DisGeNET - a database of gene-disease associations

SPINK5, serine peptidase inhibitor Kazal type 5, 11005

N. diseases: 93; N. variants: 29

Disease: Failure to Thrive ×

Source: ALL

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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:	C0015544
Disease:	Failure to Thrive

Failure to Thrive

0.110

GeneticVariation

disease

BEFREE

Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.

15942217

2005

CUI:	C0015544
Disease:	Failure to Thrive

Failure to Thrive

0.110

Biomarker

disease

HPO