Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C0220769
Disease: FG syndrome
FG syndrome 		disease 0.800 None 1.000 3 10 1984 2016
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C0796022
Disease: Lujan Fryns syndrome
Lujan Fryns syndrome 		disease 0.740 None 1.000 0 3 1984 2016
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C3698541
Disease: Ohdo syndrome, Maat-Kievit-Brunner type
Ohdo syndrome, Maat-Kievit-Brunner type 		disease 0.730 strong 1.000 0 5 1984 2016
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.430 None 1.000 1 1 2014 2016
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.120 None 1.000 14 2 1993 2016
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.110 None 1.000 0 1 2016 2016
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 14 2 1993 2016
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C4023386
Disease: Morphological abnormality of the semicircular canal
Morphological abnormality of the semicircular canal 		disease 0.100 None 0 1
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype 0.100 None 0 1
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 1
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 0 3
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C4022856
Disease: Skewed maternal X inactivation
Skewed maternal X inactivation 		phenotype 0.100 None 0 1
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 2
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		phenotype 0.100 None 0 1
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		phenotype 0.100 None 0 1
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 2
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease 0.100 None 0 1
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 0 1
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		disease 0.100 None 0 1
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		disease 0.100 None 0 1
Entrez Id: 9968
Gene Symbol: MED12
MED12 		mediator complex subunit 12 0.476 0.769 1.00
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 1