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Entry Name Description Category Pathway Gene
H00058 Amyotrophic lateral sclerosis (ALS)
Lou Gehrig disease 		... the remaining 10% of cases show familial inheritance, with mutations in SOD1, TDP43(TARDBP), FUS, or C9orf72 genes being the most frequent causes. In spite of such difference, familial ALS and sporadic ... Neurodegenerative disease hsa05014 Amyotrophic lateral sclerosis (ALS1) SOD1 [HSA:6647] [KO:K04565]
(ALS1) NEFH [HSA:4744] [KO:K04574]
(ALS1) PRPH [HSA:5630] [KO:K07607]
(ALS1) DCTN1 [HSA:1639] [KO:K04648]
(ALS2) ALS2 [HSA:57679] [KO:K04575]
(ALS4) SETX [HSA:23064] [KO:K10706]
(ALS5) SPG11 [HSA:80208] [KO:K19026]
(ALS6) FUS [HSA:2521] [KO:K13098]
(ALS8) VAPB [HSA:9217] [KO:K10707]
(ALS9) ANG [HSA:283] [KO:K16631]
(ALS10) TARDBP [HSA:23435] [KO:K23600]
(ALS11) FIG4 [HSA:9896] [KO:K22913]
(ALS12) OPTN [HSA:10133] [KO:K19946]
(ALS15) UBQLN2 [HSA:29978] [KO:K04523]
(ALS16) SIGMAR1 [HSA:10280] [KO:K20719]
(ALS18) PFN1 [HSA:5216] [KO:K05759]
(ALS19) ERBB4 [HSA:2066] [KO:K05085]
(ALS20) HNRNPA1 [HSA:3178] [KO:K12741]
(ALS21) MATR3 [HSA:9782] [KO:K13213]
(ALS22) TUBA4A [HSA:7277] [KO:K07374]
(ALS23) ANXA11 [HSA:311] [KO:K17095]
(ALS24) NEK1 [HSA:4750] [KO:K08857]
(ALS25) KIF5A [HSA:3798] [KO:K10396]
(ALS26) TIA1 [HSA:7072] [KO:K13201]
(ALS27) SPTLC1 [HSA:10558] [KO:K00654]
(ALS28) LRP12 [HSA:29967] [KO:K20050]
(ALSPDC) TRPM7 [HSA:54822] [KO:K04982]
(ALSPDC) MAPT [HSA:4137] [KO:K04380]
H00103 Late complement pathway defects Late complement component (the final common pathway C5b-C9 components) deficiencies (LCCDs) are all inherited in an autosomal recessive manner. In all cases, homozygous recessive patients have greatly ... Primary immunodeficiency (C5D) C5 [HSA:727] [KO:K03994]
(C6D) C6 [HSA:729] [KO:K03995]
(C7D) C7 [HSA:730] [KO:K03996]
(C8D1) C8A [HSA:731] [KO:K03997]
(C8D2) C8B [HSA:732] [KO:K03998]
(C9D) C9 [HSA:735] [KO:K04000]
C8G [HSA:733] [KO:K03999]
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]
H00480 X-linked intellectual developmental disorder
X-linked mental retardation 		X-linked intellectual developmental disorder (XLID), formerly known as X-linked mental retardation, is an inherited condition that causes failure to develop cognitive abilities because of mutations in ... Mental and behavioural disorder (XLID1) IQSEC2 [HSA:23096] [KO:K12495]
(XLID3) HCFC1 [HSA:3054] [KO:K14966]
(XLID9) FTSJ1 [HSA:24140] [KO:K14864]
(XLID12) THOC2 [HSA:57187] [KO:K12879]
(XLID19) RPS6KA3 [HSA:6197] [KO:K04373]
(XLID21) IL1RAPL1 [HSA:11141] [KO:K05170]
(XLID29) ARX [HSA:170302] [KO:K09452]
(XLID30) PAK3 [HSA:5063] [KO:K05733]
(XLID41) GDI1 [HSA:2664] [KO:K17255]
(XLID58) TSPAN7 [HSA:7102] [KO:K06571]
