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.