GDF3, growth differentiation factor 3, 9573

N. diseases: 74; N. variants: 4
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906946
rs387906946
Entrez Id: 9573
Gene Symbol: GDF3
GDF3
CUI: C3150968
Disease:
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 		0.800 GeneticVariation UNIPROT Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 19864492 2010
dbSNP: rs387906946
rs387906946
Entrez Id: 9573
Gene Symbol: GDF3
GDF3
CUI: C3150968
Disease:
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 		A 0.800 CausalMutation CLINVAR