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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00679 |
Hypomyelinating leukodystrophy Pelizaeus-Merzbacher disease (PMD) |
Hypomyelinating leukodystrophies (HMLs) are disorders involving aberrant myelin formation in the central nervous system. They are clinically characterized by early onset nystagmus, impaired motor development ... | 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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H00831 | Primary dystonia | Dystonias are a heterogeneous group of hyperkinetic movement disorders characterized by involuntary sustained muscle contractions that lead to abnormal postures and repetitive movements. Presently, 30 ... | Nervous system disease |
(DYT1) TOR1A [HSA:1861] [KO:K22990] (DYT2) HPCA [HSA:3208] [KO:K23846] (DYT3) TAF1 [HSA:6872] [KO:K03125] (DYT4) TUBB4A [HSA:10382] [KO:K07375] (DYT5) GCH1 [HSA:2643] [KO:K01495] (DYT6) THAP1 [HSA:55145] [KO:K23203] (DYT8) PNKD [HSA:25953] [KO:K23864] (DYT9) SLC2A1 [HSA:6513] [KO:K07299] (DYT10/EKD1) PRRT2 [HSA:112476] [KO:K23897] (DYT11) SGCE [HSA:8910] [KO:K27061] (DYT12) ATP1A3 [HSA:478] [KO:K01539] (DYT16) PRKRA [HSA:8575] [KO:K24540] (DYT22JO/AO) TSPOAP1 [HSA:9256] [KO:K19922] (DYT24) ANO3 [HSA:63982] [KO:K19498] (DYT25) GNAL [HSA:2774] [KO:K04633] (DYT26) KCTD17 [HSA:79734] [KO:K21914] (DYT27) COL6A3 [HSA:1293] [KO:K06238] (DYT28) KMT2B [HSA:9757] [KO:K14959] (DYT29/DYTOABG) MECR [HSA:51102] [KO:K07512] (DYT30) VPS16 [HSA:64601] [KO:K20180] (DYT31) AOPEP [HSA:84909] [KO:K09606] (DYT32) VPS11 [HSA:55823] [KO:K20179] (DYT33) EIF2AK2 [HSA:5610] [KO:K16195] (DYT34) KCNN2 [HSA:3781] [KO:K04943] (DYT35) SHQ1 [HSA:55164] [KO:K14764] (DYT36/EKD3) TMEM151A [HSA:256472] (DYT37) NUP54 [HSA:53371] [KO:K14308] |
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