knee flexion contracture Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A bent (flexed) knee joint that cannot be straightened actively or passively. (Human Phenotype Ontology, HP_0006380)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0006380
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Genes

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

Symbol Name
BAG3 BCL2-associated athanogene 3
BICD2 bicaudal D homolog 2 (Drosophila)
C19ORF12 chromosome 19 open reading frame 12
CPT2 carnitine palmitoyltransferase 2
DDR2 discoidin domain receptor tyrosine kinase 2
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
ERCC6 excision repair cross-complementation group 6
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FBN2 fibrillin 2
FLNA filamin A, alpha
GJB2 gap junction protein, beta 2, 26kDa
KAT6B K(lysine) acetyltransferase 6B
LIFR leukemia inhibitory factor receptor alpha
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PTDSS1 phosphatidylserine synthase 1
PTH1R parathyroid hormone 1 receptor
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
SCARF2 scavenger receptor class F, member 2
SRD5A3 steroid 5 alpha-reductase 3
TPM2 tropomyosin 2 (beta)
TRPV4 transient receptor potential cation channel, subfamily V, member 4
ZBTB20 zinc finger and BTB domain containing 20