DisGeNET - a database of gene-disease associations

rs139607673, UGT1A3;UGT1A8;UGT1A9;UGT1A10;UGT1A1;UGT1A5;UGT1A6;UGT1A4;UGT1A7

N. diseases: 2

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Crigler Najjar syndrome, type 2

CUI:	C2931132
Disease:	Crigler Najjar syndrome, type 2

27

0.925

0.080

2

233767858

missense variant

C/T

snv

8.0E-06; 4.0E-06

1.4E-05

0.700

1.000

1993

2013

Crigler Najjar syndrome, type 1

CUI:	C0010324
Disease:	Crigler Najjar syndrome, type 1

38

0.925

0.080

2

233767858

missense variant

C/T

snv

8.0E-06; 4.0E-06

1.4E-05

0.700