MED17, mediator complex subunit 17, 9440

N. diseases: 25; N. variants: 4
Disease: Chorea ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008489
Disease: Chorea
Chorea 		0.010 GeneticVariation phenotype BEFREE Distinct but milder phenotypes with choreiform movements in siblings with compound heterozygous mutations in the transcription preinitiation mediator complex subunit 17 (MED17). 26004231 2016