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:

rs315952

0.763

0.400

113132727

missense variant

T/A;C

snv

4.0E-06; 0.31

CUI:	C0035222
Disease:	Respiratory Distress Syndrome, Adult

Respiratory Distress Syndrome, Adult

Respiratory Tract Diseases

0.020

1.000

2013

2014

dbSNP:

rs315952

0.763

0.400

113132727

missense variant

T/A;C

snv

4.0E-06; 0.31

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

Lupus Erythematosus, Systemic

Skin and Connective Tissue Diseases; Immune System Diseases

0.020

0.500

2006

2013

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:

rs1630153

113112226

intron variant

C/G;T

snv

CUI:	C3815172
Disease:	Interleukin 1 Beta Measurement

Interleukin 1 Beta Measurement

0.700

1.000

2018

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:

rs2853628

113122715

intron variant

C/G;T

snv

CUI:	C3815172
Disease:	Interleukin 1 Beta Measurement

Interleukin 1 Beta Measurement

0.700

1.000

2018

dbSNP:

rs315927

113108792

intron variant

C/A;T

snv

CUI:	C3815172
Disease:	Interleukin 1 Beta Measurement

Interleukin 1 Beta Measurement

0.700

1.000

2018