Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 25644381

2016
Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]. 26273451

2015
Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum. 26338144

2015
Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. 24039113

2013
Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Mutations in MED12 cause X-linked Ohdo syndrome. 23395478

2013
Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). 20507344

2011
Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. 20970104

2010
Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. 17369503

2007
Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. 17334363

2007
Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. 17036352

2006
Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report. 17103446

2006
Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. 16700052

2006
Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Clinical and behavioral characteristics in FG syndrome. 10405444

1999
Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation CLINVAR Two additional cases of the Ohdo blepharophimosis syndrome. 8279489

1993