Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553920374
rs1553920374
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C4540199
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.800 GeneticVariation UNIPROT Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. 29432562 2018
dbSNP: rs1553923787
rs1553923787
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C4540199
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.800 GeneticVariation UNIPROT Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. 29432562 2018
dbSNP: rs1553925558
rs1553925558
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C4540199
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.800 GeneticVariation UNIPROT Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. 29432562 2018
dbSNP: rs1553920374
rs1553920374
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C4540199
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.800 GeneticVariation UNIPROT De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. 28942967 2017
dbSNP: rs1553923787
rs1553923787
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C4540199
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.800 GeneticVariation UNIPROT De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. 28942967 2017
dbSNP: rs1553925558
rs1553925558
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C4540199
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.800 GeneticVariation UNIPROT De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. 28942967 2017
dbSNP: rs1553920374
rs1553920374
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C4540199
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1553923787
rs1553923787
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C4540199
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1553925558
rs1553925558
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C4540199
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs2583410
rs2583410
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1553923787
rs1553923787
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. 28942967 2017
dbSNP: rs1031034
rs1031034
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C0042900
Disease:
Vitiligo 		C 0.700 GeneticVariation GWASCAT Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants. 27723757 2016
dbSNP: rs1553923787
rs1553923787
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR The Emerging Roles of the Calcineurin-Nuclear Factor of Activated T-Lymphocytes Pathway in Nervous System Functions and Diseases. 27597899 2016
dbSNP: rs1553923787
rs1553923787
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Activation of calcineurin underlies altered trafficking of α2 subunit containing GABAA receptors during prolonged epileptiform activity. 25245802 2015
dbSNP: rs1553923787
rs1553923787
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR The effects of early-life seizures on hippocampal dendrite development and later-life learning and memory. 24140049 2014
dbSNP: rs1553923787
rs1553923787
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651 2014
dbSNP: rs1553923787
rs1553923787
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Molecular diagnostics of calcineurin-related pathologies. 22015374 2012
dbSNP: rs1553923787
rs1553923787
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice. 20700442 2010
dbSNP: rs1553923787
rs1553923787
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR AMPA/kainate receptor-mediated downregulation of GABAergic synaptic transmission by calcineurin after seizures in the developing rat brain. 15800199 2005
dbSNP: rs1553923787
rs1553923787
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR A significant increase in both basal and maximal calcineurin activity in the rat pilocarpine model of status epilepticus. 11461966 2001
dbSNP: rs1553923787
rs1553923787
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Regulation of calcineurin by growth cone calcium waves controls neurite extension. 10627609 2000
dbSNP: rs1553923787
rs1553923787
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR The calcineurin-dynamin 1 complex as a calcium sensor for synaptic vesicle endocytosis. 10473536 1999
dbSNP: rs1553923787
rs1553923787
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Calcineurin inhibition of dynamin I GTPase activity coupled to nerve terminal depolarization. 8052858 1994
dbSNP: rs1553923787
rs1553923787
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Differential localization of calmodulin-dependent enzymes in rat brain: evidence for selective expression of cyclic nucleotide phosphodiesterase in specific neurons. 3029762 1987
dbSNP: rs1553920376
rs1553920376
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C4540199
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		A 0.700 CausalMutation CLINVAR