|
| Entrez Id: |
16 |
| Gene Symbol: |
AARS1 |
AARS1
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.110 |
CausalMutation |
CLINVAR |
Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.
|
30124830 |
2018 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
GeneticVariation |
CLINVAR |
Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation.
|
29095976 |
2018 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope.
|
29943882 |
2018 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Myofibrillar myopathy due to dominant LMNA mutations: A report of 2 cases.
|
29211919 |
2018 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Biomechanical defects and rescue of cardiomyocytes expressing pathologic nuclear lamins.
|
29432544 |
2018 |
|
| Entrez Id: |
9927 |
| Gene Symbol: |
MFN2 |
MFN2
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.200 |
CausalMutation |
CLINVAR |
Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.
|
27862672 |
2017 |
|
| Entrez Id: |
9927 |
| Gene Symbol: |
MFN2 |
MFN2
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.200 |
CausalMutation |
CLINVAR |
Genetic heterogeneity of motor neuropathies.
|
28251916 |
2017 |
|
| Entrez Id: |
9927 |
| Gene Symbol: |
MFN2 |
MFN2
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.200 |
CausalMutation |
CLINVAR |
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.
|
28414270 |
2017 |
|
| Entrez Id: |
9927 |
| Gene Symbol: |
MFN2 |
MFN2
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.200 |
CausalMutation |
CLINVAR |
Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.
|
28063088 |
2017 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly.
|
27723096 |
2017 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA.
|
27876398 |
2017 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing.
|
28679633 |
2017 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
GeneticVariation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy.
|
28416588 |
2017 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene.
|
29770364 |
2017 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045C > T LMNA mutation.
|
28620495 |
2017 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Genetic Mechanisms Contribute to the Development of Heart Failure in Patients with Atrioventricular Block and Right Ventricular Apical Pacing.
|
28878402 |
2017 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers.
|
29237675 |
2017 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
CausalMutation |
CLINVAR |
Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy.
|
28641778 |
2017 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.100 |
GeneticVariation |
CLINVAR |
Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy.
|
29367541 |
2017 |
|
| Entrez Id: |
9927 |
| Gene Symbol: |
MFN2 |
MFN2
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.200 |
GeneticVariation |
CLINVAR |
Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.
|
26955893 |
2016 |
|
| Entrez Id: |
9927 |
| Gene Symbol: |
MFN2 |
MFN2
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.200 |
CausalMutation |
CLINVAR |
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
|
26378787 |
2016 |
|
| Entrez Id: |
9927 |
| Gene Symbol: |
MFN2 |
MFN2
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.200 |
CausalMutation |
CLINVAR |
MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients.
|
26801520 |
2016 |
|
| Entrez Id: |
9927 |
| Gene Symbol: |
MFN2 |
MFN2
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.200 |
CausalMutation |
CLINVAR |
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience.
|
26989944 |
2016 |