Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338934
rs80338934
SH3TC2
0.710 GeneticVariation BEFREE The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. 17470135

2007
dbSNP: rs80338934
rs80338934
SH3TC2
A 0.710 CausalMutation CLINVAR Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4). 27231023

2016
dbSNP: rs80338934
rs80338934
SH3TC2
A 0.710 CausalMutation CLINVAR Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy. 26752306

2016
dbSNP: rs80338934
rs80338934
SH3TC2
A 0.710 CausalMutation CLINVAR Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth. 22978647

2013
dbSNP: rs80338934
rs80338934
SH3TC2
A 0.710 CausalMutation CLINVAR The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. 17470135

2007
dbSNP: rs80338934
rs80338934
SH3TC2
A 0.710 CausalMutation CLINVAR A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes. 16326826

2005
dbSNP: rs104894077
rs104894077
GDAP1
T 0.700 CausalMutation CLINVAR

dbSNP: rs104894078
rs104894078
GDAP1
T 0.700 CausalMutation CLINVAR

dbSNP: rs104894158
rs104894158
EGR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs104894707
rs104894707
PRX
T 0.700 CausalMutation CLINVAR Periaxin mutations cause a broad spectrum of demyelinating neuropathies. 12112076

2002
dbSNP: rs104894708
rs104894708
PRX
A 0.700 CausalMutation CLINVAR Clinicopathological and genetic study of early-onset demyelinating neuropathy. 15469949

2004
dbSNP: rs104894708
rs104894708
PRX
A 0.700 CausalMutation CLINVAR Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. 15197604

2004
dbSNP: rs104894714
rs104894714
PRX
A 0.700 CausalMutation CLINVAR Periaxin mutations cause recessive Dejerine-Sottas neuropathy. 11133365

2001
dbSNP: rs104894714
rs104894714
PRX
A 0.700 CausalMutation CLINVAR Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. 15197604

2004
dbSNP: rs104894715
rs104894715
PRX
A 0.700 CausalMutation CLINVAR The use of whole-exome sequencing to disentangle complex phenotypes. 26059842

2016
dbSNP: rs104894715
rs104894715
PRX
A 0.700 CausalMutation CLINVAR Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. 15197604

2004
dbSNP: rs104894715
rs104894715
PRX
A 0.700 CausalMutation CLINVAR Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. 22847150

2012
dbSNP: rs104894715
rs104894715
PRX
A 0.700 CausalMutation CLINVAR Periaxin mutations cause recessive Dejerine-Sottas neuropathy. 11133365

2001
dbSNP: rs104894715
rs104894715
PRX
A 0.700 CausalMutation CLINVAR Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. 16770524

2006
dbSNP: rs1060499999
rs1060499999
SBF2 ; SBF2-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500001
rs1060500001
SBF2 ; LOC101928008
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060503092
rs1060503092
NDRG1
T 0.700 CausalMutation CLINVAR Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia. 23996628

2013
dbSNP: rs1060503092
rs1060503092
NDRG1
T 0.700 CausalMutation CLINVAR Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease. 12872253

2003
dbSNP: rs118203974
rs118203974
FGD4
T 0.700 CausalMutation CLINVAR

dbSNP: rs119483085
rs119483085
NDRG1
A 0.700 CausalMutation CLINVAR