MED12, mediator complex subunit 12, 9968

N. diseases: 340; N. variants: 21
Disease: Multiple congenital anomalies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 25644381 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum. 26338144 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]. 26273451 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Mutations in MED12 cause X-linked Ohdo syndrome. 23395478 2013
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. 24039113 2013
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). 20507344 2011
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. 20970104 2010
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. 17334363 2007
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. 17369503 2007
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report. 17103446 2006
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. 17036352 2006
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Clinical and behavioral characteristics in FG syndrome. 10405444 1999
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Two additional cases of the Ohdo blepharophimosis syndrome. 8279489 1993