MKS1, MKS transition zone complex subunit 1, 54903

N. diseases: 231; N. variants: 57
Disease: Agenesis of corpus callosum ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.110 GeneticVariation disease BEFREE MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. 27377014 2016
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.110 Biomarker disease HPO