fallopian tube cancer P04637 TP53 H01554 Fallopian tube cancer P01112 HRAS H01555 Merkel cell carcinoma P04637 TP53 H01555 Merkel cell carcinoma P31749 AKT1 H01556 Meningioma P01127 PDGFB H01556 Meningioma Q12824 SMARCB1 H01556 Meningioma Q969G3 SMARCE1 H01556 Meningioma Q99835 SMO H01556 Meningioma P01116 KRAS H01557 Hepatic angiosarcoma P04637 TP53 H01557 Hepatic angiosarcoma Q6P1J9 CDC73 H01558 Parathyroid carcinoma P41180 CASR H01558 Parathyroid carcinoma P00533 EGFR H01559 Oropharyngeal cancer P04637 TP53 H01559 Oropharyngeal cancer P51681 CCR5 H01563 HIV infection P49238 CX3CR1 H01563 HIV infection Q9NNX6 CD209 H01563 HIV infection P25024 CXCR1 H01563 HIV infection P13500 CCL2 H01563 HIV infection P10147 CCL3 H01563 HIV infection P13501 CCL5 H01563 HIV infection P48061 CXCL12 H01563 HIV infection O15455 TLR3 H01563 HIV infection P41597 CCR2 H01563 HIV infection O60826 CCDC22 H01568 3C syndrome Q12768 WASHC5 H01568 3C syndrome Q9UHB7 AFF4 H01569 CHOPS syndrome Q9Y233 PDE10A H01570 Autosomal dominant striatal degeneration O95263 PDE8B H01570 Autosomal dominant striatal degeneration O95259 KCNH1 H01573 Zimmermann-Laband syndrome Q9UGI6 KCNN3 H01573 Zimmermann-Laband syndrome P21281 ATP6V1B2 H01573 Zimmermann-Laband syndrome Q5JTH9 RRP12 H01574 Familial idiopathic basal ganglia calcification P01127 PDGFB H01574 Familial idiopathic basal ganglia calcification P09619 PDGFRB H01574 Familial idiopathic basal ganglia calcification P35462 DRD3 H01577 Essential tremor P35637 FUS H01577 Essential tremor Q15555 MAPRE2 H01579 Congenital symmetric circumferential skin creases P07437 TUBB H01579 Congenital symmetric circumferential skin creases Q16719 KYNU H01583 Hydroxykynureninuria P16234 PDGFRA H01590 Chronic eosinophilic leukemia P10721 KIT H01591 Gastrotintestinal stromal tumor P16234 PDGFRA H01591 Gastrotintestinal stromal tumor P01112 HRAS H01592 Medullary thyroid cancer P01116 KRAS H01592 Medullary thyroid cancer P07949 RET H01592 Medullary thyroid cancer P04628 WNT1 H01593 Osteoporosis P30988 CALCR H01593 Osteoporosis P51843 NR0B1 H01598 Addison disease P16234 PDGFRA H01599 Hypereosinophilic syndrome Q99497 PARK7 H01600 Parkinsonian syndrome Q5S007 LRRK2 H01600 Parkinsonian syndrome Q9BXM7 PINK1 H01600 Parkinsonian syndrome P37840 SNCA H01600 Parkinsonian syndrome Q9UM73 ALK H01601 Anaplastic large-cell lymphoma P15538 CYP11B1 H01603 Primary aldosteronism P48544 KCNJ5 H01603 Primary aldosteronism P05023 ATP1A1 H01603 Primary aldosteronism Q01668 CACNA1D H01603 Primary aldosteronism O95180 CACNA1H H01603 Primary aldosteronism O60674 JAK2 H01605 Myelofibrosis P00325 ADH1B H01611 Alcohol dependence P05091 ALDH2 H01611 Alcohol dependence P47869 GABRA2 H01611 Alcohol dependence P28223 HTR2A H01611 Alcohol dependence O60674 JAK2 H01612 Essential thrombocythemia Q92793 CREBBP H01613 Follicular lymphoma Q09472 EP300 H01613 Follicular lymphoma Q15910 EZH2 H01613 Follicular lymphoma P10415 BCL2 H01613 Follicular lymphoma O14649 KCNK3 H01619 Primary pulmonary hypertension Q13873 BMPR2 H01619 Primary pulmonary hypertension P04632 CAPNS1 H01619 Primary pulmonary hypertension O14649 KCNK3 H01621 Pulmonary arterial hypertension Q9P2K8 EIF2AK4 H01621 Pulmonary arterial hypertension Q13873 BMPR2 H01621 Pulmonary arterial hypertension P04632 CAPNS1 H01621 Pulmonary arterial hypertension P37023 ACVRL1 H01621 Pulmonary arterial hypertension P20815 CYP3A5 H01633 High blood pressure P15538 CYP11B1 H01633 High blood pressure P19099 CYP11B2 H01633 High blood pressure P01019 AGT H01633 High blood pressure P30556 AGTR1 H01633 High blood pressure P42892 ECE1 H01633 High blood pressure P80365 HSD11B2 H01633 High blood pressure P08235 NR3C2 H01633 High blood pressure P29474 NOS3 H01633 High blood pressure P37088 SCNN1A H01633 High blood pressure P51168 SCNN1B H01633 High blood pressure P51170 SCNN1G H01633 High blood pressure P01130 LDLR H01635 Hyperlipidemia P06858 LPL H01635 Hyperlipidemia Q93074 MED12 H01640 Uterine leiomyoma Q8IWU9 TPH2 H01646 Major depressive disorder Q13451 FKBP5 H01646 Major depressive disorder P28223 HTR2A H01646 Major depressive disorder Q9NTZ6 RBM12 H01649 Schizophrenia P36222 CHI3L1 H01649 Schizophrenia P21964 COMT H01649 Schizophrenia P35462 DRD3 H01649 Schizophrenia P31749 AKT1 H01649 Schizophrenia P28223 HTR2A H01649 Schizophrenia P43005 SLC1A1 H01649 Schizophrenia P17861 XBP1 H01653 Bipolar disorder Q12769 NUP160 H01657 Nephrotic syndrome P52565 ARHGDIA H01657 Nephrotic syndrome Q16827 PTPRO H01657 Nephrotic syndrome Q96D53 COQ8B H01657 Nephrotic syndrome O95470 SGPL1 H01657 Nephrotic syndrome Q8N1F7 NUP93 H01657 Nephrotic syndrome P01112 HRAS H01666 Angiosarcoma P01116 KRAS H01666 Angiosarcoma P01111 NRAS H01666 Angiosarcoma P35222 CTNNB1 H01667 Medulloblastoma P25054 APC H01667 Medulloblastoma Q00987 MDM2 H01667 Medulloblastoma O00255 MEN1 H01667 Medulloblastoma P01106 MYC H01667 Medulloblastoma Q99835 SMO H01667 Medulloblastoma O14746 TERT H01667 Medulloblastoma P04637 TP53 H01667 Medulloblastoma O15550 KDM6A H01667 Medulloblastoma O95163 ELP1 H01667 Medulloblastoma P05231 IL6 H01672 Juvenile idiopathic arthritis P14174 MIF H01672 Juvenile idiopathic arthritis P01889 HLA-B H01674 Ankylosing spondylitis Q92922 SMARCC1 H01677 Congenital hydrocephalus P30518 AVPR2 H01682 Syndrome of inappropriate antidiuretic hormone secretion P30518 AVPR2 H01683 Disorders of antidiuretic hormone (ADH) secretion P04439 HLA-A H01694 Stevens-Johnson syndrome P01889 HLA-B H01694 Stevens-Johnson syndrome P34981 TRHR H01700 Hypopituitarism P04150 NR3C1 H01702 Glucocorticoid resistance syndrome P56696 KCNQ4 H01705 Bilateral sudden sensorineural hearing loss P09601 HMOX1 H01714 Chronic obstructive pulmonary disease (COPD) P03956 MMP1 H01714 Chronic obstructive pulmonary disease (COPD) Q96S44 TP53RK H01722 Galloway-Mowat syndrome Q9Y3C4 TPRKB H01722 Galloway-Mowat syndrome P01008 SERPINC1 H01723 Deep vein thrombosis P04070 PROC H01723 Deep vein thrombosis Q9ULC4 MCTS1 H01725 Primary immunodeficiency disease Q07011 TNFRSF9 H01725 Primary immunodeficiency disease O00329 PIK3CD H01725 Primary immunodeficiency disease Q6N021 TET2 H01725 Primary immunodeficiency disease P15153 RAC2 H01725 Primary immunodeficiency disease P41440 SLC19A1 H01725 Primary immunodeficiency disease Q86TI2 DPP9 H01725 Primary immunodeficiency disease P03372 ESR1 H01730 Myocardial infarction P08709 F7 H01730 Myocardial infarction P00488 F13A1 H01730 Myocardial infarction P05106 ITGB3 H01730 Myocardial infarction P05162 LGALS2 H01730 Myocardial infarction P60900 PSMA6 H01730 Myocardial infarction P15924 DSP H01737 Epidermolysis bullosa P01116 KRAS H01738 Noonan syndrome P01111 NRAS H01738 Noonan syndrome P28482 MAPK1 H01738 Noonan syndrome Q06124 PTPN11 H01738 Noonan syndrome P04049 RAF1 H01738 Noonan syndrome Q07889 SOS1 H01738 Noonan syndrome P15056 BRAF H01738 Noonan syndrome O60610 DIAPH1 H01740 Macrothrombocytopenia P08514 ITGA2B H01740 Macrothrombocytopenia P05106 ITGB3 H01740 Macrothrombocytopenia P35579 MYH9 H01740 