Search Result

 Top
1 to 1 of 1
Entry Name Description Category Pathway Gene
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]
1 to 1 of 1
[ KEGG | DISEASE | DRUG | MEDICUS ]