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Entry Name Description Category Pathway Gene
H00093 Combined immunodeficiency The term combined immunodeficiency (CID) is used to distinguish patients with low, but not absent, T-cell function from those with severe CID (SCID) characterized by profound deficiencies of T- and B-cell ... Primary immunodeficiency CD40LG (TNFSF5) [HSA:959] [KO:K03161]
CD40 [HSA:958] [KO:K03160]
PNP [HSA:4860] [KO:K03783]
CD8A [HSA:925] [KO:K06458]
(IMD6) IL2RG [HSA:3561] [KO:K05070]
(IMD9) ORAI1 [HSA:84876] [KO:K16056]
(IMD10) STIM1 [HSA:6786] [KO:K16059]
(IMD11) CARD11 [HSA:84433] [KO:K07367]
(IMD12) MALT1 [HSA:10892] [KO:K07369]
(IMD15) IKBKB [HSA:3551] [KO:K07209]
(IMD16) TNFRSF4 [HSA:7293] [KO:K05142]
(IMD17) CD3G [HSA:917] [KO:K06452]
(IMD22) LCK [HSA:3932] [KO:K05856]
(IMD24) CTPS1 [HSA:1503] [KO:K01937]
(IMD37) BCL10 [HSA:8915] [KO:K07368]
(IMD40) DOCK2 [HSA:1794] [KO:K12367]
(IMD48) ZAP70 [HSA:7535] [KO:K07360]
(IMD50) MSN [HSA:4478] [KO:K05763]
(IMD55) GINS1 [HSA:9837] [KO:K10732]
(IMD59) HYOU1 [HSA:10525] [KO:K09486]
(IMD85) TOM1 [HSA:10043] [KO:K26401]
(IMD97) PIK3CG [HSA:5294] [KO:K21289]
(IMD110) STK4 [HSA:6789] [KO:K04411]
(IMD112) MAP3K14 [HSA:9020] [KO:K04466]
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]
H00537 Nephronophthisis Nephronophthisis (NPH) is an inherited disorder characterized by many features including irregular tubular basement membrane, tubular cyst formation, and interstitial cell infiltration with fibrosis. The ... Congenital malformation (NPHP1) NPHP1 [HSA:4867] [KO:K19657]
(NPHP2) INVS [HSA:27130] [KO:K19626]
(NPHP3) NPHP3 [HSA:27031] [KO:K19360]
(NPHP4) NPHP4 [HSA:261734] [KO:K16478]
(NPHP5) IQCB1 [HSA:9657] [KO:K16774]
(NPHP6) CEP290 [HSA:80184] [KO:K16533]
(NPHP7) GLIS2 [HSA:84662] [KO:K09233]
(NPHP9) NEK8 [HSA:284086] [KO:K20877]
(NPHP10) SDCCAG8 [HSA:10806] [KO:K16488]
(NPHP11) TMEM67 [HSA:91147] [KO:K19348]
(NPHP12) TTC21B [HSA:79809] [KO:K19673]
(NPHP13) WDR19 [HSA:57728] [KO:K19671]
(NPHP14) ZNF423 [HSA:23090] [KO:K22870]
(NPHP15) CEP164 [HSA:22897] [KO:K16462]
(NPHP16) ANKS6 [HSA:203286] [KO:K21415]
(NPHP18) CEP83 [HSA:51134] [KO:K16754]
(NPHP19) DCDC2 [HSA:51473] [KO:K23405]
(NPHP20) MAPKBP1 [HSA:23005] [KO:K21763]
(NPHPL1) XPNPEP3 [HSA:63929] [KO:K01262]
(NPHPL2) SLC41A1 [HSA:254428] [KO:K15122]
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]
H00734 Autosomal recessive congenital ichthyosis Autosomal recessive congenital ichthyoses comprise a heterogeneous group of skin disorders of hyperkeratosis. Two non-syndromic forms are defined including lamellar ichthyosis (LI) and non-bullous congenital ... Congenital malformation (ARCI1/ LI1) TGM1 [HSA:7051] [KO:K05619]
(ARCI2/ NBCIE) ALOX12B [HSA:242] [KO:K08021]
(ARCI3/ LI5) ALOXE3 [HSA:59344] [KO:K18684]
(ARCI4/ LI2) ABCA12 [HSA:26154] [KO:K05646]
(ARCI5/ LI3) CYP4F22 [HSA:126410] [KO:K17731]
(ARCI6) NIPAL4 [HSA:348938] [KO:K22733]
(ARCI8/ LI4) LIPN [HSA:643418] [KO:K24210]
(ARCI9) CERS3 [HSA:204219] [KO:K24622]
(ARCI10) PNPLA1 [HSA:285848] [KO:K16813]
(ARCI11) ST14 [HSA:6768] [KO:K08670]
(ARCI12) CASP14 [HSA:23581] [KO:K04401]
(ARCI13) SDR9C7 [HSA:121214] [KO:K24425]
(ARCI14) SULT2B1 [HSA:6820] [KO:K01015]
H00891 Combined oxidative phosphorylation deficiency Combined oxidative phosphorylation deficiency (COXPD) is a group of multisystem disorders with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation system. It ... Inherited metabolic disorder, Mitochondrial disease (COXPD1) GFM1 [HSA:85476] [KO:K02355]
(COXPD2) MRPS16 [HSA:51021] [KO:K02959]
(COXPD3) TSFM [HSA:10102] [KO:K02357]
(COXPD4) TUFM [HSA:7284] [KO:K02358]
(COXPD5) MRPS22 [HSA:56945] [KO:K17401]
(COXPD6) AIFM1 [HSA:9131] [KO:K04727]
(COXPD7) MTRFR [HSA:91574] [KO:K23498]
(COXPD8) AARS2 [HSA:57505] [KO:K01872]
(COXPD9) MRPL3 [HSA:11222] [KO:K02906]
(COXPD10) MTO1 [HSA:25821] [KO:K03495]
