DisGeNET - a database of gene-disease associations

IL1RN, interleukin 1 receptor antagonist, 3557

N. diseases: 701; N. variants: 52

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:

rs1380437028

1.000

0.080

113132708

missense variant

C/G

snv

7.0E-06

CUI:	C0002736
Disease:	Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis

Nutritional and Metabolic Diseases; Nervous System Diseases

0.010

1.000

2002

dbSNP:

rs1457547311

0.851

0.080

113131082

synonymous variant

G/A

snv

4.0E-06

CUI:	C0085695
Disease:	Chronic gastritis

Chronic gastritis

Digestive System Diseases

0.010

< 0.001

2012

dbSNP:

rs1457547311

0.851

0.080

113131082

synonymous variant

G/A

snv

4.0E-06

CUI:	C0679408
Disease:	Lesion of stomach

Lesion of stomach

Digestive System Diseases

0.010

< 0.001

2013

dbSNP:

rs1457547311

0.851

0.080

113131082

synonymous variant

G/A

snv

4.0E-06

CUI:	C0699791
Disease:	Stomach Carcinoma

Stomach Carcinoma

Digestive System Diseases; Neoplasms

0.010

< 0.001

2012

dbSNP:

rs1457547311

0.851

0.080

113131082

synonymous variant

G/A

snv

4.0E-06

CUI:	C0024623
Disease:	Malignant neoplasm of stomach

Malignant neoplasm of stomach

Digestive System Diseases; Neoplasms

0.010

< 0.001

2012

dbSNP:

rs1688075

1.000

0.120

113100619

regulatory region variant

C/A

snv

0.91

CUI:	C1384600
Disease:	Systemic onset juvenile chronic arthritis

Systemic onset juvenile chronic arthritis

Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases

0.010

1.000

2008

dbSNP:

rs1794068

1.000

0.040

113128926

intron variant

G/A

snv

0.21

CUI:	C0036341
Disease:	Schizophrenia

Schizophrenia

Mental Disorders

0.010

< 0.001

2010

dbSNP:

rs201638660

1.000

0.080

113131111

missense variant

G/T

snv

2.1E-04

2.5E-04

CUI:	C0410422
Disease:	Chronic multifocal osteomyelitis

Chronic multifocal osteomyelitis

Infections; Musculoskeletal Diseases

0.010

1.000

2012

dbSNP:

rs2234663

0.716

0.480

113130529

intron variant

ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC

delins

CUI:	C0035439
Disease:	Rheumatic Heart Disease

Rheumatic Heart Disease

Infections; Cardiovascular Diseases

0.010

1.000

2016

dbSNP:

rs2234663

0.716

0.480

113130529

intron variant

delins

CUI:	C0003873
Disease:	Rheumatoid Arthritis

Rheumatoid Arthritis

Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases

0.010

1.000

2017

dbSNP:

rs2234663

0.716

0.480

113130529

intron variant

delins

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

0.010

< 0.001

2016

dbSNP:

rs2234663

0.716

0.480

113130529

intron variant

delins

CUI:	C0151779
Disease:	Cutaneous Melanoma

Cutaneous Melanoma

Neoplasms; Skin and Connective Tissue Diseases

0.010

1.000

2019

dbSNP:

rs2234663

0.716

0.480

113130529

intron variant

delins

CUI:	C0029443
Disease:	Osteomyelitis

Osteomyelitis

Infections; Musculoskeletal Diseases

0.010

1.000

2017

dbSNP:

rs2234663

0.716

0.480

113130529

intron variant

delins

CUI:	C0023283
Disease:	Leishmaniasis, Cutaneous

Leishmaniasis, Cutaneous

Infections; Skin and Connective Tissue Diseases

0.010

1.000

2019

dbSNP:

rs2234663

0.716

0.480

113130529

intron variant

delins

CUI:	C0031099
Disease:	Periodontitis

Periodontitis

Stomatognathic Diseases

0.010

1.000

2012

dbSNP:

rs2234663

0.716

0.480

113130529

intron variant

delins

CUI:	C0018213
Disease:	Graves Disease

Graves Disease

Eye Diseases; Immune System Diseases; Endocrine System Diseases

0.010

1.000

2018

dbSNP:

rs2234663

0.716

0.480

113130529

intron variant

delins

CUI:	C0742343
Disease:	Acute Chest Syndrome

Acute Chest Syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases

0.010

1.000

2010

dbSNP:

rs2234663

0.716

0.480

113130529

intron variant

delins

CUI:	C0042900
Disease:	Vitiligo

Vitiligo

Skin and Connective Tissue Diseases

0.010

1.000

2018

dbSNP:

rs2234663

0.716

0.480

113130529

intron variant

delins

CUI:	C0025202
Disease:	melanoma

melanoma

Neoplasms

0.010

1.000

2019

dbSNP:

rs2234663

0.716

0.480

113130529

intron variant

delins

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

VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)

Skin and Connective Tissue Diseases

0.010

1.000

2018

dbSNP:

rs2234663

0.716

0.480

113130529

intron variant

delins

CUI:	C0041228
Disease:	African Trypanosomiasis

African Trypanosomiasis

Infections

0.010

1.000

2019

dbSNP:

rs2234663

0.716

0.480

113130529

intron variant

delins

CUI:	C0024117
Disease:	Chronic Obstructive Airway Disease

Chronic Obstructive Airway Disease

Respiratory Tract Diseases

0.010

1.000

2014

dbSNP:

rs2234677

113117932

5 prime UTR variant

G/A;T

snv

CUI:	C0019270
Disease:	Hernia

Hernia

Pathological Conditions, Signs and Symptoms

0.010

1.000

2014

dbSNP:

rs2234677

113117932

5 prime UTR variant

G/A;T

snv

CUI:	C0278147
Disease:	Radicular pain

Radicular pain

Pathological Conditions, Signs and Symptoms

0.010

1.000

2014

dbSNP:

rs2234678

0.925

0.080

113117988

5 prime UTR variant

A/G

snv

0.25

0.21

CUI:	C0264408
Disease:	Childhood asthma

Childhood asthma

Respiratory Tract Diseases; Immune System Diseases

0.010

1.000

2007