metaphyseal dysplasia Gene Set
Genes
8 genes associated with the metaphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
COL10A1
|
collagen, type X, alpha 1
|
|
NEK1
|
NIMA-related kinase 1
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RUNX2
|
runt-related transcription factor 2
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
TMEM165
|
transmembrane protein 165
|
