DisGeNET - a database of gene-disease associations

rs1566863801, TRIP11

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.

Spondylometaphyseal dysplasia with dentinogenesis imperfecta

CUI:	C2745953
Disease:	Spondylometaphyseal dysplasia with dentinogenesis imperfecta

7

1.000

0.120

14

92011072

missense variant

C/A

snv

0.700

1.000

2019

2019

Osteochondrodysplasias

CUI:	C0029422
Disease:	Osteochondrodysplasias

26

1.000

0.120

14

92011072

missense variant

C/A

snv

0.700