DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Brachydactyly syndrome type C ×

Gene: GDF5 ×

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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:	8200
Gene Symbol:	GDF5

GDF5

CUI:	C1300268
Disease:	Brachydactyly syndrome type C

Brachydactyly syndrome type C

0.500

GermlineCausalMutation

ORPHANET

The mutational spectrum of brachydactyly type C.

12357473

2002

Entrez Id:	8200
Gene Symbol:	GDF5

GDF5

CUI:	C1300268
Disease:	Brachydactyly syndrome type C

Brachydactyly syndrome type C

0.500

Biomarker

MGD