(XLID63) ACSL4 [HSA:2182] [KO:K01897]
(XLID72) RAB39B [HSA:116442] [KO:K07925]
(XLID90) DLG3 [HSA:1741] [KO:K21098]
(XLID93) BRWD3 [HSA:254065] [KO:K11798]
(XLID96) SYP [HSA:6855]
(XLID97) ZNF711 [HSA:7552] [KO:K24376]
(XLID98) NEXMIF [HSA:340533] [KO:K25862]
(XLID99) USP9X [HSA:8239] [KO:K11840]
(XLID100) KIF4A [HSA:24137] [KO:K10395]
(XLID101) MID2 [HSA:11043] [KO:K10647]
(XLID103) KLHL15 [HSA:80311] [KO:K10452]
(XLID104) FRMPD4 [HSA:9758] [KO:K23956]
(XLID105) USP27X [HSA:389856] [KO:K11366]
(XLID106) OGT [HSA:8473] [KO:K09667]
(XLID107) STEEP1 [HSA:63932] [KO:K24996]
(XLID108) SLC9A7 [HSA:84679] [KO:K12041]
(XLID109) AFF2 [HSA:2334] [KO:K15194]
(XLID110) FGF13 [HSA:2258] [KO:K22413]
(XLID111) SLITRK2 [HSA:84631] [KO:K25833]
(XLID112) ZMYM3 [HSA:9203] [KO:K24675]
(XLID113) CSTF2 [HSA:1478] [KO:K14407]
H00530 Joubert syndrome and related disorders Joubert syndrome (JBTS) and related disorders are a group of multiple congenital anomaly syndromes characterized by 'molar tooth sign', a specific midbrain-hindbrain malformation seen in brain images. ... Congenital malformation (JBTS1) INPP5E [HSA:56623] [KO:K20278]
(JBTS2) TMEM216 [HSA:51259] [KO:K19385]
(JBTS3) AHI1 [HSA:54806] [KO:K16740]
(JBTS4) NPHP1 [HSA:4867] [KO:K19657]
(JBTS5) CEP290 [HSA:80184] [KO:K16533]
(JBTS6) TMEM67 [HSA:91147] [KO:K19348]
(JBTS7) RPGRIP1L [HSA:23322] [KO:K16550]
(JBTS8) ARL13B [HSA:200894] [KO:K07962]
(JBTS9) CC2D2A [HSA:57545] [KO:K19352]
(JBTS10) OFD1 [HSA:8481] [KO:K16480]
(JBTS11) TTC21B [HSA:79809] [KO:K19673]
(JBTS12) KIF7 [HSA:374654] [KO:K18806]
(JBTS13) TCTN1 [HSA:79600] [KO:K19382]
(JBTS14) TMEM237 [HSA:65062] [KO:K22765]
(JBTS15) CEP41 [HSA:95681] [KO:K16455]
(JBTS16) TMEM138 [HSA:51524] [KO:K22867]
(JBTS17) CPLANE1 [HSA:65250] [KO:K22859]
(JBTS18) TCTN3 [HSA:26123] [KO:K19382]
(JBTS19) ZNF423 [HSA:23090] [KO:K22870]
(JBTS20) TMEM231 [HSA:79583] [KO:K19362]
(JBTS21) CSPP1 [HSA:79848] [KO:K16771]
(JBTS22) PDE6D [HSA:5147] [KO:K13758]
(JBTS23) JBTS23 [HSA:9786] [KO:K22865]
(JBTS24) TCTN2 [HSA:79867] [KO:K19361]
(JBTS25) CEP104 [HSA:9731] [KO:K16458]
(JBTS26) KATNIP [HSA:23247] [KO:K22858]
(JBTS27) B9D1 [HSA:27077] [KO:K16744]
(JBTS28) MKS1 [HSA:54903] [KO:K19332]
(JBTS29) TMEM107 [HSA:84314] [KO:K22764]
(JBTS30) ARMC9 [HSA:80210] [KO:K22864]
(JBTS31) CEP120 [HSA:153241] [KO:K16459]
(JBTS32) SUFU [HSA:51684] [KO:K06229]
(JBTS33) PIBF1 [HSA:10464] [KO:K16538]
(JBTS34) B9D2 [HSA:80776] [KO:K16745]
(JBTS35) ARL3 [HSA:403] [KO:K07944]
(JBTS36) FAM149B1 [HSA:317662] [KO:K24653]
(JBTS37) TOGARAM1 [HSA:23116] [KO:K24886]
(JBTS38) JBTS38 [HSA:9851] [KO:K21765]
(JBTS39) TMEM218 [HSA:219854] [KO:K26674]
(JBTS40) IFT74 [HSA:80173] [KO:K19679]
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]
