tetraparesis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Weakness of all four limbs. (Human Phenotype Ontology, HP_0002273)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002273
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Genes

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

Symbol Name
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C9ORF72 chromosome 9 open reading frame 72
COL4A1 collagen, type IV, alpha 1
GBE1 glucan (1,4-alpha-), branching enzyme 1
GJA1 gap junction protein, alpha 1, 43kDa
PNP purine nucleoside phosphorylase
SQSTM1 sequestosome 1
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator