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Entry | Name | Description | Category | Pathway | Gene |
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H00014 | Non-small cell lung cancer | Lung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heterogeneous ... | Cancer | hsa05223 Non-small cell lung cancer |
EML4-ALK (translocation) [HSA:238] [KO:K05119] CD74-ROS1,SLC34A2-ROS1 (translocation) [HSA:6098] [KO:K05088] KIF5B-RET (inversion) [HSA:5979] [KO:K05126] RARB (promoter hypermethylation) [HSA:5915] [KO:K08528] RASSF1 (promoter hypermethylation) [HSA:11186] [KO:K09850] KRAS [HSA:3845] [KO:K07827] EGFR [HSA:1956] [KO:K04361] FHIT [HSA:2272] [KO:K01522] CDKN2A [HSA:1029] [KO:K06621] TP53 [HSA:7157] [KO:K04451] MET [HSA:4233] [KO:K05099] BRAF [HSA:673] [KO:K04365] PIK3CA [HSA:5290] [KO:K00922] IRF1 [HSA:3659] [KO:K09444] PPP2R1B [HSA:5519] [KO:K03456] |
H00031 | Breast cancer | Breast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gland ... | Cancer | hsa05224 Breast cancer |
BRCA1 (germline mutation, hypermethylation) [HSA:672] [KO:K10605] BRCA2 [HSA:675] [KO:K08775] BARD1 [HSA:580] [KO:K10683] BRIP1 [HSA:83990] [KO:K15362] PALB2 [HSA:79728] [KO:K10897] RAD51 [HSA:5888] [KO:K04482] RAD54L [HSA:8438] [KO:K10875] XRCC3 [HSA:7517] [KO:K10880] ERBB2/HER2 (overexpression) [HSA:2064] [KO:K05083] ESR1/ER1 [HSA:2099] [KO:K08550] PGR [HSA:5241] [KO:K08556] GATA3 [HSA:2625] [KO:K17895] PIK3CA [HSA:5290] [KO:K00922] TP53 [HSA:7157] [KO:K04451] PPM1D [HSA:8493] [KO:K10147] RB1CC1 [HSA:9821] [KO:K17589] HMMR [HSA:3161] [KO:K06267] NQO2 [HSA:4835] [KO:K08071] SLC22A18 [HSA:5002] [KO:K08214] PTEN [HSA:5728] [KO:K01110] EGFR (overexpression) [HSA:1956] [KO:K04361] KIT (overexpression) [HSA:3815] [KO:K05091] NOTCH1 (overexpression) [HSA:4851] [KO:K02599] NOTCH4 (overexpression) [HSA:4855] [KO:K20996] FZD7 (overexpression) [HSA:8324] [KO:K02432] LRP6 (overexpression) [HSA:4040] [KO:K03068] FGFR1 (amplification) [HSA:2260] [KO:K04362] CCND1 (amplification) [HSA:595] [KO:K04503] |
H00038 | Melanoma | Melanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes. The ... | Cancer | hsa05218 Melanoma |
(CMM2) CDKN2A [HSA:1029] [KO:K06621] (CMM3) CDK4 [HSA:1019] [KO:K02089] (CMM5) MC1R [HSA:4157] [KO:K04199] (CMM6) XRCC3 [HSA:7517] [KO:K10880] (CMM8) MITF (amplification) [HSA:4286] [KO:K09455] (CMM9) TERT [HSA:7015] [KO:K11126] (CMM10) POT1 [HSA:25913] [KO:K11109] BRAF [HSA:673] [KO:K04365] STK11 [HSA:6794] [KO:K07298] NRAS [HSA:4893] [KO:K07828] PTEN [HSA:5728] [KO:K01110] TP53 [HSA:7157] [KO:K04451] |
H00063 | Spinocerebellar ataxia (SCA) | The autosomal dominant spinocerebellar ataxias (SCAs) are a group of progressive neurodegenerative diseases characterised by loss of balance and motor coordination due to the primary dysfunction of the ... | Neurodegenerative disease | hsa05017 Spinocerebellar ataxia |
(SCA1) ATXN1 [HSA:6310] [KO:K23616] (SCA2) ATXN2 [HSA:6311] [KO:K23625] (SCA3) ATXN3 [HSA:4287] [KO:K11863] (SCA5) SPTBN2 [HSA:6712] [KO:K23932] (SCA6) CACNA1A [HSA:773] [KO:K04344] (SCA7) ATXN7 [HSA:6314] [KO:K11318] (SCA8) ATXN8OS [HSA:6315] [KO:K23933] (SCA10) ATXN10 [HSA:25814] [KO:K19323] (SCA11) TTBK2 [HSA:146057] [KO:K08815] (SCA12) PPP2R2B [HSA:5521] [KO:K04354] (SCA13) KCNC3 [HSA:3748] [KO:K04889] (SCA14) PRKCG [HSA:5582] [KO:K19663] (SCA15/29) ITPR1 [HSA:3708] [KO:K04958] (SCA17) TBP [HSA:6908] [KO:K03120] (SCA19/22) KCND3 [HSA:3752] [KO:K04893] (SCA21) TMEM240 [HSA:339453] [KO:K24870] (SCA23) PDYN [HSA:5173] [KO:K15840] (SCA26) EEF2 [HSA:1938] [KO:K03234] (SCA27A/27B) FGF14 [HSA:2259] [KO:K23920] (SCA28) AFG3L2 [HSA:10939] [KO:K08956] (SCA31) BEAN1 [HSA:146227] [KO:K19324] (SCA34) ELOVL4 [HSA:6785] [KO:K10249] (SCA35) TGM6 [HSA:343641] [KO:K05624] (SCA36) NOP56 [HSA:10528] [KO:K14564] (SCA37) DAB1 [HSA:1600] [KO:K20054] (SCA38) ELOVL5 [HSA:60481] [KO:K10244] (SCA40) CCDC88C [HSA:440193] [KO:K25811] (SCA41) TRPC3 [HSA:7222] [KO:K04966] (SCA42) CACNA1G [HSA:8913] [KO:K04854] (SCA43) MME [HSA:4311] [KO:K01389] (SCA44) GRM1 [HSA:2911] [KO:K04603] (SCA45) FAT2 [HSA:2196] [KO:K16506] (SCA46) PLD3 [HSA:23646] [KO:K16860] (SCA47) PUM1 [HSA:9698] [KO:K17943] (SCA48) STUB1 [HSA:10273] [KO:K09561] (SCA49) SAMD9L [HSA:219285] [KO:K23949] (SCA50) NPTX1 [HSA:4884] [KO:K25709] |
H00069 | Glycogen storage disease | Glycogen storage disease (GSD) is an autosomal recessive (all types except IXa and IXd) or X-linked (types IXa and IXd) disorder with symptoms ranging from weakness to growth abnormalities. GSD is caused ... | Inherited metabolic disorder |
(GSD1A) G6PC1 [HSA:2538] [KO:K01084] (GSD1B/1C) SLC37A4 [HSA:2542] [KO:K08171] (GSD2) GAA [HSA:2548] [KO:K12316] (GSD3) AGL [HSA:178] [KO:K01196] (GSD4) GBE1 [HSA:2632] [KO:K00700] (GSD5) PYGM [HSA:5837] [KO:K00688] (GSD6) PYGL [HSA:5836] [KO:K00688] (GSD7) PFKM [HSA:5213] [KO:K00850] (GSD9A) PHKA2 [HSA:5256] [KO:K07190] (GSD9B) PHKB [HSA:5257] [KO:K07190] (GSD9C) PHKG2 [HSA:5261] [KO:K00871] (GSD9D) PHKA1 [HSA:5255] [KO:K07190] (GSD10) PGAM2 [HSA:5224] [KO:K01834] (GSDXI/FBS) SLC2A2 [HSA:6514] [KO:K07593] (GSD11) LDHA [HSA:3939] [KO:K00016] (GSD12) ALDOA [HSA:226] [KO:K01623] (GSD13) ENO3 [HSA:2027] [KO:K01689] (GSD14) PGM1 [HSA:5236] [KO:K01835] (GSD15) GYG1 [HSA:2992] [KO:K00750] (GSDH) PRKAG2 [HSA:51422] [KO:K07200] (GSD0A) GYS2 [HSA:2998] [KO:K00693] (GSD0B) GYS1 [HSA:2997] [KO:K00693] |
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H00070 | Galactosemia | Galactosemia (GALAC) is an autosomal recessive disorder caused by a defect in one of the enzyme genes for galactose metabolism. Newborns with the enzyme deficiency cannot properly metabolize milk sugar ... | Inherited metabolic disorder |
