DisGeNET - a database of gene-disease associations

Source: BEFREE

Disease: Agenesis ×

Gene: ANTXR1 ×

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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

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	84168
Gene Symbol:	ANTXR1

ANTXR1

CUI:	C0000846
Disease:	Agenesis

Agenesis

0.010

GeneticVariation

BEFREE

A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.

2018