DisGeNET - a database of gene-disease associations

SPINK5, serine peptidase inhibitor Kazal type 5, 11005

N. diseases: 93; N. variants: 29

Disease: Ichthyosis linearis circumflexa ×

Variant: rs1561686960 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1561686960

rs1561686960

Entrez Id:	11005
Gene Symbol:	SPINK5

SPINK5

CUI:	C0265962
Disease:

Ichthyosis linearis circumflexa

A

0.700

CausalMutation

CLINVAR