Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5917
Gene Symbol: RARS1
RARS1 		0.400 Biomarker phenotype GENOMICS_ENGLAND Mutations in RARS cause hypomyelination. 24777941 2014
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		0.400 Biomarker phenotype GENOMICS_ENGLAND Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. 24697911 2014
Entrez Id: 4935
Gene Symbol: GPR143
GPR143 		0.400 Biomarker phenotype GENOMICS_ENGLAND These results suggest that this novel mutation is associated with the congenital nystagmus observed in this Chinese family and further support that GPR143 mutations are the underlying pathogenesis of the molecular mechanism for congenital nystagmus. 19390656 2009