MED25, mediator complex subunit 25, 81857

N. diseases: 114; N. variants: 5
Disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225323
Disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME 		0.700 Biomarker disease GENOMICS_ENGLAND COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants? 30800049 2019
CUI: C4225323
Disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME 		0.700 Biomarker disease GENOMICS_ENGLAND Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family. 25527630 2015
CUI: C4225323
Disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME 		0.700 GermlineCausalMutation disease ORPHANET Homozygous MED25 mutation implicated in eye-intellectual disability syndrome. 25792360 2015
CUI: C4225323
Disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME 		0.700 Biomarker disease GENOMICS_ENGLAND Homozygous MED25 mutation implicated in eye-intellectual disability syndrome. 25792360 2015
CUI: C4225323
Disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME 		0.700 GeneticVariation disease UNIPROT Homozygous MED25 mutation implicated in eye-intellectual disability syndrome. 25792360 2015
CUI: C4225323
Disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME 		0.700 CausalMutation disease CLINVAR
CUI: C4225323
Disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME 		0.700 GeneticVariation disease CLINVAR
CUI: C4225323
Disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME 		0.700 Biomarker disease CTD_human