DisGeNET - a database of gene-disease associations

Bile acid synthesis defect, congenital, 4, C1858328

Gene: C1QTNF3-AMACR ×

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

UniProt

Gene Full Name

Protein Class

N. diseases_g

DSI _g

DPI _g

pLI

Score _gda

EL _gda

EI _gda

N. PMIDs

N. SNPs _gda

First Ref.

Last Ref.

Entrez Id:	100534612
Gene Symbol:	C1QTNF3-AMACR

C1QTNF3-AMACR

C1QTNF3-AMACR readthrough (NMD candidate)

4

0.931

0.154

0.100

None

0

2