H00658 X-linked syndromic intellectual developmental disorder
Syndromic X-linked mental retardation 		X-linked intellectual developmental disorder (XLID), formerly known as X-linked mental retardation, is an inherited condition that causes failure to develop cognitive abilities because of mutations in ... Mental and behavioural disorder (MRXST) HUWE1 [HSA:10075] [KO:K10592]
(MRXSSD) PHF8 [HSA:23133] [KO:K19415]
(MRXSC) CUL4B [HSA:8450] [KO:K10609]
(MRXSR) ZDHHC9 [HSA:51114] [KO:K25778]
(MRXSH) ATP6AP2 [HSA:10159] [KO:K19514]
(MRXSCJ) KDM5C [HSA:8242] [KO:K11446]
(MRXSW) GRIA3 [HSA:2892] [KO:K05199]
(MRXSB) HNRNPH2 [HSA:3188] [KO:K12898]
(MRXSHG) CNKSR2 [HSA:22866] [KO:K17536]
(MRXSN) UBE2A [HSA:7319] [KO:K10573]
(MRXSBA) MSL3 [HSA:10943] [KO:K18403]
(MRXSA) FAM50A [HSA:9130] [KO:K13119]
(MRXSHD) NKAP [HSA:79576] [KO:K25931]
(MRXSPM) HS6ST2 [HSA:90161] [KO:K08102]
(VEODS) POLA1 [HSA:5422] [KO:K02320]
(MRGH) SOX3 [HSA:6658] [KO:K09267]
(MRX60) OPHN1 [HSA:4983] [KO:K20650]
(MRXSRC) CLCN4 [HSA:1183] [KO:K05012]
(MRXSSB) DDX3X [HSA:1654] [KO:K11594]
(MRXSP) GLRA2 [HSA:2742] [KO:K05194]
(TOKAS) RLIM [HSA:51132] [KO:K16271]
(PGS) AP1S2 [HSA:8905] [KO:K12394]
(MRXS11) RBMX [HSA:27316] [KO:K12885]
(MRXS13) MECP2 [HSA:4204] [KO:K11588]
(MRXS14) UPF3B [HSA:65109] [KO:K14328]
(MRXS32) CLIC2 [HSA:1193] [KO:K05022]
(MRXS33) TAF1 [HSA:6872] [KO:K03125]
(MRXS34) NONO [HSA:4841] [KO:K13214]
(MRXS35) RPL10 [HSA:6134] [KO:K02866]
(MRXS37) ZFX [HSA:7543] [KO:K27541]
H00731 Atrial fibrillation Atrial fibrillation (AF, ATFB) is the most common cardiac arrhythmia and is regarded generally as a sporadic, acquired disorder. Nevertheless, recent growing evidence points to an important heritable basis ... Cardiovascular disease (ATFB3) KCNQ1 [HSA:3784] [KO:K04926]
(ATFB4) KCNE2 [HSA:9992] [KO:K04896]
(ATFB6) NPPA [HSA:4878] [KO:K12334]
(ATFB7) KCNA5 [HSA:3741] [KO:K04878]
(ATFB9) KCNJ2 [HSA:3759] [KO:K04996]
(ATFB10) SCN5A [HSA:6331] [KO:K04838]
(ATFB11) GJA5 [HSA:2702] [KO:K07614]
(ATFB12) ABCC9 [HSA:10060] [KO:K05033]
(ATFB13) SCN1B [HSA:6324] [KO:K04845]
(ATFB14) SCN2B [HSA:6327] [KO:K04846]
(ATFB15) NUP155 [HSA:9631] [KO:K14312]
(ATFB16) SCN3B [HSA:55800] [KO:K04847]
(ATFB17) SCN4B [HSA:6330] [KO:K04848]
(ATFB18) MYL4 [HSA:4635] [KO:K12750]
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]
H00821 Age-related macular degeneration Macular degeneration is the physical breakdown of the central portion of the retina called the macula. Age-related macular degeneration (AMD/ARMD) is the leading cause of blindness. AMD is a complex disease ... Nervous system disease (ARMD1) HMCN1 [HSA:83872] [KO:K17341]
(ARMD1) CFHR1 [HSA:3078] [KO:K23815]
(ARMD1) CFHR3 [HSA:10878] [KO:K23815]
