DisGeNET - a database of gene-disease associations

Hereditary C1 esterase inhibitor deficiency - dysfunctional factor, C0398776

The Variant filter does not apply in GDA tabs

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

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	710
Gene Symbol:	SERPING1

SERPING1

0.400

GermlineCausalMutation

disease

ORPHANET

Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations.

2014

Entrez Id:	710
Gene Symbol:	SERPING1

SERPING1

0.400

CausalMutation

disease

CLINVAR