DisGeNET - a database of gene-disease associations

IFIH1, interferon induced with helicase C domain 1, 64135

N. diseases: 17; N. variants: 19

Source: CURATED ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1559810905

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C0751740
Disease:

Lenticulostriate Vasculopathy

0.700

CausalMutation

CLINVAR

An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.

30965144

2020

dbSNP:

rs1559810905

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C0151526
Disease:

Premature Birth

0.700

CausalMutation

CLINVAR

An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.

30965144

2020

dbSNP:

rs1559810905

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C0040034
Disease:

Thrombocytopenia

0.700

CausalMutation

CLINVAR

An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.

30965144

2020

dbSNP:

rs1559810905

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C1386048
Disease:

Intrauterine retardation

0.700

CausalMutation

CLINVAR

An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.

30965144

2020

dbSNP:

rs1559810905

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C0019214
Disease:

Hepatosplenomegaly

0.700

CausalMutation

CLINVAR

An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.

30965144

2020

dbSNP:

rs1559810905

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C3888244
Disease:

AICARDI-GOUTIERES SYNDROME 7

0.700

CausalMutation

CLINVAR

An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.

30965144

2020

dbSNP:

rs1559810905

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C0031256
Disease:

Petechiae

0.700

CausalMutation

CLINVAR

An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.

30965144

2020

dbSNP:

rs1559810905

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C2973725
Disease:

Pulmonary arterial hypertension

0.700

CausalMutation

CLINVAR

An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.

30965144

2020

dbSNP:

rs1559810905

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C0002871
Disease:

Anemia

0.700

CausalMutation

CLINVAR

An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.

30965144

2020

dbSNP:

rs376048533

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C3888244
Disease:

AICARDI-GOUTIERES SYNDROME 7

0.700

CausalMutation

CLINVAR

Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.

28319323

2017

dbSNP:

rs1990760

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C0162538
Disease:

Immunoglobulin A deficiency (disorder)

0.700

GeneticVariation

GWASCAT

Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.

27723758

2016

dbSNP:

rs35667974

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C0008313
Disease:

Cholangitis, Sclerosing

0.700

GeneticVariation

GWASCAT

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

26974007

2016

dbSNP:

rs35667974

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C0010346
Disease:

Crohn Disease

0.700

GeneticVariation

GWASCAT

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

26974007

2016

dbSNP:

rs35667974

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C0038013
Disease:

Ankylosing spondylitis

0.700

GeneticVariation

GWASCAT

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

26974007

2016

dbSNP:

rs35667974

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C0009324
Disease:

Ulcerative Colitis

0.700

GeneticVariation

GWASCAT

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

26974007

2016

dbSNP:

rs3747517

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C0010346
Disease:

Crohn Disease

0.700

GeneticVariation

GWASCAT

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

26974007

2016

dbSNP:

rs3747517

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C0009324
Disease:

Ulcerative Colitis

0.700

GeneticVariation

GWASCAT

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

26974007

2016

dbSNP:

rs3747517

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C0038013
Disease:

Ankylosing spondylitis

0.700

GeneticVariation

GWASCAT

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

26974007

2016

dbSNP:

rs3747517

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C0008313
Disease:

Cholangitis, Sclerosing

0.700

GeneticVariation

GWASCAT

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

26974007

2016

dbSNP:

rs72871627

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C0038013
Disease:

Ankylosing spondylitis

0.700

GeneticVariation

GWASCAT

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

26974007

2016

dbSNP:

rs72871627

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C0010346
Disease:

Crohn Disease

0.700

GeneticVariation

GWASCAT

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

26974007

2016

dbSNP:

rs72871627

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C0033860
Disease:

Psoriasis

0.700

GeneticVariation

GWASCAT

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

26974007

2016

dbSNP:

rs72871627

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C0008313
Disease:

Cholangitis, Sclerosing

0.700

GeneticVariation

GWASCAT

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

26974007

2016

dbSNP:

rs72871627

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C0009324
Disease:

Ulcerative Colitis

0.700

GeneticVariation

GWASCAT

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

26974007

2016

dbSNP:

rs1990760

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

CUI:	C0021390
Disease:

Inflammatory Bowel Diseases

0.700

GeneticVariation

GWASCAT

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

26192919

2015