DisGeNET - a database of gene-disease associations

rs11209026, IL23R

N. diseases: 46

Disease: Granulomatosis, Orofacial ×

Source: ALL

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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

Granulomatosis, Orofacial

CUI:	C0399496
Disease:	Granulomatosis, Orofacial

0.010

GeneticVariation

BEFREE

NOD2 p.L1007insC was associated with OFG+CD (P = 0.023) and IL23R p.R381Q with all OFG (P = 0.031).

2016