Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.110 GeneticVariation disease BEFREE Mutations in the ALS5/SPG11/KIAA1840 gene are a frequent cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and peripheral axonal neuropathy, and account for ∼ 40% of autosomal recessive juvenile amyotrophic lateral sclerosis. 26556829 2016
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		0.110 GeneticVariation disease BEFREE Dominant optic atrophy (DOA) and axonal peripheral neuropathy (Charcot-Marie-Tooth type 2, or CMT2) are hereditary neurodegenerative disorders most commonly caused by mutations in the canonical mitochondrial fusion genes OPA1 and MFN2, respectively. 26168012 2015
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A 		0.110 Biomarker disease BEFREE This pedigree confirms the occurrence of an axonal peripheral neuropathy in SPG10. 21107874 2011
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		0.110 GeneticVariation disease CLINVAR
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		0.110 Biomarker disease HPO
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A 		0.110 Biomarker disease HPO
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.110 Biomarker disease HPO
Entrez Id: 291
Gene Symbol: SLC25A4
SLC25A4 		0.100 Biomarker disease HPO
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A 		0.100 Biomarker disease HPO
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 7466
Gene Symbol: WFS1
WFS1 		0.100 Biomarker disease HPO
Entrez Id: 4556
Gene Symbol: TRNE
TRNE 		0.100 Biomarker disease HPO
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		0.100 Biomarker disease HPO
Entrez Id: 80347
Gene Symbol: COASY
COASY 		0.100 Biomarker disease HPO
Entrez Id: 23321
Gene Symbol: TRIM2
TRIM2 		0.100 Biomarker disease HPO
Entrez Id: 65260
Gene Symbol: COA7
COA7 		0.100 Biomarker disease HPO
Entrez Id: 10516
Gene Symbol: FBLN5
FBLN5 		0.100 Biomarker disease HPO
Entrez Id: 9325
Gene Symbol: TRIP4
TRIP4 		0.100 Biomarker disease HPO
Entrez Id: 4618
Gene Symbol: MYF6
MYF6 		0.100 Biomarker disease HPO
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1 		0.100 Biomarker disease HPO
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3 		0.100 Biomarker disease HPO
Entrez Id: 22948
Gene Symbol: CCT5
CCT5 		0.100 Biomarker disease HPO
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.100 Biomarker disease HPO
Entrez Id: 2645
Gene Symbol: GCK
GCK 		0.100 Biomarker disease HPO
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		0.100 Biomarker disease HPO