DisGeNET - a database of gene-disease associations

Congenital dyserythropoietic anemia, type I, C0271933

Variant: rs138334226 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs138334226

CDAN1

0.700

GeneticVariation

CLINVAR

Clinical and genetic features of congenital dyserythropoietic anemia (CDA).

29901818

2018

dbSNP:

rs138334226

CDAN1

0.700

GeneticVariation

CLINVAR

Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation.

16141353

2006

dbSNP:

rs138334226

CDAN1

0.700

GeneticVariation

CLINVAR

Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I.

16754775

2006