Source: HPO

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 0.528 0.655 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.500 strong 0.917 0 0 1984 2017
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders
group 0.420 1.000 0 0 2004 2008
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease 0.140 0.750 0 0 2000 2004
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
group 0.120 0.500 0 0 2001 2002
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 1.000 0 0 2017 2017
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C1850530
Disease: Flexion contractures of joints
Flexion contractures of joints
phenotype 0.100 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype 0.100 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C1849121
Disease: Thin face
Thin face
phenotype 0.100 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype 0.100 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased
phenotype 0.100 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile
phenotype 0.100 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype 0.100 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C1854301
Disease: Motor delay
Motor delay
phenotype 0.100 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C1854417
Disease: Postnatal macrocephaly
Postnatal macrocephaly
phenotype 0.100 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C1855751
Disease: Bulbous nasal tip
Bulbous nasal tip
phenotype 0.100 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion
phenotype 0.100 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
Aplasia/Hypoplasia of the corpus callosum
phenotype 0.100 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C1861324
Disease: Short philtrum
Short philtrum
phenotype 0.100 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C1860844
Disease: Thin, sparse hair
Thin, sparse hair
phenotype 0.100 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum
phenotype 0.100 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
Partial or complete agenesis of corpus callosum
disease 0.100 0 0