Aliases: CDMP1, BMP14.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Acromesomelic Dysplasia Grebe Type | causative germline |
mechanism: Biallelic GDF5 Mature-Domain Variants; Failed Secretion of GDF5 and Dominant-Negative Sequestration of BMP Partners; Loss of GDF5-BMPR1B Signaling in the Developing Limb
subtype: Grebe; Hunter-Thompson
|
| Brachydactyly Type A2 | causative germline |
mechanism: Defective proGDF5 Processing
|
| Brachydactyly Type C | causative germline loss of function |
mechanism: GDF5 Functional Haploinsufficiency
|
| Du Pan Syndrome | causative germline |
mechanism: Biallelic Hypomorphic Variants in GDF5 or BMPR1B
|
| Brachydactyly Type A1 |
untyped
CAUSAL
|
mechanism: Reduced GDF5-BMPR1B Signaling
|
| Humeroradial Synostosis |
untyped
Causative
|
|
| Multiple Synostoses Syndrome |
untyped
Causative
|
mechanism: BMP Signaling Dysregulation
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.