ankle contracture Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle. (Human Phenotype Ontology, HP_0006466)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0006466
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Genes

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

Symbol Name
C19ORF12 chromosome 19 open reading frame 12
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNA filamin A, alpha
MMP2 matrix metallopeptidase 2