rs104894077
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104894078
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104894158
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104894707
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
|
12112076 |
2002 |
rs104894708
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinicopathological and genetic study of early-onset demyelinating neuropathy.
|
15469949 |
2004 |
rs104894708
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.
|
15197604 |
2004 |
rs104894714
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
|
11133365 |
2001 |
rs104894714
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.
|
15197604 |
2004 |
rs104894715
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The use of whole-exome sequencing to disentangle complex phenotypes.
|
26059842 |
2016 |
rs104894715
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.
|
15197604 |
2004 |
rs104894715
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.
|
22847150 |
2012 |
rs104894715
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
|
11133365 |
2001 |
rs104894715
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease.
|
16770524 |
2006 |
rs1060499999
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1060500001
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1060503092
|
|
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 |
rs1060503092
|
|
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 |
rs118203974
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs119483085
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1198337036
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs121434402
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
|
10802647 |
2000 |
rs121434403
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121908287
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.
|
21705420 |
2011 |
rs121908287
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.
|
18556664 |
2008 |
rs121908287
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.
|
24878229 |
2014 |