Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.110 GeneticVariation phenotype BEFREE The application of the quantitative fluorescence-PCR using STRs located in the critical region could be a reliable method to evaluate the presence of the PMP22 duplication for the diagnosis and classification of hereditary neuropathies in asymptomatic subjects with a family history of inherited neuropathy, in prenatal samples in cases with one affected parent, and in unrelated patients with a sporadic demyelinating neuropathy with clinical features resembling CMT (i.e., pes cavus with hammer toes) or with conduction velocities in the range of CMT1A. 20187762 2010
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.110 Biomarker phenotype HPO
Entrez Id: 23111
Gene Symbol: SPART
SPART 		0.100 Biomarker phenotype HPO
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 26278
Gene Symbol: SACS
SACS 		0.100 Biomarker phenotype HPO
Entrez Id: 8566
Gene Symbol: PDXK
PDXK 		0.100 Biomarker phenotype HPO
Entrez Id: 400916
Gene Symbol: CHCHD10
CHCHD10 		0.100 Biomarker phenotype HPO
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.100 Biomarker phenotype HPO
Entrez Id: 50717
Gene Symbol: DCAF8
DCAF8 		0.100 Biomarker phenotype HPO
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		0.100 Biomarker phenotype HPO
Entrez Id: 11261
Gene Symbol: CHP1
CHP1 		0.100 Biomarker phenotype HPO
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23443
Gene Symbol: SLC35A3
SLC35A3 		0.100 Biomarker phenotype HPO
Entrez Id: 7879
Gene Symbol: RAB7A
RAB7A 		0.100 Biomarker phenotype HPO
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2617
Gene Symbol: GARS1
GARS1 		0.100 Biomarker phenotype HPO
Entrez Id: 4358
Gene Symbol: MPV17
MPV17 		0.100 Biomarker phenotype HPO
Entrez Id: 54880
Gene Symbol: BCOR
BCOR 		0.100 Biomarker phenotype HPO
Entrez Id: 64423
Gene Symbol: INF2
INF2 		0.100 Biomarker phenotype HPO
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.100 Biomarker phenotype HPO
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B 		0.100 Biomarker phenotype HPO
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		0.100 Biomarker phenotype HPO
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		0.100 Biomarker phenotype HPO
Entrez Id: 10280
Gene Symbol: SIGMAR1
SIGMAR1 		0.100 Biomarker phenotype HPO