MKS1, MKS transition zone complex subunit 1, 54903

N. diseases: 231; N. variants: 57
Disease: Congenital cerebral hernia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		0.110 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: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		0.110 Biomarker disease HPO