hip contracture Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Permanent fixation of the hip in primary positions, with limited passive or active motion at the hip joint. (Human Phenotype Ontology, HP_0003273)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003273
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Genes

16 genes associated with the hip contracture phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
BICD2 bicaudal D homolog 2 (Drosophila)
COL2A1 collagen, type II, alpha 1
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FBN2 fibrillin 2
HSPG2 heparan sulfate proteoglycan 2
KAT6B K(lysine) acetyltransferase 6B
MMP2 matrix metallopeptidase 2
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
PTH1R parathyroid hormone 1 receptor
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SPEG SPEG complex locus
TNNT1 troponin T type 1 (skeletal, slow)
TPM2 tropomyosin 2 (beta)
TRPV4 transient receptor potential cation channel, subfamily V, member 4
ZBTB20 zinc finger and BTB domain containing 20