Condition: Peripheral Neuropathy


rs1057517686 in ATAD3A gene and Peripheral Neuropathy PMID 27640307 2016 Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

rs774909609 in DNAJB5;DNAJB5-DT gene and Peripheral Neuropathy PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

rs587783070 in IARS2 gene and Peripheral Neuropathy PMID 25130867 2014 Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.

rs672601368 in KIF1A gene and Peripheral Neuropathy PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

rs765211108 in NGLY1 gene and Peripheral Neuropathy PMID 25220016 2015 NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.

rs796051881 in PEX5 gene and Peripheral Neuropathy PMID 26220973 2015 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

rs879253869 in PMP2 gene and Peripheral Neuropathy PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

rs755919784 in SPTLC3 gene and Peripheral Neuropathy PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.