Gene: MED12 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.120 Biomarker disease BEFREE He has mild to moderate intellectual disability and some dysmorphic features seen in MED12-related syndromes. 27286923 2016
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.120 GeneticVariation disease CLINVAR X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 25644381 2016
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.120 GeneticVariation disease 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 		0.120 GeneticVariation disease CLINVAR Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum. 26338144 2015
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.120 GeneticVariation disease CLINVAR Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. 24039113 2013
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.120 Biomarker disease BEFREE It is likely that more MED12 mutations will be detected in sporadic patients and X-linked families with intellectual disability and dysmorphic features as exome sequencing becomes more commonly utilized, and this overview of MED12-related disorders may help to correlate MED12 genotypes with clinical findings. 24123922 2013
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.120 GeneticVariation disease CLINVAR Mutations in MED12 cause X-linked Ohdo syndrome. 23395478 2013
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.120 GeneticVariation disease CLINVAR A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). 20507344 2011
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.120 GeneticVariation disease CLINVAR Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. 20970104 2010
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.120 GeneticVariation disease 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 		0.120 GeneticVariation disease CLINVAR A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. 17334363 2007
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.120 GeneticVariation disease CLINVAR Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. 17036352 2006
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.120 GeneticVariation disease CLINVAR Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report. 17103446 2006
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.120 GeneticVariation disease 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 		0.120 GeneticVariation disease CLINVAR Clinical and behavioral characteristics in FG syndrome. 10405444 1999
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.120 GeneticVariation disease CLINVAR Two additional cases of the Ohdo blepharophimosis syndrome. 8279489 1993