Macrothrombocytopenia Q9NY65 TUBA8 H01740 Macrothrombocytopenia P22612 PRKACG H01740 Macrothrombocytopenia Q9H4B7 TUBB1 H01740 Macrothrombocytopenia P12814 ACTN1 H01740 Macrothrombocytopenia P28062 PSMB8 H01741 Autoinflammation lipodystrophy and dermatosis syndrome P49238 CX3CR1 H01742 Coronary artery disease O75581 LRP6 H01742 Coronary artery disease P08254 MMP3 H01742 Coronary artery disease P16885 PLCG2 H01743 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation Q9BYM8 RBCK1 H01744 Polyglucosan body myopathy P01116 KRAS H01745 Cardiofaciocutaneous syndrome Q02750 MAP2K1 H01745 Cardiofaciocutaneous syndrome P36507 MAP2K2 H01745 Cardiofaciocutaneous syndrome P15056 BRAF H01745 Cardiofaciocutaneous syndrome Q86WV6 STING1 H01746 STING-associated vasculopathy with onset in infancy P01112 HRAS H01747 Costello syndrome P22607 FGFR3 H01749 Achondroplasia P22607 FGFR3 H01750 Thanatophoric dysplasia Q15910 EZH2 H01751 Weaver syndrome P21802 FGFR2 H01753 Antley-Bixler syndrome P22607 FGFR3 H01754 Crouzon syndrome P21802 FGFR2 H01754 Crouzon syndrome P21802 FGFR2 H01755 Apert syndrome P11362 FGFR1 H01756 Pfeiffer syndrome P21802 FGFR2 H01756 Pfeiffer syndrome Q9UM47 NOTCH3 H01757 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy O43826 SLC37A4 H01760 Hepatic glycogen storage disease P46019 PHKA2 H01760 Hepatic glycogen storage disease Q93100 PHKB H01760 Hepatic glycogen storage disease P15735 PHKG2 H01760 Hepatic glycogen storage disease P06737 PYGL H01760 Hepatic glycogen storage disease P04075 ALDOA H01762 Muscle glycogen storage disease P10253 GAA H01762 Muscle glycogen storage disease P00338 LDHA H01762 Muscle glycogen storage disease V9HWB9 HEL-S-133P H01762 Muscle glycogen storage disease P46020 PHKA1 H01762 Muscle glycogen storage disease P11217 PYGM H01762 Muscle glycogen storage disease P22830 FECH H01763 Porphyria P50336 PPOX H01763 Porphyria P18583 SON H01769 ZTTK syndrome P51843 NR0B1 H01772 Adrenal hypoplasia, congenital Q13363 CTBP1 H01773 4p deletion syndrome O96028 NSD2 H01773 4p deletion syndrome Q9BQB4 SOST H01774 Hyperostosis corticalis generalisata P35523 CLCN1 H01780 Non-dystrophic myotonia P35499 SCN4A H01780 Non-dystrophic myotonia P13473 LAMP2 H01781 Autophagic vacuolar myopathy P06858 LPL H01784 Primary hyperchylomicronemia Q9Y4R8 TELO2 H01789 You-Hoover-Fong syndrome Q8WYB5 KAT6B H01793 Young-Simpson syndrome Q8WYB5 KAT6B H01794 Genitopatellar syndrome Q8WYB5 KAT6B H01795 Blepharophimosis-mental retardation syndrome Q93074 MED12 H01795 Blepharophimosis-mental retardation syndrome Q9ULW8 PADI3 H01796 Uncombable hair syndrome Q08188 TGM3 H01796 Uncombable hair syndrome Q9UHX1 PUF60 H01800 Verheij syndrome Q6PGP7 SKIC3 H01805 Tricho-hepato-enteric syndrome P07333 CSF1R H01807 Hereditary diffuse leukoencephalopathy with spheroids P49588 AARS1 H01807 Hereditary diffuse leukoencephalopathy with spheroids O00555 CACNA1A H01808 Hemiconvulsion-hemiplegia-epilepsy syndrome P50148 GNAQ H01809 Sturge-Weber syndrome Q12860 CNTN1 H01810 Congenital myopathy Q9UKX2 MYH2 H01810 Congenital myopathy P21817 RYR1 H01810 Congenital myopathy P35499 SCN4A H01810 Congenital myopathy Q8WZ42 TTN H01810 Congenital myopathy P68366 TUBA4A H01810 Congenital myopathy Q13698 CACNA1S H01810 Congenital myopathy P51114 FXR1 H01810 Congenital myopathy Q15116 PDCD1 H01812 Rasmussen encephalitis P53779 MAPK10 H01813 Lennox-Gastaut syndrome Q9H2X9 SLC12A5 H01815 Malignant migrating partial seizures in infancy Q5JUK3 KCNT1 H01815 Malignant migrating partial seizures in infancy P35498 SCN1A H01815 Malignant migrating partial seizures in infancy P35498 SCN1A H01818 Dravet syndrome P57059 SIK1 H01819 Early myoclonic encephalopathy P43004 SLC1A2 H01819 Early myoclonic encephalopathy O76039 CDKL5 H01819 Early myoclonic encephalopathy P49585 PCYT1A H01821 Spondylometaphyseal dysplasia with cone-rod dystrophy P36776 LONP1 H01824 CODAS syndrome P36969 GPX4 H01825 Spondylometaphyseal dysplasia, Sedaghatian type Q12879 GRIN2A H01827 Rolandic epilepsy, mental retardation, and speech dyspraxia O15357 INPPL1 H01828 Opsismodysplasia P48651 PTDSS1 H01832 Lenz-Majewski syndrome P04629 NTRK1 H01836 Congenital pain insensitivity with anhidrosis Q15029 EFTUD2 H01838 Mandibulofacial dysostosis with microcephaly P11362 FGFR1 H01850 Hartsfield syndrome P08151 GLI1 H01852 Postaxial polydactyly Q92959 SLCO2A1 H01853 Chronic nonspecific multiple ulcers of the small intestine Q96ST3 SIN3A H01861 Chromosome 15q24 microdeletion syndrome O00170 AIP H01864 Excessive secretion of growth hormone Q9P2K8 EIF2AK4 H01866 Pulmonary veno-occlusive disease Q13873 BMPR2 H01866 Pulmonary veno-occlusive disease Q6XUX3 DSTYK H01867 Congenital anomalies of kidney and urinary tract Q15746 MYLK H01869 Megacystis microcolon intestinal hypoperistalsis syndrome O95630 STAMBP H01872 Microcephaly-capillary malformation syndrome P52732 KIF11 H01876 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation P36544 CHRNA7 H01877 Chromosome 15q13.3 microdeletion syndrome Q96C86 DCPS H01878 Al-Raqad syndrome Q03164 KMT2A H01879 Wiedemann-Steiner syndrome O00444 PLK4 H01880 Autosomal recessive microcephaly and chorioretinopathy Q9UGJ1 TUBGCP4 H01880 Autosomal recessive microcephaly and chorioretinopathy Q13509 TUBB3 H01881 Complex cortical dysplasia with other brain malformations Q9BSJ2 TUBGCP2 H01881 Complex cortical dysplasia with other brain malformations P07437 TUBB H01881 Complex cortical dysplasia with other brain malformations Q9BVA1 TUBB2B H01881 Complex cortical dysplasia with other brain malformations Q13885 TUBB2A H01881 Complex cortical dysplasia with other brain malformations P08754 GNAI3 H01884 Auriculocondylar syndrome Q9UKV0 HDAC9 H01884 Auriculocondylar syndrome Q9Y243 AKT3 H01885 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome O00459 PIK3R2 H01885 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome P30279 CCND2 H01885 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome P48740 MASP1 H01887 3MC syndrome O75419 CDC45 H01889 Meier-Gorlin syndrome P35221 CTNNA1 H01890 Pattern dystrophies of the retinal pigment epithelium Q16644 MAPKAPK3 H01890 Pattern dystrophies of the retinal pigment epithelium Q9UNE7 STUB1 H01891 Autosomal recessive spinocerebellar ataxias Q5JRX3 PITRM1 H01891 Autosomal recessive spinocerebellar ataxias P30048 PRDX3 H01891 Autosomal recessive spinocerebellar ataxias Q13255 GRM1 H01891 Autosomal recessive spinocerebellar ataxias O95551 TDP2 H01891 Autosomal recessive spinocerebellar ataxias Q9NUW8 TDP1 H01891 Autosomal recessive spinocerebellar ataxias Q8NI60 COQ8A H01891 Autosomal recessive spinocerebellar ataxias P19634 SLC9A1 H01891 Autosomal recessive spinocerebellar ataxias Q9Y6K1 DNMT3A H01892 Peripheral T cell lymphoma Q9UM73 ALK H01892 Peripheral T cell lymphoma O75874 IDH1 H01892 Peripheral T cell lymphoma P48735 IDH2 H01892 Peripheral T cell lymphoma Q6N021 TET2 H01892 Peripheral T cell lymphoma Q9UM47 NOTCH3 H01893 Lateral meningocele syndrome O75439 PMPCB H01894 Multiple mitochondrial