DisGeNET - a database of gene-disease associations

Source: ALL

Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 ×

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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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	124583
Gene Symbol:	CANT1

CANT1

calcium activated nucleotidase 1

0.619

0.731

2.5E-06

CUI:	C4540251
Disease:	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7

EPIPHYSEAL DYSPLASIA, MULTIPLE, 7

disease

0.600

strong

1.000

2017

2017