GPC1, glypican 1, 2817

N. diseases: 96; N. variants: 3
Disease: Simpson-Golabi-Behmel syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4317043
Disease: Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome 		0.010 GeneticVariation phenotype BEFREE Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. 10814714 2000