DisGeNET - a database of gene-disease associations

rs769217, CAT

N. diseases: 12

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.

beta Thalassemia

CUI:	C0005283
Disease:	beta Thalassemia

103

0.742

0.440

11

34461361

synonymous variant

C/T

snv

0.25

0.22

0.010

1.000

2012

2012

beta^+^ Thalassemia

CUI:	C3841475
Disease:	beta^+^ Thalassemia

44

0.742

0.440

11

34461361

synonymous variant

C/T

snv

0.25

0.22

0.010

1.000

2012

2012

Complete atrioventricular block

CUI:	C0151517
Disease:	Complete atrioventricular block

96

0.742

0.440

11

34461361

synonymous variant

C/T

snv

0.25

0.22

0.010

1.000

2015

2015

Diabetes Mellitus, Insulin-Dependent

CUI:	C0011854
Disease:	Diabetes Mellitus, Insulin-Dependent

954

0.742

0.440

11

34461361

synonymous variant

C/T

snv

0.25

0.22

0.010

2006

2006

Diabetes Mellitus, Non-Insulin-Dependent

CUI:	C0011860
Disease:	Diabetes Mellitus, Non-Insulin-Dependent

2672

0.742

0.440

11

34461361

synonymous variant

C/T

snv

0.25

0.22

0.010

2012

2012

Diabetic Neuropathies

CUI:	C0011882
Disease:	Diabetic Neuropathies

12

0.742

0.440

11

34461361

synonymous variant

C/T

snv

0.25

0.22

0.010

1.000

2006

2006

Glaucoma, Primary Open Angle

CUI:	C0339573
Disease:	Glaucoma, Primary Open Angle

222

0.742

0.440

11

34461361

synonymous variant

C/T

snv

0.25

0.22

0.010

1.000

2018

2018

Iron-Refractory Iron Deficiency Anemia

CUI:	C0085576
Disease:	Iron-Refractory Iron Deficiency Anemia

36

0.742

0.440

11

34461361

synonymous variant

C/T

snv

0.25

0.22

0.010

1.000

2012

2012

Liver carcinoma

CUI:	C2239176
Disease:	Liver carcinoma

942

0.742

0.440

11

34461361

synonymous variant

C/T

snv

0.25

0.22

0.010

1.000

2015

2015

Liver Cirrhosis

CUI:	C0023890
Disease:	Liver Cirrhosis

189

0.742

0.440

11

34461361

synonymous variant

C/T

snv

0.25

0.22

0.010

1.000

2015

2015

Vitiligo

CUI:	C0042900
Disease:	Vitiligo

249

0.742

0.440

11

34461361

synonymous variant

C/T

snv

0.25

0.22

0.010

1.000

2015

2015

VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)

CUI:	C1847835
Disease:	VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)

92

0.742

0.440

11

34461361

synonymous variant

C/T

snv

0.25

0.22

0.010

1.000

2015

2015