Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.700 Biomarker disease CTD_human
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1 		0.680 CausalMutation disease CLINVAR
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.430 CausalMutation disease CLINVAR
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.430 Biomarker disease HPO
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.400 CausalMutation disease CLINVAR
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		0.400 Biomarker disease MGD
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B 		0.400 CausalMutation disease CLINVAR
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		0.400 GeneticVariation disease CLINVAR
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.400 Biomarker disease HPO
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8 		0.200 CausalMutation disease CLINVAR
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		0.160 CausalMutation disease CLINVAR
Entrez Id: 6305
Gene Symbol: SBF1
SBF1 		0.140 GeneticVariation disease CLINVAR
Entrez Id: 81857
Gene Symbol: MED25
MED25 		0.130 CausalMutation disease CLINVAR
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2 		0.130 CausalMutation disease CLINVAR
Entrez Id: 3094
Gene Symbol: HINT1
HINT1 		0.120 Biomarker disease HPO
Entrez Id: 4141
Gene Symbol: MARS1
MARS1 		0.120 CausalMutation disease CLINVAR
Entrez Id: 9531
Gene Symbol: BAG3
BAG3 		0.110 GeneticVariation disease CLINVAR
Entrez Id: 3300
Gene Symbol: DNAJB2
DNAJB2 		0.110 CausalMutation disease CLINVAR
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.100 Biomarker disease HPO
Entrez Id: 1674
Gene Symbol: DES
DES 		0.100 Biomarker disease HPO
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5 		0.100 Biomarker disease HPO
Entrez Id: 3931
Gene Symbol: LCAT
LCAT 		0.010 AlteredExpression disease BEFREE A significant decrease of serum lecithin-cholesterol acyltransferase activity was also found in those patients with hereditary motor and sensory neuropathies, Type I and Type II (two types of peroneal muscular atrophy). 185334 1976
Entrez Id: 2395
Gene Symbol: FXN
FXN 		0.030 GeneticVariation disease BEFREE Many authors consider Charcot-Marie-Tooth syndrome (CMTS) and Roussy Levy syndrome (RLS) forme fruste or variants of Friedreich's ataxia (FA). 949237 1976
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.700 GeneticVariation disease BEFREE Recent studies suggested that the peripheral hypomyelination syndrome in the trembler (Tr) mouse, a possible animal model for CMT1 disease, is associated with a point mutation in the peripheral myelin protein-22 gene (pmp-22). 1303230 1992