Disease: Dwarfism ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dwarfism
CUI: C0013336
Disease: Dwarfism
0.010 GeneticVariation BEFREE These results indicate that the D112G mutation in the GH-1 gene causes production of bioinactive GH, which prevents dimerization of GHR and is therefore responsible for the patient's short stature. 9276733 1997