peripheral axonal degeneration Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Progressive deterioration of peripheral axons. (Human Phenotype Ontology, HP_0000764)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000764
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Genes

65 genes associated with the peripheral axonal degeneration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
AARS alanyl-tRNA synthetase
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
APTX aprataxin
ATL1 atlastin GTPase 1
ATL3 atlastin GTPase 3
BAG3 BCL2-associated athanogene 3
BRAF B-Raf proto-oncogene, serine/threonine kinase
C10ORF2 chromosome 10 open reading frame 2
C12ORF65 chromosome 12 open reading frame 65
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
COASY CoA synthase
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DDHD1 DDHD domain containing 1
DNM2 dynamin 2
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
ELOVL5 ELOVL fatty acid elongase 5
FAM134B family with sequence similarity 134, member B
FGF14 fibroblast growth factor 14
FIG4 FIG4 phosphoinositide 5-phosphatase
GAN gigaxonin
GDAP1 ganglioside induced differentiation associated protein 1
GJB1 gap junction protein, beta 1, 32kDa
GJC2 gap junction protein, gamma 2, 47kDa
GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4
HINT1 histidine triad nucleotide binding protein 1
HK1 hexokinase 1
HSPB1 heat shock 27kDa protein 1
HSPB8 heat shock 22kDa protein 8
IGHMBP2 immunoglobulin mu binding protein 2
INF2 inverted formin, FH2 and WH2 domain containing
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KIF1A kinesin family member 1A
KIF1B kinesin family member 1B
KRAS Kirsten rat sarcoma viral oncogene homolog
LMNA lamin A/C
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
MFN2 mitofusin 2
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MPZ myelin protein zero
NAGA N-acetylgalactosaminidase, alpha-
NDRG1 N-myc downstream regulated 1
NEFL neurofilament, light polypeptide
POLG polymerase (DNA directed), gamma
PRICKLE1 prickle homolog 1 (Drosophila)
RAB7A RAB7A, member RAS oncogene family
SEPT9 septin 9
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SETX senataxin
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SPTLC1 serine palmitoyltransferase, long chain base subunit 1
TDP1 tyrosyl-DNA phosphodiesterase 1
TREM2 triggering receptor expressed on myeloid cells 2
TRIM2 tripartite motif containing 2
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTR transthyretin
TUBB3 tubulin, beta 3 class III
TYROBP TYRO protein tyrosine kinase binding protein
YARS tyrosyl-tRNA synthetase
ZFYVE26 zinc finger, FYVE domain containing 26