Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 103
Gene Symbol: ADAR
ADAR 		0.100 Biomarker phenotype HPO
Entrez Id: 120
Gene Symbol: ADD3
ADD3 		0.100 Biomarker phenotype HPO
Entrez Id: 9255
Gene Symbol: AIMP1
AIMP1 		0.100 Biomarker phenotype HPO
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2 		0.100 Biomarker phenotype HPO
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		0.100 Biomarker phenotype HPO
Entrez Id: 25814
Gene Symbol: ATXN10
ATXN10 		0.100 Biomarker phenotype HPO
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		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: 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: 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: 724066
Gene Symbol: ATXN8
ATXN8 		0.100 Biomarker phenotype HPO
Entrez Id: 6315
Gene Symbol: ATXN8OS
ATXN8OS 		0.100 Biomarker phenotype HPO
Entrez Id: 10134
Gene Symbol: BCAP31
BCAP31 		0.100 Biomarker phenotype HPO
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		0.100 Biomarker phenotype HPO
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.110 GeneticVariation phenotype BEFREE BSCL2 gene mutations are associated with a wide spectrum of clinical and electrophysiological phenotypes and should be suspected in cases of distal hereditary motor neuropathy with pyramidal signs or early hand involvement. 25454168 2015
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.110 Biomarker phenotype HPO
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12 		0.010 GeneticVariation phenotype BEFREE Patients from 13 different families having progressive motor symptoms with irritative pyramidal signs and brain iron accumulation were screened for C19orf12 gene variants. 31804703 2019
Entrez Id: 720
Gene Symbol: C4A
C4A 		0.100 Biomarker phenotype HPO
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1 		0.100 Biomarker phenotype HPO
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1230
Gene Symbol: CCR1
CCR1 		0.100 Biomarker phenotype HPO
Entrez Id: 81570
Gene Symbol: CLPB
CLPB 		0.100 Biomarker phenotype HPO
Entrez Id: 84334
Gene Symbol: COA8
COA8 		0.100 Biomarker phenotype HPO
Entrez Id: 27235
Gene Symbol: COQ2
COQ2 		0.100 Biomarker phenotype HPO
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A 		0.100 Biomarker phenotype HPO
Entrez Id: 80169
Gene Symbol: CTC1
CTC1 		0.100 Biomarker phenotype HPO