DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc ×

Gene: SLC30A2 ×

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:

rs587776926

SLC30A2

CUI:	C1842486
Disease:	Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc

Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc

0.820

GeneticVariation

UNIPROT

A dominant negative heterozygous G87R mutation in the zinc transporter, ZnT-2 (SLC30A2), results in transient neonatal zinc deficiency.

22733820

2012

dbSNP:

rs587776926

SLC30A2

CUI:	C1842486
Disease:	Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc

Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc

0.820

GeneticVariation

UNIPROT

Identification of a mutation in SLC30A2 (ZnT-2) in women with low milk zinc concentration that results in transient neonatal zinc deficiency.

17065149

2006

dbSNP:

rs185398527

SLC30A2

CUI:	C1842486
Disease:	Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc

Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc

0.720

GeneticVariation

UNIPROT