(GALAC1) GALT [HSA:2592] [KO:K00965] (GALAC2) GALK1 [HSA:2584] [KO:K00849] (GALAC3) GALE [HSA:2582] [KO:K01784] (GALAC4) GALM [HSA:130589] [KO:K01785] |
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H00076 | Cockayne syndrome | Cockayne syndrome (CS) is a rare recessive disorder characterized by progressive multisystem abnormalities such as postnatal growth deficiency, progressive pigmentary retinopathy, sensorineural hearing ... | Neurodegenerative disease |
(CSA) ERCC8 [HSA:1161] [KO:K10570] (CSB) ERCC6 [HSA:2074] [KO:K10841] (XPB/CS) ERCC3 [HSA:2071] [KO:K10843] (XPF/CS) ERCC4 [HSA:2072] [KO:K10848] (XPG/CS) ERCC5 [HSA:2073] [KO:K10846] |
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H00085 | Agammaglobulinemias | There are three major categories of antibody deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency ... | Immune system disease |
(AGMX1) BTK [HSA:695] [KO:K07370] (AGMX2) SH3KBP1 [HSA:30011] [KO:K12470] (AGM2) IGLL1 [HSA:3543] [KO:K06554] (AGM3) CD79A [HSA:973] [KO:K06506] (AGM4) BLNK [HSA:29760] [KO:K07371] (AGM5) LRRC8A [HSA:56262] [KO:K22038] (AGM6) CD79B [HSA:974] [KO:K06507] (AGM7) PIK3R1 [HSA:5295] [KO:K02649] (AGM8A/8B) TCF3 [HSA:6929] [KO:K09063] (AGM9) SLC39A7 [HSA:7922] [KO:K14713] (AGM10) SPI1 [HSA:6688] [KO:K09438] |
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H00099 | Leukocyte adhesion deficiency | ... hematopoietic cells, is the cause of LAD-III. Dominant-negative mutations resulting in deficiency of ras-related C3 botulinum toxin substrate (Rac2), the predominant hematopoeitic-specific Rho GTPase in neutrophils ... | Primary immunodeficiency |
ITGB2 [HSA:3689] [KO:K06464] SLC35C1 [HSA:55343] [KO:K15279] FERMT3 [HSA:83706] [KO:K17084] RAC2 [HSA:5880] [KO:K07860] |
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H00100 | Neutropenic disorders | Neutropenias represents a series of potentially life-threatening disorders characterised by a reduction in circulating neutrophils. Since neutrophils play a major role in host defense against bacteria ... | Primary immunodeficiency |
(SCN1) ELANE [HSA:1991] [KO:K01327] (SCN2/NI-CINA) GFI1 [HSA:2672] [KO:K09223] (SCN3) HAX1 [HSA:10456] [KO:K16220] (SCN4) G6PC3 [HSA:92579] [KO:K01084] (SCN5) VPS45 [HSA:11311] [KO:K12479] (SCN6) JAGN1 [HSA:84522] [KO:K25789] (SCN7) CSF3R [HSA:1441] [KO:K05061] (SCN8) SRP54 [HSA:6729] [KO:K03106] (SCN9) CLPB [HSA:81570] [KO:K03695] (SCN10) SRP68 [HSA:6730] [KO:K03107] (SCN11) SEC61A1 [HSA:29927] [KO:K10956] (SCNX) WAS [HSA:7454] [KO:K05747] |
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H00102 | Classic complement pathway component defects | Complement disorders account for only 2 percent of all primary immunodeficiency disorders. They result from the disruption of one of the proteins involved in the classic or nonclassic activation pathways ... | Primary immunodeficiency |
(C1QD1) C1QA [HSA:712] [KO:K03986] (C1QD2) C1QB [HSA:713] [KO:K03987] (C1QD3) C1QC [HSA:714] [KO:K03988] (C1SD) C1S [HSA:716] [KO:K01331] (C2D) C2 [HSA:717] [KO:K01332] (C3D) C3 [HSA:718] [KO:K03990] (C4AD) C4A [HSA:720] [KO:K03989] (C4BD) C4B [HSA:721] [KO:K03989] |
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H00104 | Alternative complement pathway component defects | The alternative pathway (AP) is antibody independent and relies on native C3 undergoing minimal spontaneous hydrolysis. Hydrolyzed C3 binds factor B. Factor B, when bound to hydrolyzed C3, is cleaved by ... | Primary immunodeficiency |
(CFBD) CFB [HSA:629] [KO:K01335] (CFDD) CFD [HSA:1675] [KO:K01334] (CFHD) CFH [HSA:3075] [KO:K04004] (CFPD) CFP [HSA:5199] [KO:K15412] |
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H00109 | Familial hemophagocytic lymphohistiocytosis | Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disorder with uncontrolled activation of T cells and macrophages (hemophagocytic activation) that infiltrate into liver, spleen ... | Primary immunodeficiency |
(FHL2) PRF1 [HSA:5551] [KO:K07818] (FHL3) UNC13D [HSA:201294] [KO:K19728] (FHL4) STX11 [HSA:8676] [KO:K08487] (FHL5) STXBP2 [HSA:6813] [KO:K15300] (FHL6) RC3H1 [HSA:149041] [KO:K15690] |
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H00119 | Congenital disorders of glycosylation type II | Congenital disorders of glycosylation (CDG) are a group of disorders caused by defects in various genes for N-glycan biosynthesis. CDG-II is defined by mutations in genes encoding enzymes in the processing ... | Inherited metabolic disorder |
(CDG2A) MGAT2 [HSA:4247] [KO:K00736] (CDG2B) GCS1 [HSA:7841] [KO:K01228] (CDG2C) SLC35C1 [HSA:55343] [KO:K15279] (CDG2D) B4GALT1 [HSA:2683] [KO:K07966] (CDG2E) COG7 [HSA:91949] [KO:K20294] (CDG2F) SLC35A1 [HSA:10559] [KO:K15272] (CDG2G) COG1 [HSA:9382] [KO:K20288] (CDG2H) COG8 [HSA:84342] [KO:K20295] (CDG2I) COG5 [HSA:10466] [KO:K20292] (CDG2J) COG4 [HSA:25839] [KO:K20291] (CDG2K) TMEM165 [HSA:55858] [KO:K23541] (CDG2L) COG6 [HSA:57511] [KO:K20293] (CDG2M) SLC35A2 [HSA:7355] [KO:K15272] (CDG2N) SLC39A8 [HSA:64116] [KO:K14714] (CDG2O) CCDC115 [HSA:84317] [KO:K23543] (CDG2P) TMEM199 [HSA:147007] [KO:K23542] (CDG2Q) COG2 [HSA:22796] [KO:K20289] (CDG2R) ATP6AP2 [HSA:10159] [KO:K19514] (CDG2S) ATP6AP1 [HSA:537] [KO:K03662] (CDG2T) GALNT2 [HSA:2590] [KO:K00710] (CDG2V) EDEM3 [HSA:80267] [KO:K10086] (CDG2W) SLC37A4 [HSA:2542] [KO:K08171] (CDG2Y) GET4 [HSA:51608] [KO:K23387] (CDG2Z) CAMLG [HSA:819] [KO:K22385] (CDG2AA) STX5 [HSA:6811] [KO:K08490] (CDG2BB) COG3 [HSA:83548] [KO:K20290] |
