genu recurvatum Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormally increased extension of the knee joint, so that the knee can bend backwards. (Human Phenotype Ontology, HP_0002816)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002816
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Genes

18 genes associated with the genu recurvatum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AP4B1 adaptor-related protein complex 4, beta 1 subunit
CANT1 calcium activated nucleotidase 1
CDT1 chromatin licensing and DNA replication factor 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COMP cartilage oligomeric matrix protein
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
FBN1 fibrillin 1
FGD1 FYVE, RhoGEF and PH domain containing 1
HRAS Harvey rat sarcoma viral oncogene homolog
KRAS Kirsten rat sarcoma viral oncogene homolog
MCOLN1 mucolipin 1
PTEN phosphatase and tensin homolog
SH3PXD2B SH3 and PX domains 2B
SKI SKI proto-oncogene
XYLT1 xylosyltransferase I