DisGeNET - a database of gene-disease associations

HNRNPA1, heterogeneous nuclear ribonucleoprotein A1, 3178

N. diseases: 188; N. variants: 5

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:

rs397518453

Entrez Id:	3178
Gene Symbol:	HNRNPA1

HNRNPA1

CUI:	C3715156
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 20

0.800

GeneticVariation

UNIPROT

Whole-exome sequencing identifies a missense mutation in hnRNPA1 in a family with flail arm ALS.

27694260

2016

dbSNP:

rs397518454

Entrez Id:	3178
Gene Symbol:	HNRNPA1

HNRNPA1

CUI:	C3715156
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 20

0.800

GeneticVariation

UNIPROT

Whole-exome sequencing identifies a missense mutation in hnRNPA1 in a family with flail arm ALS.

27694260

2016

dbSNP:

rs397518452

Entrez Id:	3178
Gene Symbol:	HNRNPA1

HNRNPA1

CUI:	C3809469
Disease:

INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3

0.800

GeneticVariation

UNIPROT

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.

23455423

2013

dbSNP:

rs397518453

Entrez Id:	3178
Gene Symbol:	HNRNPA1

HNRNPA1

CUI:	C3715156
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 20

0.800

GeneticVariation

UNIPROT

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.

23455423

2013

dbSNP:

rs397518454

Entrez Id:	3178
Gene Symbol:	HNRNPA1

HNRNPA1

CUI:	C3715156
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 20

0.800

GeneticVariation

UNIPROT

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.

23455423

2013

dbSNP:

rs397518452

Entrez Id:	3178
Gene Symbol:	HNRNPA1

HNRNPA1

CUI:	C3809469
Disease:

INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3

0.800

CausalMutation

CLINVAR

dbSNP:

rs397518453

Entrez Id:	3178
Gene Symbol:	HNRNPA1

HNRNPA1

CUI:	C3715156
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 20

0.800

CausalMutation

CLINVAR

dbSNP:

rs397518454

Entrez Id:	3178
Gene Symbol:	HNRNPA1

HNRNPA1

CUI:	C3715156
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 20

0.800

CausalMutation

CLINVAR

dbSNP:

rs483353029

Entrez Id:	3178
Gene Symbol:	HNRNPA1

HNRNPA1

CUI:	C0002736
Disease:

Amyotrophic Lateral Sclerosis

0.010

GeneticVariation

BEFREE

Two novel heterozygous missense mutations in CCNF, p.S222P (c.664T>C) and p.S532R (c.1596C>T), were identified; 1 in each patient with apparently sporadic ALS.

29102476

2018

dbSNP:

rs397518452

Entrez Id:	3178
Gene Symbol:	HNRNPA1

HNRNPA1

CUI:	C0002736
Disease:

Amyotrophic Lateral Sclerosis

0.010

GeneticVariation

BEFREE

In addition, hnRNPA1 carrying the D262V missense mutation that causes ALS failed to bind WT ubiquilin-2.

25616961

2015

dbSNP:

rs7967622

Entrez Id:	3178
Gene Symbol:	HNRNPA1

HNRNPA1

CUI:	C0751072
Disease:

Frontotemporal Lobar Degeneration

0.010

GeneticVariation

BEFREE

According to these findings, hnRNP-A1 and its transcription regulatory factor miR-590-3p are disregulated in patients with AD, and the hnRNP-A1 rs7967622 C/C genotype is likely a risk factor for FTLD in male populations.

21548758

2011