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H00212 | Acrodermatitis enteropathica | Acrodermatitis enteropathica (AEZ) is an autosomal recessive disorder of zinc deficiency caused by defects of a zinc transporter gene. The disorder is characterized by intermittent simultaneous occurrence ... | Inherited metabolic disorder | SLC39A4 [HSA:55630] [KO:K14710] | |
H00214 | Hypophosphatemic rickets | Hypophosphataemic rickets, also known as vitamin D resistant rickets, is a group of genetic disorders characterized by defective reabsorption of inorganic phosphorus by the renal tubules resulting in hypophosphatemia ... | Inherited metabolic disorder |
(XLHR) PHEX [HSA:5251] [KO:K08636] (XLRH) CLCN5 [HSA:1184] [KO:K05012] (ADHR) FGF23 [HSA:8074] [KO:K22428] (ARHR1) DMP1 [HSA:1758] [KO:K23328] (ARHR2) ENPP1 [HSA:5167] [KO:K01513] (HHRH) SLC34A3 [HSA:142680] [KO:K14683] |
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H00254 |
Growth hormone deficiency Pituitary dwarfism |
Growth hormone deficiency, formerly known as Pituitary dwarfism, is a heterogeneous condition characterized by growth retardation with short stature and normal body proportions caused by growth hormone ... | Endocrine and metabolic disease |
(IGHD1A/1B/2) GH1 [HSA:2688] [KO:K05438] (IGHD3) BTK [HSA:695] [KO:K07370] (IGHD4) GHRHR [HSA:2692] [KO:K04584] (CPHD1) POU1F1 [HSA:5449] [KO:K09363] (CPHD2) PROP1 [HSA:5626] [KO:K09327] (CPHD3) LHX3 [HSA:8022] [KO:K09374] (CPHD4) LHX4 [HSA:89884] [KO:K09374] (CPHD5) HESX1 [HSA:8820] [KO:K09354] (CPHD6) OTX2 [HSA:5015] [KO:K18490] (CPHD7/IGHD5) RNPC3 [HSA:55599] [KO:K13157] (CPHD8) ROBO1 [HSA:6091] [KO:K06753] (PD2) GHR [HSA:2690] [KO:K05080] (PHPX) SOX3 [HSA:6658] [KO:K09267] (GHDP) GHSR [HSA:2693] [KO:K04284] |
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H00255 | Hypogonadotropic hypogonadism | Hypogonadotropic hypogonadism (HH) or secondary hypogonadism is defined as a clinical syndrome that results from gonadal failure due to abnormal pituitary gonadotropin levels. HH may result from either ... | Endocrine and metabolic disease |
(HH1/KAL1) ANOS1 [HSA:3730] [KO:K23413] (HH2/KAL2) FGFR1 [HSA:2260] [KO:K04362] (HH3/KAL3) PROKR2 [HSA:128674] [KO:K08380] (HH4/KAL4) PROK2 [HSA:60675] [KO:K24191] (HH5/KAL5) CHD7 [HSA:55636] [KO:K14437] (HH6/KAL6) FGF8 [HSA:2253] [KO:K04358] (HH7/FEUNS) GNRHR [HSA:2798] [KO:K04280] (HH8) KISS1R [HSA:84634] [KO:K08374] (HH9) NSMF [HSA:26012] [KO:K23844] (HH10) TAC3 [HSA:6866] [KO:K05240] (HH11) TACR3 [HSA:6870] [KO:K04224] (HH12) GNRH1 [HSA:2796] [KO:K05252] (HH13) KISS1 [HSA:3814] [KO:K23140] (HH14) WDR11 [HSA:55717] [KO:K24260] (HH15) HS6ST1 [HSA:9394] [KO:K02514] (HH16) SEMA3A [HSA:10371] [KO:K06840] (HH17) SPRY4 [HSA:81848] [KO:K17385] (HH18) IL17RD [HSA:54756] [KO:K05167] (HH19) DUSP6 [HSA:1848] [KO:K21946] (HH20) FGF17 [HSA:8822] [KO:K04358] (HH21) FLRT3 [HSA:23767] [KO:K16362] (HH22) FEZF1 [HSA:389549] [KO:K24502] (HH23/FEUNS) LHB [HSA:3972] [KO:K08521] (HH24/IFSHD) FSHB [HSA:2488] [KO:K05250] (HH25) NDNF [HSA:79625] [KO:K25687] (HH26) TCF12 [HSA:6938] [KO:K15603] (HH27) NHLH2 [HSA:4808] [KO:K09075] |
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H00266 | Hereditary spastic paraplegia | Hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive distal limb weakness and lower extremity spasticity. | Nervous system disease |
(SPG1) L1CAM [HSA:3897] [KO:K06550] (SPG2) PLP1 [HSA:5354] [KO:K17271] (SPG3) ATL1 [HSA:51062] [KO:K17339] (SPG4) SPAST [HSA:6683] [KO:K13254] (SPG5) CYP7B1 [HSA:9420] [KO:K07430] (SPG6) NIPA1 [HSA:123606] [KO:K19364] (SPG7) SPG7 [HSA:6687] [KO:K09552] (SPG8) WASHC5 [HSA:9897] [KO:K18464] (SPG9) ALDH18A1 [HSA:5832] [KO:K12657] (SPG10) KIF5A [HSA:3798] [KO:K10396] (SPG11) SPG11 [HSA:80208] [KO:K19026] (SPG12) RTN2 [HSA:6253] [KO:K20722] (SPG13) HSPD1 [HSA:3329] [KO:K04077] (SPG15) ZFYVE26 [HSA:23503] [KO:K19027] (SPG17) BSCL2 [HSA:26580] [KO:K19365] (SPG18A/18B) ERLIN2 [HSA:11160] [KO:K23341] (SPG20) SPART [HSA:23111] [KO:K19366] (SPG21) SPG21 [HSA:51324] [KO:K19367] (SPG23) DSTYK [HSA:25778] [KO:K16288] (SPG26) B4GALNT1 [HSA:2583] [KO:K00725] (SPG28) DDHD1 [HSA:80821] [KO:K13619] (SPG30) KIF1A [HSA:547] [KO:K10392] (SPG31) REEP1 [HSA:65055] [KO:K17338] (SPG33) ZFYVE27 [HSA:118813] [KO:K19368] (SPG35) FA2H [HSA:79152] [KO:K19703] (SPG39) PNPLA6 [HSA:10908] [KO:K14676] (SPG42) SLC33A1 [HSA:9197] [KO:K03372] (SPG43) C19orf12 [HSA:83636] [KO:K23168] (SPG44) GJC2 [HSA:57165] [KO:K07619] (SPG45) NT5C2 [HSA:22978] [KO:K01081] (SPG46) GBA2 [HSA:57704] [KO:K17108] (SPG47) AP4B1 [HSA:10717] [KO:K12401] (SPG48) AP5Z1 [HSA:9907] [KO:K19025] (SPG49) TECPR2 [HSA:9895] [KO:K23881] (SPG50) AP4M1 [HSA:9179] [KO:K12402] (SPG51) AP4E1 [HSA:23431] [KO:K12400] (SPG52) AP4S1 [HSA:11154] [KO:K12403] (SPG53) VPS37A [HSA:137492] [KO:K12185] (SPG54) DDHD2 [HSA:23259] [KO:K16545] (SPG55) MTRFR [HSA:91574] [KO:K23498] (SPG56) CYP2U1 [HSA:113612] [KO:K07422] (SPG57) TFG [HSA:10342] [KO:K09292] (SPG61) ARL6IP1 [HSA:23204] [KO:K24864] (SPG62) ERLIN1 [HSA:10613] [KO:K23341] (SPG63) AMPD2 [HSA:271] [KO:K01490] (SPG64) ENTPD1 [HSA:953] [KO:K01510] (SPG70) MARS1 [HSA:4141] [KO:K01874] (SPG72A/72B) REEP2 [HSA:51308] [KO:K17338] (SPG73) CPT1C [HSA:126129] [KO:K19524] (SPG74) IBA57 [HSA:200205] [KO:K22073] (SPG75) MAG [HSA:4099] [KO:K06771] (SPG76) CAPN1 [HSA:823] [KO:K01367] (SPG77) FARS2 [HSA:10667] [KO:K01889] (SPG78) ATP13A2 [HSA:23400] [KO:K13526] (SPG79A/79B) UCHL1 [HSA:7345] [KO:K05611] (SPG80) UBAP1 [HSA:51271] [KO:K24629] (SPG81) SELENOI [HSA:85465] [KO:K00993] (SPG82) PCYT2 [HSA:5833] [KO:K00967] (SPG83) HPDL [HSA:84842] [KO:K24788] (SPG84) PI4KA [HSA:5297] [KO:K00888] (SPG85) RNF170 [HSA:81790] [KO:K15707] (SPG86) ABHD16A [HSA:7920] [KO:K25824] (SPG87) TMEM63C [HSA:57156] [KO:K21989] (SPG88) KPNA3 [HSA:3839] [KO:K23583] (SPG89) AMFR [HSA:267] [KO:K10636] (SPG90A/90B) SPTSSA [HSA:171546] [KO:K26384] (SPG91) SPTAN1 [HSA:6709] [KO:K06114] |
