NOG, noggin, 9241

N. diseases: 206; N. variants: 17
Disease: Carpal synostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431863
Disease: Carpal synostosis
Carpal synostosis 		0.110 GeneticVariation disease BEFREE In a subset of ROR2-negative patients with BDB, clinically defined by the additional occurrence of proximal symphalangism and carpal synostosis, we identified six different point mutations (P35A, P35S, A36P, E48K, R167G, and P187S) in the bone morphogenetic protein (BMP) antagonist NOGGIN (NOG). 17668388 2007
CUI: C0431863
Disease: Carpal synostosis
Carpal synostosis 		0.110 Biomarker disease HPO