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Entry Name Description Category Pathway Gene
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]
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]
(SPGF91) CCIN [HSA:881] [KO:K24809]
(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]
H01396 Moyamoya disease Moyamoya disease is a rare cerebrovascular disease characterized by a progressive stenosis or occlusion of the terminal portion of the internal carotid artery. This disease is associated with the compensatory ... Cardiovascular disease (MYMY2) RNF213 [HSA:57674] [KO:K22754]
(MYMY5) ACTA2 [HSA:59] [KO:K12313]
(MYMY6) GUCY1A3 [HSA:2982] [KO:K12318]
(MYMY7) ANO1 [HSA:55107] [KO:K19496]
H02144 Gordon Holmes syndrome
Cerebellar ataxia and hypogonadotropic hypogonadism 		... cognitive decline, dementia, and other clinical features such as ataxia and hypogonadotropism. Multiple loss-of-function mutations in RNF216 gene have recently been identified in patients suffering from GHS. Nervous system disease RNF216 [HSA:54476] [KO:K11976]
H02587 Luo-Schoch-Yamamoto syndrome Luo-Schoch-Yamamoto syndrome (LUSYAM) is a novel neurodevelopmental disorder caused by mutations in RNF2. LUSYAM is characterized by global developmental delay, severe intellectual disabilities, behavioral ... Congenital malformation RNF2 [HSA:6045] [KO:K10695]
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