×
Entrez Id:
3162
Gene Symbol:
HMOX1
HMOX1
0.200
Therapeutic
phenotype
RGD
The early period of paraparesis in the lower leg was greatly suppressed by pretreatment with zinc protoporphyrin IX, a HO-1 inhibitor.
23068093
2012
×
Entrez Id:
3431
Gene Symbol:
SP110
SP110
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
5631
Gene Symbol:
PRPS1
PRPS1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
23400
Gene Symbol:
ATP13A2
ATP13A2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
23435
Gene Symbol:
TARDBP
TARDBP
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
3145
Gene Symbol:
HMBS
HMBS
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
400916
Gene Symbol:
CHCHD10
CHCHD10
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2521
Gene Symbol:
FUS
FUS
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
80704
Gene Symbol:
SLC19A3
SLC19A3
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2697
Gene Symbol:
GJA1
GJA1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
1213
Gene Symbol:
CLTC
CLTC
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
8878
Gene Symbol:
SQSTM1
SQSTM1
0.100
Biomarker
phenotype
HPO
TNFRSF11A
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
215
Gene Symbol:
ABCD1
ABCD1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
203228
Gene Symbol:
C9orf72
C9orf72
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
8924
Gene Symbol:
HERC2
HERC2
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
7415
Gene Symbol:
VCP
VCP
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
29110
Gene Symbol:
TBK1
TBK1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.030
GeneticVariation
phenotype
BEFREE
Hereditary spastic paraparesis (HPS) linked to mutations in the spastin gene (SPG4 ) is considered to be a pure form of spastic hereditary paraparesis .
19289482
2009
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.030
GeneticVariation
phenotype
BEFREE
Comparison of the mutation-positive group with the SPG4 -excluded group revealed an older age at onset (p = 0.03), more disability (p = 0.001), more rapidly progressive paraparesis (p = 0.044), and more cognitive impairment (p = 0.024) among affected individuals with SPAST mutations, not confounded by disease duration.
11134375
2000
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.030
GeneticVariation
phenotype
BEFREE
To investigate whether cognitive decline is part of the phenotype of SPG4 -linked hereditary spastic paraparesis (HSP) and to determine whether cognitive changes are present in haplotype carriers before the onset of paraparesis .
10751268
2000
×
Entrez Id:
5067
Gene Symbol:
CNTN3
CNTN3
0.010
Biomarker
phenotype
BEFREE
The most common etiology for PCS was spinal cord compression from localized tumors (78%).Seven (78%) patients had paraparesis .
30939076
2019