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: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
disease 0.700 None 1.000 0 5 2015 2015
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.100 None 1.000 1 2 2016 2016
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma
disease 0.100 None 1.000 1 3 2016 2016
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary
disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
Squamous cell carcinoma of the head and neck
disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm
disease 0.100 None 1.000 1 3 2016 2016
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.100 None 1.000 1 2 2016 2016
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis
disease 0.100 None 0 1
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay
disease 0.100 None 0 1
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C4021798
Disease: Impaired use of nonverbal behaviors
Impaired use of nonverbal behaviors
phenotype 0.100 None 0 1
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C1856888
Disease: Clinodactyly of the thumb
Clinodactyly of the thumb
phenotype 0.100 None 0 1
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype 0.100 None 0 1
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.100 None 0 1
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.100 None 0 1
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.100 None 0 1
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder
phenotype 0.100 None 0 1
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 1
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C0239234
Disease: Low set ears
Low set ears
disease 0.100 None 0 1
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C0431447
Disease: Synophrys
Synophrys
disease 0.100 None 0 1
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change
phenotype 0.100 None 0 1