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: 5295
Gene Symbol: PIK3R1
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome
disease 0.800 definitive 0.955 14 12 2000 2019
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36
disease 0.600 None 1.000 13 7 2012 2018
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
disease 0.600 None 1.000 13 5 2012 2017
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.200 None 0.960 3 9 1998 2019
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease 0.140 None 0.800 1 1 2004 2016
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.100 None 1.000 1 1 2016 2016
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
group 0.100 None 1.000 1 2 2016 2016