Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C4225352
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 		0.700 CausalMutation CLINVAR

Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C4225352
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 		0.700 GeneticVariation CLINVAR

Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.100 GeneticVariation CLINVAR

Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.100 GeneticVariation CLINVAR

Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		0.100 CausalMutation CLINVAR

Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 CausalMutation CLINVAR

Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 GeneticVariation CLINVAR

Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 CausalMutation CLINVAR

Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0431447
Disease: Synophrys
Synophrys 		0.100 CausalMutation CLINVAR

Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 GeneticVariation CLINVAR

Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.100 CausalMutation CLINVAR

Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C1856888
Disease: Clinodactyly of the thumb
Clinodactyly of the thumb 		0.100 GeneticVariation CLINVAR

Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 CausalMutation CLINVAR

Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR

Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis 		0.100 GeneticVariation CLINVAR

Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		0.100 CausalMutation CLINVAR