dysfunctions syndrome Q8IWU9 TPH2 H01895 Attention deficit hyperactivity disorder (ADHD) P21917 DRD4 H01895 Attention deficit hyperactivity disorder (ADHD) P21918 DRD5 H01895 Attention deficit hyperactivity disorder (ADHD) O14757 CHEK1 H01897 Oocyte/zygote/embryo maturation arrest P60852 ZP1 H01897 Oocyte/zygote/embryo maturation arrest Q3ZCM7 TUBB8 H01897 Oocyte/zygote/embryo maturation arrest P0C1S8 WEE2 H01897 Oocyte/zygote/embryo maturation arrest P68366 TUBA4A H01897 Oocyte/zygote/embryo maturation arrest Q9BQE3 TUBA1C H01897 Oocyte/zygote/embryo maturation arrest Q15645 TRIP13 H01897 Oocyte/zygote/embryo maturation arrest Q8N9N2 ASCC1 H01901 Barrett esophagus P53701 HCCS H01904 Microphthalmia with linear skin defects syndrome Q9NX14 NDUFB11 H01904 Microphthalmia with linear skin defects syndrome P31751 AKT2 H01909 Hypoinsulinemic hypoglycemia with hemihypertrophy Q9UM47 NOTCH3 H01910 Infantile myofibromatosis P09619 PDGFRB H01910 Infantile myofibromatosis P42336 PIK3CA H01912 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi O14936 CASK H01921 MICPCH syndrome Q5SWA1 PPP1R15B H01923 Microcephaly, short stature, and impaired glucose metabolism P42345 MTOR H01928 Smith-Kingsmore syndrome P61978 HNRNPK H01930 Au-Kline syndrome O15111 CHUK H01931 Lethal-type popliteal pterygium syndrome P14324 FDPS H01933 Porokeratosis Q14973 SLC10A1 H01935 Familial hypercholanemia Q15043 SLC39A14 H01938 Hypermanganesemia with dystonia O43826 SLC37A4 H01939 Glycogen storage disease type I P10253 GAA H01940 Glycogen storage disease type II P11217 PYGM H01943 Glycogen storage disease type V P06737 PYGL H01944 Glycogen storage disease type VI P00338 LDHA H01946 Glycogen storage disease type XI V9HWB9 HEL-S-133P H01946 Glycogen storage disease type XI P11168 SLC2A2 H01947 Fanconi-Bickel syndrome P46020 PHKA1 H01948 Glycogen storage disease type IX P46019 PHKA2 H01948 Glycogen storage disease type IX Q93100 PHKB H01948 Glycogen storage disease type IX P15735 PHKG2 H01948 Glycogen storage disease type IX P04075 ALDOA H01952 Glycogen storage disease type XII Q9UGJ0 PRKAG2 H01956 Glycogen storage disease of heart Q99575 POP1 H01967 Anauxetic dysplasia P40763 STAT3 H01968 Hyper-IgE syndrome P42226 STAT6 H01968 Hyper-IgE syndrome P29597 TYK2 H01968 Hyper-IgE syndrome P98170 XIAP H01969 X-linked lymphoproliferative syndrome Q08881 ITK H01970 Lymphoproliferative syndrome P31483 TIA1 H01975 Welander distal myopathy Q8WZ42 TTN H01976 Tibial muscular dystrophy O15554 KCNN4 H01978 Dehydrated hereditary stomatocytosis P50416 CPT1A H01981 Carnitine palmitoyltransferase I deficiency P23786 CPT2 H01982 Carnitine palmitoyltransferase II deficiency Q06124 PTPN11 H01984 Leopard syndrome P04049 RAF1 H01984 Leopard syndrome P15056 BRAF H01984 Leopard syndrome P08581 MET H01985 Desmoplastic small round cell tumor P42336 PIK3CA H01985 Desmoplastic small round cell tumor O95163 ELP1 H01987 Familial dysautonomia P11362 FGFR1 H01988 Jackson-Weiss syndrome P21802 FGFR2 H01988 Jackson-Weiss syndrome P21802 FGFR2 H01989 Beare-Stevenson syndrome P22607 FGFR3 H01990 Muenke syndrome P21802 FGFR2 H01991 Saethre-Chotzen syndrome P08559 PDHA1 H01997 Pyruvate dehydrogenase E1-alpha deficiency P10515 DLAT H01999 Pyruvate dehydrogenase E2 deficiency P11166 SLC2A1 H02002 Cryohydrocytosis O00330 PDHX H02003 Pyruvate dehydrogenase E3-binding protein deficiency P31040 SDHA H02005 Mitochondrial complex II deficiency Q02218 OGDH H02006 Alpha-ketoglutarate dehydrogenase complex deficiency P51570 GALK1 H02009 Galactokinase deficiency Q14376 GALE H02010 Galactose epimerase deficiency P61619 SEC61A1 H02011 Familial juvenile hyperuricemic nephropathy P00797 REN H02011 Familial juvenile hyperuricemic nephropathy P07911 UMOD H02011 Familial juvenile hyperuricemic nephropathy P07911 UMOD H02012 Medullary cystic kidney disease P12004 PCNA H02014 Ataxia-telangiectasia-like syndrome P06865 HEXA H02016 Tay-Sachs disease P07686 HEXB H02017 Sandhoff disease Q969F8 KISS1R H02018 Central precocious puberty P22888 LHCGR H02019 Familial male-limited precocious puberty P11511 CYP19A1 H02020 Aromatase deficiency Q92925 SMARCD2 H02024 Neutrophil specific granule deficiency P05164 MPO H02025 Myeloperoxidase deficiency P53680 AP2S1 H02026 Familial hypocalciuric hypercalcemia P29992 GNA11 H02026 Familial hypocalciuric hypercalcemia P41180 CASR H02026 Familial hypocalciuric hypercalcemia Q9H1D0 TRPV6 H02030 Neonatal hyperparathyroidism P41180 CASR H02030 Neonatal hyperparathyroidism P09651 HNRNPA1 H02031 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia P22626 HNRNPA2B1 H02031 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia P55072 VCP H02031 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Q02643 GHRHR H02035 Isolated growth hormone deficiency Q06187 BTK H02035 Isolated growth hormone deficiency Q10570 CPSF1 H02041 Myopia P58215 LOXL3 H02041 Myopia P54760 EPHB4 H02043 Capillary malformation-arteriovenous malformation Q02763 TEK H02044 Cutaneous and mucosal venous malformation O75369 FLNB H02048 Larsen syndrome O60341 KDM1A H02049 Bilateral macronodular adrenal hyperplasia P25054 APC H02049 Bilateral macronodular adrenal hyperplasia Q01718 MC2R H02049 Bilateral macronodular adrenal hyperplasia O00255 MEN1 H02049 Bilateral macronodular adrenal hyperplasia Q9HCR9 PDE11A H02049 Bilateral macronodular adrenal hyperplasia P17612 PRKACA H02049 Bilateral macronodular adrenal hyperplasia P53634 CTSC H02050 Prepubertal periodontitis P35579 MYH9 H02051 May-Hegglin anomaly P35579 MYH9 H02052 Sebastian syndrome P35579 MYH9 H02053 Fechtner syndrome P22309 UGT1A1 H02054 Crigler-Najjar syndrome P22309 UGT1A1 H02055 Gilbert syndrome Q92887 ABCC2 H02056 Dubin-Johnson syndrome Q9Y6L6 SLCO1B1 H02057 Rotor syndrome Q9NPD5 SLCO1B3 H02057 Rotor syndrome P03372 ESR1 H02061 Estrogen resistance syndrome Q9HBA0 TRPV4 H02062 Familial digital arthropathy-brachydactyly O75369 FLNB H02064 Atelosteogenesis type I and III P02458 COL2A1 H02066 Achondrogenesis type II O75369 FLNB H02067 Boomerang dysplasia P22607 FGFR3 H02068 Hypochondroplasia P22607 FGFR3 H02069 SADDAN P02458 COL2A1 H02070 Kniest dysplasia P02458 COL2A1 H02071 Czech dysplasia P02458 COL2A1 H02072 Stickler syndrome Q13177 PAK2 H02074 Knobloch syndrome Q9Y5X4 NR2E3 H02075 Enhanced S-cone syndrome P08574 CYC1 H02086 Mitochondrial complex III deficiency P22695 UQCRC2 H02086 Mitochondrial complex III deficiency Q16719 KYNU H02087 Vertebral, cardiac, renal, and limb defects syndrome P50281 MMP14 H02089 Winchester syndrome P15382 KCNE1 H02091 Jervell and Lange-Nielsen syndrome P51787 KCNQ1 H02091 Jervell and Lange-Nielsen syndrome P15924 DSP H02094 Carvajal syndrome O75616 ERAL1 H02095 Perrault syndrome P51659 HSD17B4 H02095 Perrault syndrome Q15067 ACOX1 H02096 Peroxisomal acyl-CoA oxidase deficiency P51659 HSD17B4 H02098 D-bifunctional protein deficiency P29120 PCSK1 H02105 Prohormone convertase 1/3 deficiency O60266 ADCY3 H02106 Genetic obesity P07550 ADRB2 H02106 Genetic obesity P13945 ADRB3 H02106 Genetic obesity