DisGeNET - a database of gene-disease associations

rs1130233, AKT1

N. diseases: 13

Source: ALL

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.

ANOPHTHALMIA AND PULMONARY HYPOPLASIA

CUI:	C1832661
Disease:	ANOPHTHALMIA AND PULMONARY HYPOPLASIA

80

0.742

0.480

14

104773557

synonymous variant

C/T

snv

0.30

0.23

0.010

1.000

2014

2014

Bladder Neoplasm

CUI:	C0005695
Disease:	Bladder Neoplasm

281

0.742

0.480

14

104773557

synonymous variant

C/T

snv

0.30

0.23

0.010

1.000

2018

2018

Cachexia

CUI:	C0006625
Disease:	Cachexia

11

0.742

0.480

14

104773557

synonymous variant

C/T

snv

0.30

0.23

0.010

1.000

2014

2014

Carcinoma of bladder

CUI:	C0699885
Disease:	Carcinoma of bladder

309

0.742

0.480

14

104773557

synonymous variant

C/T

snv

0.30

0.23

0.010

1.000

2018

2018

Gastritis, Atrophic

CUI:	C0017154
Disease:	Gastritis, Atrophic

61

0.742

0.480

14

104773557

synonymous variant

C/T

snv

0.30

0.23

0.010

1.000

2015

2015

Infection caused by Helicobacter pylori

CUI:	C0850666
Disease:	Infection caused by Helicobacter pylori

56

0.742

0.480

14

104773557

synonymous variant

C/T

snv

0.30

0.23

0.010

1.000

2015

2015

Malignant neoplasm of stomach

CUI:	C0024623
Disease:	Malignant neoplasm of stomach

615

0.742

0.480

14

104773557

synonymous variant

C/T

snv

0.30

0.23

0.010

1.000

2015

2015

Malignant neoplasm of urinary bladder

CUI:	C0005684
Disease:	Malignant neoplasm of urinary bladder

316

0.742

0.480

14

104773557

synonymous variant

C/T

snv

0.30

0.23

0.010

1.000

2018

2018

Multiple malignancy

CUI:	C0346429
Disease:	Multiple malignancy

3

0.742

0.480

14

104773557

synonymous variant

C/T

snv

0.30

0.23

0.010

1.000

2015

2015

Nasopharyngeal carcinoma

CUI:	C2931822
Disease:	Nasopharyngeal carcinoma

320

0.742

0.480

14

104773557

synonymous variant

C/T

snv

0.30

0.23

0.010

1.000

2014

2014

Schizophrenia

CUI:	C0036341
Disease:	Schizophrenia

2897

0.742

0.480

14

104773557

synonymous variant

C/T

snv

0.30

0.23

0.010

1.000

2012

2012

Secondary malignant neoplasm of lymph node

CUI:	C0686619
Disease:	Secondary malignant neoplasm of lymph node

188

0.742

0.480

14

104773557

synonymous variant

C/T

snv

0.30

0.23

0.010

1.000

2015

2015

Stomach Carcinoma

CUI:	C0699791
Disease:	Stomach Carcinoma

652

0.742

0.480

14

104773557

synonymous variant

C/T

snv

0.30

0.23

0.010

1.000

2015

2015