DisGeNET - a database of gene-disease associations

CREB3L1, cAMP responsive element binding protein 3 like 1, 90993

N. diseases: 88; N. variants: 12

Disease: OSTEOGENESIS IMPERFECTA, TYPE XVI ×

Variant: rs779809838 ×

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

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs779809838

rs779809838

Entrez Id:	90993
Gene Symbol:	CREB3L1

CREB3L1

CUI:	C4015610
Disease:

OSTEOGENESIS IMPERFECTA, TYPE XVI

A

0.700

CausalMutation

CLINVAR