Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs748318386
rs748318386
Entrez Id: 549
Gene Symbol: AUH
AUH
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. 20855850 2010
dbSNP: rs748318386
rs748318386
Entrez Id: 549
Gene Symbol: AUH
AUH
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I. 16354225 2005
dbSNP: rs748318386
rs748318386
Entrez Id: 549
Gene Symbol: AUH
AUH
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR 3-methylglutaconic aciduria type I in a boy with fever-associated seizures. 15033206 2004
dbSNP: rs748318386
rs748318386
Entrez Id: 549
Gene Symbol: AUH
AUH
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. 12655555 2003