DisGeNET - a database of gene-disease associations

rs1127354, ITPA

N. diseases: 3

Disease: Inosine Triphosphatase Deficiency ×

Source: CURATED ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Inosine Triphosphatase Deficiency

CUI:	C0342800
Disease:	Inosine Triphosphatase Deficiency

0.700

GeneticVariation

UNIPROT