MED17, mediator complex subunit 17, 9440

N. diseases: 25; N. variants: 4
Disease: Cerebellar atrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607232
rs267607232
Entrez Id: 9440
Gene Symbol: MED17
MED17
CUI: C0740279
Disease:
Cerebellar atrophy 		0.010 GeneticVariation BEFREE We conclude that the p. L371P mutation in MED17 is a founder mutation in the Caucasus Jewish community and that homozygosity for this mutation is associated with infantile cerebral and cerebellar atrophy with poor myelination. 20950787 2010