Distal Lower Limb Amyotrophy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Muscular atrophy of distal leg muscles. (Human Phenotype Ontology, HP_0008944)
External Link https://www.disgenet.org/browser/0/1/0/C1836451
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Genes

28 genes associated with the disease Distal Lower Limb Amyotrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ADSSL1 adenylosuccinate synthase like 1
ATL1 atlastin GTPase 1
ATXN3 ataxin 3
BICD2 bicaudal D homolog 2 (Drosophila)
CAPN1 calpain 1, (mu/I) large subunit
CPT1C carnitine palmitoyltransferase 1C
CUL4B cullin 4B
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
FGD4 FYVE, RhoGEF and PH domain containing 4
FLNC filamin C, gamma
FLRT1 fibronectin leucine rich transmembrane protein 1
GJB1 gap junction protein, beta 1, 32kDa
HINT1 histidine triad nucleotide binding protein 1
HSPB1 heat shock 27kDa protein 1
INF2 inverted formin, FH2 and WH2 domain containing
KDM5C lysine (K)-specific demethylase 5C
KIF5A kinesin family member 5A
KLC2 kinesin light chain 2
LMNA lamin A/C
MAG myelin associated glycoprotein
MFN2 mitofusin 2
MPV17 MpV17 mitochondrial inner membrane protein
MPZ myelin protein zero
PDK3 pyruvate dehydrogenase kinase, isozyme 3
TCAP titin-cap
TFG TRK-fused gene
TPM3 tropomyosin 3