DisGeNET - a database of gene-disease associations

RNASEH2A, ribonuclease H2 subunit A, 10535

N. diseases: 116; N. variants: 18

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

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs75037667

Entrez Id:	10535;29911
Gene Symbol:	RNASEH2A;HOOK2

RNASEH2A;HOOK2

CUI:	C1835912
Disease:

AICARDI-GOUTIERES SYNDROME 4

0.800

GeneticVariation

UNIPROT

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

20131292

2010

dbSNP:

rs76436818

Entrez Id:	10535;29911
Gene Symbol:	RNASEH2A;HOOK2

RNASEH2A;HOOK2

CUI:	C1835912
Disease:

AICARDI-GOUTIERES SYNDROME 4

0.800

GeneticVariation

UNIPROT

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

20131292

2010

dbSNP:

rs76857106

Entrez Id:	10535;29911
Gene Symbol:	RNASEH2A;HOOK2

RNASEH2A;HOOK2

CUI:	C1835912
Disease:

AICARDI-GOUTIERES SYNDROME 4

0.800

GeneticVariation

UNIPROT

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

20131292

2010

dbSNP:

rs77103971

Entrez Id:	10535;29911
Gene Symbol:	RNASEH2A;HOOK2

RNASEH2A;HOOK2

CUI:	C1835912
Disease:

AICARDI-GOUTIERES SYNDROME 4

0.800

GeneticVariation

UNIPROT

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

20131292

2010

dbSNP:

rs79767407

Entrez Id:	10535;29911
Gene Symbol:	RNASEH2A;HOOK2

RNASEH2A;HOOK2

CUI:	C1835912
Disease:

AICARDI-GOUTIERES SYNDROME 4

0.800

GeneticVariation

UNIPROT

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

20131292

2010

dbSNP:

rs75037667

Entrez Id:	10535;29911
Gene Symbol:	RNASEH2A;HOOK2

RNASEH2A;HOOK2

CUI:	C1835912
Disease:

AICARDI-GOUTIERES SYNDROME 4

0.800

GeneticVariation

UNIPROT

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

17846997

2007

dbSNP:

rs76436818

Entrez Id:	10535;29911
Gene Symbol:	RNASEH2A;HOOK2

RNASEH2A;HOOK2

CUI:	C1835912
Disease:

AICARDI-GOUTIERES SYNDROME 4

0.800

GeneticVariation

UNIPROT

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

17846997

2007

dbSNP:

rs76857106

Entrez Id:	10535;29911
Gene Symbol:	RNASEH2A;HOOK2

RNASEH2A;HOOK2

CUI:	C1835912
Disease:

AICARDI-GOUTIERES SYNDROME 4

0.800

GeneticVariation

UNIPROT

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

17846997

2007

dbSNP:

rs77103971

Entrez Id:	10535;29911
Gene Symbol:	RNASEH2A;HOOK2

RNASEH2A;HOOK2

CUI:	C1835912
Disease:

AICARDI-GOUTIERES SYNDROME 4

0.800

GeneticVariation

UNIPROT

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

17846997

2007

dbSNP:

rs79767407

Entrez Id:	10535;29911
Gene Symbol:	RNASEH2A;HOOK2

RNASEH2A;HOOK2

CUI:	C1835912
Disease:

AICARDI-GOUTIERES SYNDROME 4

0.800

GeneticVariation

UNIPROT

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

17846997

2007

dbSNP:

rs75037667

Entrez Id:	10535;29911
Gene Symbol:	RNASEH2A;HOOK2

RNASEH2A;HOOK2

CUI:	C1835912
Disease:

AICARDI-GOUTIERES SYNDROME 4

0.800

GeneticVariation

UNIPROT

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

16845400

2006

dbSNP:

rs76436818

Entrez Id:	10535;29911
Gene Symbol:	RNASEH2A;HOOK2

RNASEH2A;HOOK2

CUI:	C1835912
Disease:

