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: 9927
Gene Symbol: MFN2
MFN2
0.200 CausalMutation disease CLINVAR Giant cell tumor of soft parts. An ultrastructural study. 184582 1976
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.360 Biomarker disease BEFREE The distal HMN shows similarities with the hereditary motor and sensory neuropathies type I and II (HMSN I and HMSN II) or Charcot-Marie-Tooth disease type 1 and 2 (CMT 1 and CMT 2) and with some proximal HMN or spinal muscular atrophies (SMA). 1517763 1992
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
0.060 Biomarker disease BEFREE The distal HMN shows similarities with the hereditary motor and sensory neuropathies type I and II (HMSN I and HMSN II) or Charcot-Marie-Tooth disease type 1 and 2 (CMT 1 and CMT 2) and with some proximal HMN or spinal muscular atrophies (SMA). 1517763 1992
Entrez Id: 8731
Gene Symbol: RNMT
RNMT
0.040 Biomarker disease BEFREE The distal HMN shows similarities with the hereditary motor and sensory neuropathies type I and II (HMSN I and HMSN II) or Charcot-Marie-Tooth disease type 1 and 2 (CMT 1 and CMT 2) and with some proximal HMN or spinal muscular atrophies (SMA). 1517763 1992
Entrez Id: 9587
Gene Symbol: MAD2L1BP
MAD2L1BP
0.020 Biomarker disease BEFREE The distal HMN shows similarities with the hereditary motor and sensory neuropathies type I and II (HMSN I and HMSN II) or Charcot-Marie-Tooth disease type 1 and 2 (CMT 1 and CMT 2) and with some proximal HMN or spinal muscular atrophies (SMA). 1517763 1992
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.100 CausalMutation disease CLINVAR Contact sensitivity to phenylbutazone (Butazolidine) cream. 1839274 1991
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.100 CausalMutation disease CLINVAR [Urinary incontinence in women is treated differently depending on the type]. 2280636 1990
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.010 GeneticVariation disease BEFREE There are numerous other varieties of HMSN including other autosomal dominant conditions such as HMSN-II (with nearly normal motor NCV) and several types of familial amyloid neuropathy (with specific amino acid substitutions in transthyretin); autosomal recessive conditions such as HMSN-III (Déjérine-Sottas hypertrophic neuropathy of childhood) and Refsum's disease (defect of phytanic acid metabolism); and conditions produced by mutations on the X chromosome such as X-linked HMSN, Fabry trihexoside storage disease, and adrenomyeloneuropathy. 2646524 1989
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
0.200 GeneticVariation disease BEFREE Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. 8406488 1993
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
0.060 GeneticVariation disease BEFREE Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. 8406488 1993
Entrez Id: 10558
Gene Symbol: SPTLC1
SPTLC1
0.310 GeneticVariation disease BEFREE Exclusion of the locus for hereditary sensory neuropathy type I (HSN I) on chromosome 9q22 indicates that HSN I with mild motor symptoms and CMT2 with prominent sensory abnormalities are not allelic. 9219740 1997
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: 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: 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: 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: 7879
Gene Symbol: RAB7A
RAB7A
0.040 Biomarker disease BEFREE Three autosomal dominant CMT2 loci have been located on chromosomes 1p35-p36 (CMT2A), 3q13-q22 (CMT2B), and 7p14 (CMT2D) indicating that CMT2 is a genetically heterogeneous disorder. 9219740 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: 9927
Gene Symbol: MFN2
MFN2
0.200 GeneticVariation disease BEFREE Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A. 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: 23095
Gene Symbol: KIF1B
KIF1B
0.060 GeneticVariation disease BEFREE Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A. 9409358 1997
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: 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