generalized amyotrophy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles. (Human Phenotype Ontology, HP_0003700)
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22 genes associated with the generalized amyotrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACADSB acyl-CoA dehydrogenase, short/branched chain
BAG3 BCL2-associated athanogene 3
BIN1 bridging integrator 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
DOK7 docking protein 7
LAMP2 lysosomal-associated membrane protein 2
LMNA lamin A/C
MGME1 mitochondrial genome maintenance exonuclease 1
MYH7 myosin, heavy chain 7, cardiac muscle, beta
NAGA N-acetylgalactosaminidase, alpha-
POLG polymerase (DNA directed), gamma
PUS1 pseudouridylate synthase 1
RAPSN receptor-associated protein of the synapse
SEPN1 selenoprotein N, 1
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TK2 thymidine kinase 2, mitochondrial
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial