Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.360 Biomarker disease CTD_human
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.120 GeneticVariation disease CLINVAR
Entrez Id: 100534595
Gene Symbol: HNRNPUL2-BSCL2
HNRNPUL2-BSCL2 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR "Two children with ""dropped head"" syndrome due to lamin A/C mutations." 20886652 2010
Entrez Id: 7879
Gene Symbol: RAB7A
RAB7A 		0.040 GeneticVariation disease BEFREE Charcot-Marie-Tooth disease type 2 (CMT2) is characterized by a motor conduction velocity of the median nerve of > 38 m/sec and is a genetically heterogeneous disorder with at least three loci identified: CMT2A (1p35-36), CMT2B (3q13-22), CMT2C (not linked to any known loci), and CMT2D (7p14). 9409358 1997
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.320 GeneticVariation disease BEFREE Charcot-Marie-Tooth disease type 2 (CMT2) is characterized by a motor conduction velocity of the median nerve of > 38 m/sec and is a genetically heterogeneous disorder with at least three loci identified: CMT2A (1p35-36), CMT2B (3q13-22), CMT2C (not linked to any known loci), and CMT2D (7p14). 9409358 1997
Entrez Id: 2617
Gene Symbol: GARS1
GARS1 		0.140 GeneticVariation disease BEFREE Charcot-Marie-Tooth disease type 2 (CMT2) is characterized by a motor conduction velocity of the median nerve of > 38 m/sec and is a genetically heterogeneous disorder with at least three loci identified: CMT2A (1p35-36), CMT2B (3q13-22), CMT2C (not linked to any known loci), and CMT2D (7p14). 9409358 1997
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		0.040 GeneticVariation disease BEFREE Charcot-Marie-Tooth disease type 2 (CMT2) is characterized by a motor conduction velocity of the median nerve of > 38 m/sec and is a genetically heterogeneous disorder with at least three loci identified: CMT2A (1p35-36), CMT2B (3q13-22), CMT2C (not linked to any known loci), and CMT2D (7p14). 9409358 1997
Entrez Id: 9587
Gene Symbol: MAD2L1BP
MAD2L1BP 		0.020 Biomarker disease BEFREE HMSN type II (HMSN II) or CMT2, the axonal form of CMT, is genetically heterogeneous. 9595994 1998
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		0.200 GeneticVariation disease BEFREE MFN2 mutations are a frequent cause of CMT2, with variable severity and either dominant or recessive inheritance. 20008656 2009
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		0.010 Biomarker disease BEFREE ATP7A-related distal motor neuropathy presents even later, often not until adolescence or early adulthood, and involves a neurological phenotype that resembles Charcot-Marie-Tooth disease, type 2. 23622398 2013
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.020 GeneticVariation disease BEFREE VCP mutations should thus be considered for genetically undefined Charcot-Marie-Tooth disease type 2. 25125609 2014
Entrez Id: 7415
Gene Symbol: VCP
VCP 		0.020 GeneticVariation disease BEFREE VCP mutations have also been linked to amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2. 26574898 2016
Entrez Id: 400916
Gene Symbol: CHCHD10
CHCHD10 		0.010 Biomarker disease BEFREE CHCHD10-related diseases include mitochondrial DNA instability disorder, frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) clinical spectrum, late-onset spinal motor neuropathy (SMAJ), and Charcot-Marie-Tooth disease type 2 (CMT2). 26666268 2016
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2 		0.020 GeneticVariation disease BEFREE IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients. 28065684 2017
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		0.200 GeneticVariation disease BEFREE A CMT2 family was examined for linkage to the CMT2A, CMT2B, and CMT2D loci using short tandem repeat polymorphisms. 9219740 1997
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B 		0.060 GeneticVariation disease BEFREE A CMT2 family was examined for linkage to the CMT2A, CMT2B, and CMT2D loci using short tandem repeat polymorphisms. 9219740 1997
Entrez Id: 2617
Gene Symbol: GARS1
GARS1 		0.140 GeneticVariation disease BEFREE A CMT2 family was examined for linkage to the CMT2A, CMT2B, and CMT2D loci using short tandem repeat polymorphisms. 9219740 1997
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		0.040 GeneticVariation disease BEFREE A CMT2 family was examined for linkage to the CMT2A, CMT2B, and CMT2D loci using short tandem repeat polymorphisms. 9219740 1997
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		0.200 CausalMutation disease CLINVAR A cohort study of Han Chinese MFN2-related Charcot-Marie-Tooth 2A. 26382835 2015
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		0.200 CausalMutation disease CLINVAR A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients. 24863639 2015
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR A conserved splicing mechanism of the LMNA gene controls premature aging. 21875900 2011
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block. 25469153 2014
Entrez Id: 3236
Gene Symbol: HOXD10
HOXD10 		0.300 Biomarker disease CTD_human A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease. 15146389 2004
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR A laminopathic mutation disrupting lamin filament assembly causes disease-like phenotypes in Caenorhabditis elegans. 21653823 2011