TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152427
Disease: Polydactyly
Polydactyly
0.320 Biomarker disease LHGDN Polydactyly is usually found in MKS1 but rare in MKS3. 17377820 2007
CUI: C0152427
Disease: Polydactyly
Polydactyly
0.320 Biomarker disease BEFREE Comparison of the clinical features of MKS3-linked cases with reports of MKS1- and MKS2-linked kindreds suggests that polydactyly (and possibly encephalocele) appear less common in MKS3-linked families. 12384791 2002
CUI: C0152427
Disease: Polydactyly
Polydactyly
0.320 Biomarker disease GENOMICS_ENGLAND