DisGeNET - a database of gene-disease associations

C1orf112, chromosome 1 open reading frame 112, 55732

N. diseases: 8; N. variants: 22

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:

rs12122803

169825364

intron variant

A/G

snv

1.4E-02

CUI:	C1861172
Disease:	Venous Thromboembolism

Venous Thromboembolism

Cardiovascular Diseases

0.700

1.000

2019

dbSNP:

rs12132692

169763602

intron variant

C/T

snv

6.9E-02

CUI:	C1629609
Disease:	Age at menopause

Age at menopause

0.700

1.000

2019

dbSNP:

rs16862512

169680550

intron variant

T/C

snv

3.0E-03

CUI:	C0523953
Disease:	Cardiac troponin T measurement

Cardiac troponin T measurement

0.700

1.000

2019

dbSNP:

rs185120584

169689987

intron variant

C/T

snv

7.6E-03

CUI:	C1861172
Disease:	Venous Thromboembolism

Venous Thromboembolism

Cardiovascular Diseases

0.700

1.000

2019

dbSNP:

rs2223286

169696491

intron variant

T/C

snv

0.29

0.38

CUI:	C0200638
Disease:	Eosinophil count procedure

Eosinophil count procedure

0.700

1.000

2019

dbSNP:

rs4265482

169758741

intron variant

T/C

snv

0.31

CUI:	C2985280
Disease:	Blood Protein Measurement

Blood Protein Measurement

0.700

1.000

2018

dbSNP:

rs7531806

1.000

0.040

169681903

intron variant

G/A

snv

0.61

CUI:	C0001144
Disease:	Acne Vulgaris

Acne Vulgaris

Skin and Connective Tissue Diseases

0.700

1.000

2014

dbSNP:

rs10489177

0.925

0.120

169793666

missense variant

T/A;G

snv

4.1E-06; 0.19

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

Nervous System Diseases; Cardiovascular Diseases

0.010

1.000

2014

dbSNP:

rs10489177

0.925

0.120

169793666

missense variant

T/A;G

snv

4.1E-06; 0.19

CUI:	C0011849
Disease:	Diabetes Mellitus

Diabetes Mellitus

Nutritional and Metabolic Diseases; Endocrine System Diseases

0.010

1.000

2014

dbSNP:

rs10489177

0.925

0.120

169793666

missense variant

T/A;G

snv

4.1E-06; 0.19

CUI:	C0011847
Disease:	Diabetes

Diabetes

Endocrine System Diseases

0.010

1.000

2014

dbSNP:

rs10489177

0.925

0.120

169793666

missense variant

T/A;G

snv

4.1E-06; 0.19

CUI:	C0020538
Disease:	Hypertensive disease

Hypertensive disease

Cardiovascular Diseases

0.010

1.000

2014

dbSNP:

rs1131498

0.732

0.360

169707345

missense variant

A/G

snv

0.21

0.22

CUI:	C0027051
Disease:	Myocardial Infarction

Myocardial Infarction

Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases

0.010

1.000

2016

dbSNP:

rs1131498

0.732

0.360

169707345

missense variant

A/G

snv

0.21

0.22

CUI:	C0009324
Disease:	Ulcerative Colitis

Ulcerative Colitis

Digestive System Diseases

0.010

1.000

2009

dbSNP:

rs1131498

0.732

0.360

169707345

missense variant

A/G

snv

0.21

0.22

CUI:	C1956346
Disease:	Coronary Artery Disease

Coronary Artery Disease

Cardiovascular Diseases

0.010

1.000

2006

dbSNP:

rs1131498

0.732

0.360

169707345

missense variant

A/G

snv

0.21

0.22

CUI:	C0011854
Disease:	Diabetes Mellitus, Insulin-Dependent

Diabetes Mellitus, Insulin-Dependent

Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases

0.010

1.000

2000

dbSNP:

rs1131498

0.732

0.360

169707345

missense variant

A/G

snv

0.21

0.22

CUI:	C0010054
Disease:	Coronary Arteriosclerosis

Coronary Arteriosclerosis

Cardiovascular Diseases

0.010

1.000

2006

dbSNP:

rs1131498

0.732

0.360

169707345

missense variant

A/G

snv

0.21

0.22

CUI:	C0031099
Disease:	Periodontitis

Periodontitis

Stomatognathic Diseases

0.010

1.000

2009

dbSNP:

rs1131498

0.732

0.360

169707345

missense variant

A/G

snv

0.21

0.22

CUI:	C0011847
Disease:	Diabetes

Diabetes

Endocrine System Diseases

0.010

1.000

2000

dbSNP:

rs1131498

0.732

0.360

169707345

missense variant

A/G

snv

0.21

0.22

CUI:	C0041296
Disease:	Tuberculosis

Tuberculosis

Infections

0.010

< 0.001

2018

dbSNP:

rs1131498

0.732

0.360

169707345

missense variant

A/G

snv

0.21

0.22

CUI:	C0006309
Disease:	Brucellosis

Brucellosis

Infections

0.010

1.000

2006

dbSNP:

rs1131498

0.732

0.360

169707345

missense variant

A/G

snv

0.21

0.22

CUI:	C0004096
Disease:	Asthma

Asthma

Respiratory Tract Diseases; Immune System Diseases

0.010

1.000

2015

dbSNP:

rs1131498

0.732

0.360

169707345

missense variant

A/G

snv

0.21

0.22

CUI:	C0010068
Disease:	Coronary heart disease

Coronary heart disease

Cardiovascular Diseases

0.010

1.000

2006

dbSNP:

rs1131498

0.732

0.360

169707345

missense variant

A/G

snv

0.21

0.22

CUI:	C0007570
Disease:	Celiac Disease

Celiac Disease

Digestive System Diseases; Nutritional and Metabolic Diseases

0.010

1.000

2006

dbSNP:

rs1131498

0.732

0.360

169707345

missense variant

A/G

snv

0.21

0.22

CUI:	C0011849
Disease:	Diabetes Mellitus

Diabetes Mellitus

Nutritional and Metabolic Diseases; Endocrine System Diseases

0.010

1.000

2000

dbSNP:

rs12938

0.851

0.160

169691640

3 prime UTR variant

A/G

snv

0.27

CUI:	C0024138
Disease:	Lupus Erythematosus, Discoid

Lupus Erythematosus, Discoid

Skin and Connective Tissue Diseases

0.010

1.000

2005