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H00268 | Lissencephaly | Lissencephaly (LIS), literally meaning smooth brain, is a severe neuronal migration disorder that ranges from agyria/pachygyria to subcortical band heterotopia. | Congenital malformation |
(LIS1/MDS) PAFAH1B1 [HSA:5048] [KO:K16794] (LIS2) RELN [HSA:5649] [KO:K06249] (LIS3) TUBA1A [HSA:7846] [KO:K07374] (LIS4) NDE1 [HSA:54820] [KO:K16738] (LIS5) LAMB1 [HSA:3912] [KO:K05636] (LIS6) KATNB1 [HSA:10300] [KO:K18643] (LIS7) CDK5 [HSA:1020] [KO:K02090] (LIS8) TMTC3 [HSA:160418] [KO:K23424] (LIS9) MACF1 [HSA:23499] [KO:K19827] (LIS10) CEP85L [HSA:387119] [KO:K16766] (LISX1) DCX [HSA:1641] [KO:K16579] (LISX2) ARX [HSA:170302] [KO:K09452] |
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H00289 |
Recurrent hydatidiform moles Familial biparental hydatidiform |
Hydatidiform mole (HYDM) is an abnormal human pregnancy composed of hyperproliferative trophoblast occurring in approximately 1 in every 1500 pregnancies in Europe and North America. This incidence is ... | Reproductive system disease |
(HYDM) NALP7 [HSA:199713] [KO:K20864] (HYDM2) KHDC3L [HSA:154288] [KO:K25076] (HYDM3) MEI1 [HSA:150365] [KO:K25318] (HYDM4) C11orf80 [HSA:79703] [KO:K24789] |
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H00292 | Hypertrophic cardiomyopathy | Hypertrophic cardiomyopathy (HCM/CMH) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological features ... | Cardiovascular disease | hsa05410 Hypertrophic cardiomyopathy |
(CMH1) MYH7 [HSA:4625] [KO:K17751] (CMH1) MYLK2 [HSA:85366] [KO:K00907] (CMH1) CAV3 [HSA:859] [KO:K12959] (CMH2) TNNT2 [HSA:7139] [KO:K12045] (CMH3) TPM1 [HSA:7168] [KO:K10373] (CMH4) MYBPC3 [HSA:4607] [KO:K12568] (CMH6) PRKAG2 [HSA:51422] [KO:K07200] (CMH7) TNNI3 [HSA:7137] [KO:K12044] (CMH8) MYL3 [HSA:4634] [KO:K12749] (CMH9) TTN [HSA:7273] [KO:K12567] (CMH10) MYL2 [HSA:4633] [KO:K10351] (CMH11) ACTC1 [HSA:70] [KO:K12314] (CMH12) CSRP3 [HSA:8048] [KO:K09377] (CMH13) TNNC1 [HSA:7134] [KO:K05865] (CMH14) MYH6 [HSA:4624] [KO:K17751] (CMH15) VCL [HSA:7414] [KO:K05700] (CMH16) MYOZ2 [HSA:51778] [KO:K26050] (CMH17) JPH2 [HSA:57158] [KO:K19530] (CMH18) PLN [HSA:5350] [KO:K05852] (CMH20) NEXN [HSA:91624] [KO:K23918] (CMD1KK/CMH22) MYPN [HSA:84665] [KO:K22028] (CMD1AA/CMH23) ACTN2 [HSA:88] [KO:K21073] (CMD1C/CMH24) LDB3 [HSA:11155] [KO:K19867] (CMH25) TCAP [HSA:8557] [KO:K19879] (CMH26) FLNC [HSA:2318] [KO:K27393] (CMH27) ALPK3 [HSA:57538] [KO:K08868] (CMH28) FHOD3 [HSA:80206] [KO:K23939] (CMH29) KLHL24 [HSA:54800] [KO:K10461] (CMH30) CORIN [HSA:10699] [KO:K09614] |
H00294 | Dilated cardiomyopathy | Dilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac death ... | Cardiovascular disease | hsa05414 Dilated cardiomyopathy |
(CMD1A) LMNA [HSA:4000] [KO:K12641] (CMD1C) LDB3 [HSA:11155] [KO:K19867] (CMD1D) TNNT2 [HSA:7139] [KO:K12045] (CMD1E) SCN5A [HSA:6331] [KO:K04838] (CMD1G) TTN [HSA:7273] [KO:K12567] (CMD1I) DES [HSA:1674] [KO:K07610] (CMD1J) EYA4 [HSA:2070] [KO:K17622] (CMD1L) SGCD [HSA:6444] [KO:K12563] (CMD1M) CSRP3 [HSA:8048] [KO:K09377] (CMD1N) TCAP [HSA:8557] [KO:K19879] (CMD1O) ABCC9 [HSA:10060] [KO:K05033] (CMD1P) PLN [HSA:5350] [KO:K05852] (CMD1R) ACTC1 [HSA:70] [KO:K12314] (CMD1S) MYH7 [HSA:4625] [KO:K17751] (CMD1U) PSEN1 [HSA:5663] [KO:K04505] (CMD1V) PSEN2 [HSA:5664] [KO:K04522] (CMD1W) VCL [HSA:7414] [KO:K05700] (CMD1X) FKTN [HSA:2218] [KO:K19872] (CMD1Y) TPM1 [HSA:7168] [KO:K10373] (CMD1Z) TNNC1 [HSA:7134] [KO:K05865] (CMD1AA) ACTN2 [HSA:88] [KO:K21073] (CMD1BB) DSG2 [HSA:1829] [KO:K07597] (CMD1CC) NEXN [HSA:91624] [KO:K23918] (CMD1DD) RBM20 [HSA:282996] [KO:K24052] (CMD1EE) MYH6 [HSA:4624] [KO:K17751] (CMD1FF/CMD2A) TNNI3 [HSA:7137] [KO:K12044] (CMD1GG) SDHA [HSA:6389] [KO:K00234] (CMD1HH) BAG3 [HSA:9531] [KO:K09557] (CMD1II) CRYAB [HSA:1410] [KO:K09542] (CMD1JJ) LAMA4 [HSA:3910] [KO:K06241] (CMD1KK) MYPN [HSA:84665] [KO:K22028] (CMD1LL) PRDM16 [HSA:63976] [KO:K22410] (CMD1MM) MYBPC3 [HSA:4607] [KO:K12568] (CMD1NN) RAF1 [HSA:5894] [KO:K04366] (CMD1OO) VEZF1 [HSA:7716] [KO:K26610] (CMD2B) GATAD1 [HSA:57798] [KO:K23407] (CMD2C) PPCS [HSA:79717] [KO:K01922] (CMD2D) RPL3L [HSA:6123] [KO:K02925] (CMD2E) JPH2 [HSA:57158] [KO:K19530] (CMD2F) BAG5 [HSA:9529] [KO:K09559] (CMD2G) LMOD2 [HSA:442721] [KO:K22030] (CMD2H) GET3 [HSA:439] [KO:K01551] (CMD2I) CAP2 [HSA:10486] [KO:K17261] (CMD2J) FLII [HSA:2314] [KO:K27496] (CMD3B) DMD [HSA:1756] [KO:K10366] (BTHS) TAZ [HSA:6901] [KO:K13511] HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DPA1 [HSA:3113] [KO:K06752] HLA-DPB1 [HSA:3115] [KO:K06752] HLA-DQA1 [HSA:3117] [KO:K06752] HLA-DQB1 [HSA:3119] [KO:K06752] |
H00403 | Disorders of nucleotide excision repair | ... pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD). XP is caused by mutations in XPA, ERCC3/XPB, XPC, ERCC2/XPD, DDB2/XPE, ERCC4/XPF, ERCC5/XPG and POLH. XP is classified into eight genetic ... | Congenital malformation |
(XPA) XPA [HSA:7507] [KO:K10847] (XPB/CS, TTD) ERCC3 [HSA:2071] [KO:K10843] (XPC) XPC [HSA:7508] [KO:K10838] (XPD, TTD) ERCC2 [HSA:2068] [KO:K10844] (XPE) DDB2 [HSA:1643] [KO:K10140] (XPE-2) DDB1 [HSA:1642] [KO:K10610] (XPF/CS) ERCC4 [HSA:2072] [KO:K10848] (XPG/CS, COFS3) ERCC5 [HSA:2073] [KO:K10846] (XPV) POLH [HSA:5429] [KO:K03509] (CSA) ERCC8 [HSA:1161] [KO:K10570] (CSB, DSC, UVS, COFS1) ERCC6 [HSA:2074] [KO:K10841] (TTD) GTF2H5 [HSA:404672] [KO:K10845] (COFS4) ERCC1 [HSA:2067] [KO:K10849] |
