Search Result

 Top
1 to 2 of 2
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 (CDG1A) PMM2 [HSA:5373] [KO:K17497]
(CDG1B) MPI [HSA:4351] [KO:K01809]
(CDG1C) ALG6 [HSA:29929] [KO:K03848]
(CDG1D) ALG3 [HSA:10195] [KO:K03845]
(CDG1E) DPM1 [HSA:8813] [KO:K00721]
(CDG1F) MPDU1 [HSA:9526] [KO:K09660]
(CDG1G) ALG12 [HSA:79087] [KO:K03847]
(CDG1H) ALG8 [HSA:79053] [KO:K03849]
(CDG1I) ALG2 [HSA:85365] [KO:K03843]
(CDG1J) DPAGT1 [HSA:1798] [KO:K01001]
(CDG1K) ALG1 [HSA:56052] [KO:K03842]
(CDG1L) ALG9 [HSA:79796] [KO:K03846]
(CDG1M) DOLK [HSA:22845] [KO:K00902]
(CDG1N) RFT1 [HSA:91869] [KO:K06316]
(CDG1O) DPM3 [HSA:54344] [KO:K09659]
(CDG1P) ALG11 [HSA:440138] [KO:K03844]
(CDG1Q) SRD5A3 [HSA:79644] [KO:K12345]
(CDG1R) DDOST [HSA:1650] [KO:K12670]
(CDG1S) ALG13 [HSA:79868] [KO:K07432]
(CDG1T) PGM1 [HSA:5236] [KO:K01835]
(CDG1U) DPM2 [HSA:8818] [KO:K09658]
(CDG1WAR) STT3A [HSA:3703] [KO:K07151]
(CDG1X) STT3B [HSA:201595] [KO:K07151]
(CDG1Y) SSR4 [HSA:6748] [KO:K04571]
(CDG1AA) NUS1 [HSA:116150] [KO:K19177]
(CDG1BB) DHDDS [HSA:79947] [KO:K11778]
(CDG1CC) MAGT1 [HSA:84061] [KO:K19478]
(CDG1DD) DHRSX [HSA:207063] [KO:K11170]
(CDG1EE) MAN2B2 [HSA:23324] [KO:K12312]
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]
(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]
1 to 2 of 2
[ KEGG | DISEASE | DRUG | MEDICUS ]