DisGeNET - a database of gene-disease associations

Source: BEFREE

Variant: rs1131691014 ×

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

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C1168401
Disease:	Squamous cell carcinoma of the head and neck

Squamous cell carcinoma of the head and neck

0.030

< 0.001

2007

2014

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C0023418
Disease:	leukemia

leukemia

0.020

< 0.001

2012

2016

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C1332977
Disease:	Childhood Leukemia

Childhood Leukemia

0.020

< 0.001

2012

2016

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

0.020

< 0.001

2012

2016

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C0019159
Disease:	Hepatitis A

Hepatitis A

0.010

< 0.001

2013

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C0011847
Disease:	Diabetes

Diabetes

0.010

< 0.001

2017

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C0026948
Disease:	Mycosis Fungoides

Mycosis Fungoides

0.010

< 0.001

2006

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C1276146
Disease:	Cutaneous lymphoma

Cutaneous lymphoma

0.010

< 0.001

2006

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C0746883
Disease:	Febrile Neutropenia

Febrile Neutropenia

0.010

< 0.001

2012

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C0019158
Disease:	Hepatitis

Hepatitis

0.010

< 0.001

2013

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C0023449
Disease:	Acute lymphocytic leukemia

Acute lymphocytic leukemia

0.010

< 0.001

2016

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C0220597
Disease:	Adult Hodgkin Lymphoma

Adult Hodgkin Lymphoma

0.010

< 0.001

2011

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C1862941
Disease:	Amyotrophic Lateral Sclerosis, Sporadic

Amyotrophic Lateral Sclerosis, Sporadic

0.010

< 0.001

2011

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C0220644
Disease:	Childhood Hodgkin Lymphoma

Childhood Hodgkin Lymphoma

0.010

< 0.001

2011

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C1853195
Disease:	Prostate Cancer, Hereditary, 7

Prostate Cancer, Hereditary, 7

0.010

< 0.001

2010

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.040

0.500

2005

2018

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C0019829
Disease:	Hodgkin Disease

Hodgkin Disease

0.020

0.500

2011

2012

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C1333990
Disease:	Hereditary Nonpolyposis Colorectal Cancer

Hereditary Nonpolyposis Colorectal Cancer

0.020

0.500

2006

2007

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C0007115
Disease:	Malignant neoplasm of thyroid

Malignant neoplasm of thyroid

0.020

0.500

2014

2015

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C0585442
Disease:	Osteosarcoma of bone

Osteosarcoma of bone

0.020

0.500

2007

2009

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C0029463
Disease:	Osteosarcoma

Osteosarcoma

0.020

0.500

2007

2009

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C1332986
Disease:	Childhood Osteosarcoma

Childhood Osteosarcoma

0.020

0.500

2007

2009

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C0346647
Disease:	Malignant neoplasm of pancreas

Malignant neoplasm of pancreas

0.020

0.500

2011

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C0235974
Disease:	Pancreatic carcinoma

Pancreatic carcinoma

0.020

0.500

2011

dbSNP:

rs1131691014

TP53

0.439

0.800

7676154

frameshift variant

-/C

ins

CUI:	C0011849
Disease:	Diabetes Mellitus

Diabetes Mellitus

0.020

0.500

2014

2017