Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7 		0.010 GeneticVariation phenotype BEFREE Larger expansions correlated with areflexia in SCA 2, with pyramidal signs in SCA 3 and with early visual impairment in SCA 7. 15876341 2005
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3 		0.010 GeneticVariation phenotype BEFREE Larger expansions correlated with areflexia in SCA 2, with pyramidal signs in SCA 3 and with early visual impairment in SCA 7. 15876341 2005
Entrez Id: 4061
Gene Symbol: LY6E
LY6E 		0.010 Biomarker phenotype BEFREE Larger expansions correlated with areflexia in SCA 2, with pyramidal signs in SCA 3 and with early visual impairment in SCA 7. 15876341 2005
Entrez Id: 9587
Gene Symbol: MAD2L1BP
MAD2L1BP 		0.010 GeneticVariation phenotype BEFREE Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs. 20806400 2010
Entrez Id: 54974
Gene Symbol: THG1L
THG1L 		0.010 GeneticVariation phenotype BEFREE Using whole exome sequencing, we identified homozygous p.Val55Ala in the THG1L (tRNA-histidine guanylyltransferase 1 like) gene in three siblings who presented with cerebellar signs, developmental delay, dysarthria, and pyramidal signs and had cerebellar atrophy on brain MRI. 27307223 2016
Entrez Id: 101060233
Gene Symbol: OPN1MW3
OPN1MW3 		0.010 Biomarker phenotype BEFREE These forms can present PSP or CBD-like clinical signs, with bulbar and/or extrabulbar pyramidal signs and cognitive impairment. 23546887 2013
Entrez Id: 8988
Gene Symbol: HSPB3
HSPB3 		0.010 Biomarker phenotype BEFREE Atypical features such as deafness and pyramidal signs were present in our cases adding new data to the large spectrum of HSP27-related phenotype. 25547330 2015
Entrez Id: 2652
Gene Symbol: OPN1MW
OPN1MW 		0.010 Biomarker phenotype BEFREE These forms can present PSP or CBD-like clinical signs, with bulbar and/or extrabulbar pyramidal signs and cognitive impairment. 23546887 2013
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1 		0.010 Biomarker phenotype BEFREE Atypical features such as deafness and pyramidal signs were present in our cases adding new data to the large spectrum of HSP27-related phenotype. 25547330 2015
Entrez Id: 26278
Gene Symbol: SACS
SACS 		0.010 GeneticVariation phenotype BEFREE With the collaboration of the clinical European and Mediterranean SPATAX network, we identified 15 families with 34 affected members presenting with ataxia and pyramidal signs or spasticity that were not linked to the ARSACS locus on chromosome 13. 17273843 2007
Entrez Id: 728458
Gene Symbol: OPN1MW2
OPN1MW2 		0.010 Biomarker phenotype BEFREE These forms can present PSP or CBD-like clinical signs, with bulbar and/or extrabulbar pyramidal signs and cognitive impairment. 23546887 2013
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		0.010 GeneticVariation phenotype BEFREE Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs. 25583183 2014
Entrez Id: 3735
Gene Symbol: KARS1
KARS1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 23064
Gene Symbol: SETX
SETX 		0.120 Biomarker phenotype HPO
Entrez Id: 10280
Gene Symbol: SIGMAR1
SIGMAR1 		0.120 Biomarker phenotype HPO
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.110 Biomarker phenotype HPO
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		0.110 Biomarker phenotype HPO
Entrez Id: 4001
Gene Symbol: LMNB1
LMNB1 		0.110 Biomarker phenotype HPO
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A 		0.100 Biomarker phenotype HPO
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7 		0.100 Biomarker phenotype HPO
Entrez Id: 5696
Gene Symbol: PSMB8
PSMB8 		0.100 Biomarker phenotype HPO
Entrez Id: 720
Gene Symbol: C4A
C4A 		0.100 Biomarker phenotype HPO