distal amyotrophy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Muscular atrophy affecting muscles in the distal portions of the extremities. (Human Phenotype Ontology, HP_0003693)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003693
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Genes

77 genes associated with the distal amyotrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABHD12 abhydrolase domain containing 12
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ANG angiogenin, ribonuclease, RNase A family, 5
APTX aprataxin
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATL1 atlastin GTPase 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATXN1 ataxin 1
ATXN2 ataxin 2
ATXN3 ataxin 3
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C19ORF12 chromosome 19 open reading frame 12
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
COASY CoA synthase
DCAF8 DDB1 and CUL4 associated factor 8
DCTN1 dynactin 1
DNM2 dynamin 2
DOK7 docking protein 7
DYSF dysferlin
EGR2 early growth response 2
FGD4 FYVE, RhoGEF and PH domain containing 4
FLNC filamin C, gamma
GAN gigaxonin
GARS glycyl-tRNA synthetase
GDAP1 ganglioside induced differentiation associated protein 1
GJB1 gap junction protein, beta 1, 32kDa
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
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
KDM5C lysine (K)-specific demethylase 5C
KIF1B kinesin family member 1B
KIF1C kinesin family member 1C
LITAF lipopolysaccharide-induced TNF factor
LMNA lamin A/C
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
MED25 mediator complex subunit 25
MFN2 mitofusin 2
MPZ myelin protein zero
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
MTMR2 myotubularin related protein 2
MYOT myotilin
NDRG1 N-myc downstream regulated 1
NEFL neurofilament, light polypeptide
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PMP22 peripheral myelin protein 22
PNPLA6 patatin-like phospholipase domain containing 6
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRX periaxin
RAB7A RAB7A, member RAS oncogene family
REEP1 receptor accessory protein 1
SACS sacsin molecular chaperone
SBF2 SET binding factor 2
SETX senataxin
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SOX10 SRY (sex determining region Y)-box 10
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG20 spastic paraplegia 20 (Troyer syndrome)
TCAP titin-cap
TDP1 tyrosyl-DNA phosphodiesterase 1
TIA1 TIA1 cytotoxic granule-associated RNA binding protein
TPM3 tropomyosin 3
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TYMP thymidine phosphorylase
VCP valosin containing protein
YARS tyrosyl-tRNA synthetase
ZBTB20 zinc finger and BTB domain containing 20
ZC4H2 zinc finger, C4H2 domain containing
ZFYVE26 zinc finger, FYVE domain containing 26