DisGeNET - a database of gene-disease associations

rs1057519940, PIK3CA

N. diseases: 13

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.

Adenocarcinoma of prostate

CUI:	C0007112
Disease:	Adenocarcinoma of prostate

96

0.752

0.200

3

179218308

missense variant

G/T

snv

0.700

1.000

2016

2016

Brain Neoplasms

CUI:	C0006118
Disease:	Brain Neoplasms

118

0.752

0.200

3

179218308

missense variant

G/T

snv

0.700

1.000

2016

2016

Colorectal Neoplasms

CUI:	C0009404
Disease:	Colorectal Neoplasms

216

0.752

0.200

3

179218308

missense variant

G/T

snv

0.700

1.000

2016

2016

Cutaneous Melanoma

CUI:	C0151779
Disease:	Cutaneous Melanoma

153

0.752

0.200

3

179218308

missense variant

G/T

snv

0.700

1.000

2016

2016

Gastric Adenocarcinoma

CUI:	C0278701
Disease:	Gastric Adenocarcinoma

188

0.752

0.200

3

179218308

missense variant

G/T

snv

0.700

1.000

2016

2016

Glioblastoma

CUI:	C0017636
Disease:	Glioblastoma

115

0.752

0.200

3

179218308

missense variant

G/T

snv

0.700

1.000

2016

2016

Malignant Uterine Corpus Neoplasm

CUI:	C0153574
Disease:	Malignant Uterine Corpus Neoplasm

152

0.752

0.200

3

179218308

missense variant

G/T

snv

0.700

1.000

2016

2016

Mammary Neoplasms

CUI:	C1458155
Disease:	Mammary Neoplasms

314

0.752

0.200

3

179218308

missense variant

G/T

snv

0.700

1.000

2016

2016

Medulloblastoma

CUI:	C0025149
Disease:	Medulloblastoma

80

0.752

0.200

3

179218308

missense variant

G/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

0.752

0.200

3

179218308

missense variant

G/T

snv

0.700

1.000

2016

2016

Transitional cell carcinoma of bladder

CUI:	C0279680
Disease:	Transitional cell carcinoma of bladder

141

0.752

0.200

3

179218308

missense variant

G/T

snv

0.700

1.000

2016

2016

Uterine Carcinosarcoma

CUI:	C0280630
Disease:	Uterine Carcinosarcoma

80

0.752

0.200

3

179218308

missense variant

G/T

snv

0.700

1.000

2016

2016

Uterine Cervical Neoplasm

CUI:	C0007873
Disease:	Uterine Cervical Neoplasm

69

0.752

0.200

3

179218308

missense variant

G/T

snv

0.700

1.000

2016

2016