CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Adolescent idiopathic scoliosis
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |
Narcolepsy
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association database developed in the Japanese Integrated Database Project.
|
19629137 |
2009 |
Congenital clubfoot
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Claw hand
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Proximal muscle weakness
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Absent reflex
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Congenital kyphoscoliosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Distal muscle weakness
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Kyphoscoliosis deformity of spine
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Acquired Kyphoscoliosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Distal sensory impairment
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Distal amyotrophy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Axonal regeneration
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Decreased number of peripheral myelinated nerve fibers
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Decreased motor nerve conduction velocity
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, MODIFIER OF (1 family)
|
0.100 |
SusceptibilityMutation
|
phenotype |
CLINVAR |
|
|
|
Charcot-Marie-Tooth Disease
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ganglioside-induced differentiation-associated-protein 1 (GDAP1) have been associated with both subtypes of Charcot-Marie-Tooth (CMT) disease, autosomal recessive (CMT4A and AR-CMT2K) and autosomal dominant (AD-CMT2K).
|
29372391 |
2018 |
Charcot-Marie-Tooth Disease
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause rare subtypes of Charcot-Marie-Tooth disease (CMT2K and CMT4A).
|
28495047 |
2017 |
Charcot-Marie-Tooth Disease
|
0.060 |
Biomarker
|
disease |
BEFREE |
GDAP1 mutations also alter fission, fusion and transport of mitochondria and are associated either with recessive demyelinating (CMT4A) and axonal CMT (AR-CMT2K) and, less commonly, with dominant, milder, axonal CMT (CMT2K).
|
25847151 |
2015 |
Charcot-Marie-Tooth Disease
|
0.060 |
Biomarker
|
disease |
BEFREE |
Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.
|
25168384 |
2015 |
Charcot-Marie-Tooth Disease
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Charcot-Marie-Tooth (CMT) disease caused by mutations in the GDAP1 gene has been shown to be inherited via traits that may be either autosomal recessive (in the majority of cases) [CMT4A] or autosomal dominant [CMT2K].
|
25337607 |
2014 |
Charcot-Marie-Tooth Disease
|
0.060 |
Biomarker
|
disease |
BEFREE |
Mutations in the ganglioside-induced-differentiation-associated protein 1 gene (GDAP1) can cause Charcot-Marie-Tooth (CMT) disease with demyelinating (CMT4A) or axonal forms (CMT2K and ARCMT2K).
|
21199105 |
2010 |