Q5NUL3 FFAR4 H02106 Genetic obesity P41968 MC3R H02106 Genetic obesity P32245 MC4R H02106 Genetic obesity P29120 PCSK1 H02106 Genetic obesity P22413 ENPP1 H02106 Genetic obesity Q9UBU3 GHRL H02106 Genetic obesity P37231 PPARG H02106 Genetic obesity Q9C0B1 FTO H02106 Genetic obesity P06730 EIF4E H02111 Autism Q9HCK8 CHD8 H02111 Autism P27635 RPL10 H02111 Autism O43175 PHGDH H02117 Neu-Laxova syndrome Q9Y617 PSAT1 H02117 Neu-Laxova syndrome P31749 AKT1 H02119 Proteus syndrome Q9H093 NUAK2 H02120 Anencephaly P56192 MARS1 H02124 Interstitial lung and liver disease Q59H18 TNNI3K H02125 Cardiac conduction disease with or without dilated cardiomyopathy P25101 EDNRA H02126 Mandibulofacial dysostosis with alopecia P20309 CHRM3 H02129 Prune belly syndrome O60610 DIAPH1 H02132 Microcephaly syndrome P22459 KCNA4 H02132 Microcephaly syndrome P47897 QARS1 H02132 Microcephaly syndrome Q15800 MSMO1 H02132 Microcephaly syndrome Q969M3 YIPF5 H02132 Microcephaly syndrome P49589 CARS1 H02132 Microcephaly syndrome P22413 ENPP1 H02139 Autosomal recessive hypophosphatemic rickets P47870 GABRB2 H02150 Infantile or early childhood epileptic encephalopathy Q08209 PPP3CA H02150 Infantile or early childhood epileptic encephalopathy P22309 UGT1A1 H02152 Transient familial neonatal hyperbilirubinemia P42336 PIK3CA H02153 Megalencephaly-capillary malformation syndrome Q14332 FZD2 H02154 Omodysplasia Q96PY6 NEK1 H02157 Short-rib thoracic dysplasia Q96P20 NLRP3 H02159 Familial cold autoinflammatory syndrome P16885 PLCG2 H02159 Familial cold autoinflammatory syndrome P53701 HCCS H02170 Microphthalmia, syndromic Q6W2J9 BCOR H02170 Microphthalmia, syndromic P10826 RARB H02170 Microphthalmia, syndromic Q9BX79 STRA6 H02170 Microphthalmia, syndromic P12644 BMP4 H02170 Microphthalmia, syndromic P41227 NAA10 H02170 Microphthalmia, syndromic P10275 AR H02175 Hypospadias P10275 AR H02177 Androgen insensitivity syndrome P32004 L1CAM H02178 MASA syndrome Q9HBA0 TRPV4 H02183 Parastremmatic dwarfism Q9HBA0 TRPV4 H02184 Metatropic dysplasia P02458 COL2A1 H02185 Spondylometaphyseal dysplasia P02751 FN1 H02185 Spondylometaphyseal dysplasia Q13237 PRKG2 H02185 Spondylometaphyseal dysplasia Q9HBA0 TRPV4 H02185 Spondylometaphyseal dysplasia O43822 CFAP410 H02185 Spondylometaphyseal dysplasia Q9HBA0 TRPV4 H02186 Spondyloepiphyseal dysplasia, Maroteaux type P02458 COL2A1 H02187 Spondyloepimetaphyseal dysplasia Q9Y2K2 SIK3 H02187 Spondyloepimetaphyseal dysplasia P45452 MMP13 H02187 Spondyloepimetaphyseal dysplasia Q9NR45 NANS H02187 Spondyloepimetaphyseal dysplasia P26373 RPL13 H02187 Spondyloepimetaphyseal dysplasia Q96HY6 DDRGK1 H02187 Spondyloepimetaphyseal dysplasia O95831 AIFM1 H02187 Spondyloepimetaphyseal dysplasia P22681 CBL H02190 CBL syndrome O95342 ABCB11 H02192 Benign recurrent intrahepatic cholestasis P35916 FLT4 H02199 Congenital heart defects, multiple type Q15796 SMAD2 H02199 Congenital heart defects, multiple type P24468 NR2F2 H02199 Congenital heart defects, multiple type Q69YQ0 SPECC1L H02202 Oblique facial cleft Q9BZ23 PANK2 H02208 Pantothenate kinase-associated neurodegeneration Q9BZ23 PANK2 H02209 HARP syndrome Q08499 PDE4D H02211 Acrodysostosis Q9NY46 SCN3A H02214 Familial focal epilepsy with variable foci P14867 GABRA1 H02215 Childhood absence epilepsy P28472 GABRB3 H02215 Childhood absence epilepsy P18507 GABRG2 H02215 Childhood absence epilepsy O95180 CACNA1H H02215 Childhood absence epilepsy P51788 CLCN2 H02216 Juvenile absence epilepsy P51788 CLCN2 H02217 Juvenile myoclonic epilepsy Q9UPZ9 CILK1 H02217 Juvenile myoclonic epilepsy P14867 GABRA1 H02217 Juvenile myoclonic epilepsy O14764 GABRD H02217 Juvenile myoclonic epilepsy O00305 CACNB4 H02217 Juvenile myoclonic epilepsy P21281 ATP6V1B2 H02219 DDOD syndrome P61966 AP1S1 H02220 MEDNIK syndrome Q06830 PRDX1 H02221 Methylmalonic aciduria and homocystinuria P51610 HCFC1 H02222 Methylmalonic acidemia and hyperhomocysteinemia, cblX type P05783 KRT18 H02225 Familial cirrhosis O43318 MAP3K7 H02226 Cardiospondylocarpofacial syndrome P21333 FLNA H02227 Frontometaphyseal dysplasia O43318 MAP3K7 H02227 Frontometaphyseal dysplasia P21333 FLNA H02229 Terminal osseous dysplasia P21333 FLNA H02230 X-linked cardiac valvular dysplasia Q9NSE4 IARS2 H02232 CAGSSS syndrome Q4G0J3 LARP7 H02233 Alazami syndrome P48051 KCNJ6 H02236 Keppen-Lubinsky syndrome P23109 AMPD1 H02237 AMP deaminase deficiency Q01432 AMPD3 H02237 AMP deaminase deficiency Q8N9N2 ASCC1 H02238 Spinal muscular atrophy with congenital bone fractures P00736 C1R H02240 Ehlers-Danlos syndrome periodontal type P09871 C1S H02240 Ehlers-Danlos syndrome periodontal type Q15125 EBP H02248 MEND syndrome Q12797 ASPH H02255 FDLAB syndrome P08709 F7 H02256 Factor VII deficiency P00742 F10 H02257 Factor X deficiency Q13586 STIM1 H02258 Tubular aggregate myopathy Q96D31 ORAI1 H02258 Tubular aggregate myopathy Q13586 STIM1 H02259 Stormorken syndrome Q9UBN7 HDAC6 H02260 Chondrodysplasia Chassaing-Lacombe type Q9BTW9 TBCD H02261 PEBAT Q8NET8 TRPV3 H02263 Focal nonepidermolytic palmoplantar keratoderma Q9Y4W2 LAS1L H02267 Wilson-Turner syndrome P04899 GNAI2 H02269 Familial ventricular tachycardia P13637 ATP1A3 H02272 CAPOS syndrome Q8N766 EMC1 H02274 Cerebellar atrophy, visual impairment, and psychomotor retardation Q9UBX1 CTSF H02276 Kufs disease P07339 CTSD H02279 Neuronal ceroid lipofuscinosis due to Cathepsin D deficiency Q6NXT6 TAPT1 H02280 Complex lethal osteochondrodysplasia Q14571 ITPR2 H02281 Isolated anhidrosis with normal sweat glands Q16873 LTC4S H02284 Leukotriene C4 synthase deficiency P51572 BCAP31 H02287 Deafness, dystonia, and cerebral hypomyelination P02753 RBP4 H02291 Retinal dystrophy, iris coloboma, and comedogenic acne syndrome Q9Y6K1 DNMT3A H02294 Tatton-Brown-Rahman syndrome P42336 PIK3CA H02297 CLAPO syndrome Q13263 TRIM28 H02301 Nephroblastoma P35222 CTNNB1 H02301 Nephroblastoma P04637 TP53 H02301 Nephroblastoma P35222 CTNNB1 H02302 Hepatoblastoma P25054 APC H02302 Hepatoblastoma P48449 LSS H02303 Alopecia-mental retardation syndrome Q9UBC3 DNMT3B H02308 Immunodeficiency-centromeric instability-facial anomalies syndrome P00813 ADA H02309 Adenosine deaminase deficiency P08235 NR3C2 H02310 Renal tubular acidosis P15313 ATP6V1B1 H02310 Renal tubular acidosis P37088 SCNN1A H02310 Renal tubular acidosis P51168 SCNN1B H02310 Renal tubular acidosis P51170 SCNN1G H02310 Renal tubular acidosis Q9H4A3 WNK1 H02310 Renal tubular acidosis Q96J92 WNK4 H02310 Renal tubular acidosis P00918 CA2 H02310 Renal tubular acidosis Q13618 CUL3 H02310 Renal tubular acidosis Q13285 NR5A1 H02316 Adrenal insufficiency, NR5A1 related Q14839 CHD4 H02328 Sifrim-Hitz-Weiss syndrome P11150 LIPC H02329 Hepatic lipase deficiency P16233 PNLIP H02330 Pancreatic lipase deficiency P42356 PI4KA H02331 Gastrointestinal defects and immunodeficiency syndrome P08151 GLI1 H02332 Preaxial polydactyly Q9BZK7 TBL1XR1 H02334 Pierpont syndrome Q9H7D7 WDR26 H02337 Skraban-Deardorff syndrome Q9BTV4 TMEM43 H02339 Auditory neuropathy Q96PN6 ADCY10 