WNT7A, Wnt family member 7A, 7476

N. diseases: 182; N. variants: 10
Disease: Phocomelia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031575
Disease: Phocomelia
Phocomelia 		0.110 GeneticVariation disease 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
CUI: C0031575
Disease: Phocomelia
Phocomelia 		0.110 Biomarker disease HPO