rs864309487, GMNN

N. diseases: 20
Disease: EAR, PATELLA, SHORT STATURE SYNDROME ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EAR, PATELLA, SHORT STATURE SYNDROME
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015