CDK6, cyclin dependent kinase 6, 1021

N. diseases: 266; N. variants: 27
Disease: Autosomal Recessive Primary Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.310 GermlineCausalMutation disease ORPHANET CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. 23918663 2013
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.310 GeneticVariation disease BEFREE Twelve MCPH loci (MCPH1-MCPH12) have been mapped to date from various populations around the world and contain the following genes: Microcephalin, WDR62, CDK5RAP2, CASC5, ASPM, CENPJ, STIL, CEP135, CEP152, ZNF335, PHC1 and CDK6. 25951892 2015