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Entry Name Description Category Pathway Gene
H00833 Neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation (NBIA) is a group of progressive extrapyramidal and cognitive disorders characterized by iron accumulation predominantly in the globus pallidus, as well as ... Nervous system disease (NBIA1) PANK2 [HSA:80025] [KO:K09680]
(NBIA2A, NBIA2B) PLA2G6 [HSA:8398] [KO:K16343]
(NBIA3) FTL [HSA:2512] [KO:K13625]
(NBIA4) C19orf12 [HSA:83636] [KO:K23168]
(NBIA5) WDR45 [HSA:11152] [KO:K22991]
(NBIA6) COASY [HSA:80347] [KO:K02318]
(NBIA7) REPS1 [HSA:85021] [KO:K20068]
(NBIA8) CRAT [HSA:1384] [KO:K00624]
(NBIA9) FTH1 [HSA:2495] [KO:K00522]
H02470 Neurodevelopmental disorder with structural brain abnormalities Neurodevelopmental disorder (NED) with structural brain abnormalities is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying ... Congenital malformation (NDAGSCW) RAB11B [HSA:9230] [KO:K07905]
(NEDBAVC) DHX37 [HSA:57647] [KO:K14780]
(NEDCHS) INTS8 [HSA:55656] [KO:K13145]
(NEDCAS) BRAT1 [HSA:221927] [KO:K23112]
(NEDEHCC) LNPK [HSA:80856] [KO:K23292]
(NEDBAS) DLL1 [HSA:28514] [KO:K06051]
(NEDSBAS) WDR45B [HSA:56270] [KO:K22991]
(NEDSWMA) HPDL [HSA:84842] [KO:K24788]
(NEDVIBA) HK1 [HSA:3098] [KO:K00844]
(NEDBA) MAPK8IP3 [HSA:23162] [KO:K04436]
(NECFM) NACC1 [HSA:112939] [KO:K10486]
(NEDMHM) ARHGEF2 [HSA:9181] [KO:K12791]
(NEDBASS) PTPN23 [HSA:25930] [KO:K18040]
(NEDABA) ODC1 [HSA:4953] [KO:K01581]
(NEDESBA) TRAPPC4 [HSA:51399] [KO:K20303]
(NEDASB) NOVA2 [HSA:4858] [KO:K14944]
(NEDCAM) GEMIN5 [HSA:25929] [KO:K13133]
(NEDSCAC) MED27 [HSA:9442] [KO:K15170]
(NEDCASB) SHMT2 [HSA:6472] [KO:K00600]
(NEDHSB) SPATA5 [HSA:166378] [KO:K14575]
(NEDMLHB) TAF8 [HSA:129685] [KO:K14649]
(NEDSSBA) NSRP1 [HSA:84081] [KO:K13206]
(NEDMLOB) INTS11 [HSA:54973] [KO:K13148]
(NEDMSB) PI4K2A [HSA:55361] [KO:K13711]
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