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Entry Name Description Category Pathway Gene
H00118 Congenital disorders of glycosylation type I Congenital disorders of glycosylation (CDG) are a group of disorders caused by defects in various genes for N-glycan biosynthesis. CDG type I is defined by mutations in genes encoding enzymes which involves ... Inherited metabolic disorder (CDG-Ia) PMM2 [HSA:5373] [KO:K17497]
(CDG-Ib) MPI [HSA:4351] [KO:K01809]
(CDG-Ic) ALG6 [HSA:29929] [KO:K03848]
(CDG-Id) ALG3 [HSA:10195] [KO:K03845]
(CDG-Ie) DPM1 [HSA:8813] [KO:K00721]
(CDG-If) MPDU1 [HSA:9526] [KO:K09660]
(CDG-Ig) ALG12 [HSA:79087] [KO:K03847]
(CDG-Ih) ALG8 [HSA:79053] [KO:K03849]
(CDG-Ii) ALG2 [HSA:85365] [KO:K03843]
(CDG-Ij) DPAGT1, ALG7 [HSA:1798] [KO:K01001]
(CDG-Ik) ALG1 [HSA:56052] [KO:K03842]
(CDG-IL) ALG9 [HSA:79796] [KO:K03846]
(CDG-Im) DOLK [HSA:22845] [KO:K00902]
(CDG-In) RFT1 [HSA:91869] [KO:K06316]
(CDG-Io) DPM3 [HSA:54344] [KO:K09659]
(CDG-Ip) ALG11 [HSA:440138] [KO:K03844]
(CDG-Iq) SRD5A3 [HSA:79644] [KO:K12345]
(CDG-Ir) DDOST [HSA:1650] [KO:K12670]
(CDG-Is) ALG13 [HSA:79868] [KO:K07432]
(CDG-It) PGM1 [HSA:5236] [KO:K01835]
(CDG-Iu) DPM2 [HSA:8818] [KO:K09658]
(CDG-Iv) NGLY1 [HSA:55768] [KO:K01456]
(CDG-Iw) STT3A [HSA:3703] [KO:K07151]
(CDG-Ix) STT3B [HSA:201595] [KO:K07151]
(CDG-Iy) SSR4 [HSA:6748] [KO:K04571]
(CDG-Iaa) NUS1 [HSA:116150] [KO:K19177]
(CDG-Ibb) DHDDS [HSA:79947] [KO:K11778]
(CDG-Icc) MAGT1 [HSA:84061] [KO:K19478]
H00575 Renal tubular dysgenesis Autosomal recessive renal tubular dysgenesis (RTD) is a rare lethal disorder characterized by the absence or incomplete differentiation of proximal tubules. Patients present persistent fetal anuria leading ... Congenital malformation REN [HSA:5972] [KO:K01380]
AGT [HSA:183] [KO:K09821]
ACE [HSA:1636] [KO:K01283]
AGTR1 [HSA:185] [KO:K04166]
H00770 Congenital myasthenic syndrome Congenital myasthenic syndromes (CMS) are a heterogenous group of genetic disorders caused by mutations in several proteins that compose the neuromuscular junction (NMJ) apparatus on which synaptic formation ... Nervous system disease (CMS1A/1B) CHRNA1 [HSA:1134] [KO:K04803]
(CMS2A/2C) CHRNB1 [HSA:1140] [KO:K04812]
(CMS3A/3B/3C) CHRND [HSA:1144] [KO:K04816]
(CMS4A/4B/4C) CHRNE [HSA:1145] [KO:K04817]
(CMS5) COLQ [HSA:8292] [KO:K26586]
(CMS6) CHAT [HSA:1103] [KO:K00623]
(CMS7A/7B) SYT2 [HSA:127833] [KO:K19902]
(CMS8) AGRN [HSA:375790] [KO:K06254]
(CMS9) MUSK [HSA:4593] [KO:K05129]
(CMS10) DOK7 [HSA:285489] [KO:K24038]
(CMS11) RAPSN [HSA:5913] [KO:K24924]
(CMS12) GFPT1 [HSA:2673] [KO:K00820]
(CMS13) DPAGT1 [HSA:1798] [KO:K01001]
(CMS14) ALG2 [HSA:85365] [KO:K03843]
(CMS15) ALG14 [HSA:199857] [KO:K07441]
(CMS16) SCN4A [HSA:6329] [KO:K04837]
(CMS17) LRP4 [HSA:4038] [KO:K20051]
(CMS18) SNAP25 [HSA:6616] [KO:K18211]
(CMS19) COL13A1 [HSA:1305] [KO:K16617]
(CMS20) SLC5A7 [HSA:60482] [KO:K14387]
(CMS21) SLC18A3 [HSA:6572] [KO:K14636]
(CMS22) PREPL [HSA:9581] [KO:K22582]
(CMS23) SLC25A1 [HSA:6576] [KO:K15100]
(CMS24) MYO9A [HSA:4649] [KO:K10360]
(CMS25) VAMP1 [HSA:6843] [KO:K08510]
H01633 High blood pressure
Hypertension 		High blood pressure (hypertension) is the most frequent classic cardiovascular risk factor and accounts for a large proportion of cardiovascular mortality, the main cause of death worldwide. Hypertension ... Cardiovascular disease (EHT) PTGIS [HSA:5740] [KO:K01831]
(EHT) AGTR1 [HSA:185] [KO:K04166]
(EHT) ADD1 [HSA:118] [KO:K18622]
(EHT) AGT [HSA:183] [KO:K09821]
(EHT) ECE1 [HSA:1889] [KO:K01415]
(EHT) CYP3A5 [HSA:1577] [KO:K17690]
(EHT) NOS3 [HSA:4846] [KO:K13242]
(EHT) GNB3 [HSA:2784] [KO:K07825]
NR3C2 [HSA:4306] [KO:K08555]
(GRA) CYP11B2 [HSA:1585] [KO:K07433]
(GRA) CYP11B1 [HSA:1584] [KO:K00497]
(AME) HSD11B2 [HSA:3291] [KO:K00071]
(LIDLS) SCNN1B [HSA:6338] [KO:K04825]
(LIDLS) SCNN1G [HSA:6340] [KO:K04827]
(LIDLS) SCNN1A [HSA:6337] [KO:K04824]
H02738 Childhood-onset neurodegeneration with cerebellar atrophy ... cerebellar atrophy (CONDCA) is a lower motor neuron disorder due to biallelic loss-of-function mutations in AGTPBP1. Patients generally presented with muscular hypotonia, global developmental delays, and cerebellar ... Nervous system disease (CONDCA) AGTPBP1 [HSA:23287] [KO:K23435]
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