Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation CLINVAR Mutations in RARS cause hypomyelination. 24777941

2014
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation CLINVAR Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease. 28905880

2017