(ARMD2) ABCA4 [HSA:24] [KO:K05644]
(ARMD3) FBLN5 [HSA:10516] [KO:K17340]
(ARMD4) CFH [HSA:3075] [KO:K04004]
(ARMD5) ERCC6 [HSA:2074] [KO:K10841]
(ARMD6) RAX2 [HSA:84839] [KO:K09333]
(ARMD7) HTRA1 [HSA:5654] [KO:K08784]
(ARMD8) ARMS2 [HSA:387715] [KO:K25179]
(ARMD9) C3 [HSA:718] [KO:K03990]
(ARMD10) TLR4 [HSA:7099] [KO:K10160]
(ARMD11) CST3 [HSA:1471] [KO:K13899]
(ARMD12) CX3CR1 [HSA:1524] [KO:K04192]
(ARMD13) CFI [HSA:3426] [KO:K01333]
(ARMD14) C2 [HSA:717] [KO:K01332]
(ARMD14) CFB [HSA:629] [KO:K01335]
(ARMD15) C9 [HSA:735] [KO:K04000]
H00897 Pontocerebellar hypoplasia Pontocerebellar hypoplasia (PCH) is a group of inherited progressive neurodegenerative disorders with prenatal onset. Up to now ten different subtypes have been reported. All subtypes share common characteristics ... Congenital malformation (PCH1A) VRK1 [HSA:7443] [KO:K08816]
(PCH1B) EXOSC3 [HSA:51010] [KO:K03681]
(PCH1C) EXOSC8 [HSA:11340] [KO:K12586]
(PCH1D) EXOSC9 [HSA:5393] [KO:K03678]
(PCH1E) SLC25A46 [HSA:91137] [KO:K03454]
(PCH1F) EXOSC1 [HSA:51013] [KO:K07573]
(PCH2A/4/5) TSEN54 [HSA:283989] [KO:K15326]
(PCH2B) TSEN2 [HSA:80746] [KO:K15322]
(PCH2C) TSEN34 [HSA:79042] [KO:K15323]
(PCH2D) SEPSECS [HSA:51091] [KO:K03341]
(PCH2E) VPS53 [HSA:55275] [KO:K20299]
(PCH2F) TSEN15 [HSA:116461] [KO:K15324]
(PCH3) PCLO [HSA:27445] [KO:K16882]
(PCH6) RARS2 [HSA:57038] [KO:K01887]
(PCH7) TOE1 [HSA:114034] [KO:K13202]
(PCH8) CHMP1A [HSA:5119] [KO:K12197]
(PCH9) AMPD2 [HSA:271] [KO:K01490]
(PCH10) CLP1 [HSA:10978] [KO:K14399]
(PCH11) TBC1D23 [HSA:55773] [KO:K22555]
(PCH12) COASY [HSA:80347] [KO:K02318]
(PCH13) VPS51 [HSA:738] [KO:K20296]
(PCH14) PPIL1 [HSA:51645] [KO:K12733]
(PCH15) CDC40 [HSA:51362] [KO:K12816]
(PCH16) MINPP1 [HSA:9562] [KO:K03103]
(PCH17) PRDM13 [HSA:59336] [KO:K24645]
H00978 Thrombocytopenia (THC) Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. Inherited syndromes are ... Hematologic disease (THC1) WAS [HSA:7454] [KO:K05747]
(THC2) ANKRD26 [HSA:22852] [KO:K25138]
(THC3) FYB1 [HSA:2533] [KO:K17698]
(THC4) CYCS [HSA:54205] [KO:K08738]
(THC5) ETV6 [HSA:2120] [KO:K03211]
(THC6) SRC [HSA:6714] [KO:K05704]
(THC7) IKZF5 [HSA:64376] [KO:K09220]
(THC8) ACTB [HSA:60] [KO:K05692]
(THC9) THPO [HSA:7066] [KO:K06854]
(THC10) PTPRJ [HSA:5795] [KO:K05698]
(THC11) RAP1B [HSA:5908] [KO:K07836]
(THC12) GNE [HSA:10020] [KO:K12409]
(THC13) GALE [HSA:2582] [KO:K01784]
(XLTT/XLTDA) GATA1 [HSA:2623] [KO:K09182]
(THAMY) MPIG6B [HSA:80739] [KO:K25640]
(FPDMM) RUNX1 [HSA:861] [KO:K08367]
H01174 Congenital diarrhea Congenital diarrheas are a group of rare chronic enteropathies characterized by a heterogeneous etiology. In the first weeks of life, patients usually present with severe diarrhea that within a few hours ... Digestive system disease (DIAR1) SLC26A3 [HSA:1811] [KO:K14078]