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H00409 | Type 2 diabetes mellitus | Type 2 diabetes mellitus (T2DM) is characterized by chronic hyperglycemia due to insulin resistance of peripheral tissues (skeletal muscle, liver, adipose tissue) and insufficient compensatory insulin ... | Endocrine and metabolic disease | hsa04930 Type II diabetes mellitus |
IGF2BP2 [HSA:10644] [KO:K17392] CAPN10 [HSA:11132] [KO:K08579] SLC30A8 [HSA:169026] [KO:K14695] KCNJ11 [HSA:3767] [KO:K05004] MTNR1B [HSA:4544] [KO:K04286] ENPP1 [HSA:5167] [KO:K01513] PPARG [HSA:5468] [KO:K08530] HNF1B [HSA:6928] [KO:K08034] TCF7L2 [HSA:6934] [KO:K04491] WFS1 [HSA:7466] [KO:K14020] |
H00474 | Schneckenbecken dysplasia | ... have limbs with extremely short long bones and flat vertebratal bodies. Loss-of-function mutations in SLC35D1 gene impair the transporter activity of nucleotide sugars in Schneckenbecken dysplasia. The disease ... | Congenital malformation | SLC35D1 [HSA:23169] [KO:K15281] | |
H00493 | Heparan sulfate proteoglycan gene defects | Defects in heparan sulfate proteoglycans (HSPGs), which present in cartilage, are associated with skeletal growth disorders. Mutations in either HS biosynthetic enzymes or HS proteoglycan core proteins ... | Congenital malformation |
(DDSH/SJS1) HSPG2 [HSA:3339] [KO:K06255] (SGBS1) GPC3 [HSA:2719] [KO:K08109] (OMOD1) GPC6 [HSA:10082] [KO:K08112] (EXT1) EXT1 [HSA:2131] [KO:K02366] (EXT2) EXT2 [HSA:2132] [KO:K02367] |
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H00523 | Noonan syndrome and related disorders | Noonan syndrome comprises genetically heterogeneous disorders that usually include postnatally reduced growth, distinctive facial dysmorphic features, and congenital heart defects and related disorders ... | Congenital malformation |
(NS1/LPRD1) PTPN11 [HSA:5781] [KO:K07293] (NS3/CFC2) KRAS [HSA:3845] [KO:K07827] (NS4) SOS1 [HSA:6654] [KO:K03099] (NS5/LPRD2) RAF1 [HSA:5894] [KO:K04366] (NS6) NRAS [HSA:4893] [KO:K07828] (NS7/LPRD3/CFC1) BRAF [HSA:673] [KO:K04365] (NS8) RIT1 [HSA:6016] [KO:K07832] (NS9) SOS2 [HSA:6655] [KO:K03099] (NS10) LZTR1 [HSA:8216] [KO:K23330] (CFC3) MAP2K1 [HSA:5604] [KO:K04368] (CFC4) MAP2K2 [HSA:5605] [KO:K04369] (CS) HRAS [HSA:3265] [KO:K02833] (NFNS) NF1 [HSA:4763] [KO:K08052] (NSLH1) SHOC2 [HSA:8036] [KO:K19613] (NSLH2) PPP1CB [HSA:5500] [KO:K06269] (CBL) CBL [HSA:867] [KO:K04707] |
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H00564 | Primary ciliary dyskinesia | Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder with recurrent oto-sinopulmonary infections, bronchiectasis, and infertility owing to impaired motile ciliary function. Alterations in ... | Respiratory system disease |
(CILD1) DNAI1 [HSA:27019] [KO:K10409] (CILD2) DNAAF3 [HSA:352909] [KO:K19752] (CILD3) DNAH5 [HSA:1767] [KO:K10408] (CILD5) HYDIN [HSA:54768] [KO:K17570] (CILD6) NME8 [HSA:51314] [KO:K19868] (CILD7) DNAH11 [HSA:8701] [KO:K10408] (CILD9) DNAI2 [HSA:64446] [KO:K11143] (CILD10) DNAAF2 [HSA:55172] [KO:K19751] (CILD11) RSPH4A [HSA:345895] [KO:K19756] (CILD12) RSPH9 [HSA:221421] [KO:K19757] (CILD13) DNAAF1 [HSA:123872] [KO:K19750] (CILD14) CCDC39 [HSA:339829] [KO:K23729] (CILD15) CCDC40 [HSA:55036] [KO:K23730] (CILD16) DNAL1 [HSA:83544] [KO:K10411] (CILD17) CCDC103 [HSA:388389] [KO:K23731] (CILD18) DNAAF5 [HSA:54919] [KO:K19759] (CILD19) DNAAF11 [HSA:23639] [KO:K19753] (CILD20) ODAD1 [HSA:93233] [KO:K23732] (CILD21) DRC1 [HSA:92749] [KO:K19754] (CILD22) ZMYND10 [HSA:51364] [KO:K24030] (CILD23) ODAD2 [HSA:55130] [KO:K24125] (CILD24) RSPH1 [HSA:89765] [KO:K19755] (CILD25) DNAAF4 [HSA:161582] [KO:K19758] (CILD26) CFAP298 [HSA:56683] [KO:K24229] (CILD27) CCDC65 [HSA:85478] [KO:K23728] (CILD28) SPAG1 [HSA:6674] [KO:K19870] (CILD29) CCNO [HSA:10309] [KO:K10861] (CILD30) ODAD3 [HSA:115948] [KO:K23733] (CILD32) RSPH3 [HSA:83861] [KO:K23965] (CILD33) GAS8 [HSA:2622] [KO:K19942] (CILD34) DNAJB13 [HSA:374407] [KO:K09519] (CILD35) ODAD4 [HSA:83538] [KO:K24254] (CILD36) DNAAF6 [HSA:139212] [KO:K24253] (CILD37) DNAH1 [HSA:25981] [KO:K10408] (CILD38) CFAP300 [HSA:85016] [KO:K24230] (CILD39) LRRC56 [HSA:115399] [KO:K25425] (CILD40) DNAH9 [HSA:1770] [KO:K10408] (CILD41) GAS2L2 [HSA:246176] [KO:K24627] (CILD42) MCIDAS [HSA:345643] [KO:K26119] (CILD43) FOXJ1 [HSA:2302] [KO:K09402] (CILD44) NEK10 [HSA:152110] [KO:K20879] (CILD45) TTC12 [HSA:54970] [KO:K24652] (CILD46) STK36 [HSA:27148] [KO:K06228] (CILD47) TP73 [HSA:7161] [KO:K10148] (CILD48) NME5 [HSA:8382] [KO:K20790] (CILD49) CFAP74 [HSA:85452] [KO:K25607] (CILD50) DNAH7 [HSA:56171] [KO:K10408] (CILD51) BRWD1 [HSA:54014] [KO:K11798] (CILD52) DAW1 [HSA:164781] [KO:K19760] (CILD53) CLXN [HSA:79645] [KO:K27179] |
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H00593 | Limb-girdle muscular dystrophy | Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of inherited disorders characterized by progressive muscle weakness that begins from the proximal limb muscles. The disease is not congenital ... | Nervous system disease; Musculoskeletal disease |
