MED12, mediator complex subunit 12, 9968

N. diseases: 340; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220769
Disease: FG syndrome
FG syndrome
0.800 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: C0220769
Disease: FG syndrome
FG syndrome
0.800 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: C0220769
Disease: FG syndrome
FG syndrome
0.800 GeneticVariation disease BEFREE MED12 is involved in a variety of cellular activities, and mutations in MED12 gene impair MED12 activities and are associated with several diseases, including Opitz-Kaveggia syndrome, Lujan syndrome, uterine leiomyomas and prostate cancer. 23836153 2013
CUI: C0220769
Disease: FG syndrome
FG syndrome
0.800 GeneticVariation disease BEFREE A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). 20507344 2011
CUI: C0220769
Disease: FG syndrome
FG syndrome
0.800 CausalMutation disease CLINVAR Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome). 20981778 2010
CUI: C0220769
Disease: FG syndrome
FG syndrome
0.800 GeneticVariation disease BEFREE (2007); Nature Genetics 39:451-453] identified an identical mutation (p.R961W) in MED12 in six families with Opitz-Kaveggia syndrome, including a surviving affected man from the original family reported in 1974. 20981778 2010
CUI: C0220769
Disease: FG syndrome
FG syndrome
0.800 Biomarker disease GENOMICS_ENGLAND These 23 patients were compared with 48 MED12 mutation-negative patients, who had the clinical diagnosis of FG syndrome. 19938245 2009
CUI: C0220769
Disease: FG syndrome
FG syndrome
0.800 CausalMutation disease CLINVAR These 23 patients were compared with 48 MED12 mutation-negative patients, who had the clinical diagnosis of FG syndrome. 19938245 2009
CUI: C0220769
Disease: FG syndrome
FG syndrome
0.800 GeneticVariation disease BEFREE These 23 patients were compared with 48 MED12 mutation-negative patients, who had the clinical diagnosis of FG syndrome. 19938245 2009
CUI: C0220769
Disease: FG syndrome
FG syndrome
0.800 GeneticVariation disease BEFREE In order to determine the prevalence of MED12 mutations in patients clinically diagnosed with FGS and to clarify the phenotypic spectrum of FGS, 30 individuals diagnosed previously with FGS were evaluated clinically and by MED12 sequencing. 18805826 2009
CUI: C0220769
Disease: FG syndrome
FG syndrome
0.800 GeneticVariation disease BEFREE Our findings reinforce the importance of testing for the p.R961W MED12 mutation in males who are suspected of having developmental and behavioral problems with a clinical phenotype that is consistent with FG syndrome. 18973276 2008
CUI: C0220769
Disease: FG syndrome
FG syndrome
0.800 GeneticVariation disease BEFREE Notably, missense mutations in MED12 causing the X-linked mental retardation (XLMR) disorders FG syndrome and Lujan syndrome disrupt its REST corepressor function. 18691967 2008
CUI: C0220769
Disease: FG syndrome
FG syndrome
0.800 Biomarker disease GENOMICS_ENGLAND Notably, missense mutations in MED12 causing the X-linked mental retardation (XLMR) disorders FG syndrome and Lujan syndrome disrupt its REST corepressor function. 18691967 2008
CUI: C0220769
Disease: FG syndrome
FG syndrome
0.800 GeneticVariation disease BEFREE A different missense mutation in the MED12 gene has been reported previously in the original family with FG syndrome and in five other families with compatible clinical findings. 17369503 2007
CUI: C0220769
Disease: FG syndrome
FG syndrome
0.800 CausalMutation disease CLINVAR A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. 17334363 2007
CUI: C0220769
Disease: FG syndrome
FG syndrome
0.800 Biomarker disease CTD_human A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. 17334363 2007
CUI: C0220769
Disease: FG syndrome
FG syndrome
0.800 GeneticVariation disease UNIPROT A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. 17334363 2007
CUI: C0220769
Disease: FG syndrome
FG syndrome
0.800 GeneticVariation disease BEFREE A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. 17334363 2007
CUI: C0220769
Disease: FG syndrome
FG syndrome
0.800 GermlineCausalMutation disease ORPHANET A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. 17334363 2007
CUI: C0220769
Disease: FG syndrome
FG syndrome
0.800 Biomarker disease GENOMICS_ENGLAND Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. 12784307 2003
CUI: C0220769
Disease: FG syndrome
FG syndrome
0.800 GeneticVariation disease BEFREE In a linkage analysis, we mapped a major FG syndrome locus [FGS1] to Xq13, between loci DXS135 and DXS1066. 11078572 2000
CUI: C0220769
Disease: FG syndrome
FG syndrome
0.800 Biomarker disease GENOMICS_ENGLAND A form of X-linked mental retardation with marfanoid habitus. 6711603 1984
CUI: C0220769
Disease: FG syndrome
FG syndrome
0.800 GeneticVariation disease CLINVAR
CUI: C0220769
Disease: FG syndrome
FG syndrome
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0796022
Disease: Lujan Fryns syndrome
Lujan Fryns syndrome
0.740 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