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Entry Name Description Category Pathway Gene
H00679 Hypomyelinating leukodystrophy
Pelizaeus-Merzbacher disease (PMD) 		... clinically similar to classical PMD but is not associated with PLP1 mutations. PMLD appears to be inherited in an autosomal recessive manner and mutations have been identified in GJC2, AIMP1, HSPD1 and so on. Inherited metabolic disorder (HLD1/PMD) PLP1 [HSA:5354] [KO:K17271]
(HLD2) GJC2 [HSA:57165] [KO:K07619]
(HLD3) AIMP1 [HSA:9255] [KO:K15437]
(HLD4) HSPD1 [HSA:3329] [KO:K04077]
(HLD5) FAM126A [HSA:84668] [KO:K21844]
(HLD6) TUBB4A [HSA:10382] [KO:K07375]
(HLD7) POLR3A [HSA:11128] [KO:K03018]
(HLD8) POLR3B [HSA:55703] [KO:K03021]
(HLD9) RARS1 [HSA:5917] [KO:K01887]
(HLD10) PYCR2 [HSA:29920] [KO:K00286]
(HLD11) POLR1C [HSA:9533] [KO:K03027]
(HLD12) VPS11 [HSA:55823] [KO:K20179]
(HLD13) HIKESHI [HSA:51501] [KO:K23327]
(HLD14) UFM1 [HSA:51569] [KO:K12162]
(HLD15) EPRS1 [HSA:2058] [KO:K14163]
(HLD16) TMEM106B [HSA:54664] [KO:K25048]
(HLD17) AIMP2 [HSA:7965] [KO:K15438]
(HLD18) DEGS1 [HSA:8560] [KO:K04712]
(HLD19) TMEM63A [HSA:9725] [KO:K21989]
(HLD20) CNP [HSA:1267] [KO:K01121]
(HLD21) POLR3K [HSA:51728] [KO:K03019]
(HLD22) CLDN11 [HSA:5010] [KO:K06087]
(HLD23) RNF220 [HSA:55182] [KO:K25174]
(HLD24) ATP11A [HSA:23250] [KO:K26934]
(HLD25) TMEM163 [HSA:81615] [KO:K14694]
(HLD26) SLC35B2 [HSA:347734] [KO:K15276]
(HLD27) POLR1A [HSA:25885] [KO:K02999]
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