Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.680 CausalMutation CLINVAR

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.430 CausalMutation CLINVAR

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 CausalMutation CLINVAR

Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 CausalMutation CLINVAR

Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 GeneticVariation CLINVAR

Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.200 CausalMutation CLINVAR

Entrez Id: 16
Gene Symbol: AARS1
AARS1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.160 CausalMutation CLINVAR

Entrez Id: 6305
Gene Symbol: SBF1
SBF1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.140 GeneticVariation CLINVAR

Entrez Id: 81857
Gene Symbol: MED25
MED25
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.130 CausalMutation CLINVAR

Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.130 CausalMutation CLINVAR

Entrez Id: 4141
Gene Symbol: MARS1
MARS1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.120 CausalMutation CLINVAR

Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.110 GeneticVariation CLINVAR

Entrez Id: 3300
Gene Symbol: DNAJB2
DNAJB2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.110 CausalMutation CLINVAR

Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 CausalMutation CLINVAR Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. 14574644

2003
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.200 CausalMutation CLINVAR We observed the additional HSPB1 mutations in four families with distal HMN and in one individual with CMT neuropathy. 15122254

2004
Entrez Id: 9150
Gene Symbol: CTDP1
CTDP1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.100 CausalMutation CLINVAR Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity. 16194727

2005
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 CausalMutation CLINVAR MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. 16714318

2006
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 CausalMutation CLINVAR Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. 16924012

2006
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 GeneticVariation CLINVAR Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. 18478590

2008
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 CausalMutation CLINVAR Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations. 18425620

2008
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 CausalMutation CLINVAR Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. 18511281

2008
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 CausalMutation CLINVAR The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. 19272779

2009
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.200 CausalMutation CLINVAR Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy. 20660910

2010
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.200 CausalMutation CLINVAR Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy. 20178975

2010
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 CausalMutation CLINVAR Genetic spectrum of hereditary neuropathies with onset in the first year of life. 21840889

2011