rigidity Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. (Human Phenotype Ontology, HP_0002063)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002063
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Genes

56 genes associated with the rigidity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ACTA1 actin, alpha 1, skeletal muscle
ADAR adenosine deaminase, RNA-specific
ATP13A2 ATPase type 13A2
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
ATXN2 ataxin 2
ATXN3 ataxin 3
BRAT1 BRCA1-associated ATM activator 1
CHMP2B charged multivesicular body protein 2B
COASY CoA synthase
CP ceruloplasmin (ferroxidase)
CRYAB crystallin, alpha B
CSF1R colony stimulating factor 1 receptor
CTSD cathepsin D
DCTN1 dynactin 1
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6
EIF4G1 eukaryotic translation initiation factor 4 gamma, 1
FBXO7 F-box protein 7
FTL ferritin, light polypeptide
GBA glucosidase, beta, acid
GCDH glutaryl-CoA dehydrogenase
GCH1 GTP cyclohydrolase 1
GIGYF2 GRB10 interacting GYF protein 2
GJC2 gap junction protein, gamma 2, 47kDa
HTRA1 HtrA serine peptidase 1
HTRA2 HtrA serine peptidase 2
HTT huntingtin
ITM2B integral membrane protein 2B
JPH3 junctophilin 3
KCND3 potassium channel, voltage gated Shal related subfamily D, member 3
LDHA lactate dehydrogenase A
LRRK2 leucine-rich repeat kinase 2
MAPT microtubule-associated protein tau
MECP2 methyl CpG binding protein 2
PANK2 pantothenate kinase 2
PARK2 parkin RBR E3 ubiquitin protein ligase
PARK7 parkinson protein 7
PDE8B phosphodiesterase 8B
PINK1 PTEN induced putative kinase 1
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
POLG polymerase (DNA directed), gamma
PRNP prion protein
PTS 6-pyruvoyltetrahydropterin synthase
RYR1 ryanodine receptor 1 (skeletal)
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC30A10 solute carrier family 30, member 10
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SYNJ1 synaptojanin 1
TBP TATA box binding protein
TH tyrosine hydroxylase
TNNT1 troponin T type 1 (skeletal, slow)
TUBB4A tubulin, beta 4A class IVa
VPS35 vacuolar protein sorting 35 homolog (S. cerevisiae)
WDR45 WD repeat domain 45