B3GLCT, beta 3-glucosyltransferase, 145173

N. diseases: 157; N. variants: 11
Disease: Brachydactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.110 GeneticVariation disease BEFREE Peters plus syndrome (MIM #261540 PTRPLS), characterized by defects in eye development, prominent forehead, hypertelorism, short stature, and brachydactyly, is caused by mutations in the β3-glucosyltransferase (B3GLCT) gene. 31600785 2019
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.110 Biomarker disease HPO