DisGeNET - a database of gene-disease associations

Bile Acid Synthesis Defect, Congenital, 3, C3151147

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:	9420
Gene Symbol:	CYP7B1

CYP7B1

O75881

cytochrome P450 family 7 subfamily B member 1

Enzyme

141

0.563

0.692

3.3E-06

0.700

None

1.000

2

1

1998

2020

Entrez Id:	1581
Gene Symbol:	CYP7A1

CYP7A1

P22680

cytochrome P450 family 7 subfamily A member 1

Enzyme

91

0.576

0.615

2.5E-04

0.300

limited

1.000

1

0

1998

1998