(LGMDD1) DNAJB6 [HSA:10049] [KO:K09512] (LGMDD2) TNPO3 [HSA:23534] [KO:K15436] (LGMDD3) HNRNPDL [HSA:9987] [KO:K13044] (LGMDD4/R1) CAPN3 [HSA:825] [KO:K08573] (LGMDR2) DYSF [HSA:8291] [KO:K18261] (LGMDR3) SGCA [HSA:6442] [KO:K12565] (LGMDR4) SGCB [HSA:6443] [KO:K12566] (LGMDR5) SGCG [HSA:6445] [KO:K12564] (LGMDR6) SGCD [HSA:6444] [KO:K12563] (LGMDR7) TCAP [HSA:8557] [KO:K19879] (LGMDR8) TRIM32 [HSA:22954] [KO:K10607] (LGMDR9) FKRP [HSA:79147] [KO:K19873] (LGMDR10) TTN [HSA:7273] [KO:K12567] (LGMDR11) POMT1 [HSA:10585] [KO:K00728] (LGMDR12) ANO5 [HSA:203859] [KO:K19480] (LGMDR13) FKTN [HSA:2218] [KO:K19872] (LGMDR14) POMT2 [HSA:29954] [KO:K00728] (LGMDR15) POMGNT1 [HSA:55624] [KO:K09666] (LGMDR16) DAG1 [HSA:1605] [KO:K06265] (LGMDR17) PLEC [HSA:5339] [KO:K10388] (LGMDR18) TRAPPC11 [HSA:60684] [KO:K20308] (LGMDR19) GMPPB [HSA:29925] [KO:K00966] (LGMDR20) CRPPA [HSA:729920] [KO:K21031] (LGMDR21) POGLUT1 [HSA:56983] [KO:K13667] (LGMDR23) LAMA2 [HSA:3908] [KO:K05637] (LGMDR24) POMGNT2 [HSA:84892] [KO:K18207] (LGMDR25) BVES [HSA:11149] [KO:K21108] (LGMDR26) POPDC3 [HSA:64208] [KO:K26207] (LGMDR27) JAG2 [HSA:3714] [KO:K21635] (LGMDR28) HMGCR [HSA:3156] [KO:K00021] (MDRCMTT) LIMS2 [HSA:55679] [KO:K23354] (MRRSDC) TOR1AIP1 [HSA:26092] [KO:K23001] |
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H00599 |
Ovarian dysgenesis 46,XX gonadal dysgenesis |
Ovarian dysgenesis (ODG), also known as 46,XX gonadal dysgenesis, is a rare, genetically heterogeneous disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia ... | Reproductive system disease |
(ODG1) FSHR [HSA:2492] [KO:K04247] (ODG2) BMP15 [HSA:9210] [KO:K05498] (ODG3) PSMC3IP [HSA:29893] [KO:K06695] (ODG4) MCM9 [HSA:254394] [KO:K10738] (ODG5) SOHLH1 [HSA:402381] [KO:K22495] (ODG6) NUP107 [HSA:57122] [KO:K14301] (ODG7) MRPS22 [HSA:56945] [KO:K17401] (ODG8) ESR2 [HSA:2100] [KO:K08551] (ODG9) SPIDR [HSA:23514] [KO:K22806] (ODG10) ZSWIM7 [HSA:125150] [KO:K25770] |
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H00605 | Deafness, autosomal recessive | Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases ... | Nervous system disease |
(DFNB1A) GJB2 [HSA:2706] [KO:K07621] (DFNB1A) GJB3 [HSA:2707] [KO:K07622] (DFNB1B) GJB6 [HSA:10804] [KO:K07625] (DFNB2) MYO7A [HSA:4647] [KO:K10359] (DFNB3) MYO15A [HSA:51168] [KO:K10361] (DFNB4) SLC26A4 [HSA:5172] [KO:K14702] (DFNB4) FOXI1 [HSA:2299] [KO:K09401] (DFNB4) KCNJ10 [HSA:3766] [KO:K05003] (DFNB6) TMIE [HSA:259236] [KO:K23907] (DFNB7/11) TMC1 [HSA:117531] [KO:K21988] (DFNB8/10) TMPRSS3 [HSA:64699] [KO:K09634] (DFNB9) OTOF [HSA:9381] [KO:K19949] (DFNB12) CDH23 [HSA:64072] [KO:K06813] (DFNB12) ATP2B2 [HSA:491] [KO:K05850] (DFNB15) GIPC3 [HSA:126326] [KO:K20056] (DFNB16) STRC [HSA:161497] [KO:K24636] (DFNB18A) USH1C [HSA:10083] [KO:K21877] (DFNB18B) OTOG [HSA:340990] [KO:K25030] (DFNB21) TECTA [HSA:7007] [KO:K18273] (DFNB22) OTOA [HSA:146183] [KO:K25029] (DFNB23) PCDH15 [HSA:65217] [KO:K16500] (DFNB24) RDX [HSA:5962] [KO:K05762] (DFNB25) GRXCR1 [HSA:389207] [KO:K17479] (DFNB26) GAB1 [HSA:2549] [KO:K09593] (DFNB26) METTL13 [HSA:51603] [KO:K25166] (DFNB28) TRIOBP [HSA:11078] [KO:K23751] (DFNB29) CLDN14 [HSA:23562] [KO:K06087] (DFNB30) MYO3A [HSA:53904] [KO:K08834] (DFNB31) WHRN [HSA:25861] [KO:K21879] (DFNB32) CDC14A [HSA:8556] [KO:K06639] (DFNB35) ESRRB [HSA:2103] [KO:K08553] (DFNB36) ESPN [HSA:83715] [KO:K24047] (DFNB37) MYO6 [HSA:4646] [KO:K10358] (DFNB39) HGF [HSA:3082] [KO:K05460] (DFNB42) ILDR1 [HSA:286676] [KO:K25781] (DFNB44) ADCY1 [HSA:107] [KO:K08041] (DFNB48) CIB2 [HSA:10518] [KO:K23837] (DFNB49) MARVELD2 [HSA:153562] [KO:K17291] (DFNB53) COL11A2 [HSA:1302] [KO:K19721] (DFNB57) PDZD7 [HSA:79955] [KO:K21882] (DFNB59) PJVK [HSA:494513] [KO:K22147] (DFNB61) SLC26A5 [HSA:375611] [KO:K14703] (DFNB63) LRTOMT [HSA:220074] [KO:K00545] (DFNB66) DCDC2 [HSA:51473] [KO:K23405] (DFNB67) LHFPL5 [HSA:222662] [KO:K23893] (DFNB68) S1PR2 [HSA:9294] [KO:K04292] (DFNB70) PNPT1 [HSA:87178] [KO:K00962] (DFNB74) MSRB3 [HSA:253827] [KO:K07305] (DFNB76) SYNE4 [HSA:163183] [KO:K23401] (DFNB77) LOXHD1 [HSA:125336] [KO:K24822] (DFNB79) TPRN [HSA:286262] [KO:K24164] (DFNB82) GPSM2 [HSA:29899] [KO:K15837] (DFNB84A) PTPRQ [HSA:374462] [KO:K16910] (DFNB84B) OTOGL [HSA:283310] [KO:K25030] (DFNB86) TBC1D24 [HSA:57465] [KO:K21841] (DFNB88) ELMOD3 [HSA:84173] [KO:K23538] (DFNB89) KARS1 [HSA:3735] [KO:K04567] (DFNB91) SERPINB6 [HSA:5269] [KO:K13963] (DFNB93) CABP2 [HSA:51475] [KO:K23531] (DFNB94) NARS2 [HSA:79731] [KO:K01893] (DFNB97) MET [HSA:4233] [KO:K05099] (DFNB98) TSPEAR [HSA:54084] [KO:K24437] (DFNB99) TMEM132E [HSA:124842] [KO:K17599] (DFNB100) PPIP5K2 [HSA:23262] [KO:K13024] (DFNB101) GRXCR2 [HSA:643226] [KO:K24294] (DFNB102) EPS8 [HSA:2059] [KO:K17277] (DFNB103) CLIC5 [HSA:53405] [KO:K05025] (DFNB104) RIPOR2 [HSA:9750] [KO:K24818] (DFNB106) EPS8L2 [HSA:64787] [KO:K17277] (DFNB107) WBP2 [HSA:23558] [KO:K22524] (DFNB108) ROR1 [HSA:4919] [KO:K05122] (DFNB109) ESRP1 [HSA:54845] [KO:K14947] (DFNB110) COCH [HSA:1690] [KO:K23574] (DFNB111) MPZL2 [HSA:10205] [KO:K27316] (DFNB112) BDP1 [HSA:55814] [KO:K15198] (DFNB113) CEACAM16 [HSA:388551] [KO:K06499] (DFNB114) GRAP [HSA:10750] [KO:K23694] (DFNB115) SPNS2 [HSA:124976] [KO:K23677] (DFNB116) CLDN9 [HSA:9080] [KO:K06087] (DFNB117) CLRN2 [HSA:645104] [KO:K23841] (DFNB119) SPATA5L1 [HSA:79029] [KO:K26051] (DFNB120) MINAR2 [HSA:100127206] [KO:K24830] (DFNB121) GPR156 [HSA:165829] [KO:K04617] (DFNB122) TMTC4 [HSA:84899] [KO:K23424] (DFNB123) STX4 [HSA:6810] [KO:K13502] (DFNB124) PKHD1L1 [HSA:93035] |
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H00606 |
Early infantile epileptic encephalopathy Developmental and epileptic encephalopathy Ohtahara syndrome |
Early infantile epileptic encephalopathy (EIEE), also known as developmental and epileptic encephalopathy (DEE), is characterized by frequent tonic spasms of early onset within a few months of life, and ... | Nervous system disease |
