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: C0220769
Disease: FG syndrome
FG syndrome 		0.800 GeneticVariation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0796022
Disease: Lujan Fryns syndrome
Lujan Fryns syndrome 		0.740 CausalMutation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0796022
Disease: Lujan Fryns syndrome
Lujan Fryns syndrome 		0.740 GeneticVariation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C3698541
Disease: Ohdo syndrome, Maat-Kievit-Brunner type
Ohdo syndrome, Maat-Kievit-Brunner type 		0.730 GeneticVariation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C3698541
Disease: Ohdo syndrome, Maat-Kievit-Brunner type
Ohdo syndrome, Maat-Kievit-Brunner type 		0.730 CausalMutation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.110 GeneticVariation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		0.100 CausalMutation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.100 GeneticVariation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.100 CausalMutation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 CausalMutation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		0.100 CausalMutation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 CausalMutation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 GeneticVariation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 GeneticVariation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.100 GeneticVariation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C4022856
Disease: Skewed maternal X inactivation
Skewed maternal X inactivation 		0.100 GeneticVariation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C4023386
Disease: Morphological abnormality of the semicircular canal
Morphological abnormality of the semicircular canal 		0.100 GeneticVariation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation CLINVAR

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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). 20507344

2011