AICARDI-GOUTIERES SYNDROME 4

0.800

GeneticVariation

UNIPROT

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

16845400

2006

dbSNP:

rs76857106

Entrez Id:	10535;29911
Gene Symbol:	RNASEH2A;HOOK2

RNASEH2A;HOOK2

CUI:	C1835912
Disease:

AICARDI-GOUTIERES SYNDROME 4

0.800

GeneticVariation

UNIPROT

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

16845400

2006

dbSNP:

rs77103971

Entrez Id:	10535;29911
Gene Symbol:	RNASEH2A;HOOK2

RNASEH2A;HOOK2

CUI:	C1835912
Disease:

AICARDI-GOUTIERES SYNDROME 4

0.800

GeneticVariation

UNIPROT

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

16845400

2006

dbSNP:

rs79767407

Entrez Id:	10535;29911
Gene Symbol:	RNASEH2A;HOOK2

RNASEH2A;HOOK2

CUI:	C1835912
Disease:

AICARDI-GOUTIERES SYNDROME 4

0.800

GeneticVariation

UNIPROT

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

16845400

2006

dbSNP:

rs75037667

Entrez Id:	10535;29911
Gene Symbol:	RNASEH2A;HOOK2

RNASEH2A;HOOK2

CUI:	C1835912
Disease:

AICARDI-GOUTIERES SYNDROME 4

0.800

CausalMutation

CLINVAR

dbSNP:

rs76436818

Entrez Id:	10535;29911
Gene Symbol:	RNASEH2A;HOOK2

RNASEH2A;HOOK2

CUI:	C1835912
Disease:

AICARDI-GOUTIERES SYNDROME 4

0.800

CausalMutation

CLINVAR

dbSNP:

rs76857106

Entrez Id:	10535;29911
Gene Symbol:	RNASEH2A;HOOK2

RNASEH2A;HOOK2

CUI:	C1835912
Disease:

AICARDI-GOUTIERES SYNDROME 4

0.800

CausalMutation

CLINVAR

dbSNP:

rs77103971

Entrez Id:	10535;29911
Gene Symbol:	RNASEH2A;HOOK2

RNASEH2A;HOOK2

CUI:	C1835912
Disease:

AICARDI-GOUTIERES SYNDROME 4

0.800

CausalMutation

CLINVAR

dbSNP:

rs79767407

Entrez Id:	10535;29911
Gene Symbol:	RNASEH2A;HOOK2

RNASEH2A;HOOK2

CUI:	C1835912
Disease:

AICARDI-GOUTIERES SYNDROME 4

0.800

CausalMutation

CLINVAR

dbSNP:

rs3786712

Entrez Id:	10535;29911
Gene Symbol:	RNASEH2A;HOOK2

RNASEH2A;HOOK2

CUI:	C0596887
Disease:

mathematical ability

0.700

GeneticVariation

GWASCAT

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

30038396

2018

dbSNP:

rs4804732

Entrez Id:	10535;29911
Gene Symbol:	RNASEH2A;HOOK2

RNASEH2A;HOOK2

CUI:	C0596887
Disease:

mathematical ability

0.700

GeneticVariation

GWASCAT

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

30038396

2018

dbSNP:

rs13345720

Entrez Id:	10535;29911
Gene Symbol:	RNASEH2A;HOOK2

RNASEH2A;HOOK2

CUI:	C0024117
Disease:

Chronic Obstructive Airway Disease

0.700

GeneticVariation

GWASCAT

A genome-wide analysis of the response to inhaled β2-agonists in chronic obstructive pulmonary disease.

26503814

2016

dbSNP:

rs549586181

Entrez Id:	10535;29911
Gene Symbol:	RNASEH2A;HOOK2

RNASEH2A;HOOK2

CUI:	C1835912
Disease:

AICARDI-GOUTIERES SYNDROME 4

0.700

CausalMutation

CLINVAR

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

24183309

2013

dbSNP:

rs77103971

Entrez Id:	10535;29911
Gene Symbol:	RNASEH2A;HOOK2

RNASEH2A;HOOK2

CUI:	C0393591
Disease:

AICARDI-GOUTIERES SYNDROME

0.700

GeneticVariation

CLINVAR

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

23592335

2013