(DEE1) ARX [HSA:170302] [KO:K09452] (DEE2) CDKL5 [HSA:6792] [KO:K08824] (DEE3) SLC25A22 [HSA:79751] [KO:K15107] (DEE4) STXBP1 [HSA:6812] [KO:K15292] (DEE5) SPTAN1 [HSA:6709] [KO:K06114] (DEE6B) SCN1A [HSA:6323] [KO:K04833] (DEE7) KCNQ2 [HSA:3785] [KO:K04927] (DEE8) ARHGEF9 [HSA:23229] [KO:K20686] (DEE9) PCDH19 [HSA:57526] [KO:K16499] (DEE10) PNKP [HSA:11284] [KO:K08073] (DEE11) SCN2A [HSA:6326] [KO:K04834] (DEE12) PLCB1 [HSA:23236] [KO:K05858] (DEE13) SCN8A [HSA:6334] [KO:K04840] (DEE14) KCNT1 [HSA:57582] [KO:K04946] (DEE15) ST3GAL3 [HSA:6487] [KO:K00781] (DEE16) TBC1D24 [HSA:57465] [KO:K21841] (DEE17) GNAO1 [HSA:2775] [KO:K04534] (DEE18) SZT2 [HSA:23334] [KO:K23298] (DEE19) GABRA1 [HSA:2554] [KO:K05175] (DEE21) NECAP1 [HSA:25977] [KO:K20069] (DEE22) SLC35A2 [HSA:7355] [KO:K15272] (DEE23) DOCK7 [HSA:85440] [KO:K21852] (DEE24) HCN1 [HSA:348980] [KO:K04954] (DEE25) SLC13A5 [HSA:284111] [KO:K14445] (DEE26) KCNB1 [HSA:3745] [KO:K04885] (DEE27) GRIN2B [HSA:2904] [KO:K05210] (DEE28) WWOX [HSA:51741] [KO:K19329] (DEE29) AARS [HSA:16] [KO:K01872] (DEE30) SIK1 [HSA:150094] [KO:K19008] (DEE31A/31B) DNM1 [HSA:1759] [KO:K01528] (DEE32) KCNA2 [HSA:3737] [KO:K04875] (DEE33) EEF1A2 [HSA:1917] [KO:K03231] (DEE34) SLC12A5 [HSA:57468] [KO:K23967] (DEE35) ITPA [HSA:3704] [KO:K01519] (DEE36) ALG13 [HSA:79868] [KO:K07432] (DEE37) FRRS1L [HSA:23732] [KO:K25381] (DEE38) ARV1 [HSA:64801] [KO:K21848] (DEE39) SLC25A12 [HSA:8604] [KO:K15105] (DEE40) GUF1 [HSA:60558] [KO:K21594] (DEE41) SLC1A2 [HSA:6506] [KO:K05613] (DEE42) CACNA1A [HSA:773] [KO:K04344] (DEE43) GABRB3 [HSA:2562] [KO:K05181] (DEE44) UBA5 [HSA:79876] [KO:K12164] (DEE45) GABRB1 [HSA:2560] [KO:K05181] (DEE46) GRIN2D [HSA:2906] [KO:K05212] (DEE47) FGF12 [HSA:2257] [KO:K22413] (DEE48) AP3B2 [HSA:8120] [KO:K12397] (DEE49) DENND5A [HSA:23258] [KO:K20164] (DEE50) CAD [HSA:790] [KO:K11540] (DEE51) MDH2 [HSA:4191] [KO:K00026] (DEE52) SCN1B [HSA:6324] [KO:K04845] (DEE53) SYNJ1 [HSA:8867] [KO:K20279] (DEE54) HNRNPU [HSA:3192] [KO:K12888] (DEE55) PIGP [HSA:51227] [KO:K03861] (DEE56) YWHAG [HSA:7532] [KO:K16198] (DEE57) KCNT2 [HSA:343450] [KO:K04947] (DEE58) NTRK2 [HSA:4915] [KO:K04360] (DEE59) GABBR2 [HSA:9568] [KO:K04615] (DEE60) CNPY3 [HSA:10695] [KO:K22816] (DEE61) ADAM22 [HSA:53616] [KO:K16068] (DEE62) SCN3A [HSA:6328] [KO:K04836] (DEE63) CPLX1 [HSA:10815] [KO:K15294] (DEE64) RHOBTB2 [HSA:23221] [KO:K07868] (DEE65) CYFIP2 [HSA:26999] [KO:K05749] (DEE66) PACS2 [HSA:23241] [KO:K23294] (DEE67) CUX2 [HSA:23316] [KO:K09313] (DEE68) TRAK1 [HSA:22906] [KO:K15369] (DEE69) CACNA1E [HSA:777] [KO:K04852] (DEE70) PHACTR1 [HSA:221692] [KO:K17594] (DEE71) GLS [HSA:2744] [KO:K01425] (DEE72) NEUROD2 [HSA:4761] [KO:K09078] (DEE73) RNF13 [HSA:11342] [KO:K15692] (DEE74) GABRG2 [HSA:2566] [KO:K05186] (DEE75) PARS2 [HSA:25973] [KO:K01881] (DEE76) ACTL6B [HSA:51412] [KO:K11652] (DEE77) PIGQ [HSA:9091] [KO:K03860] (DEE78) GABRA2 [HSA:2555] [KO:K05175] (DEE79) GABRA5 [HSA:2558] [KO:K05175] (DEE80) PIGB [HSA:9488] [KO:K05286] (DEE81) DMXL2 [HSA:23312] [KO:K24155] (DEE82) GOT2 [HSA:2806] [KO:K14455] (DEE83) UGP2 [HSA:7360] [KO:K00963] (DEE84) UGDH [HSA:7358] [KO:K00012] (DEE85) SMC1A [HSA:8243] [KO:K06636] (DEE86) DALRD3 [HSA:55152] [KO:K24973] (DEE87) CDK19 [HSA:23097] [KO:K02208] (DEE88) MDH1 [HSA:4190] [KO:K00025] (DEE89) GAD1 [HSA:2571] [KO:K01580] (DEE90) FGF13 [HSA:2258] [KO:K22413] (DEE91) PPP3CA [HSA:5530] [KO:K04348] (DEE92) GABRB2 [HSA:2561] [KO:K05181] (DEE93) ATP6V1A [HSA:523] [KO:K02145] (DEE94) CHD2 [HSA:1106] [KO:K20091] (DEE95) PIGS [HSA:94005] [KO:K05291] (DEE96) NSF [HSA:4905] [KO:K06027] (DEE97) CELF2 [HSA:10659] [KO:K13207] (DEE98) ATP1A2 [HSA:477] [KO:K01539] (DEE99) ATP1A3 [HSA:478] [KO:K01539] (DEE100) FBXO28 [HSA:23219] [KO:K10306] (DEE101) GRIN1 [HSA:2902] [KO:K05208] (DEE102) SLC38A3 [HSA:10991] [KO:K13576] (DEE103) KCNC2 [HSA:3747] [KO:K04888] (DEE104) ATP6V0A1 [HSA:535] [KO:K02154] (DEE105) HID1 [HSA:283987] (DEE106) UFSP2 [HSA:55325] [KO:K01376] (DEE107) NAPB [HSA:63908] [KO:K26120] (DEE108) MAST3 [HSA:23031] [KO:K08789] (DEE109) FZR1 [HSA:51343] [KO:K03364] (DEE110) CACNA2D1 [HSA:781] [KO:K04858] (DEE111) DEPDC5 [HSA:9681] [KO:K20404] (DEE112) KCNH5 [HSA:27133] [KO:K04908] (DEE113) SV2A [HSA:9900] [KO:K06258] (DEE114) SLC32A1 [HSA:140679] [KO:K15015] (DEE115) SNF8 [HSA:11267] [KO:K12188] (DEE116) GLUL [HSA:2752] [KO:K01915] |
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H00624 | Progressive familial intrahepatic cholestasis | Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of rare, genetic autosomal recessive disorders characterized by unremitting cholestasis and progression to liver failure. The ... | Inherited metabolic disorder |
(PFIC1) ATP8B1 [HSA:5205] [KO:K01530] (PFIC2) ABCB11 [HSA:8647] [KO:K05664] (PFIC3) ABCB4 [HSA:5244] [KO:K05659] (PFIC4) TJP2 [HSA:9414] [KO:K06098] (PFIC5) NR1H4 [HSA:9971] [KO:K08537] (PFIC6) SLC51A [HSA:200931] [KO:K14360] (PFIC7) USP53 [HSA:54532] (PFIC8) KIF12 [HSA:113220] [KO:K10399] (PFIC9) ZFYVE19 [HSA:84936] [KO:K24778] (PFIC10) MYO5B [HSA:4645] [KO:K10357] (PFIC11) SEMA7A [HSA:8482] [KO:K06529] (PFIC12) VPS33B [HSA:26276] [KO:K23281] |
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H00631 | Cornelia de Lange syndrome | ... hirsutism, and gastrointestinal abnormalities. About 65% of patients harbor mutations in genes that encode subunits or regulators of the cohesin complex, including NIPBL, SMC1A, SMC3, RAD21, and HDAC8. | Congenital malformation |
(CDLS1) NIPBL [HSA:25836] [KO:K06672] (CDLS2) SMC1A [HSA:8243] [KO:K06636] (CDLS3) SMC3 [HSA:9126] [KO:K06669] (CDLS4) RAD21 [HSA:5885] [KO:K06670] (CDLS5) HDAC8 [HSA:55869] [KO:K11405] (CDLS6) BRD4 [HSA:23476] [KO:K11722] |
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H00632 |
