Metachromatic leukodystrophy

Disease Term Disease ID Gene Symbol Classification References Source
Leukodystrophy, Metachromatic C0023522 ARSA Causal Pathogenic evidence from ClinVar 1284530, 1353340, 1670590, 1673291, 1678251, 1684088, 1975241, 2574462, 7581401, 7649558, 7815434, 7825603, 7860068, 7866401, 7902317, 7906588, 7909527, 8095918, 8101038, 8101083, 8104633, 8455580, 8723680, 8891236, 8962139, 8982952, 9090526, 9096767, 9192271, 9272717, 9452102, 9490297, 9600244, 9819708, 10220151, 10381328, 10459747, 10477432, 10533072, 10751093, 11013459, 11020646, 11061266, 11456299, 11777924, 11941485, 12035837, 12081727, 12086582, 12445909, 12503099, 12788103, 12809637, 12809638, 14517960, 14680985, 15026521, 15139291, 15326627, 15375602, 15710861, 15720392, 15952986, 16546179, 16678723, 16966551, 17438611, 17560502, 18693274, 18786133, 19021637, 19606494, 19815439, 20339381, 20646068, 20890085, 21167507, 21265945, 22216298, 22993277, 23208745, 23559313, 23581857, 23701968, 24001781, 24357685, 24816252, 25965562, 26131420, 26462614, 26553228, 26890752, 27261095, 27374302, 28667691, 28670130, 28762252, 30057904 ClinVar
ARSB Causal Pathogenic evidence from ClinVar 1550123, 8116615, 8723688, 16435196, 17458871, 21514195, 23557332 ClinVar
Metachromatic leukodystrophy, adult form 309271 ARSA Causal Pathogenic evidence from ClinVar - ClinVar
PSAP Causal Pathogenic evidence from ClinVar - ClinVar
Metachromatic Leukodystrophy, Adult-Type (disorder) C0751279 ARSA Causal Pathogenic evidence from ClinVar - ClinVar
PSAP Causal Pathogenic evidence from ClinVar 24478108 ClinVar
Metachromatic Leukodystrophy, Infant C0751278 ARSA Causal Pathogenic evidence from ClinVar - ClinVar
PSAP Causal Pathogenic evidence from ClinVar 24478108 ClinVar
Metachromatic leukodystrophy, juvenile form 309263 ARSA Causal Pathogenic evidence from ClinVar - ClinVar
PSAP Causal Pathogenic evidence from ClinVar - ClinVar
Metachromatic leukodystrophy, juvenile type C0751276 ARSA Causal Pathogenic evidence from ClinVar - ClinVar
PSAP Causal Pathogenic evidence from ClinVar 24478108 ClinVar
Metachromatic leukodystrophy, late infantile form 309256 ARSA Causal Pathogenic evidence from ClinVar - ClinVar
PSAP Causal Pathogenic evidence from ClinVar - ClinVar
Metachromatic leukodystrophy variant C4024961 ERCC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -