GCK, glucokinase, 2645

N. diseases: 210; N. variants: 182
Disease: Greig cephalopolysyndactyly syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		0.010 GeneticVariation disease BEFREE This deleted region included GLI3 and GCK genes (where heterozygous mutations cause GCPS and MODY2, respectively), and many other contiguous genes. 22043488 2011