H02340 Absorptive hypercalciuria Q9Y5X4 NR2E3 H02341 Goldmann-Favre syndrome Q9UHD2 TBK1 H02342 Frontotemporal dementia and amyotrophic lateral sclerosis P55072 VCP H02342 Frontotemporal dementia and amyotrophic lateral sclerosis Q13501 SQSTM1 H02342 Frontotemporal dementia and amyotrophic lateral sclerosis P38646 HSPA9 H02343 EVEN-plus syndrome O95831 AIFM1 H02344 Cowchock syndrome O43427 FIBP H02347 Thauvin-Robinet-Faivre syndrome P30531 SLC6A1 H02361 Myoclonic-atonic epilepsy Q99250 SCN2A H02362 Benign familial infantile seizure Q9UQD0 SCN8A H02362 Benign familial infantile seizure P35251 RFC1 H02366 Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome Q9GZN0 GPR88 H02367 Chorea, childhood-onset, with psychomotor retardation Q13393 PLD1 H02375 Cardiac valvular dysplasia O60341 KDM1A H02381 Cleft palate, psychomotor retardation, and distinctive facial features Q9Y463 DYRK1B H02384 Abdominal obesity-metabolic syndrome Q9Y233 PDE10A H02388 Infantile-onset limb and orofacial dyskinesia O95622 ADCY5 H02389 Familial dyskinesia with facial myokymia P49773 HINT1 H02390 Autosomal recessive neuromyotonia and axonal neuropathy P54577 YARS1 H02391 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease Q8NHU3 SGMS2 H02395 Calvarial doughnut lesions with bone fragility Q92643 PIGK H02397 Neurodevelopmental disorder with movement abnormalities or hypotonia O95622 ADCY5 H02397 Neurodevelopmental disorder with movement abnormalities or hypotonia P29692 EEF1D H02397 Neurodevelopmental disorder with movement abnormalities or hypotonia Q9H2S1 KCNN2 H02397 Neurodevelopmental disorder with movement abnormalities or hypotonia Q5SXM2 SNAPC4 H02397 Neurodevelopmental disorder with movement abnormalities or hypotonia Q9Y6K1 DNMT3A H02410 Myelodysplastic/myeloproliferative neoplasms Q15910 EZH2 H02410 Myelodysplastic/myeloproliferative neoplasms O75874 IDH1 H02410 Myelodysplastic/myeloproliferative neoplasms P48735 IDH2 H02410 Myelodysplastic/myeloproliferative neoplasms O60674 JAK2 H02410 Myelodysplastic/myeloproliferative neoplasms P01116 KRAS H02410 Myelodysplastic/myeloproliferative neoplasms P01111 NRAS H02410 Myelodysplastic/myeloproliferative neoplasms Q6N021 TET2 H02410 Myelodysplastic/myeloproliferative neoplasms Q06124 PTPN11 H02410 Myelodysplastic/myeloproliferative neoplasms Q01130 SRSF2 H02410 Myelodysplastic/myeloproliferative neoplasms Q01081 U2AF1 H02410 Myelodysplastic/myeloproliferative neoplasms Q01196 RUNX1 H02410 Myelodysplastic/myeloproliferative neoplasms P22681 CBL H02410 Myelodysplastic/myeloproliferative neoplasms Q9Y6K1 DNMT3A H02411 Chronic myelomonocytic leukemia Q15910 EZH2 H02411 Chronic myelomonocytic leukemia P36888 FLT3 H02411 Chronic myelomonocytic leukemia O60674 JAK2 H02411 Chronic myelomonocytic leukemia P01116 KRAS H02411 Chronic myelomonocytic leukemia P06748 NPM1 H02411 Chronic myelomonocytic leukemia P01111 NRAS H02411 Chronic myelomonocytic leukemia Q6N021 TET2 H02411 Chronic myelomonocytic leukemia Q01130 SRSF2 H02411 Chronic myelomonocytic leukemia P04637 TP53 H02411 Chronic myelomonocytic leukemia Q01081 U2AF1 H02411 Chronic myelomonocytic leukemia Q01196 RUNX1 H02411 Chronic myelomonocytic leukemia P22681 CBL H02411 Chronic myelomonocytic leukemia Q15910 EZH2 H02412 Atypical chronic myeloid leukemia P36888 FLT3 H02412 Atypical chronic myeloid leukemia P48735 IDH2 H02412 Atypical chronic myeloid leukemia O60674 JAK2 H02412 Atypical chronic myeloid leukemia P01116 KRAS H02412 Atypical chronic myeloid leukemia P01111 NRAS H02412 Atypical chronic myeloid leukemia Q6N021 TET2 H02412 Atypical chronic myeloid leukemia Q01130 SRSF2 H02412 Atypical chronic myeloid leukemia Q01196 RUNX1 H02412 Atypical chronic myeloid leukemia P22681 CBL H02412 Atypical chronic myeloid leukemia Q9UM00 TMCO1 H02415 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Q9BUV8 RAB5IF H02415 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Q92851 CASP10 H02418 Non-Hodgkin lymphoma P48067 SLC6A9 H02419 Glycine encephalopathy with normal serum glycine Q6UX04 CWC27 H02422 Retinitis pigmentosa with skeletal anomalies P40259 CD79B H02424 Primary central nervous system lymphoma P10398 ARAF H02425 Erdheim-Chester disease P01116 KRAS H02425 Erdheim-Chester disease P01111 NRAS H02425 Erdheim-Chester disease Q02750 MAP2K1 H02425 Erdheim-Chester disease P36507 MAP2K2 H02425 Erdheim-Chester disease P15056 BRAF H02425 Erdheim-Chester disease P06276 BCHE H02432 Butyrylcholinesterase deficiency P14868 DARS1 H02433 Hypomyelination with brainstem and spinal cord involvement and leg spasticity Q92793 CREBBP H02434 Diffuse large B-cell lymphoma, not otherwise specified Q09472 EP300 H02434 Diffuse large B-cell lymphoma, not otherwise specified Q15910 EZH2 H02434 Diffuse large B-cell lymphoma, not otherwise specified P01106 MYC H02434 Diffuse large B-cell lymphoma, not otherwise specified P10415 BCL2 H02434 Diffuse large B-cell lymphoma, not otherwise specified P41182 BCL6 H02434 Diffuse large B-cell lymphoma, not otherwise specified P04637 TP53 H02434 Diffuse large B-cell lymphoma, not otherwise specified P19256 CD58 H02434 Diffuse large B-cell lymphoma, not otherwise specified P40259 CD79B H02434 Diffuse large B-cell lymphoma, not otherwise specified P41252 IARS1 H02437 Growth retardation, impaired intellectual development, hypotonia, and hepatopathy P29401 TKT H02439 Short stature, developmental delay, congenital heart defect P39877 PLA2G5 H02440 Fleck retina, familial benign Q9BYW2 SETD2 H02444 Luscan-Lumish syndrome Q9NVI7 ATAD3A H02448 Harel-Yoon syndrome Q15139 PRKD1 H02453 Congenital heart defects and ectodermal dysplasia Q14004 CDK13 H02454 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder Q9BQI3 EIF2AK1 H02457 Developmental delay, leukoencephalopathy, and neurologic decompensation P19525 EIF2AK2 H02457 Developmental delay, leukoencephalopathy, and neurologic decompensation P32004 L1CAM H02458 Hydrocephalus due to congenital stenosis of aqueduct of Sylvius P49366 DHPS H02459 Syndromic neurodevelopmental disorder Q7L2E3 DHX30 H02459 Syndromic neurodevelopmental disorder Q14444 CAPRIN1 H02459 Syndromic neurodevelopmental disorder P35790 CHKA H02461 Neurodevelopmental disorder with microcephaly Q9NXE4 SMPD4 H02461 Neurodevelopmental disorder with microcephaly Q86TP1 PRUNE1 H02461 Neurodevelopmental disorder with microcephaly Q9Y263 PLAA H02461 Neurodevelopmental disorder with microcephaly O43156 TTI1 H02461 Neurodevelopmental disorder with microcephaly P49336 CDK8 H02463 Syndromic intellectual developmental disorder Q9UPS6 SETD1B H02463 Syndromic intellectual developmental disorder Q13153 PAK1 H02463 Syndromic intellectual developmental disorder O00408 PDE2A H02463 Syndromic intellectual developmental disorder Q9NXG6 P4HTM H02463 Syndromic intellectual developmental disorder P35398 RORA H02463 Syndromic intellectual developmental disorder P55201 BRPF1 H02463 Syndromic intellectual developmental disorder O75909 CCNK H02463 Syndromic intellectual developmental disorder Q12767 TMEM94 