Disease: Desbuquois syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746391651
rs746391651
Entrez Id: 55790
Gene Symbol: CSGALNACT1
CSGALNACT1
CUI: C0432242
Disease:
Desbuquois syndrome 		0.010 GeneticVariation BEFREE In an infant with prenatal-onset disproportionate short stature, joint laxity, and radiographic findings typical for DD compound-heterozygosity for a large intragenic deletion, and a p.Pro384Arg missense mutation in CSGALNACT1 was found. 27599773 2017