(DIAR2/MVID1) MYO5B [HSA:4645] [KO:K10357]
(DIAR3) SPINT2 [HSA:10653] [KO:K23421]
(DIAR4) NEUROG3 [HSA:50674] [KO:K08028]
(DIAR5) EPCAM [HSA:4072] [KO:K06737]
(DIAR6) GUCY2C [HSA:2984] [KO:K12320]
(DIAR7) DGAT1 [HSA:8694] [KO:K11155]
(DIAR8) SLC9A3 [HSA:6550] [KO:K12040]
(DIAR9) WNT2B [HSA:7482] [KO:K00182]
(DIAR10) PLVAP [HSA:83483] [KO:K17309]
(DIAR11) PERCC1 [HSA:105371045]
(DIAR12/MVID2) STX3 [HSA:6809] [KO:K08486]
(DIAR13) ACSL5 [HSA:51703] [KO:K01897]
H01205 Coumarin resistance
Warfarin resistance 		... gender, and genetic factors. Warfarin acts through interference with the recycling of vitamin K in the liver. It has been reported that mutations in VKORC1, CYP2C9, and GGCX cause warfarin resistance. Inherited metabolic disorder VKORC1 [HSA:79001] [KO:K05357]
CYP2A6 [HSA:1548] [KO:K17683]
CYP2C9 [HSA:1559] [KO:K17719]
GGCX [HSA:2677] [KO:K10106]
H01216 Left ventricular noncompaction Left ventricular noncompaction (LVNC) is a rare and potentially progressive cardiomyopathy, characterized by the presence of prominent trabeculations of the left ventricle, associated with progressive ... Cardiovascular disease (LVNC1) DTNA [HSA:1837] [KO:K26998]
(LVNC3) LDB3 [HSA:11155] [KO:K19867]
(LVNC4) ACTC1 [HSA:70] [KO:K12314]
(LVNC5) MYH7 [HSA:4625] [KO:K17751]
(LVNC6) TNNT2 [HSA:7139] [KO:K12045]
(LVNC7) MIB1 [HSA:57534] [KO:K10645]
(LVNC8) PRDM16 [HSA:63976] [KO:K22410]
(LVNC9) TPM1 [HSA:7168] [KO:K10373]
(LVNC10) MYBPC3 [HSA:4607] [KO:K12568]
H01574 Familial idiopathic basal ganglia calcification
Bilateral striopallidodentate calcinosis (BSPDC)
Fahr disease 		Familial idiopathic basal ganglia calcification (IBGC), also known as Fahr disease, is an inherited neurological disorder characterized by symmetrical calcification of cerebral structures lacking known ... Nervous system disease (IBGC1) SLC20A2 [HSA:6575] [KO:K14640]
(IBGC4) PDGFRB [HSA:5159] [KO:K05089]
(IBGC5) PDGFB [HSA:5155] [KO:K17386]
(IBGC6) XPR1 [HSA:9213] [KO:K24195]
(IBGC7) MYORG [HSA:57462] [KO:K24727]
(IBGC8) JAM2 [HSA:58494] [KO:K06735]
(IBGC9) NAA60 [HSA:79903] [KO:K21121]
H01884 Auriculocondylar syndrome
Question mark ears syndrome 		Auriculocondylar syndrome (ACS) is a rare craniofacial malformation syndrome characterized by mandibular hypoplasia and question-mark ears (QME). QMEs, consisting of a specific defect at the lobe-helix ... Congenital malformation (ARCND1) GNAI3 [HSA:2773] [KO:K04630]
(ARCND2A/2B) PLCB4 [HSA:5332] [KO:K05858]
(ARCND3/QME) EDN1 [HSA:1906] [KO:K16366]
(ARCND4) HDAC9 [HSA:9734] [KO:K11409]
