MKS1, MKS transition zone complex subunit 1, 54903

N. diseases: 231; N. variants: 57
Disease: Cystic renal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834931
Disease: Cystic renal dysplasia
Cystic renal dysplasia 		0.010 Biomarker disease BEFREE Here we present a novel Mks1(tm1a(EUCOMM)Wtsi) knockout mouse which accurately recapitulates the human condition, consistently developing pre-axial polydactyly, complex posterior fossa defects (including the Dandy-Walker malformation), and renal cystic dysplasia. 23454480 2013