The GDF5 gene homepage

General information
Gene symbol GDF5
Gene name growth differentiation factor 5
Chromosome 20
Chromosomal band q11.2
Imprinted Unknown
Genomic reference NG_008076.3
Transcript reference NM_000557.2
Associated with diseases AMD, AMD2A, AMD2B, AMD2C, BDA1C, BDA2, BDC, OS5, SYM, SYM1B, SYNS2
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 28
Unique public DNA variants reported 24
Individuals with public variants 76
Hidden variants 4
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated September 17, 2021
Version GDF5:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 4220
Entrez Gene 8200
PubMed articles GDF5
OMIM - Gene 601146
OMIM - Diseases AMD2A (dysplasia, acromesomelic, type 2A, Grebe)
AMD2B (dysplasia, acromesomelic, type 2B, Du Pan syndrome)
AMD2C (dysplasia, acromesomelic, type 2C, Hunter-Thompson)
BDA1C (brachydactyly, type A1, C (BD-A1C))
BDA2 (brachydactyly, type A2 (BD-A2))
BDC (brachydactyly, type C (BD-C))
OS5 (sosteoarthritis, susceptibility 5 (OS-5))
SYM1B (symphalangism, proximal, type 1B (SYM1B))
SYNS2 (synostoses syndrome, multiple, type 2 (SYNS-2))
GeneCards GDF5
GeneTests GDF5
Orphanet GDF5

Active transcripts




NCBI ID     

NCBI Protein ID     

00008433 20 growth differentiation factor 5 NM_000557.2 NP_000548.1 28

Copyright & disclaimer
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