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Entry Name Description Category Pathway Gene
H00219 Hemophilia Hemophilia A and B are X-linked recessive disorders which are the most common hereditary hemorrhagic disorders caused by a deficiency or dysfunction of blood coagulation factor VIII (FVIII) and factor ... Hematologic disease (HEMA) F8 [HSA:2157] [KO:K03899]
(HEMB) F9 [HSA:2158] [KO:K01321]
(VWD) VWF [HSA:7450] [KO:K03900]
(VWDP) GP1BA [HSA:2811] [KO:K06261]
H00223 Inherited thrombophilia
Thrombophilia due to thrombin defect (THPH) 		Congenital thrombophilias are inherited disorders associated with an increased tendency to venous thromboembolism caused by mutation of genes affecting the anticoagulant pathways of blood coagulation. Hematologic disease (THPH1) F2 [HSA:2147] [KO:K01313]
(THPH2) F5 [HSA:2153] [KO:K03902]
(THPH3/4) PROC [HSA:5624] [KO:K01344]
(THPH5/6) PROS1 [HSA:5627] [KO:K03908]
(THPH7) SERPINC1 [HSA:462] [KO:K03911]
(THPH8) F9 [HSA:2158] [KO:K01321]
(THPH10) SERPIND1 [HSA:3053] [KO:K03912]
(THPH11) HRG [HSA:3273] [KO:K23410]
(THPH12) THBD [HSA:7056] [KO:K03907]
(THPH13) F8 [HSA:2157] [KO:K03899]
FGA [HSA:2243] [KO:K03903]
FGB [HSA:2244] [KO:K03904]
FGG [HSA:2266] [KO:K03905]
H00484 Multiple synostosis syndrome Proximal symphalangism is a condition characterized by variable fusion of the proximal interphalangeal joints. Multiple synostosis syndrome (SYNS) is a more severe form of proximal symphalangism with additional ... Congenital malformation (SYNS1) NOG [HSA:9241] [KO:K04658]
(SYNS2) GDF5 [HSA:8200] [KO:K04664]
(SYNS3) FGF9 [HSA:2254] [KO:K04358]
(SYNS4) GDF6 [HSA:392255] [KO:K20012]
H00568 Myotonic dystrophy ... the 3' untranslated region (UTR) of DMPK. DM2 is caused by an unstable CCTG repeat in intron 1 of ZNF9. Therefore, both DMs are caused by a repeat expansion in a region transcribed into RNA but not translated ... Nervous system disease; Musculoskeletal disease (DM1) DMPK [HSA:1760] [KO:K08788]
(DM2) CNBP [HSA:7555] [KO:K09250]
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]
H00627 Premature ovarian failure Premature ovarian failure (POF) is characterized by amenorrhea before the age of 40 years with elevated levels of gonadotrophin (LH and FSH) and low levels of gonadal hormones (estrogens and inhibins) ... Reproductive system disease (POF1) FMR1 [HSA:2332] [KO:K15516]
(POF2A) DIAPH2 [HSA:1730] [KO:K05741]
(POF2B) POF1B [HSA:79983] [KO:K23917]
(POF3) FOXL2 [HSA:668] [KO:K09405]
(POF4) BMP15 [HSA:9210] [KO:K05498]
