DisGeNET - a database of gene-disease associations

rs121913281, PIK3CA

N. diseases: 37

Source: CLINVAR ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Malignant Uterine Corpus Neoplasm

CUI:	C0153574
Disease:	Malignant Uterine Corpus Neoplasm

152

0.623

0.520

3

179234296

missense variant

C/T

snv

0.700

1.000

2016

2016

Mammary Neoplasms

CUI:	C1458155
Disease:	Mammary Neoplasms

314

0.623

0.520

3

179234296

missense variant

C/T

snv

0.700

1.000

2016

2016

Medulloblastoma

CUI:	C0025149
Disease:	Medulloblastoma

80

0.623

0.520

3

179234296

missense variant

C/T

snv

0.700

1.000

2016

2016

Renal Cell Carcinoma

CUI:	C0007134
Disease:	Renal Cell Carcinoma

66

0.623

0.520

3

179234296

missense variant

C/T

snv

0.700

1.000

2016

2016

Serous cystadenocarcinoma ovary

CUI:	C0279663
Disease:	Serous cystadenocarcinoma ovary

99

0.623

0.520

3

179234296

missense variant

C/T

snv

0.700

1.000

2016

2016

Squamous cell carcinoma of lung

CUI:	C0149782
Disease:	Squamous cell carcinoma of lung

135

0.623

0.520

3

179234296

missense variant

C/T

snv

0.700

1.000

2016

2016

Squamous cell carcinoma of the head and neck

CUI:	C1168401
Disease:	Squamous cell carcinoma of the head and neck

179

0.623

0.520

3

179234296

missense variant

C/T

snv

0.700

1.000

2016

2016

Transitional cell carcinoma of bladder

CUI:	C0279680
Disease:	Transitional cell carcinoma of bladder

141

0.623

0.520

3

179234296

missense variant

C/T

snv

0.700

1.000

2016

2016

Uterine Carcinosarcoma

CUI:	C0280630
Disease:	Uterine Carcinosarcoma

80

0.623

0.520

3

179234296

missense variant

C/T

snv

0.700

1.000

2016

2016

Uterine Cervical Neoplasm

CUI:	C0007873
Disease:	Uterine Cervical Neoplasm

69

0.623

0.520

3

179234296

missense variant

C/T

snv

0.700

1.000

2016

2016

Malignant neoplasm of floor of mouth

CUI:	C0153368
Disease:	Malignant neoplasm of floor of mouth

3

0.623

0.520

3

179234296

missense variant

C/T

snv

0.700

1.000

2011

2014

Hamartoma Syndrome, Multiple

CUI:	C0018553
Disease:	Hamartoma Syndrome, Multiple

98

0.623

0.520

3

179234296

missense variant

C/T

snv

0.700

1.000

2007

2016