DisGeNET - a database of gene-disease associations

HSPA9, heat shock protein family A (Hsp70) member 9, 3313

N. diseases: 198; N. variants: 7

Disease: ANEMIA, SIDEROBLASTIC, 4 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C4225428
Disease:	ANEMIA, SIDEROBLASTIC, 4

ANEMIA, SIDEROBLASTIC, 4

0.600

Biomarker

disease

GENOMICS_ENGLAND

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.

26491070

2015

CUI:	C4225428
Disease:	ANEMIA, SIDEROBLASTIC, 4

ANEMIA, SIDEROBLASTIC, 4

0.600

GeneticVariation

disease

UNIPROT

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.

26491070

2015

CUI:	C4225428
Disease:	ANEMIA, SIDEROBLASTIC, 4

ANEMIA, SIDEROBLASTIC, 4

0.600

CausalMutation

disease

CLINVAR

CUI:	C4225428
Disease:	ANEMIA, SIDEROBLASTIC, 4

ANEMIA, SIDEROBLASTIC, 4

0.600

Biomarker

disease

GENOMICS_ENGLAND