(COXPD11) RMND1 [HSA:55005] [KO:K23499]
(COXPD12) EARS2 [HSA:124454] [KO:K01885]
(COXPD13) PNPT1 [HSA:87178] [KO:K00962]
(COXPD14) FARS2 [HSA:10667] [KO:K01889]
(COXPD15) MTFMT [HSA:123263] [KO:K00604]
(COXPD16) MRPL44 [HSA:65080] [KO:K17425]
(COXPD17) ELAC2 [HSA:60528] [KO:K00784]
(COXPD18) SFXN4 [HSA:119559] [KO:K23502]
(COXPD19) LYRM4 [HSA:57128] [KO:K22069]
(COXPD20) VARS2 [HSA:57176] [KO:K01873]
(COXPD21) TARS2 [HSA:80222] [KO:K01868]
(COXPD22) ATP5F1A [HSA:498] [KO:K02132]
(COXPD23) GTPBP3 [HSA:84705] [KO:K03650]
(COXPD24) NARS2 [HSA:79731] [KO:K01893]
(COXPD25) MARS2 [HSA:92935] [KO:K01874]
(COXPD26) TRMT5 [HSA:57570] [KO:K15429]
(COXPD27) CARS2 [HSA:79587] [KO:K01883]
(COXPD28) SLC25A26 [HSA:115286] [KO:K15111]
(COXPD29) TXN2 [HSA:25828] [KO:K03671]
(COXPD30) TRMT10C [HSA:54931] [KO:K17654]
(COXPD31) MIPEP [HSA:4285] [KO:K01410]
(COXPD32) MRPS34 [HSA:65993] [KO:K17412]
(COXPD33) C1QBP [HSA:708] [KO:K15414]
(COXPD34) MRPS7 [HSA:51081] [KO:K02992]
(COXPD35) TRIT1 [HSA:54802] [KO:K00791]
(COXPD36) MRPS2 [HSA:51116] [KO:K02967]
(COXPD37) MICOS13 [HSA:125988] [KO:K24624]
(COXPD38) MRPS14 [HSA:63931] [KO:K02954]
(COXPD39) GFM2 [HSA:84340] [KO:K02355]
(COXPD40) QRSL1 [HSA:55278] [KO:K02433]
(COXPD41) GATB [HSA:5188] [KO:K02434]
(COXPD42) GATC [HSA:283459] [KO:K02435]
(COXPD43) TIMM22 [HSA:29928] [KO:K17790]
(COXPD44) FASTKD2 [HSA:22868] [KO:K18190]
(COXPD45) MRPL12 [HSA:6182] [KO:K02935]
(COXPD46) MRPS23 [HSA:51649] [KO:K17402]
(COXPD47) MRPS28 [HSA:28957] [KO:K17407]
(COXPD48) NSUN3 [HSA:63899] [KO:K21969]
(COXPD49) MIEF2 [HSA:125170] [KO:K23507]
(COXPD50) MRPS25 [HSA:64432] [KO:K17404]
(COXPD51) PTCD3 [HSA:55037] [KO:K17659]
(COXPD52) NFS1 [HSA:9054] [KO:K04487]
(COXPD53) C2orf69 [HSA:205327]
(COXPD54) PRORP [HSA:9692] [KO:K17655]
(COXPD55) POLRMT [HSA:5442] [KO:K10908]
(COXPD56) TAMM41 [HSA:132001] [KO:K17807]
(COXPD57) CRLS1 [HSA:54675] [KO:K08744]
(COXPD58) TEFM [HSA:79736] [KO:K17658]
(COXPD59) MRPL39 [HSA:54148] [KO:K17420]
H01124 Pyridoxamine-5'-phosphate oxidase (PNPO) deficiency Pyridoxamine-5'-phosphate oxidase (PNPO) deficiency is a rare autosomal recessive disorder that causes intractable seizures that are not responsive to anticonvulsant drugs and pyridoxine. Patients with ... Nervous system disease PNPO [HSA:55163] [KO:K00275]
H01297 Neutral lipid storage disease with myopathy ... cytoplasmic droplets. Neutral lipid storage disease with myopathy is the subgroup of NLSDM, characterized by mild myopathy, absence of ichthyosis and mutations in adipose triglyceride lipase (PNPLA2). Inherited metabolic disorder PNPLA2 [HSA:57104] [KO:K16816]
H01898 PNPLA6-related disorders PNPLA6-related disorders have been implicated in a broad spectrum of neurodegenerative disorders. The phenotypic spectrum includes at least four clinical key features: ataxia, motor neuron disease (upper ... Nervous system disease PNPLA6 [HSA:10908] [KO:K14676]
H02137 Laurence-Moon syndrome Laurence-Moon syndrome is caused by mutations in the PNPLA6 gene, encoding neuropathy target esterase (NTE). It is characterised by chorioretinopathy, pituitary dysfunction, childhood onset of ataxia, ... Nervous system disease PNPLA6 [HSA:10908] [KO:K14676]
H02140 Boucher-Neuhauser syndrome ... Gait ataxia in BNS has been typically reported between the first and third decades of life; later ages of onset are rare. BNS has recently been linked to autosomal-recessive mutations in the PNPLA6 gene. Nervous system disease PNPLA6 [HSA:10908] [KO:K14676]
H02201 Mitochondrial myopathy with lactic acidosis ... with chronic lactic acidemia, growth failure, and nerve deafness. It has been reported that loss of function mutations in PNPLA8 encoding calcium-independent phospholipase A2 gamma cause this disease. Inherited metabolic disorder PNPLA8 [HSA:50640] [KO:K16815]
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