DisGeNET - a database of gene-disease associations

TYMS, thymidylate synthetase, 7298

N. diseases: 406; N. variants: 19

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:

rs750248338

0.925

0.080

670857

missense variant

C/T

snv

4.0E-06

CUI:	C4722085
Disease:	Malignant neoplasm of colon and/or rectum

Malignant neoplasm of colon and/or rectum

0.010

1.000

2018

dbSNP:

rs9967368

1.000

0.080

656020

intron variant

C/G;T

snv

CUI:	C2239176
Disease:	Liver carcinoma

Liver carcinoma

Digestive System Diseases; Neoplasms

0.010

1.000

2017

dbSNP:

rs2853542

1.000

0.120

657685

5 prime UTR variant

G/C;T

snv

CUI:	C0023452
Disease:	Childhood Acute Lymphoblastic Leukemia

Childhood Acute Lymphoblastic Leukemia

Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases

0.010

1.000

2018

dbSNP:

rs2790

0.925

0.160

673086

3 prime UTR variant

A/G;T

snv

0.22

CUI:	C0023449
Disease:	Acute lymphocytic leukemia

Acute lymphocytic leukemia

Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases

0.010

1.000

2018

dbSNP:

rs2790

0.925

0.160

673086

3 prime UTR variant

A/G;T

snv

0.22

CUI:	C1336076
Disease:	Sporadic Breast Carcinoma

Sporadic Breast Carcinoma

Neoplasms; Skin and Connective Tissue Diseases

0.010

1.000

2015

dbSNP:

rs34743033

0.776

0.200

657657

5 prime UTR variant

GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG

delins

CUI:	C0038362
Disease:	Stomatitis

Stomatitis

Stomatognathic Diseases

0.020

0.500

2013

2018

dbSNP:

rs34743033

0.776

0.200

657657

5 prime UTR variant

delins

CUI:	C0027947
Disease:	Neutropenia

Neutropenia

Hemic and Lymphatic Diseases

0.010

1.000

2015

dbSNP:

rs34743033

0.776

0.200

657657

5 prime UTR variant

delins

CUI:	C0009402
Disease:	Colorectal Carcinoma

Colorectal Carcinoma

Digestive System Diseases; Neoplasms

0.010

1.000

2013

dbSNP:

rs34743033

0.776

0.200

657657

5 prime UTR variant

delins

CUI:	C0699791
Disease:	Stomach Carcinoma

Stomach Carcinoma

Digestive System Diseases; Neoplasms

0.010

1.000

2017

dbSNP:

rs34743033

0.776

0.200

657657

5 prime UTR variant

delins

CUI:	C1568868
Disease:	Oral Mucositis

Oral Mucositis

Stomatognathic Diseases

0.010

< 0.001

2018

dbSNP:

rs34743033

0.776

0.200

657657

5 prime UTR variant

delins

CUI:	C0035335
Disease:	Retinoblastoma

Retinoblastoma

Neoplasms; Eye Diseases

0.010

1.000

2016

dbSNP:

rs34743033

0.776

0.200

657657

5 prime UTR variant

delins

CUI:	C0023530
Disease:	Leukopenia

Leukopenia

Hemic and Lymphatic Diseases

0.010

1.000

2015

dbSNP:

rs34743033

0.776

0.200

657657

5 prime UTR variant

delins

CUI:	C0024623
Disease:	Malignant neoplasm of stomach

Malignant neoplasm of stomach

Digestive System Diseases; Neoplasms

0.010

1.000

2017

dbSNP:

rs1448674651

0.667

0.560

671384

missense variant

G/A;C

snv

4.0E-06

CUI:	C0678222
Disease:	Breast Carcinoma

Breast Carcinoma

Neoplasms; Skin and Connective Tissue Diseases

0.030

1.000

2011

2015

dbSNP:

rs1448674651

0.667

0.560

671384

missense variant

G/A;C

snv

4.0E-06

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

Neoplasms; Skin and Connective Tissue Diseases

0.030

1.000

2011

2015

dbSNP:

rs1448674651

0.667

0.560

671384

missense variant

G/A;C

snv

4.0E-06

CUI:	C0023449
Disease:	Acute lymphocytic leukemia

Acute lymphocytic leukemia

Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases

0.030

1.000

2009

2012

dbSNP:

rs1448674651

0.667

0.560

671384

missense variant

G/A;C

snv

4.0E-06

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

Lupus Erythematosus, Systemic

Skin and Connective Tissue Diseases; Immune System Diseases

0.020

1.000

2014

2015

dbSNP:

rs1448674651

0.667

0.560

671384

missense variant

G/A;C

snv

4.0E-06

CUI:	C0023452
Disease:	Childhood Acute Lymphoblastic Leukemia

Childhood Acute Lymphoblastic Leukemia

Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases

0.020

1.000

2009

2012

dbSNP:

rs1448674651

0.667

0.560

671384

missense variant

G/A;C

snv

4.0E-06

CUI:	C0751606
Disease:	Adult Acute Lymphocytic Leukemia

Adult Acute Lymphocytic Leukemia

0.020

1.000

2009

2012

dbSNP:

rs1448674651

0.667

0.560

671384

missense variant

G/A;C

snv

4.0E-06

CUI:	C1956346
Disease:	Coronary Artery Disease

Coronary Artery Disease

Cardiovascular Diseases

0.020

1.000

2013

2015

dbSNP:

rs1448674651

0.667

0.560

671384

missense variant

G/A;C

snv

4.0E-06

CUI:	C0035335
Disease:	Retinoblastoma

Retinoblastoma

Neoplasms; Eye Diseases

0.010

1.000

2010

dbSNP:

rs1448674651

0.667

0.560

671384

missense variant

G/A;C

snv

4.0E-06

CUI:	C0024305
Disease:	Lymphoma, Non-Hodgkin

Lymphoma, Non-Hodgkin

Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases

0.010

1.000

2004

dbSNP:

rs1448674651

0.667

0.560

671384

missense variant

G/A;C

snv

4.0E-06

CUI:	C0010068
Disease:	Coronary heart disease

Coronary heart disease

Cardiovascular Diseases

0.010

1.000

2013

dbSNP:

rs1448674651

0.667

0.560

671384

missense variant

G/A;C

snv

4.0E-06

CUI:	C0027819
Disease:	Neuroblastoma

Neuroblastoma

Neoplasms

0.010

1.000

2014

dbSNP:

rs1448674651

0.667

0.560

671384

missense variant

G/A;C

snv

4.0E-06

CUI:	C0007102
Disease:	Malignant tumor of colon

Malignant tumor of colon

Digestive System Diseases; Neoplasms

0.010

1.000

2005