H01891 Autosomal recessive spinocerebellar ataxias Autosomal recessive cerebellar ataxias (SCAR) are a heterogeneous group of inherited neurodegenerative disorders that affect the cerebellum, the spinocerebellar and sensory tracts of the spinal cord and ... Neurodegenerative disease (SCAR1/SCAN2) SETX [HSA:23064] [KO:K10706]
(SCAR2) PMPCA [HSA:23203] [KO:K01412]
(SCAR4) VPS13D [HSA:55187] [KO:K19527]
(SCAR7) TPP1 [HSA:1200] [KO:K01279]
(SCAR8) SYNE1 [HSA:23345] [KO:K19326]
(SCAR9) COQ8A [HSA:56997] [KO:K08869]
(SCAR10) ANO10 [HSA:55129] [KO:K19327]
(SCAR11) SYT14 [HSA:255928] [KO:K19328]
(SCAR12) WWOX [HSA:51741] [KO:K19329]
(SCAR13) GRM1 [HSA:2911] [KO:K04603]
(SCAR14) SPTBN2 [HSA:6712] [KO:K23932]
(SCAR15) RUBCN [HSA:9711] [KO:K19330]
(SCAR16) STUB1 [HSA:10273] [KO:K09561]
(SCAR17) CWF19L1 [HSA:55280] [KO:K24939]
(SCAR18) GRID2 [HSA:2895] [KO:K05207]
(SCAR19) SLC9A1 [HSA:6548] [KO:K05742]
(SCAR20) SNX14 [HSA:57231] [KO:K17926]
(SCAR21) SCYL1 [HSA:57410] [KO:K08876]
(SCAR22) VWA3B [HSA:200403] [KO:K24509]
(SCAR23) TDP2 [HSA:51567] [KO:K19619]
(SCAR24) UBA5 [HSA:79876] [KO:K12164]
(SCAR25) ATG5 [HSA:9474] [KO:K08339]
(SCAR26) XRCC1 [HSA:7515] [KO:K10803]
(SCAR27) GDAP2 [HSA:54834] [KO:K24997]
(SCAR28) THG1L [HSA:54974] [KO:K10761]
(SCAR29) VPS41 [HSA:27072] [KO:K20184]
(SCAR30) PITRM1 [HSA:10531] [KO:K06972]
(SCAR31) ATG7 [HSA:10533] [KO:K08337]
(SCAR32) PRDX3 [HSA:10935] [KO:K20011]
(SCAR33) RNU12 [HSA:267010]
(SCAN1) TDP1 [HSA:55775] [KO:K10862]
(SCAN3) COA7 [HSA:65260] [KO:K18180]
H01914 Christianson syndrome Christianson syndrome (CS) is a rare, X-linked mental retardation syndrome, caused by mutations in SLC9A6. CS is characterized by severe intellectual disability, microcephaly, epilepsy, ataxia, and absent ... Congenital malformation SLC9A6 [HSA:10479] [KO:K12041]
H01959 Muscular dystrophy-dystroglycanopathy type C Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... Inherited metabolic disorder (MDDGC1) POMT1 [HSA:10585] [KO:K00728]
(MDDGC2) POMT2 [HSA:29954] [KO:K00728]
(MDDGC3) POMGNT1 [HSA:55624] [KO:K09666]
(MDDGC4) FKTN [HSA:2218] [KO:K19872]
(MDDGC5) FKRP [HSA:79147] [KO:K19873]
(MDDGC7) CRPPA [HSA:729920] [KO:K21031]
(MDDGC8) POMGNT2 [HSA:84892] [KO:K18207]
(MDDGC9) DAG1 [HSA:1605] [KO:K06265]
(MDDGC12) POMK [HSA:84197] [KO:K17547]
(MDDGC14) GMPPB [HSA:29925] [KO:K00966]
(MDDGC15) DPM3 [HSA:54344] [KO:K09659]
H02111 Autism
Autistic spectrum disorder
Pervasive developmental disorder 		Autism, also known as autistic spectrum disorder (ASD), is a common childhood onset neurodevelopmental disorder, characterised by severe deficits in socialisation, communication, and repetitive or unusual ... Mental and behavioural disorder (AUTS15) CNTNAP2 [HSA:26047] [KO:K07380]
(AUTS16) SLC9A9 [HSA:285195] [KO:K14725]