H02463 Syndromic intellectual developmental disorder Q9NSD9 FARSB H02466 Rajab interstitial lung disease with brain calcification Q9Y285 FARSA H02466 Rajab interstitial lung disease with brain calcification P00533 EGFR H02467 Neonatal inflammatory skin and bowel disease P78536 ADAM17 H02467 Neonatal inflammatory skin and bowel disease P19367 HK1 H02470 Neurodevelopmental disorder with structural brain abnormalities Q9C0E8 LNPK H02470 Neurodevelopmental disorder with structural brain abnormalities Q92974 ARHGEF2 H02470 Neurodevelopmental disorder with structural brain abnormalities O60716 CTNND1 H02474 Blepharocheilodontic syndrome P17480 UBTF H02476 Childhood-onset neurodegeneration with brain atrophy O75530 EED H02477 Cohen-Gibson syndrome A2RRP1 NBAS H02481 Syndromic disorder with short stature Q9NVM4 PRMT7 H02481 Syndromic disorder with short stature P09884 POLA1 H02484 X-linked reticulate pigmentary disorder with systemic manifestations Q15131 CDK10 H02493 Al Kaissi syndrome P38919 EIF4A3 H02503 Richieri-Costa-Pereira syndrome P47712 PLA2G4A H02504 Gastrointestinal ulceration, recurrent, with dysfunctional platelets Q8NBP7 PCSK9 H02505 Atherosclerosis P04114 APOB H02505 Atherosclerosis P01130 LDLR H02505 Atherosclerosis O75581 LRP6 H02505 Atherosclerosis P17612 PRKACA H02506 Cardioacrofacial dysplasia P22694 PRKACB H02506 Cardioacrofacial dysplasia P28288 ABCD3 H02513 Oculopharyngodistal myopathy Q9H7Z6 KAT8 H02515 Li-Ghorbani-Weisz-Hubshman syndrome Q8NET8 TRPV3 H02517 Olmsted syndrome Q9Y2H9 MAST1 H02519 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations Q16822 PCK2 H02520 Phosphoenolpyruvate carboxykinase deficiency Q15022 SUZ12 H02522 Imagawa-Matsumoto syndrome Q96EP0 RNF31 H02525 Disorders of innate immunity P01375 TNF H02525 Disorders of innate immunity Q13546 RIPK1 H02525 Disorders of innate immunity O95267 RASGRP1 H02526 Disorders of adaptive immunity Q13094 LCP2 H02526 Disorders of adaptive immunity P43405 SYK H02526 Disorders of adaptive immunity P02786 TFRC H02526 Disorders of adaptive immunity P29144 TPP2 H02526 Disorders of adaptive immunity Q8TCT8 SPPL2A H02526 Disorders of adaptive immunity Q13432 UNC119 H02526 Disorders of adaptive immunity P01730 CD4 H02526 Disorders of adaptive immunity Q8NFF5 FLAD1 H02527 Lipid storage myopathy due to FLAD1 deficiency Q93009 USP7 H02528 Hao-Fountain syndrome P11766 ADH5 H02529 Bone marrow failure syndrome Q8NEW0 SLC30A7 H02529 Bone marrow failure syndrome P33316 DUT H02529 Bone marrow failure syndrome O15151 MDM4 H02529 Bone marrow failure syndrome O76094 SRP72 H02529 Bone marrow failure syndrome P04637 TP53 H02529 Bone marrow failure syndrome Q05823 RNASEL H02530 Hereditary prostate cancer P28070 PSMB4 H02532 Proteasome-associated autoinflammatory syndrome P28062 PSMB8 H02532 Proteasome-associated autoinflammatory syndrome P28065 PSMB9 H02532 Proteasome-associated autoinflammatory syndrome P40306 PSMB10 H02532 Proteasome-associated autoinflammatory syndrome Q07955 SRSF1 H02535 Neurodevelopmental disorder with dysmorphic facies Q9Y5Q9 GTF3C3 H02535 Neurodevelopmental disorder with dysmorphic facies P23786 CPT2 H02536 Infection-induced acute encephalopathy Q9UHD2 TBK1 H02536 Infection-induced acute encephalopathy O15455 TLR3 H02536 Infection-induced acute encephalopathy Q9H1C4 UNC93B1 H02536 Infection-induced acute encephalopathy P23458 JAK1 H02537 Autoinflammation, immune dysregulation, and eosinophilia P31040 SDHA H02538 Pheochromocytoma/paraganglioma syndrome Q02978 SLC25A11 H02538 Pheochromocytoma/paraganglioma syndrome Q9NZQ7 CD274 H02540 Infantile-onset multisystem autoimmune disease Q15116 PDCD1 H02540 Infantile-onset multisystem autoimmune disease P40763 STAT3 H02540 Infantile-onset multisystem autoimmune disease P43403 ZAP70 H02540 Infantile-onset multisystem autoimmune disease Q13191 CBLB H02540 Infantile-onset multisystem autoimmune disease P01116 KRAS H02541 Juvenile myelomonocytic leukemia P01111 NRAS H02541 Juvenile myelomonocytic leukemia Q06124 PTPN11 H02541 Juvenile myelomonocytic leukemia P22681 CBL H02541 Juvenile myelomonocytic leukemia Q14980 NUMA1 H02542 Acute promyelocytic leukemia P10276 RARA H02542 Acute promyelocytic leukemia P20594 NPR2 H02543 Acromesomelic dysplasia Q13237 PRKG2 H02543 Acromesomelic dysplasia O00238 BMPR1B H02543 Acromesomelic dysplasia P48775 TDO2 H02545 Hypertryptophanemia O15382 BCAT2 H02546 Hypervalinemia and hyperleucine-isoleucinemia Q96P20 NLRP3 H02555 Muckle-Wells syndrome Q96P20 NLRP3 H02556 CINCA syndrome P07101 TH H02557 Dopa-responsive dystonia P12821 ACE H02559 Microvascular complications of diabetes P18510 IL1RN H02559 Microvascular complications of diabetes P15692 VEGFA H02559 Microvascular complications of diabetes Q16531 DDB1 H02560 White-Kernohan syndrome P13500 CCL2 H02563 Neural tube defects O14764 GABRD H02564 Generalized epilepsy with febrile seizures plus P18507 GABRG2 H02564 Generalized epilepsy with febrile seizures plus O60741 HCN1 H02564 Generalized epilepsy with febrile seizures plus Q9UL51 HCN2 H02564 Generalized epilepsy with febrile seizures plus P35498 SCN1A H02564 Generalized epilepsy with febrile seizures plus Q07699 SCN1B H02564 Generalized epilepsy with febrile seizures plus P52701 MSH6 H02565 Hereditary nonpolyposis colorectal cancer P16422 EPCAM H02565 Hereditary nonpolyposis colorectal cancer P43246 MSH2 H02565 Hereditary nonpolyposis colorectal cancer P37173 TGFBR2 H02565 Hereditary nonpolyposis colorectal cancer P43246 MSH2 H02566 Muir-Torre syndrome Q00796 SORD H02567 Sorbitol dehydrogenase deficiency with peripheral neuropathy P27694 RPA1 H02569 Pulmonary fibrosis and/or bone marrow failure, telomere-related O14746 TERT H02569 Pulmonary fibrosis and/or bone marrow failure, telomere-related Q96HR8 NAF1 H02569 Pulmonary fibrosis and/or bone marrow failure, telomere-related P07992 ERCC1 H02570 Cerebro-oculo-facio-skeletal syndrome P18074 ERCC2 H02570 Cerebro-oculo-facio-skeletal syndrome P28715 ERCC5 H02570 Cerebro-oculo-facio-skeletal syndrome P24928 POLR2A H02571 Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities Q9NUW8 TDP1 H02573 Autosomal recessive spinocerebellar ataxias with axonal neuropathy Q02880 TOP2B H02574 BILU syndrome Q14566 MCM6 H02575 Lactose intolerance, adult type Q13535 ATR H02576 Familial cutaneous telangiectasia and cancer syndrome P48643 CCT5 H02580 Hereditary sensory neuropathy with spastic paraplegia Q9UJX3 ANAPC7 H02584 Ferguson-Bonni neurodevelopmental syndrome O00329 PIK3CD H02585 Roifman-Chitayat syndrome Q13501 SQSTM1 H02586 Distal myopathy with rimmed vacuoles O75083 WDR1 H02589 Periodic fever, immunodeficiency, and thrombocytopenia syndrome Q04206 RELA H02592 Familial Behcet-like autoinflammatory syndrome Q04206 RELA H02593 Chronic mucocutaneous ulceration Q9BUF5 TUBB6 H02594 Congenital facial palsy with ptosis and velopharyngeal dysfunction O00443 PIK3C2A H02595 Oculoskeletodental syndrome P50416 CPT1A H02596 Disorders of carnitine transport and the carnitine cycle P23786 CPT2 H02596 