DisGeNET - a database of gene-disease associations

Pyle metaphyseal dysplasia, C0265294

Gene: EXTL3 ×

Source: ALL

Results per page

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	2137
Gene Symbol:	EXTL3

EXTL3

0.110

GeneticVariation

disease

BEFREE

Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.

2017

Entrez Id:	2137
Gene Symbol:	EXTL3

EXTL3

0.110

Biomarker

disease

HPO