(AUTS17) SHANK2 [HSA:22941] [KO:K15009]
(AUTS18) CHD8 [HSA:57680] [KO:K04494]
(AUTS19) EIF4E [HSA:1977] [KO:K03259]
(AUTS20) NLGN1 [HSA:22871] [KO:K07378]
(AUTSX1) NLGN3 [HSA:54413] [KO:K07378]
(AUTSX2) NLGN4X [HSA:57502] [KO:K07378]
(AUTSX3) MECP2 [HSA:4204] [KO:K11588]
(AUTSX4) PTCHD1 [HSA:139411] [KO:K24682]
(AUTSX5) RPL10 [HSA:6134] [KO:K02866]
(AUTSX6) TMLHE [HSA:55217] [KO:K00474]
H02342 Frontotemporal dementia and amyotrophic lateral sclerosis ... are genetically heterogeneous disorders. Mutations in the several genes and a repeat expansion in the C9orf72 gene have been reported to be associated with both diseases (FTDALS). Genes linked to both diseases ... Nervous system disease (FTDALS1) C9orf72 [HSA:203228] [KO:K23609]
(FTDALS2) CHCHD10 [HSA:400916] [KO:K22759]
(FTDALS3) SQSTM1 [HSA:8878] [KO:K14381]
(FTDALS4) TBK1 [HSA:29110] [KO:K05410]
(FTDALS5) CCNF [HSA:899] [KO:K10289]
(FTDALS6) VCP [HSA:7415] [KO:K13525]
(FTDALS7) CHMP2B [HSA:25978] [KO:K12192]
(FTDALS8) CYLD [HSA:1540] [KO:K08601]
H02530 Hereditary prostate cancer Hereditary prostate cancer (HPC) has been used to characterize families with a particularly strong history of prostate cancer and includes those families with either: three or more affected first-degree ... Cancer (HPC1) RNASEL [HSA:6041] [KO:K01165]
(HPC2) ELAC2 [HSA:60528] [KO:K00784]
(HPC9) HOXB13 [HSA:10481] [KO:K09298]
(HPC12) EHBP1 [HSA:23301] [KO:K25572]
(HPC13) MSMB [HSA:4477] [KO:K25684]
H02536 Infection-induced acute encephalopathy Infection-induced acute encephalopathy (IIAE) is a severe neurologic complication of an infection that usually occurs in children. It is characterized by a high-grade fever, often leading to coma, multiple-organ ... Nervous system disease; Infectious disease (IIAE1) UNC93B1 [HSA:81622] [KO:K26150]
(IIAE2) TLR3 [HSA:7098] [KO:K05401]
(IIAE3) RANBP2 [HSA:5903] [KO:K12172]
(IIAE4) CPT2 [HSA:1376] [KO:K08766]
(IIAE5) TRAF3 [HSA:7187] [KO:K03174]
(IIAE6) TICAM1 [HSA:148022] [KO:K05842]
(IIAE7) IRF3 [HSA:3661] [KO:K05411]
(IIAE8) TBK1 [HSA:29110] [KO:K05410]
(IIAE9) NUP214 [HSA:8021] [KO:K14317]
(IIAE10) SNORA31 [HSA:677814] [KO:K26336]
(IIAE11) DBR1 [HSA:51163] [KO:K18328]
(IIAE12) RNH1 [HSA:6050] [KO:K16634]
H02714 Tessadori-Bicknell-van Haaften neurodevelopmental syndrome Tessadori-Bicknell-van Haaften neurodevelopmental syndrome (TEBIVANED) is a novel syndrome caused by missense mutations in H4 genes. This syndrome is characterized by intellectual disability, motor and ... Congenital malformation (TEBIVANED1) H4C3 [HSA:8364] [KO:K11254]
(TEBIVANED2) H4C11 [HSA:8363] [KO:K11254]
(TEBIVANED3) H4C5 [HSA:8367] [KO:K11254]
(TEBIVANED4) H4C9 [HSA:8294] [KO:K11254]
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