MKS1, MKS transition zone complex subunit 1, 54903

N. diseases: 231; N. variants: 57
Disease: Ciliopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.340 Biomarker disease BEFREE Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies. 27570071 2016
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.340 GeneticVariation disease BEFREE Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. 24886560 2014
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.340 Biomarker disease BEFREE These studies demonstrate that MKS1 and MKS3 are ciliopathies, with new cilia-related eye and sperm phenotypes defined. 19515853 2009
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.340 GeneticVariation disease BEFREE In addition, we show that RPGRIP1L colocalizes at the basal body and centrosomes with the protein products of both NPHP6 and NPHP4, known genes associated with MKS, CORS and nephronophthisis (a related renal disorder and ciliopathy). 17558409 2007
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.340 Biomarker disease GENOMICS_ENGLAND