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:

rs77103971

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

RNASEH2A;HOOK2

CUI:	C0393591
Disease:

AICARDI-GOUTIERES SYNDROME

0.700

GeneticVariation

CLINVAR

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:	C0393591
Disease:

AICARDI-GOUTIERES SYNDROME

0.700

GeneticVariation

CLINVAR

Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome.

21454563

2011

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

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:

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:

rs76857106

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

RNASEH2A;HOOK2

CUI:	C0004364
Disease:

Autoimmune Diseases

0.010

GeneticVariation

BEFREE

We believe that the G37S knock-in mouse provides an excellent animal model for studying RNASEH2-associated autoimmune diseases.

26880576

2016

dbSNP:

rs76857106

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

RNASEH2A;HOOK2

CUI:	C0312414
Disease:

Menstrual spotting

0.010

GeneticVariation

BEFREE

Ablation of STING in the G37S mice results in partial rescue of the perinatal lethality, with viable mice exhibiting white spotting on their ventral surface.

26880576

2016

dbSNP:

rs1055679036

Entrez Id:	7001;10535;29911
Gene Symbol:	PRDX2;RNASEH2A;HOOK2

PRDX2;RNASEH2A;HOOK2

CUI:	C0017495
Disease:

Gerstmann-Straussler-Scheinker Disease

0.020

GeneticVariation

BEFREE

A 16 kDa thermolysin-resistant signature was also found in GSS patients with P102L, A117V, H187R and F198S alleles and has coordinates similar to GSS stop codon mutations.

29338055

2018

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:

rs1055679036

Entrez Id:	7001;10535;29911
Gene Symbol:	PRDX2;RNASEH2A;HOOK2

PRDX2;RNASEH2A;HOOK2

CUI:	C0017495
Disease:

Gerstmann-Straussler-Scheinker Disease

0.020

GeneticVariation

BEFREE

Here we have performed systematic studies of purified resPrPD species extracted from GSS cases with the A117V (GSSA117V) and F198S (GSSF198S) PrP gene mutations.

31142381

2019