DisGeNET - a database of gene-disease associations

Source: ALL

Disease: OSTEOGENESIS IMPERFECTA, TYPE XVII ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	6678
Gene Symbol:	SPARC

SPARC

CUI:	C4225301
Disease:	OSTEOGENESIS IMPERFECTA, TYPE XVII

OSTEOGENESIS IMPERFECTA, TYPE XVII

0.700

GeneticVariation

UNIPROT

Recessive osteogenesis imperfecta caused by missense mutations in SPARC.

26027498

2015

Entrez Id:	6678
Gene Symbol:	SPARC

SPARC

CUI:	C4225301
Disease:	OSTEOGENESIS IMPERFECTA, TYPE XVII

OSTEOGENESIS IMPERFECTA, TYPE XVII

0.700

Biomarker

GENOMICS_ENGLAND

Recessive osteogenesis imperfecta caused by missense mutations in SPARC.

26027498

2015

Entrez Id:	6678
Gene Symbol:	SPARC

SPARC

CUI:	C4225301
Disease:	OSTEOGENESIS IMPERFECTA, TYPE XVII

OSTEOGENESIS IMPERFECTA, TYPE XVII

0.700

Biomarker

GENOMICS_ENGLAND

Recessive osteogenesis imperfecta caused by missense mutations in SPARC.

26027498

2015

Entrez Id:	6678
Gene Symbol:	SPARC

SPARC

CUI:	C4225301
Disease:	OSTEOGENESIS IMPERFECTA, TYPE XVII

OSTEOGENESIS IMPERFECTA, TYPE XVII

0.700

CausalMutation

CLINVAR

Entrez Id:	6678
Gene Symbol:	SPARC

SPARC

CUI:	C4225301
Disease:	OSTEOGENESIS IMPERFECTA, TYPE XVII

OSTEOGENESIS IMPERFECTA, TYPE XVII

0.700

Biomarker

CTD_human