(POF5) NOBOX [HSA:135935] [KO:K24199]
(POF6) FIGLA [HSA:344018] [KO:K09066]
(POF7) NR5A1 [HSA:2516] [KO:K08560]
(POF8) STAG3 [HSA:10734] [KO:K13055]
(POF9) HFM1 [HSA:164045] [KO:K15271]
(POF10) MCM8 [HSA:84515] [KO:K10737]
(POF11) ERCC6 [HSA:2074] [KO:K10841]
(POF12) SYCE1 [HSA:93426] [KO:K19534]
(POF13) MSH5 [HSA:4439] [KO:K08741]
(POF14) GDF9 [HSA:2661] [KO:K22673]
(POF15) FANCM [HSA:57697] [KO:K10896]
(POF16) BNC1 [HSA:646] [KO:K24146]
(POF17) XRCC2 [HSA:7516] [KO:K10879]
(POF18) C14orf39 [HSA:317761] [KO:K25705]
(POF19) HSF2BP [HSA:11077] [KO:K25791]
(POF20) MSH4 [HSA:4438] [KO:K08740]
(POF21) TP63 [HSA:8626] [KO:K10149]
(POF22) KASH5 [HSA:147872] [KO:K22595]
(POF23) MEIOB [HSA:254528] [KO:K22420]
H01109 Chronic mucocutaneous candidiasis
Familial candidiasis (CANDF) 		Chronic mucocutaneous candidiasis (CMC) is manifested as a primary immunodeficiency characterized by persistent or recurrent infections of the mucosa or the skin with candida species. Most cases are sporadic ... Immune system disease (CANDF2) CARD9 [HSA:64170] [KO:K12794]
(CANDF4) CLEC7A [HSA:64581] [KO:K10074]
(CANDF5) IL17RA [HSA:23765] [KO:K05164]
(CANDF6) IL17F [HSA:112744] [KO:K05494]
(CANDF7) STAT1 [HSA:6772] [KO:K11220]
(CANDF8) TRAF3IP2 [HSA:10758] [KO:K21124]
(CANDF9) IL17RC [HSA:84818] [KO:K05166]
H01208 Globozoospermia
Round-headed spermatozoa 		Globozoospermia is a rare form of teratozoospermia, mainly characterized by round-headed spermatozoa that lack an acrosome. Acrosome plays an important role at the site of sperm-zona pellucida binding ... Reproductive system disease (SPGF6) SPATA16 [HSA:83893] [KO:K26121]
(SPGF9) DPY19L2 [HSA:283417] [KO:K24553]
(SPGF66) ZPBP [HSA:11055] [KO:K25752]
(SPGF67) CCDC62 [HSA:84660] [KO:K26436]
(SPGF68) C2CD6 [HSA:151254] [KO:K25947]
(SPGF69) GGN [HSA:199720] [KO:K26807]
H01282 Spermatogenic failure Spermatogenic failure is reflected in a lower or absent production of spermatozoa and is described by routine semen analysis using terms such as azoospermia, oligozoospermia, teratozoospermia or asthenozoospermia ... Reproductive system disease (SPGF1) SYCP2 [HSA:10388] [KO:K19529]
(SPGF3) SLC26A8 [HSA:116369] [KO:K14705]
(SPGF4) SYCP3 [HSA:50511] [KO:K19528]
(SPGF5) AURKC [HSA:6795] [KO:K11480]
(SPGF6) SPATA16 [HSA:83893] [KO:K26121]
(SPGF7) CATSPER1 [HSA:117144] [KO:K16889]
(SPGF8) NR5A1 [HSA:2516] [KO:K08560]
(SPGF9) DPY19L2 [HSA:283417] [KO:K24553]
(SPGF10) SEPTIN12 [HSA:124404] [KO:K16938]
(SPGF11) KLHL10 [HSA:317719] [KO:K10448]
(SPGF12) NANOS1 [HSA:340719] [KO:K18741]
