rs121909356, GDF6

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MICROPHTHALMIA, ISOLATED 4 (disorder)
CUI: C2751307
Disease: MICROPHTHALMIA, ISOLATED 4 (disorder)
0.800 GeneticVariation UNIPROT Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 24033328 2014
MICROPHTHALMIA, ISOLATED 4 (disorder)
CUI: C2751307
Disease: MICROPHTHALMIA, ISOLATED 4 (disorder)
0.800 GeneticVariation UNIPROT Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. 19129173 2009
MICROPHTHALMIA, ISOLATED 4 (disorder)
CUI: C2751307
Disease: MICROPHTHALMIA, ISOLATED 4 (disorder)
0.800 CausalMutation CLINVAR