limited elbow extension Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Limited ability to straighten the arm at the elbow joint. (Human Phenotype Ontology, HP_0001377)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001377
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Genes

22 genes associated with the limited elbow extension phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATP7A ATPase, Cu++ transporting, alpha polypeptide
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCF1 cardiotrophin-like cytokine factor 1
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
CRLF1 cytokine receptor-like factor 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
GPC6 glypican 6
HDAC8 histone deacetylase 8
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
LMX1B LIM homeobox transcription factor 1, beta
MATN3 matrilin 3
MMP13 matrix metallopeptidase 13
NIPBL Nipped-B homolog (Drosophila)
NPR2 natriuretic peptide receptor 2
PCNT pericentrin
RMRP RNA component of mitochondrial RNA processing endoribonuclease
SF3B4 splicing factor 3b, subunit 4, 49kDa
SLC26A2 solute carrier family 26 (anion exchanger), member 2