tetraplegia/tetraparesis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength. (Human Phenotype Ontology, HP_0030182)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0030182
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Genes

22 genes associated with the tetraplegia/tetraparesis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
ARSA arylsulfatase A
ARX aristaless related homeobox
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
BCAP31 B-cell receptor-associated protein 31
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C9ORF72 chromosome 9 open reading frame 72
COL4A1 collagen, type IV, alpha 1
DPYD dihydropyrimidine dehydrogenase
GBE1 glucan (1,4-alpha-), branching enzyme 1
GJA1 gap junction protein, alpha 1, 43kDa
KCNT1 potassium channel, sodium activated subfamily T, member 1
PNP purine nucleoside phosphorylase
PRF1 perforin 1 (pore forming protein)
PRPS1 phosphoribosyl pyrophosphate synthetase 1
RANBP2 RAN binding protein 2
SQSTM1 sequestosome 1
TFG TRK-fused gene
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator