Leukoencephalopathy with vanishing white matter

Disease Term Disease ID Gene Symbol Classification References Source
Childhood Ataxia with Central Nervous System Hypomyelinization C1858991 EIF2B1 Causal Pathogenic evidence from ClinVar 11835386, 15136673, 15776425, 16807905, 24357685, 25761052 ClinVar
EIF2B2 Causal Pathogenic evidence from ClinVar 11704758, 12707859, 14566705, 15060152, 15136673, 15776425, 18263758, 21484434, 21560189, 22285377, 22430157, 22678813, 22729508, 24357685, 25655951, 27159321, 28597716 ClinVar
EIF2B3 Causal Pathogenic evidence from ClinVar 11835386, 15136673, 19158808, 21484434, 24357685, 25079571, 25761052, 28597716 ClinVar
EIF2B4 Causal Pathogenic evidence from ClinVar 11835386, 12707859, 15136673, 15776425, 24357685, 25089094, 26043506, 30073106 ClinVar
EIF2B5 Causal Pathogenic evidence from ClinVar 11704758, 12325082, 12707859, 15060152, 15136673, 15776425, 19158808, 20975056, 21484434, 21560189, 22699478, 22952606, 24357685, 24938145 ClinVar
COL4A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20385946 -
CSF1R Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22197934 -
DPYD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11148247 -
MTHFR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15753437 -
MTR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15753437 -
RHOA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 31570889 -
SCP2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16685654 -
SPP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11868353 -
TCN2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15753437 -