Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
Entrez Id: 8792
Gene Symbol: TNFRSF11A
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