TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Encephalocele ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551722
Disease: Encephalocele
Encephalocele 		0.010 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