DisGeNET - a database of gene-disease associations

SPARC, secreted protein acidic and cysteine rich, 6678

N. diseases: 344; N. variants: 13

Disease: OSTEOGENESIS IMPERFECTA, TYPE XVII ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1057517662

rs1057517662

1.000

5

151667555

missense variant

C/T

snv

4.0E-06

7.0E-06

CUI:	C4225301
Disease:	OSTEOGENESIS IMPERFECTA, TYPE XVII

OSTEOGENESIS IMPERFECTA, TYPE XVII

0.800

dbSNP:

rs1057517663

rs1057517663

1.000

5

151664183

missense variant

C/T

snv

CUI:	C4225301
Disease:	OSTEOGENESIS IMPERFECTA, TYPE XVII

OSTEOGENESIS IMPERFECTA, TYPE XVII

0.800