Disorders of carnitine transport and the carnitine cycle Q9BSJ2 TUBGCP2 H02606 Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures Q9BQB4 SOST H02609 Craniodiaphyseal dysplasia Q96T58 SPEN H02612 Radio-Tartaglia syndrome Q14839 CHD4 H02616 Neurodevelopmental disorder with macrocephaly Q8WXI9 GATAD2B H02616 Neurodevelopmental disorder with macrocephaly Q13363 CTBP1 H02619 Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome Q13546 RIPK1 H02620 Autoinflammation with episodic fever and lymphadenopathy Q9Y6K9 IKBKG H02621 X-linked systemic autoinflammatory disease O96017 CHEK2 H02624 Tumor predisposition syndrome P22607 FGFR3 H02627 Epidermal nevus P01112 HRAS H02627 Epidermal nevus P01111 NRAS H02627 Epidermal nevus P42336 PIK3CA H02627 Epidermal nevus P01112 HRAS H02628 Schimmelpenning-Feuerstein-Mims syndrome P01116 KRAS H02628 Schimmelpenning-Feuerstein-Mims syndrome P01111 NRAS H02628 Schimmelpenning-Feuerstein-Mims syndrome P21802 FGFR2 H02629 Bent bone dysplasia syndrome Q02750 MAP2K1 H02631 Melorheostosis P67775 PPP2CA H02632 Houge-Janssens syndrome O43151 TET3 H02633 Beck-Fahrner syndrome P17980 PSMC3 H02634 Deafness, cataract, impaired intellectual development, and polyneuropathy P67870 CSNK2B H02635 Poirier-Bienvenu neurodevelopmental syndrome Q01668 CACNA1D H02636 Sinoatrial node dysfunction and deafness P62266 RPS23 H02637 Brachycephaly, trichomegaly, and developmental delay Q08209 PPP3CA H02641 Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development Q9NY47 CACNA2D2 H02645 Cerebellar atrophy with seizures and variable developmental delay P21817 RYR1 H02646 Malignant hyperthermia Q13698 CACNA1S H02646 Malignant hyperthermia P42336 PIK3CA H02647 Macrodactyly Q92793 CREBBP H02650 Menke-Hennekam syndrome Q09472 EP300 H02650 Menke-Hennekam syndrome Q9UKV8 AGO2 H02651 Lessel-Kreienkamp syndrome P17342 NPR3 H02654 Boudin-Mortier syndrome Q5JSL3 DOCK11 H02656 X-linked multisystem autoinflammatory disease with immune dysregulation P08631 HCK H02660 Autoinflammation with pulmonary and cutaneous vasculitis Q9NS87 KIF15 H02663 Braddock-Carey syndrome O14672 ADAM10 H02665 Reticulate acropigmentation of Kitamura Q9Y5S2 CDC42BPB H02666 Chilton-Okur-Chung neurodevelopmental syndrome P60953 CDC42 H02667 Takenouchi-Kosaki syndrome Q9Y6K1 DNMT3A H02668 Heyn-Sproul-Jackson syndrome P01137 TGFB1 H02669 Inflammatory bowel disease, immunodeficiency, and encephalopathy Q9Y289 SLC5A6 H02671 Sodium-dependent multivitamin transporter deficiency P07948 LYN H02672 Systemic autoinflammatory disease with vasculitis Q13435 SF3B2 H02673 Craniofacial microsomia P01160 NPPA H02674 Atrial standstill Q9BW60 ELOVL1 H02675 Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features Q01959 SLC6A3 H02676 Infantile-onset parkinsonism-dystonia Q05940 SLC18A2 H02676 Infantile-onset parkinsonism-dystonia O75844 ZMPSTE24 H02677 Progeroid laminopathy P02545 LMNA H02677 Progeroid laminopathy P20594 NPR2 H02679 Miura-type epiphyseal chondrodysplasia P20594 NPR2 H02681 Short stature with nonspecific skeletal abnormalities Q9Y6D6 ARFGEF1 H02685 Developmental delay with neuropsychiatric disorders Q08379 GOLGA2 H02685 Developmental delay with neuropsychiatric disorders Q7L7X3 TAOK1 H02685 Developmental delay with neuropsychiatric disorders Q01082 SPTBN1 H02685 Developmental delay with neuropsychiatric disorders Q15046 KARS1 H02687 Congenital deafness and adult-onset progressive leukoencephalopathy O43747 AP1G1 H02692 Usmani-Riazuddin syndrome P49419 ALDH7A1 H02696 Early-onset epilepsy O15047 SETD1A H02696 Early-onset epilepsy Q96A33 CCDC47 H02698 Trichohepatoneurodevelopmental syndrome P41440 SLC19A1 H02699 Folate-responsive megaloblastic anemia P26196 DDX6 H02700 Intellectual developmental disorder with speech delay and dysmorphic facies P42262 GRIA2 H02705 Neurodevelopmental disorder with glutamatergic synapse dysfunction P48058 GRIA4 H02705 Neurodevelopmental disorder with glutamatergic synapse dysfunction Q05586 GRIN1 H02705 Neurodevelopmental disorder with glutamatergic synapse dysfunction Q14831 GRM7 H02705 Neurodevelopmental disorder with glutamatergic synapse dysfunction P53618 COPB1 H02708 Baralle-Macken syndrome O43776 NARS1 H02709 Neurodevelopmental disorder with aminoacyl-tRNA synthetase defect P26640 VARS1 H02709 Neurodevelopmental disorder with aminoacyl-tRNA synthetase defect P23381 WARS1 H02709 Neurodevelopmental disorder with aminoacyl-tRNA synthetase defect Q13085 ACACA H02711 Acetyl-CoA carboxylase-alpha deficiency P62805 H4C1 H02714 Tessadori-Bicknell-van Haaften neurodevelopmental syndrome P20618 PSMB1 H02715 Neurodevelopmental disorder with defects of ubiquitin-proteasome system P62191 PSMC1 H02715 Neurodevelopmental disorder with defects of ubiquitin-proteasome system O00232 PSMD12 H02715 Neurodevelopmental disorder with defects of ubiquitin-proteasome system Q13618 CUL3 H02715 Neurodevelopmental disorder with defects of ubiquitin-proteasome system Q13564 NAE1 H02715 Neurodevelopmental disorder with defects of ubiquitin-proteasome system Q14139 UBE4A H02715 Neurodevelopmental disorder with defects of ubiquitin-proteasome system Q15386 UBE3C H02715 Neurodevelopmental disorder with defects of ubiquitin-proteasome system Q8TD19 NEK9 H02722 Nevus comedonicus P02545 LMNA H02725 Heart-hand syndrome Q14739 LBR H02732 Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly Q13126 MTAP H02735 Diaphyseal medullary stenosis with malignant fibrous histiocytoma Q14444 CAPRIN1 H02741 Childhood-onset neurodegeneration with cerebellar ataxia and cognitive decline P19440 GGT1 H02750 Glutathionuria P09172 DBH H02751 Orthostatic hypotension Q9Y295 DRG1 H02752 Tan-Almurshedi syndrome Q56A73 SPIN4 H02755 Lui-Jee-Baron syndrome Q9UBT2 UBA2 H02758 ACCES syndrome P11586 MTHFD1 H02761 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia Q8IW41 MAPKAPK5 H02763 Neurocardiofaciodigital syndrome Q9BYP7 WNK3 H02765 Prieto syndrome Q9NR63 CYP26B1 H02766 Radiohumeral fusions with other skeletal and craniofacial anomalies P08908 HTR1A H02773 Menstrual cycle-dependent periodic fever P31641 SLC6A6 H02774 Hypotaurinemic retinal degeneration and cardiomyopathy P27448 MARK3 H02775 Visual impairment and progressive phthisis bulbi P47871 GCGR H02787 Mahvash disease Q9UQD0 SCN8A H02789 Familial myoclonus P19174 PLCG1 H02792 Immune dysregulation, autoimmunity, and autoinflammation P32297 CHRNA3 H02796 Autonomic bladder dysfunction with impaired pupillary reflex and secondary CAKUT O95749 GGPS1 H02798 Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome Q02161 RHD H02799 Rh-induced hemolytic disease of the fetus and newborn Q08AM6 VAC14 H02802 Childhood-onset striatonigral degeneration Q92993 KAT5 H02803 Neurodevelopmental disorder with histone modification defect Q9Y5B9 SUPT16H H02803 Neurodevelopmental disorder with histone modification defect O15054 KDM6B H02803 Neurodevelopmental disorder with histone modification defect P29375 KDM5A H02803 Neurodevelopmental disorder with histone modification defect Q8TEK3 