distal arthrogryposis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A muscle tissue disease characterized by congenital joint contractures of hand and feet. (Human Disease Ontology, DOID_0050646)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005684
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Genes

9 genes associated with the distal arthrogryposis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
FIG4 FIG4 phosphoinositide 5-phosphatase
MYBPC1 myosin binding protein C, slow type
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
PIEZO2 piezo-type mechanosensitive ion channel component 2
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TPM2 tropomyosin 2 (beta)