Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515453
rs397515453
PIK3R1
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		T 0.820 CausalMutation CLINVAR We investigated knock-in mice heterozygous for the SHORT syndrome mutation changing arginine 649 to tryptophan in p85α (PIK3R1) using physical examination, optical coherence tomography (OCT), tonometry, and histopathologic sections from paraffin-embedded eyes, and compared the findings to similar investigations in two human subjects with SHORT syndrome heterozygous for the same mutation. 28632845

2017
dbSNP: rs397515453
rs397515453
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		T 0.700 CausalMutation CLINVAR Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase. 28632845

2017
dbSNP: rs397515453
rs397515453
PIK3R1
CUI: C3554689
Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase. 28632845

2017
dbSNP: rs397515453
rs397515453
PIK3R1
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		T 0.820 CausalMutation CLINVAR Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations. 27766312

2016
dbSNP: rs397515453
rs397515453
PIK3R1
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		T 0.820 CausalMutation CLINVAR PI3-kinase mutation linked to insulin and growth factor resistance in vivo. 26974159

2016
dbSNP: rs797045063
rs797045063
PIK3R1
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		C 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs587777709
rs587777709
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		C 0.700 CausalMutation CLINVAR De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly. 26529633

2016
dbSNP: rs587777709
rs587777709
PIK3R1
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		C 0.700 CausalMutation CLINVAR De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly. 26529633

2016
dbSNP: rs587777709
rs587777709
PIK3R1
CUI: C3554689
Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 		C 0.700 CausalMutation CLINVAR De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly. 26529633

2016
dbSNP: rs397515453
rs397515453
PIK3R1
CUI: C3554689
Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR PI3-kinase mutation linked to insulin and growth factor resistance in vivo. 26974159

2016
dbSNP: rs397515453
rs397515453
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		T 0.700 CausalMutation CLINVAR PI3-kinase mutation linked to insulin and growth factor resistance in vivo. 26974159

2016
dbSNP: rs397515453
rs397515453
PIK3R1
CUI: C3554689
Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations. 27766312

2016
dbSNP: rs397515453
rs397515453
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		T 0.700 CausalMutation CLINVAR Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations. 27766312

2016
dbSNP: rs1057519841
rs1057519841
PIK3R1
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519841
rs1057519841
PIK3R1
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519841
rs1057519841
PIK3R1
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519841
rs1057519841
PIK3R1
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519757
rs1057519757
PIK3R1
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519757
rs1057519757
PIK3R1
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519757
rs1057519757
PIK3R1
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519757
rs1057519757
PIK3R1
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs397515453
rs397515453
PIK3R1
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		T 0.820 CausalMutation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637

2014
dbSNP: rs397515453
rs397515453
PIK3R1
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		T 0.820 CausalMutation CLINVAR Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. 24886349

2014
dbSNP: rs397515453
rs397515453
PIK3R1
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		T 0.820 CausalMutation CLINVAR These two patients not only provide additional evidence that PIK3R1 mutations cause SHORT syndrome, but also broaden the clinical spectrum of this syndrome and further confirm that the amino acid exchange c.1945C>T; p.Arg649Trp is a hotspot mutation in this gene. 23980586

2014
dbSNP: rs773686816
rs773686816
PIK3R1
CUI: C0027651
Disease: Neoplasms
Neoplasms 		G 0.700 GeneticVariation CLINVAR The structural basis of PI3K cancer mutations: from mechanism to therapy. 24459181

2014