Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913595
rs121913595
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		A 0.760 CausalMutation CLINVAR

dbSNP: rs59885338
rs59885338
LMNA
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.730 CausalMutation CLINVAR

dbSNP: rs104894078
rs104894078
GDAP1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.720 CausalMutation CLINVAR

dbSNP: rs104894345
rs104894345
HSPB8 ; LOC107984440
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		C 0.720 CausalMutation CLINVAR

dbSNP: rs104894345
rs104894345
HSPB8 ; LOC107984440
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.720 CausalMutation CLINVAR

dbSNP: rs104894351
rs104894351
HSPB8 ; LOC107984440
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		G 0.710 CausalMutation CLINVAR

dbSNP: rs119103268
rs119103268
MFN2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.710 CausalMutation CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039

2014
dbSNP: rs119103268
rs119103268
MFN2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.710 CausalMutation CLINVAR Genetic spectrum of hereditary neuropathies with onset in the first year of life. 21840889

2011
dbSNP: rs119103268
rs119103268
MFN2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.710 CausalMutation CLINVAR Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2. 21531138

2011
dbSNP: rs119103268
rs119103268
MFN2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.710 CausalMutation CLINVAR Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations. 18425620

2008
dbSNP: rs121913597
rs121913597
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		A 0.710 CausalMutation CLINVAR

dbSNP: rs145770066
rs145770066
MED25 ; MIR6800
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.710 CausalMutation CLINVAR

dbSNP: rs267606621
rs267606621
AARS1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.710 CausalMutation CLINVAR

dbSNP: rs786200930
rs786200930
LRSAM1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		CCG 0.710 CausalMutation CLINVAR

dbSNP: rs80338933
rs80338933
SH3TC2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		A 0.710 CausalMutation CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039

2014
dbSNP: rs80338933
rs80338933
SH3TC2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		A 0.710 CausalMutation CLINVAR Five families with AR demyelinating CMT and SH3TC2 mutations were identified, four families were homozygous for the R954X mutation and the fifth family was compound heterozygous for the R954X and E657K mutations. 19272779

2009
dbSNP: rs80338933
rs80338933
SH3TC2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		A 0.710 CausalMutation CLINVAR Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. 18511281

2008
dbSNP: rs80338933
rs80338933
SH3TC2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		A 0.710 CausalMutation CLINVAR Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. 16924012

2006
dbSNP: rs80338933
rs80338933
SH3TC2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		A 0.710 CausalMutation CLINVAR Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. 14574644

2003
dbSNP: rs113994102
rs113994102
CTDP1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.700 CausalMutation CLINVAR Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity. 16194727

2005
dbSNP: rs121908160
rs121908160
KIF1B
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918312
rs121918312
BAG3
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs137852667
rs137852667
IGHMBP2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		A 0.700 CausalMutation CLINVAR

dbSNP: rs142000963
rs142000963
LMNA
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.700 GeneticVariation CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039

2014
dbSNP: rs142000963
rs142000963
LMNA
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.700 GeneticVariation CLINVAR Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. 18478590

2008