Hypomyelinating leukodystrophy

Disease Term Disease ID Gene Symbol Classification References Source
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 C1850053 AIMP1 Causal Pathogenic evidence from ClinVar 21092922, 26173967, 26257172, 30486714 ClinVar
LEUKODYSTROPHY, HYPOMYELINATING, 17 C4693912 AIMP2 Causal Pathogenic evidence from ClinVar 26795593, 29215095 ClinVar
LEUKODYSTROPHY, HYPOMYELINATING, 15 C4693733 EPRS1 Causal Pathogenic evidence from ClinVar 29576217 ClinVar
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy 495844 HIKESHI Causal Pathogenic evidence from ClinVar - ClinVar
Pelizaeus-Merzbacher Disease, Atypical C0751915 PLP1 Causal Pathogenic evidence from ClinVar 18571143 ClinVar
LMNB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Pelizaeus-Merzbacher Disease, Transitional C0751917 PLP1 Causal Pathogenic evidence from ClinVar 18571143 ClinVar
LMNB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RARS-related autosomal recessive hypomyelinating leukodystrophy 438114 RARS1 Causal Pathogenic evidence from ClinVar - ClinVar
LEUKODYSTROPHY, HYPOMYELINATING, 16 C4693779 TMEM106B Causal Pathogenic evidence from ClinVar 29186371, 29444210 ClinVar
LEUKODYSTROPHY, HYPOMYELINATING, 14 C4693535 UFM1 Causal Pathogenic evidence from ClinVar 28931644, 29868776, 30914295 ClinVar
VPS11-related autosomal recessive hypomyelinating leukodystrophy 466934 VPS11 Causal Pathogenic evidence from ClinVar - ClinVar
NKX6-2-related autosomal recessive hypomyelinating leukodystrophy 527497 NKX6-2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -