DisGeNET - a database of gene-disease associations

DNAJB2, DnaJ heat shock protein family (Hsp40) member B2, 3300

N. diseases: 25; N. variants: 8

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:

rs730882140

Entrez Id:	3300
Gene Symbol:	DNAJB2

DNAJB2

CUI:	C3553989
Disease:

SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5

0.800

CausalMutation

CLINVAR

dbSNP:

rs730882140

Entrez Id:	3300
Gene Symbol:	DNAJB2

DNAJB2

CUI:	C3553989
Disease:

SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5

0.800

GeneticVariation

UNIPROT

dbSNP:

rs756614404

Entrez Id:	3300
Gene Symbol:	DNAJB2

DNAJB2

CUI:	C3553989
Disease:

SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5

0.700

CausalMutation

CLINVAR

Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation.

27083531

2016

dbSNP:

rs797045039

Entrez Id:	3300
Gene Symbol:	DNAJB2

DNAJB2

CUI:	C4015635
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T

0.700

CausalMutation

CLINVAR

Molecular diagnostic experience of whole-exome sequencing in adult patients.

26633545

2016

dbSNP:

rs764813110

Entrez Id:	3300
Gene Symbol:	DNAJB2

DNAJB2

CUI:	C3553989
Disease:

SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5

0.700

CausalMutation

CLINVAR

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

26257172

2015

dbSNP:

rs879253868

Entrez Id:	3300
Gene Symbol:	DNAJB2

DNAJB2

CUI:	C3553989
Disease:

SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5

0.700

GeneticVariation

CLINVAR

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

26257172

2015

dbSNP:

rs369661561

Entrez Id:	3300
Gene Symbol:	DNAJB2

DNAJB2

CUI:	C3553989
Disease:

SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5

0.700

GeneticVariation

CLINVAR

HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.

25274842

2014

dbSNP:

rs369661561

Entrez Id:	3300
Gene Symbol:	DNAJB2

DNAJB2

CUI:	C3553989
Disease:

SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5

0.700

GeneticVariation

CLINVAR

A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation.

22522442

2012

dbSNP:

rs756614404

Entrez Id:	3300
Gene Symbol:	DNAJB2

DNAJB2

CUI:	C3553989
Disease:

SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5

0.700

CausalMutation

CLINVAR

A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation.

22522442

2012

dbSNP:

rs730882139

Entrez Id:	3300
Gene Symbol:	DNAJB2

DNAJB2

CUI:	C3553989
Disease:

SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5

0.700

CausalMutation

CLINVAR

dbSNP:

rs730882139

Entrez Id:	3300
Gene Symbol:	DNAJB2

DNAJB2

CUI:	C0007959
Disease:

Charcot-Marie-Tooth Disease

0.700

CausalMutation

CLINVAR

dbSNP:

rs730882140

Entrez Id:	3300
Gene Symbol:	DNAJB2

DNAJB2

CUI:	C0007959
Disease:

Charcot-Marie-Tooth Disease

0.700

CausalMutation

CLINVAR

dbSNP:

rs758322672

Entrez Id:	3300
Gene Symbol:	DNAJB2

DNAJB2

CUI:	C3553989
Disease:

SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5

0.700

GeneticVariation

CLINVAR