DisGeNET - a database of gene-disease associations

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5, C4310747

Source: ALL

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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

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:	9971
Gene Symbol:	NR1H4

NR1H4

Q96RI1

nuclear receptor subfamily 1 group H member 4

Nuclear receptor

187

0.513

0.808

9.4E-04

0.700

strong

1.000

1

2

2016

2016