MED12, mediator complex subunit 12, 9968

N. diseases: 340; N. variants: 21
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80338758
rs80338758
0.790 0.400 X 71127367 missense variant C/A;T snv
CUI: C0220769
Disease: FG syndrome
FG syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases 0.860 1.000 6 2007 2011
dbSNP: rs80338759
rs80338759
0.925 0.280 X 71127931 missense variant A/G snv
CUI: C0796022
Disease: Lujan Fryns syndrome
Lujan Fryns syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.810 1.000 2 2007 2013
dbSNP: rs387907360
rs387907360
1.000 0.280 X 71128686 missense variant G/A;T snv
Ohdo syndrome, Maat-Kievit-Brunner type
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.710 1.000 1 2014 2014
dbSNP: rs1556334793
rs1556334793
1.000 X 71122558 frameshift variant G/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 14 1993 2016
dbSNP: rs1556334793
rs1556334793
1.000 X 71122558 frameshift variant G/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 14 1993 2016
dbSNP: rs1556340124
rs1556340124
1.000 X 71141320 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 14 1993 2016
dbSNP: rs1556340124
rs1556340124
1.000 X 71141320 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 14 1993 2016
dbSNP: rs1057519912
rs1057519912
0.776 0.200 X 71129408 missense variant C/G;T snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519912
rs1057519912
0.776 0.200 X 71129408 missense variant C/G;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519912
rs1057519912
0.776 0.200 X 71129408 missense variant C/G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519912
rs1057519912
0.776 0.200 X 71129408 missense variant C/G;T snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519912
rs1057519912
0.776 0.200 X 71129408 missense variant C/G;T snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057518921
rs1057518921
1.000 X 71132465 missense variant G/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 0
dbSNP: rs1057518921
rs1057518921
1.000 X 71132465 missense variant G/A snv
CUI: C0454641
Disease: Expressive language delay
Expressive language delay
0.700 0
dbSNP: rs1057518921
rs1057518921
1.000 X 71132465 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057518921
rs1057518921
1.000 X 71132465 missense variant G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1057518921
rs1057518921
1.000 X 71132465 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1057518921
rs1057518921
1.000 X 71132465 missense variant G/A snv
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
0.700 0
dbSNP: rs1057518921
rs1057518921
1.000 X 71132465 missense variant G/A snv
CUI: C1854882
Disease: Absent speech
Absent speech
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057519381
rs1057519381
0.851 0.240 X 71124276 missense variant G/A snv
CUI: C0220769
Disease: FG syndrome
FG syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057519381
rs1057519381
0.851 0.240 X 71124276 missense variant G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 0
dbSNP: rs1057519381
rs1057519381
0.851 0.240 X 71124276 missense variant G/A snv
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1057519381
rs1057519381
0.851 0.240 X 71124276 missense variant G/A snv
Morphological abnormality of the semicircular canal
0.700 0
dbSNP: rs1057519381
rs1057519381
0.851 0.240 X 71124276 missense variant G/A snv
CUI: C0025990
Disease: Micrognathism
Micrognathism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1057519381
rs1057519381
0.851 0.240 X 71124276 missense variant G/A snv
CUI: C4022856
Disease: Skewed maternal X inactivation
Skewed maternal X inactivation
0.700 0