MED12, mediator complex subunit 12, 9968

N. diseases: 340; N. variants: 21
Disease: Ohdo syndrome, Maat-Kievit-Brunner type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3698541
Disease: Ohdo syndrome, Maat-Kievit-Brunner type
Ohdo syndrome, Maat-Kievit-Brunner type 		0.730 GeneticVariation disease BEFREE Missense variants in MED12 cause three partially overlapping dysmorphic X-linked intellectual disability (XLID) syndromes: Lujan-Fryns syndrome (also known as Lujan syndrome), FG syndrome (also known as Opitz-Kaveggia syndrome) and X-linked Ohdo syndrome. 27286923 2016
CUI: C3698541
Disease: Ohdo syndrome, Maat-Kievit-Brunner type
Ohdo syndrome, Maat-Kievit-Brunner type 		0.730 GeneticVariation disease BEFREE Finally, direct sequencing of MED12, the gene mutated in Opitz-Kaveggia syndrome, Lujan-Fryns syndrome and X-linked Ohdo syndrome identified in the two sibs the missense mutation c.3443G>A (p.Arg1148His) inherited from the mother. 24715367 2014
CUI: C3698541
Disease: Ohdo syndrome, Maat-Kievit-Brunner type
Ohdo syndrome, Maat-Kievit-Brunner type 		0.730 GeneticVariation disease BEFREE Mutations in MED12 cause X-linked Ohdo syndrome. 23395478 2013
CUI: C3698541
Disease: Ohdo syndrome, Maat-Kievit-Brunner type
Ohdo syndrome, Maat-Kievit-Brunner type 		0.730 GeneticVariation disease UNIPROT Mutations in MED12 cause X-linked Ohdo syndrome. 23395478 2013
CUI: C3698541
Disease: Ohdo syndrome, Maat-Kievit-Brunner type
Ohdo syndrome, Maat-Kievit-Brunner type 		0.730 GermlineCausalMutation disease ORPHANET Mutations in MED12 cause X-linked Ohdo syndrome. 23395478 2013
CUI: C3698541
Disease: Ohdo syndrome, Maat-Kievit-Brunner type
Ohdo syndrome, Maat-Kievit-Brunner type 		0.730 Biomarker disease GENOMICS_ENGLAND A form of X-linked mental retardation with marfanoid habitus. 6711603 1984
CUI: C3698541
Disease: Ohdo syndrome, Maat-Kievit-Brunner type
Ohdo syndrome, Maat-Kievit-Brunner type 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C3698541
Disease: Ohdo syndrome, Maat-Kievit-Brunner type
Ohdo syndrome, Maat-Kievit-Brunner type 		0.730 GeneticVariation disease CLINVAR
CUI: C3698541
Disease: Ohdo syndrome, Maat-Kievit-Brunner type
Ohdo syndrome, Maat-Kievit-Brunner type 		0.730 CausalMutation disease CLINVAR