paraparesis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Weakness or partial paralysis in the lower limbs. (Human Phenotype Ontology, HP_0002385)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002385
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Genes

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

Symbol Name
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
AFG3L2 AFG3-like AAA ATPase 2
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
ATP13A2 ATPase type 13A2
C9ORF72 chromosome 9 open reading frame 72
COASY CoA synthase
EDNRB endothelin receptor type B
GBA glucosidase, beta, acid
GJA1 gap junction protein, alpha 1, 43kDa
GJB1 gap junction protein, beta 1, 32kDa
GJC2 gap junction protein, gamma 2, 47kDa
MTPAP mitochondrial poly(A) polymerase
NF1 neurofibromin 1
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC30A10 solute carrier family 30, member 10
SOX10 SRY (sex determining region Y)-box 10
SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome)
SQSTM1 sequestosome 1
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TTC19 tetratricopeptide repeat domain 19
WDR45 WD repeat domain 45