DisGeNET - a database of gene-disease associations

OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO, C4085248

Gene: MET ×

Source: CURATED ×

Results per page

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	4233
Gene Symbol:	MET

MET

0.300

GermlineCausalMutation

phenotype

ORPHANET

Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia.

26637977

2015

Entrez Id:	4233
Gene Symbol:	MET

MET

0.300

GermlineCausalMutation

phenotype

ORPHANET

Bilateral osteofibrous dysplasia: a report of two cases and review of the literature.

9234973

1997

Entrez Id:	4233
Gene Symbol:	MET

MET

0.300

GermlineCausalMutation

phenotype

ORPHANET

Osteofibrous dysplasia: clinicopathologic study of 80 cases.

8276381

1993

Entrez Id:	4233
Gene Symbol:	MET

MET

0.300

GermlineCausalMutation

phenotype

ORPHANET

Familial congenital bowing of the tibia with pseudarthrosis and pectus excavatum: report of a kindred.

1270474

1976