Heterotaxy Situs ambiguus |
Heterotaxy, or situs ambiguus, is an abnormal arrangement of the thoracic and abdominal viscera. The phenotype with mirror-image reversed left-right axis is called situs inversus, while partial alterations ... | Congenital malformation |
(HTX1) ZIC3 [HSA:7547] [KO:K18487] (HTX2) CFC1 [HSA:55997] [KO:K25454] (HTX4) ACVR2B [HSA:93] [KO:K13596] (HTX5) NODAL [HSA:4838] [KO:K04666] (HTX6) CFAP53 [HSA:220136] [KO:K24225] (HTX7) MMP21 [HSA:118856] [KO:K08000] (HTX8) PKD1L1 [HSA:168507] [KO:K04987] (HTX9) MNS1 [HSA:55329] [KO:K25441] (HTX10) CFAP52 [HSA:146845] [KO:K24728] (HTX11) CFAP45 [HSA:25790] [KO:K25551] (HTX12) CIROP [HSA:100128908] (RAI) GDF1 [HSA:2657] [KO:K05495] |
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H00674 | Anemia due to disorders of nucleotide metabolism | Abnormalities in erythrocyte nucleotide metabolism are associated with hereditary nonspherocytic hemolytic anemia. Deficiencies of adenylate kinase and pyrimidine 5'-nucleotidase shorten the red cell lifespan | Hematologic disease |
(AK) AK1 [HSA:203] [KO:K00939] (P5N) NT5C3A [HSA:51251] [KO:K24242] |
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H00679 |
Hypomyelinating leukodystrophy Pelizaeus-Merzbacher disease (PMD) |
Hypomyelinating leukodystrophies (HMLs) are disorders involving aberrant myelin formation in the central nervous system. They are clinically characterized by early onset nystagmus, impaired motor development ... | Inherited metabolic disorder |
(HLD1/PMD) PLP1 [HSA:5354] [KO:K17271] (HLD2) GJC2 [HSA:57165] [KO:K07619] (HLD3) AIMP1 [HSA:9255] [KO:K15437] (HLD4) HSPD1 [HSA:3329] [KO:K04077] (HLD5) FAM126A [HSA:84668] [KO:K21844] (HLD6) TUBB4A [HSA:10382] [KO:K07375] (HLD7) POLR3A [HSA:11128] [KO:K03018] (HLD8) POLR3B [HSA:55703] [KO:K03021] (HLD9) RARS1 [HSA:5917] [KO:K01887] (HLD10) PYCR2 [HSA:29920] [KO:K00286] (HLD11) POLR1C [HSA:9533] [KO:K03027] (HLD12) VPS11 [HSA:55823] [KO:K20179] (HLD13) HIKESHI [HSA:51501] [KO:K23327] (HLD14) UFM1 [HSA:51569] [KO:K12162] (HLD15) EPRS1 [HSA:2058] [KO:K14163] (HLD16) TMEM106B [HSA:54664] [KO:K25048] (HLD17) AIMP2 [HSA:7965] [KO:K15438] (HLD18) DEGS1 [HSA:8560] [KO:K04712] (HLD19) TMEM63A [HSA:9725] [KO:K21989] (HLD20) CNP [HSA:1267] [KO:K01121] (HLD21) POLR3K [HSA:51728] [KO:K03019] (HLD22) CLDN11 [HSA:5010] [KO:K06087] (HLD23) RNF220 [HSA:55182] [KO:K25174] (HLD24) ATP11A [HSA:23250] [KO:K26934] (HLD25) TMEM163 [HSA:81615] [KO:K14694] (HLD26) SLC35B2 [HSA:347734] [KO:K15276] (HLD27) POLR1A [HSA:25885] [KO:K02999] |
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H00684 | Pachyonychia congenita | Pachyonychia congenita (PC) is a group of autosomal dominant skin disorders characterized by hypertrophic nail dystrophy accompanied by other features of ectodermal dysplasia, prominently painful palmoplantar ... | Congenital malformation |
(PC1) KRT16 [HSA:3868] [KO:K07604] (PC2) KRT17 [HSA:3872] [KO:K07604] (PC3) KRT6A [HSA:3853] [KO:K07605] (PC4) KRT6B [HSA:3854] [KO:K07605] |
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H00768 |
Autosomal recessive intellectual developmental disorder Autosomal recessive mental retardation |
Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. To date ... | Mental and behavioural disorder |
(MRT1) PRSS12 [HSA:8492] [KO:K09624] (MRT2) CRBN [HSA:51185] [KO:K11793] (MRT3) CC2D1A [HSA:54862] [KO:K18260] (MRT5) NSUN2 [HSA:54888] [KO:K15335] (MRT6) GRIK2 [HSA:2898] [KO:K05202] (MRT7) TUSC3 [HSA:7991] [KO:K19478] (MRT12) ST3GAL3 [HSA:6487] [KO:K00781] (MRT13) TRAPPC9 [HSA:83696] [KO:K20306] (MRT14) TECR [HSA:9524] [KO:K10258] (MRT15) MAN1B1 [HSA:11253] [KO:K23741] (MRT18) MED23 [HSA:9439] [KO:K15166] (MRT27) LINS1 [HSA:55180] [KO:K22533] (MRT34) CRADD [HSA:8738] [KO:K02832] (MRT36) ADAT3 [HSA:113179] [KO:K15442] (MRT37) ANK3 [HSA:288] [KO:K09259] (MRT38) HERC2 [HSA:8924] [KO:K10595] (MRT39) TTI2 [HSA:80185] [KO:K23115] (MRT40) TAF2 [HSA:6873] [KO:K03128] (MRT41) KPTN [HSA:11133] [KO:K23295] (MRT42) PGAP1 [HSA:80055] [KO:K05294] (MRT43) WASHC4 [HSA:23325] [KO:K18465] (MRT44) METTL23 [HSA:124512] [KO:K23151] (MRT45) FBXO31 [HSA:79791] [KO:K10308] (MRT46) NDST1 [HSA:3340] [KO:K02576] (MRT47) FMN2 [HSA:56776] [KO:K02184] (MRT48) SLC6A17 [HSA:388662] [KO:K05048] (MRT49) GPT2 [HSA:84706] [KO:K00814] (MRT50) EDC3 [HSA:80153] [KO:K12615] (MRT51) HNMT [HSA:3176] [KO:K00546] (MRT52) LMAN2L [HSA:81562] [KO:K10083] (MRT53) PIGG [HSA:54872] [KO:K05310] (MRT54) TNIK [HSA:23043] [KO:K08840] (MRT55) PUS3 [HSA:83480] [KO:K01855] (MRT56) ZC3H14 [HSA:79882] [KO:K23038] (MRT57) MBOAT7 [HSA:79143] [KO:K13516] (MRT58) ELP2 [HSA:55250] [KO:K11374] (MRT59) IMPA1 [HSA:3612] [KO:K01092] (MRT60) TAF13 [HSA:6884] [KO:K03127] (MRT61) RUSC2 [HSA:9853] [KO:K23291] (MRT62) PIGC [HSA:5279] [KO:K03859] (MRT63) CAMK2A [HSA:815] [KO:K04515] (MRT64) LINGO1 [HSA:84894] [KO:K23533] (MRT65) KDM5B [HSA:10765] [KO:K11446] (MRT66) C12orf4 [HSA:57102] (MRT67) EIF3F [HSA:8665] [KO:K03249] (MRT68) TRMT1 [HSA:55621] [KO:K00555] (MRT69) ZBTB11 [HSA:27107] [KO:K10498] (MRT70) RSRC1 [HSA:51319] [KO:K24594] (MRT71) ALKBH8 [HSA:91801] [KO:K10770] (MRT72) METTL5 [HSA:29081] [KO:K24418] (MRT73) NAA20 [HSA:51126] [KO:K17972] (MRT74) APC2 [HSA:10297] [KO:K02085] (MRT75) PIDD1 [HSA:55367] [KO:K10130] (MRT76) GRIA1 [HSA:2890] [KO:K05197] (MRT77) CEP104 [HSA:9731] [KO:K16458] (MRT78) WDR11 [HSA:55717] [KO:K24260] (MRT79) TPR [HSA:7175] [KO:K09291] (MRT80) CASP2 [HSA:835] [KO:K02186] (MRT81) ASCC3 [HSA:10973] [KO:K18663] (MRT82) NSUN6 [HSA:221078] [KO:K21971] |
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