Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		0.380 Biomarker disease MGD
Entrez Id: 119032
Gene Symbol: BORCS7
BORCS7 		0.200 Biomarker disease MGD
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26 		0.390 Biomarker disease BEFREE "Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia. 30606727 2019
Entrez Id: 81631
Gene Symbol: MAP1LC3B
MAP1LC3B 		0.010 Biomarker disease BEFREE <b>Abbreviations</b>: AP: adaptor protein; AP4B1: adaptor-related protein complex AP-4, beta 1; AP4E1: adaptor-related protein complex AP-4, epsilon 1; ATG: autophagy-related; EBSS: Earle's balanced salt solution; ER: endoplasmic reticulum; GFAP: glial fibrillary acidic protein; GOLGA1/Golgin-97/GOLG97: golgi autoantigen, golgin subfamily a, 1; GOLGA2/GM130: golgi autoantigen, golgin subfamily a, 2; HSP: hereditary spastic paraplegia; LC3/MAP1LC3B: microtubule-associated protein 1 light chain 3 beta; MAP2: microtubule-associated protein 2; MAPK8IP1/JIP1: mitogen-acitvated protein kinase 8 interacting protein 1; NEFH/NF200: neurofilament, heavy polypeptide; RBFOX3/NeuN (RNA binding protein, fox-1 homolog [C. elegans] 3); SQSTM1/p62: sequestosome 1; TGN: trans-Golgi network; WIPI2: WD repeat domain, phosphoinositide interacting protein 2. 31142229 2020
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 Biomarker disease BEFREE <i>MiR-33a</i> is a therapeutic target in SPG4-related hereditary spastic paraplegia human neurons. 30777884 2019
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A 		0.500 GeneticVariation disease BEFREE 23 separate mutations in the motor domain of Kif5A have been identified in patients with the complicated form of hereditary spastic paraplegia (HSP). 28678816 2017
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1 		0.260 GeneticVariation disease BEFREE Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. 11898127 2002
Entrez Id: 51182
Gene Symbol: HSPA14
HSPA14 		0.020 GeneticVariation disease BEFREE Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. 11898127 2002
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Hereditary spastic paraplegia (HSP) due to mutations in the spastin gene (SPG4) located to 2p22-p21 is the most common form of autosomal dominant (AD) HSP. 15637712 2005
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. 15667412 2004
Entrez Id: 7190
Gene Symbol: HSP90B2P
HSP90B2P 		0.100 GeneticVariation disease BEFREE Hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is a complicated form of autosomal-recessive hereditary spastic paraplegia. 17013586 2006
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 Biomarker disease BEFREE Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity. 18332254 2008
Entrez Id: 7190
Gene Symbol: HSP90B2P
HSP90B2P 		0.100 GeneticVariation disease BEFREE Hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is a clinically and genetically heterogeneous neurodegenerative disorder with genetic linkage to multi-loci. 18835492 2008
Entrez Id: 57165
Gene Symbol: GJC2
GJC2 		0.040 Biomarker disease BEFREE Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. 19056803 2009
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations. 20562464 2010
Entrez Id: 57760
Gene Symbol: SPG16
SPG16 		0.030 GeneticVariation disease BEFREE Hereditary spastic paraplegias (HSPs) include a group of neurodegenerative diseases, and so far 46 SPG loci have been mapped and 17 genes isolated. 21107874 2011
Entrez Id: 55764
Gene Symbol: IFT122
IFT122 		0.030 GeneticVariation disease BEFREE Hereditary spastic paraplegias (HSPs) include a group of neurodegenerative diseases, and so far 46 SPG loci have been mapped and 17 genes isolated. 21107874 2011
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM 		0.340 GeneticVariation disease BEFREE Hereditary spastic paraplegias (HSPs; SPG1-48) are inherited neurological disorders characterized by lower extremity spasticity and weakness. 22619377 2012
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 GeneticVariation disease BEFREE Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking. 23079343 2013
Entrez Id: 7190
Gene Symbol: HSP90B2P
HSP90B2P 		0.100 Biomarker disease BEFREE Hereditary Spastic Paraplegia Type 35 is a complicated form of HSP characterized by progressive spastic paraparesis, dysarthria, and mild cognitive decline associated with leukodystrophy on brain imaging. 23566484 2013
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72 		0.020 Biomarker disease BEFREE Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort. 24126854 2014
Entrez Id: 7190
Gene Symbol: HSP90B2P
HSP90B2P 		0.100 GeneticVariation disease BEFREE Hereditary spastic paraplegia (HSP or SPG) is a group of genetically and clinically heterogeneous neurodegenerative disorders. 25454648 2014
Entrez Id: 55764
Gene Symbol: IFT122
IFT122 		0.030 GeneticVariation disease BEFREE Hereditary spastic paraplegia (HSP or SPG) is a group of genetically and clinically heterogeneous neurodegenerative disorders. 25454648 2014
Entrez Id: 57760
Gene Symbol: SPG16
SPG16 		0.030 GeneticVariation disease BEFREE Hereditary spastic paraplegia (HSP or SPG) is a group of genetically and clinically heterogeneous neurodegenerative disorders. 25454648 2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 Biomarker disease BEFREE Hereditary spastic paraplegia SPG4: what is known and not known about the disease. 26094131 2015