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: 113278
Gene Symbol: SLC52A3
SLC52A3
0.410 GeneticVariation disease CLINVAR
Entrez Id: 113278
Gene Symbol: SLC52A3
SLC52A3
0.410 Biomarker disease HPO
Entrez Id: 113278
Gene Symbol: SLC52A3
SLC52A3
0.410 Biomarker disease CTD_human
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: 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: 4204
Gene Symbol: MECP2
MECP2
0.100 CausalMutation disease CLINVAR
Entrez Id: 54822
Gene Symbol: TRPM7
TRPM7
0.100 Biomarker disease HPO
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 GeneticVariation disease CLINVAR
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
0.100 Biomarker disease HPO
Entrez Id: 4703
Gene Symbol: NEB
NEB
0.100 Biomarker disease HPO
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.100 Biomarker disease HPO
Entrez Id: 9373
Gene Symbol: PLAA
PLAA
0.100 Biomarker disease HPO
Entrez Id: 127833
Gene Symbol: SYT2
SYT2
0.100 Biomarker disease HPO
Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25
0.100 Biomarker disease HPO