WNT7A, Wnt family member 7A, 7476

N. diseases: 182; N. variants: 10
Disease: Congenital hypoplasia of radius ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		0.110 GeneticVariation disease BEFREE Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel (AA/RRS) phocomelia syndrome are rare autosomal recessive inherited disorders characterized by aplastic/hypoplastic nails with ectopic dorsal palms, absence of humeri, hypoplastic ulnae, and bowed short radii with the elbow joints present, shown to result from missense mutations in WNT7A (p.Ala109Thr and p.Arg292Cys). 21344627 2011
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		0.110 Biomarker disease HPO