WNT7A, Wnt family member 7A, 7476

N. diseases: 182; N. variants: 10
Disease: Phocomelia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893835
rs104893835
Entrez Id: 7476
Gene Symbol: WNT7A
WNT7A
CUI: C0031575
Disease:
Phocomelia 		0.010 GeneticVariation BEFREE In this paper, we present two new cases of AARRS from two different Saudi Arabian tribes: one case with R292C mutation of WNT7A with bilateral "apparent" phocomelia and a second case with a novel c.814G>T mutation of the WNT7A gene (resulting in wnt7a protein truncation at position 272) with unilateral "apparent" phocomelia. 23727605 2013