DOT1L H02803 Neurodevelopmental disorder with histone modification defect Q8NHM5 KDM2B H02803 Neurodevelopmental disorder with histone modification defect O15047 SETD1A H02803 Neurodevelopmental disorder with histone modification defect P56524 HDAC4 H02803 Neurodevelopmental disorder with histone modification defect Q5XXA6 ANO1 H02810 Intestinal dysmotility syndrome P10586 PTPRF H02811 Aplasia or hypoplasia of the breasts and/or nipples P25106 ACKR3 H02814 Oculomotor-abducens synkinesis Q9UPN9 TRIM33 H02816 Developmental dysplasia of the hip Q7Z406 MYH14 H02817 Peripheral neuropathy, myopathy, hoarseness, and hearing loss Q5SRE5 NUP188 H02821 Sandestig-Stefanova syndrome Q9H0F6 SHARPIN H02826 Autoinflammation with episodic fever and immune dysregulation P51532 SMARCA4 H02828 Otosclerosis Q9UHD2 TBK1 H02829 Autoinflammation with arthritis and vasculitis P08183 ABCB1 H02831 Acute transient encephalopathy P35249 RFC4 H02840 Morimoto-Ryu-Malicdan neuromuscular syndrome P17987 TCP1 H02843 Brain malformations and seizures by impaired function of TRiC P49368 CCT3 H02843 Brain malformations and seizures by impaired function of TRiC P01116 KRAS H02845 Arteriovenous malformations of the brain O94925 GLS H02846 Global developmental delay, progressive ataxia, and elevated glutamine O94925 GLS H02847 CASGID syndrome P08588 ADRB1 H02849 Familial natural short sleep Q6W5P4 NPSR1 H02849 Familial natural short sleep Q69YQ0 SPECC1L H02853 Teebi hypertelorism syndrome P68400 CSNK2A1 H02854 Okur-Chung neurodevelopmental syndrome Q13936 CACNA1C H02856 Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Q13409 DYNC1I2 H02857 Neurodevelopmental disorder with microcephaly and structural brain anomalies Q9P0X4 CACNA1I H02858 Neurodevelopmental disorder with speech impairment and with or without seizures Q00975 CACNA1B H02859 Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements Q14643 ITPR1 H02860 Gillespie syndrome Q13618 CUL3 H02864 Neurodevelopmental disorder with or without autism or seizures Q05586 GRIN1 H02865 Neurodevelopmental disorder with or without hyperkinetic movements and seizures P68871 HBB H02868 Heinz body anemia P09619 PDGFRB H02870 Premature aging syndrome, Penttinen type P09619 PDGFRB H02872 Kosaki overgrowth syndrome P01112 HRAS H02874 Congenital melanocytic nevus syndrome P01111 NRAS H02874 Congenital melanocytic nevus syndrome P01111 NRAS H02875 Neurocutaneous melanosis O60706 ABCC9 H02876 Cantu syndrome O60313 OPA1 H02877 Glaucoma Q14831 GRM7 H02886 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities P42262 GRIA2 H02887 Neurodevelopmental disorder with language impairment and behavioral abnormalities P48058 GRIA4 H02888 Neurodevelopmental disorder with or without seizures and gait abnormalities P34903 GABRA3 H02889 X-linked epilepsy-2 with or without impaired intellectual development and dysmorphic features Q9UBS5 GABBR1 H02890 Neurodevelopmental disorder with language delay and variable cognitive abnormalities O75899 GABBR2 H02891 Neurodevelopmental disorder with poor language and loss of hand skills P02768 ALB H02893 Euthyroid hyperthyroxinemia P02766 TTR H02893 Euthyroid hyperthyroxinemia Q13002 GRIK2 H02894 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures P10721 KIT H02896 Cutaneous mastocytosis O60313 OPA1 H02898 Behr syndrome P41597 CCR2 H02906 Polycystic lung disease Q15067 ACOX1 H02908 Mitchell syndrome Q15043 SLC39A14 H02909 Hyperostosis cranialis interna Q7LG56 RRM2B H02910 Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction O43822 CFAP410 H02914 Retinal dystrophy with or without macular staphyloma P34897 SHMT2 H02918 Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities P07858 CTSB H02920 Keratolytic winter erythema P42336 PIK3CA H02921 Seborrheic keratosis Q96P20 NLRP3 H02923 Keratoendotheliitis fugax hereditaria O60706 ABCC9 H02924 Intellectual disability and myopathy syndrome P09619 PDGFRB H02928 Ocular pterygium-digital keloid dysplasia syndrome P09601 HMOX1 H02929 Heme oxygenase-1 deficiency P21802 FGFR2 H02932 Scaphocephaly, maxillary retrusion, and impaired intellectual development P55011 SLC12A2 H02933 Delpire-McNeill syndrome P55011 SLC12A2 H02934 Kilquist syndrome P32754 HPD H02936 Hawkinsinuria P26358 DNMT1 H02940 Autosomal dominant cerebellar ataxia, deafness, and narcolepsy P36956 SREBF1 H02944 Hereditary mucoepithelial dysplasia Q12824 SMARCB1 H02945 Schwannomatosis P50148 GNAQ H02946 Congenital capillary malformations Q9ULL5 PRR12 H02947 Neuroocular syndrome Q9Y4D2 DAGLA H02947 Neuroocular syndrome O75306 NDUFS2 H02952 Autosomal recessive Leber-like hereditary optic neuropathy Q9UKS7 IKZF2 H02957 ICHAD syndrome Q9UKS7 IKZF2 H02958 Immunodysregulation with variable immunodeficiency and autoimmunity Q9Y2X0 MED16 H02961 Guillouet-Gordon syndrome P43354 NR4A2 H02962 Intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism Q14524 SCN5A H02964 Sudden infant death syndrome P41227 NAA10 H02967 Ogden syndrome Q99835 SMO H02968 Curry-Jones syndrome Q93074 MED12 H02969 Hardikar syndrome P22314 UBA1 H02971 VEXAS syndrome P31930 UQCRC1 H02973 Parkinsonism with polyneuropathy P51531 SMARCA2 H02974 Blepharophimosis-impaired intellectual development syndrome P30048 PRDX3 H02977 Punctiform and polychromatic pre-Descemet corneal dystrophy P17301 ITGA2 H02979 Fetomaternal alloimmune thrombocytopenia P08514 ITGA2B H02979 Fetomaternal alloimmune thrombocytopenia P05106 ITGB3 H02979 Fetomaternal alloimmune thrombocytopenia Q9UQD0 SCN8A H02980 Cognitive impairment with or without cerebellar ataxia P00519 ABL1 H02982 Congenital heart defects and skeletal malformations syndrome Q8TEQ6 GEMIN5 H02987 Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction Q13813 SPTAN1 H02989 Developmental delay with or without epilepsy P26368 U2AF2 H02993 Developmental delay, dysmorphic facies, and brain anomalies P11413 G6PD H02999 Congenital nonspherocytic hemolytic anemia P00390 GSR H02999 Congenital nonspherocytic hemolytic anemia P19367 HK1 H02999 Congenital nonspherocytic hemolytic anemia O60832 DKC1 H03003 Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis P46063 RECQL H03004 RECON progeroid syndrome Q9BYW2 SETD2 H03006 Rabin-Pappas syndrome P53621 COPA H03012 Autoinflammation and autoimmunity, systemic, with immune dysregulation P06756 ITGAV H03013 Immune dysregulation, neurodevelopmental defects, and colitis P22234 PAICS H03014 Phosphoribosylaminoimidazole carboxylase deficiency P07333 CSF1R H03015 Brain abnormalities, neurodegeneration, and dysosteosclerosis O43390 HNRNPR H03018 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities Q16620 NTRK2 H03022 Obesity, hyperphagia, and developmental delay Q9H9E3 COG4 H03024 Saul-Wilson syndrome P62995 TRA2B H03032 Ramond-Elliott neurodevelopmental syndrome P35606 COPB2 H03036 Childhood- or juvenile-onset osteoporosis with developmental delay P25054 APC H03037 Gastric adenocarcinoma and proximal polyposis of the stomach P60763 RAC3 H03043 Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies