DisGeNET - a database of gene-disease associations

SPINK1, serine peptidase inhibitor Kazal type 1, 6690

N. diseases: 216; N. variants: 15

Disease: Adrenoleukodystrophy ×

Variant: rs111966833 ×

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:

rs111966833

rs111966833

Entrez Id:	6690
Gene Symbol:	SPINK1

SPINK1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.010

GeneticVariation

BEFREE

In five other patients (two with ACP and three with ALD) other rare variants, including P55S, were found.

2003