Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
CUI: C3554689
Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 		0.600 CausalMutation CLINVAR Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase. 28632845

2017
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
CUI: C3554689
Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 		0.600 CausalMutation CLINVAR Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations. 27766312

2016
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
CUI: C3554689
Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 		0.600 CausalMutation CLINVAR PI3-kinase mutation linked to insulin and growth factor resistance in vivo. 26974159

2016
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
CUI: C3554689
Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 		0.600 CausalMutation CLINVAR De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly. 26529633

2016
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
CUI: C3554689
Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 		0.600 CausalMutation CLINVAR PIK3R1 mutations in SHORT syndrome. 23980586

2014
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
CUI: C3554689
Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 		0.600 CausalMutation CLINVAR Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K. 25488983

2014
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
CUI: C3554689
Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 		0.600 CausalMutation CLINVAR Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. 24886349

2014
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
CUI: C3554689
Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 		0.600 CausalMutation CLINVAR A human immunodeficiency caused by mutations in the PIK3R1 gene. 25133428

2014
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
CUI: C3554689
Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 		0.600 CausalMutation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637

2014
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
CUI: C3554689
Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 		0.600 CausalMutation CLINVAR SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. 23810379

2013
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
CUI: C3554689
Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 		0.600 CausalMutation CLINVAR PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. 23810378

2013
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
CUI: C3554689
Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 		0.600 CausalMutation CLINVAR Mutations in PIK3R1 cause SHORT syndrome. 23810382

2013
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
CUI: C3554689
Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 		0.600 CausalMutation CLINVAR Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K. 22351933

2012