SMAD6, SMAD family member 6, 4091

N. diseases: 93; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis
0.320 Biomarker disease BEFREE SMAD6 mutated in nsRUS was further confirmed by direct Sanger sequencing of SMAD6-coding regions on other unrelated cohorts of nsRUS cases or families. 31138930 2019
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis
0.320 GeneticVariation disease BEFREE Correction: SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis. 31178591 2019
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis
0.320 Biomarker disease GENOMICS_ENGLAND SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis. 31138930 2019