(SPGF13) TAF4B [HSA:6875] [KO:K03129]
(SPGF14) ZMYND15 [HSA:84225] [KO:K24081]
(SPGF15) SYCE1 [HSA:93426] [KO:K19534]
(SPGF16) SUN5 [HSA:140732] [KO:K21876]
(SPGF17) PLCZ1 [HSA:89869] [KO:K05861]
(SPGF18) DNAH1 [HSA:25981] [KO:K10408]
(SPGF19) CFAP43 [HSA:80217] [KO:K24223]
(SPGF20) CFAP44 [HSA:55779] [KO:K24224]
(SPGF21) BRDT [HSA:676] [KO:K11724]
(SPGF22) MEIOB [HSA:254528] [KO:K22420]
(SPGF23) TEX14 [HSA:56155] [KO:K17540]
(SPGF24) CFAP69 [HSA:79846] [KO:K24227]
(SPGF25) TEX15 [HSA:56154] [KO:K25680]
(SPGF26) TSGA10 [HSA:80705] [KO:K25632]
(SPGF27) AK7 [HSA:122481] [KO:K00939]
(SPGF28) FANCM [HSA:57697] [KO:K10896]
(SPGF29) SPINK2 [HSA:6691] [KO:K23418]
(SPGF30) TDRD9 [HSA:122402] [KO:K18408]
(SPGF31) PMFBP1 [HSA:83449] [KO:K23223]
(SPGF32) SOHLH1 [HSA:402381] [KO:K22495]
(SPGF33) CFAP251 [HSA:144406] [KO:K24228]
(SPGF34) FSIP2 [HSA:401024] [KO:K26675]
(SPGF35) QRICH2 [HSA:84074] [KO:K24298]
(SPGF36) PPP2R3C [HSA:55012] [KO:K11583]
(SPGF37) TTC21A [HSA:199223] [KO:K24178]
(SPGF38) ARMC2 [HSA:84071] [KO:K24123]
(SPGF39) DNAH17 [HSA:8632] [KO:K10408]
(SPGF40) CFAP65 [HSA:255101] [KO:K24226]
(SPGF41) CFAP70 [HSA:118491] [KO:K24932]
(SPGF42) TTC29 [HSA:83894] [KO:K24937]
(SPGF43) SPEF2 [HSA:79925] [KO:K25615]
(SPGF44) CEP112 [HSA:201134] [KO:K16767]
(SPGF45) DNAH2 [HSA:146754] [KO:K10408]
(SPGF46) DNAH8 [HSA:1769] [KO:K10408]
(SPGF47) DZIP1 [HSA:22873] [KO:K16470]
(SPGF48) M1AP [HSA:130951] [KO:K26106]
(SPGF49) CFAP58 [HSA:159686] [KO:K25554]
(SPGF50) XRCC2 [HSA:7516] [KO:K10879]
(SPGF51) CFAP91 [HSA:89876] [KO:K25461]
(SPGF52) C14orf39 [HSA:317761] [KO:K25705]
(SPGF53) ACTL9 [HSA:284382]
(SPGF54) CATIP [HSA:375307] [KO:K25788]
(SPGF55) SPAG17 [HSA:200162] [KO:K25533]
(SPGF56) DNAH10 [HSA:196385] [KO:K10408]
(SPGF57) PNLDC1 [HSA:154197] [KO:K01148]
(SPGF58) IFT74 [HSA:80173] [KO:K19679]
(SPGF59) TERB2 [HSA:145645] [KO:K25750]
(SPGF60) TERB1 [HSA:283847] [KO:K25749]
(SPGF61) STAG3 [HSA:10734] [KO:K13055]
(SPGF62) RNF212 [HSA:285498] [KO:K25662]
(SPGF63) RPL10L [HSA:140801] [KO:K02866]
(SPGF64) FBXO43 [HSA:286151] [KO:K10318]
(SPGF65) DNHD1 [HSA:144132] [KO:K26555]
(SPGF66) ZPBP [HSA:11055] [KO:K25752]
(SPGF67) CCDC62 [HSA:84660] [KO:K26436]
(SPGF68) C2CD6 [HSA:151254] [KO:K25947]
(SPGF69) GGN [HSA:199720] [KO:K26807]
(SPGF70) PDHA2 [HSA:5161] [KO:K00161]
(SPGF71) ZSWIM7 [HSA:125150] [KO:K25770]
(SPGF72) WDR19 [HSA:57728] [KO:K19671]
(SPGF73) MOV10L1 [HSA:54456] [KO:K13983]
(SPGF74) MSH5 [HSA:4439] [KO:K08741]
(SPGF75) SHOC1 [HSA:158401]
(SPGF76) CCDC34 [HSA:91057] [KO:K16753]
