DisGeNET - a database of gene-disease associations

DNAJC21, DnaJ heat shock protein family (Hsp40) member C21, 134218

N. diseases: 101; N. variants: 7

Disease: Inherited bone marrow failure syndrome ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs150576702

0.925

0.120

34937404

stop gained

C/T

snv

1.2E-05

7.0E-06

CUI:	C2986691
Disease:	Inherited bone marrow failure syndrome

Inherited bone marrow failure syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases

0.700

1.000

2016

dbSNP:

rs770282904

0.925

0.120

34938907

stop gained

G/C;T

snv

1.2E-05; 4.0E-06

CUI:	C2986691
Disease:	Inherited bone marrow failure syndrome

Inherited bone marrow failure syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases

0.700

1.000

2016

dbSNP:

rs879253818

0.925

0.120

34929913

missense variant

C/G

snv

CUI:	C2986691
Disease:	Inherited bone marrow failure syndrome

Inherited bone marrow failure syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases

0.700

1.000

2016