DisGeNET - a database of gene-disease associations

NR1H2, nuclear receptor subfamily 1 group H member 2, 7376

N. diseases: 134; N. variants: 8

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

Variant

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs2695121

0.716

0.280

50377484

5 prime UTR variant

T/C

snv

0.70

CUI:	C4525301
Disease:	Stage IIB Gallbladder Cancer AJCC v8

Stage IIB Gallbladder Cancer AJCC v8

0.020

< 0.001

2013

2014

dbSNP:

rs2695121

0.716

0.280

50377484

5 prime UTR variant

T/C

snv

0.70

CUI:	C4525297
Disease:	Stage 0 Gallbladder Cancer AJCC v8

Stage 0 Gallbladder Cancer AJCC v8

0.020

< 0.001

2013

2014

dbSNP:

rs2695121

0.716

0.280

50377484

5 prime UTR variant

T/C

snv

0.70

CUI:	C4525305
Disease:	Stage IV Gallbladder Cancer AJCC v8

Stage IV Gallbladder Cancer AJCC v8

0.020

< 0.001

2013

2014

dbSNP:

rs2695121

0.716

0.280

50377484

5 prime UTR variant

T/C

snv

0.70

CUI:	C4525300
Disease:	Stage IIA Gallbladder Cancer AJCC v8

Stage IIA Gallbladder Cancer AJCC v8

0.020

< 0.001

2013

2014

dbSNP:

rs2695121

0.716

0.280

50377484

5 prime UTR variant

T/C

snv

0.70

CUI:	C4525302
Disease:	Stage III Gallbladder Cancer AJCC v8

Stage III Gallbladder Cancer AJCC v8

0.020

< 0.001

2013

2014

dbSNP:

rs35463555

0.776

0.160

50374423

intron variant

G/A

snv

0.29

CUI:	C4525302
Disease:	Stage III Gallbladder Cancer AJCC v8

Stage III Gallbladder Cancer AJCC v8

0.010

< 0.001

2013

dbSNP:

rs35463555

0.776

0.160

50374423

intron variant

G/A

snv

0.29

CUI:	C4525297
Disease:	Stage 0 Gallbladder Cancer AJCC v8

Stage 0 Gallbladder Cancer AJCC v8

0.010

< 0.001

2013

dbSNP:

rs35463555

0.776

0.160

50374423

intron variant

G/A

snv

0.29

CUI:	C4525301
Disease:	Stage IIB Gallbladder Cancer AJCC v8

Stage IIB Gallbladder Cancer AJCC v8

0.010

< 0.001

2013

dbSNP:

rs35463555

0.776

0.160

50374423

intron variant

G/A

snv

0.29

CUI:	C4525305
Disease:	Stage IV Gallbladder Cancer AJCC v8

Stage IV Gallbladder Cancer AJCC v8

0.010

< 0.001

2013

dbSNP:

rs35463555

0.776

0.160

50374423

intron variant

G/A

snv

0.29

CUI:	C4525300
Disease:	Stage IIA Gallbladder Cancer AJCC v8

Stage IIA Gallbladder Cancer AJCC v8

0.010

< 0.001

2013

dbSNP:

rs2695121

0.716

0.280

50377484

5 prime UTR variant

T/C

snv

0.70

CUI:	C0003467
Disease:	Anxiety

Anxiety

Behavior and Behavior Mechanisms

0.010

1.000

2017

dbSNP:

rs1405655

0.925

0.120

50379362

intron variant

T/C;G

snv

CUI:	C0021390
Disease:	Inflammatory Bowel Diseases

Inflammatory Bowel Diseases

Digestive System Diseases

0.010

1.000

2011

dbSNP:

rs2695121

0.716

0.280

50377484

5 prime UTR variant

T/C

snv

0.70

CUI:	C0021390
Disease:	Inflammatory Bowel Diseases

Inflammatory Bowel Diseases

Digestive System Diseases

0.010

1.000

2011

dbSNP:

rs2695121

0.716

0.280

50377484

5 prime UTR variant

T/C

snv

0.70

CUI:	C0009324
Disease:	Ulcerative Colitis

Ulcerative Colitis

Digestive System Diseases

0.010

1.000

2011

dbSNP:

rs2695121

0.716

0.280

50377484

5 prime UTR variant

T/C

snv

0.70

CUI:	C0235782
Disease:	Gallbladder Carcinoma

Gallbladder Carcinoma

Digestive System Diseases; Neoplasms

0.020

< 0.001

2013

2014

dbSNP:

rs2695121

0.716

0.280

50377484

5 prime UTR variant

T/C

snv

0.70

CUI:	C0153452
Disease:	Malignant neoplasm of gallbladder

Malignant neoplasm of gallbladder

Digestive System Diseases; Neoplasms

0.020

< 0.001

2013

2014

dbSNP:

rs35463555

0.776

0.160

50374423

intron variant

G/A

snv

0.29

CUI:	C0235782
Disease:	Gallbladder Carcinoma

Gallbladder Carcinoma

Digestive System Diseases; Neoplasms

0.010

< 0.001

2013

dbSNP:

rs35463555

0.776

0.160

50374423

intron variant

G/A

snv

0.29

CUI:	C0153452
Disease:	Malignant neoplasm of gallbladder

Malignant neoplasm of gallbladder

Digestive System Diseases; Neoplasms

0.010

< 0.001

2013

dbSNP:

rs1035650739

1.000

0.040

50362252

missense variant

C/G;T

snv

4.0E-06

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

Eye Diseases

0.010

1.000

2016

dbSNP:

rs1052677

1.000

0.040

50382924

3 prime UTR variant

C/G;T

snv

0.45

CUI:	C0041296
Disease:	Tuberculosis

Tuberculosis

Infections

0.010

1.000

2014

dbSNP:

rs1405655

0.925

0.120

50379362

intron variant

T/C;G

snv

CUI:	C0041296
Disease:	Tuberculosis

Tuberculosis

Infections

0.010

1.000

2014

dbSNP:

rs17373080

0.851

0.160

50376267

5 prime UTR variant

C/G

snv

0.29

CUI:	C0041296
Disease:	Tuberculosis

Tuberculosis

Infections

0.010

1.000

2014

dbSNP:

rs2248949

0.925

0.120

50378912

non coding transcript exon variant

A/G;T

snv

CUI:	C0041296
Disease:	Tuberculosis

Tuberculosis

Infections

0.010

1.000

2014

dbSNP:

rs2695121

0.716

0.280

50377484

5 prime UTR variant

T/C

snv

0.70

CUI:	C0003469
Disease:	Anxiety Disorders

Anxiety Disorders

Mental Disorders

0.010

1.000

2017

dbSNP:

rs375532795

0.925

0.080

50378735

missense variant

A/G

snv

CUI:	C0678222
Disease:	Breast Carcinoma

Breast Carcinoma

Neoplasms; Skin and Connective Tissue Diseases

0.010

1.000

2010