DisGeNET - a database of gene-disease associations

EPB41, erythrocyte membrane protein band 4.1, 2035

N. diseases: 37; N. variants: 5

Disease: Elliptocytosis 1 ×

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:	C2678497
Disease:	Elliptocytosis 1

Elliptocytosis 1

0.600

Biomarker

disease

GENOMICS_ENGLAND

Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene.

1430200

1992

CUI:	C2678497
Disease:	Elliptocytosis 1

Elliptocytosis 1

0.600

Biomarker

disease

GENOMICS_ENGLAND

Distinct variants of erythrocyte protein 4.1 inherited in linkage with elliptocytosis and Rh type in three white families.

3134067

1988

CUI:	C2678497
Disease:	Elliptocytosis 1

Elliptocytosis 1

0.600

CausalMutation

disease

CLINVAR

CUI:	C2678497
Disease:	Elliptocytosis 1

Elliptocytosis 1

0.600

Biomarker

disease

CTD_human