(SPGF77) FKBP6 [HSA:8468] [KO:K09572]
(SPGF78) IQCN [HSA:80726] [KO:K26737]
(SPGF79) KCNU1 [HSA:157855] [KO:K05274]
(SPGF80) DRC1 [HSA:92749] [KO:K19754]
(SPGF81) TEKT3 [HSA:64518] [KO:K18630]
(SPGF82) AKAP3 [HSA:10566] [KO:K16520]
(SPGF83) DNALI1 [HSA:7802] [KO:K10410]
(SPGF84) CFAP61 [HSA:26074] [KO:K25460]
(SPGF85) SPACA1 [HSA:81833] [KO:K25513]
(SPGF86) ACTL7A [HSA:10881]
(SPGF87) ACR [HSA:49] [KO:K01317]
(SPGF88) KASH5 [HSA:147872] [KO:K22595]
(SPGF89) AK9 [HSA:221264] [KO:K18533]
(SPGF90) ARMC12 [HSA:221481] [KO:K24168]
(SPGFX2) TEX11 [HSA:56159] [KO:K24574]
(SPGFX3) CFAP47 [HSA:286464] [KO:K25552]
(SPGFX4) GCNA [HSA:93953] [KO:K26957]
(SPGFX5) SSX1 [HSA:6756] [KO:K15624]
(SPGFX6) USP26 [HSA:83844] [KO:K11850]
(SPGFX7) CT55 [HSA:54967] [KO:K25478]
H01725 Primary immunodeficiency disease Primary immunodeficiency diseases (PIDs) are genetically determined disorders of the immune system resulting in greatly enhanced susceptibility to infectious disease, autoimmunity and malignancy. Many ... Immune system disease hsa05340 Primary immunodeficiency (IMD101) POLR3F [HSA:10621] [KO:K03025]
(IMD102) SASH3 [HSA:54440] [KO:K23706]
(IMD109) TNFRSF9 [HSA:3604] [KO:K05146]
(IMD111/HATIS) DPP9 [HSA:91039] [KO:K08656]
(IMD113) ARPC5 [HSA:10092] [KO:K05754]
(IMD114) SLC19A1 [HSA:6573] [KO:K14609]
(IMD118) MCTS1 [HSA:28985] [KO:K07575]
H02353 Hyperekplexia and epilepsy
Early infantile epileptic encephalopathy-8 		... [DS:H00606]. It is an X-linked mental retardation and sensory hyperarousal, caused by mutations in ARHGEF9. Collybistin, encoded by ARHGEF9, is a RhoGEF family protein and highly expressed in the developing ... Nervous system disease ARHGEF9 [HSA:23229] [KO:K20686]
H02525 Disorders of innate immunity Innate immune responses represent the first line of defense against potentially invading organisms. Disorders of innate immunity (e.g. phagocyte and complement disorders) delay the induction of the immune ... Immune system disease (IMD44) STAT2 [HSA:6773] [KO:K11221]
(IMD45) IFNAR2 [HSA:3455] [KO:K05131]
(IMD57) RIPK1 [HSA:8737] [KO:K02861]
(IMD63) IL2RB [HSA:3560] [KO:K05069]
(IMD65) IRF9 [HSA:10379] [KO:K04693]
(IMD77) MPEG1 [HSA:219972] [KO:K26547]
(IMD80) MCM10 [HSA:55388] [KO:K10736]
(IMD90) FADD [HSA:8772] [KO:K02373]
(IMD91) ZNFX1 [HSA:57169] [KO:K27391]
(IMD95) IFIH1 [HSA:64135] [KO:K12647]
(IMD106) IFNAR1 [HSA:3454] [KO:K05130]
(IMD115) RNF31 [HSA:55072] [KO:K11974]
(IMD117) IRF1 [HSA:3659] [KO:K09444]
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