Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 113278
Gene Symbol: SLC52A3
SLC52A3 		0.410 Biomarker disease BEFREE Brown-Vialetto-Van Laere syndrome (BVVLS [MIM 211530]) is a rare neurological disorder characterized by infancy onset sensorineural deafness and ponto-bulbar palsy. 22864630 2012
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2 		0.010 AlteredExpression disease BEFREE The cerebrospinal fluid (CSF) protein level in patients was higher in MFS-BP+ than in MFS-BP- group (67.69 ± 26.59 vs. 50.15 ± 20.44 mg/dl; P < 0.05). 29124441 2018
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS 		0.010 Biomarker disease BEFREE A 40 year old lady had progressive weakness and atrophy of the limbs and bulbar palsy from the age of 39 years and with electrophysiological evaluation was confirmed as definite ALS. 16936397 2006
Entrez Id: 1437
Gene Symbol: CSF2
CSF2 		0.010 AlteredExpression disease BEFREE The cerebrospinal fluid (CSF) protein level in patients was higher in MFS-BP+ than in MFS-BP- group (67.69 ± 26.59 vs. 50.15 ± 20.44 mg/dl; P < 0.05). 29124441 2018
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		0.010 Biomarker disease BEFREE A 40 year old lady had progressive weakness and atrophy of the limbs and bulbar palsy from the age of 39 years and with electrophysiological evaluation was confirmed as definite ALS. 16936397 2006
Entrez Id: 113278
Gene Symbol: SLC52A3
SLC52A3 		0.410 GeneticVariation disease CLINVAR
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		0.100 GeneticVariation disease CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.100 CausalMutation disease CLINVAR
Entrez Id: 113278
Gene Symbol: SLC52A3
SLC52A3 		0.410 Biomarker disease CTD_human
Entrez Id: 113278
Gene Symbol: SLC52A3
SLC52A3 		0.410 Biomarker disease HPO
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		0.100 Biomarker disease HPO
Entrez Id: 29110
Gene Symbol: TBK1
TBK1 		0.100 Biomarker disease HPO
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.100 Biomarker disease HPO
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.100 Biomarker disease HPO
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1 		0.100 Biomarker disease HPO
Entrez Id: 367
Gene Symbol: AR
AR 		0.100 Biomarker disease HPO
Entrez Id: 9782
Gene Symbol: MATR3
MATR3 		0.100 Biomarker disease HPO
Entrez Id: 375790
Gene Symbol: AGRN
AGRN 		0.100 Biomarker disease HPO
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.100 Biomarker disease HPO
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.100 Biomarker disease HPO
Entrez Id: 79581
Gene Symbol: SLC52A2
SLC52A2 		0.100 Biomarker disease HPO
Entrez Id: 54822
Gene Symbol: TRPM7
TRPM7 		0.100 Biomarker disease HPO
Entrez Id: 1103
Gene Symbol: CHAT
CHAT 		0.100 Biomarker disease HPO