Generalized Amyotrophy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles. (Human Phenotype Ontology, HP_0003700)
External Link https://www.disgenet.org/browser/0/1/0/C1389113
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Genes

56 genes associated with the disease Generalized Amyotrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACADSB acyl-CoA dehydrogenase, short/branched chain
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
BAG3 BCL2-associated athanogene 3
BIN1 bridging integrator 1
C9ORF72 chromosome 9 open reading frame 72
CAPN3 calpain 3, (p94)
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10
COL12A1 collagen, type XII, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
DNA2 DNA replication helicase/nuclease 2
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DOK7 docking protein 7
FUS FUS RNA binding protein
GPR35 G protein-coupled receptor 35
HNRNPA1 heterogeneous nuclear ribonucleoprotein A1
HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1
LAMP2 lysosomal-associated membrane protein 2
LMNA lamin A/C
LMNB2 lamin B2
MGME1 mitochondrial genome maintenance exonuclease 1
MST1 macrophage stimulating 1
MUSK muscle, skeletal, receptor tyrosine kinase
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYOD1 myogenic differentiation 1
MYPN myopalladin
NAGA N-acetylgalactosaminidase, alpha-
NUP88 nucleoporin 88kDa
PEX5 peroxisomal biogenesis factor 5
PGAP1 post-GPI attachment to proteins 1
POLG polymerase (DNA directed), gamma
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POMT1 protein-O-mannosyltransferase 1
PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1
RAPSN receptor-associated protein of the synapse
RBM28 RNA binding motif protein 28
RYR1 ryanodine receptor 1 (skeletal)
SELENON selenoprotein N
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SPEG SPEG complex locus
SPTBN4 spectrin, beta, non-erythrocytic 4
SPTLC1 serine palmitoyltransferase, long chain base subunit 1
SQSTM1 sequestosome 1
TARDBP TAR DNA binding protein
TBK1 TANK-binding kinase 1
TCF4 transcription factor 4
TK2 thymidine kinase 2, mitochondrial
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRIP4 thyroid hormone receptor interactor 4
TTN titin
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)
VCP valosin containing protein
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial