proximal amyotrophy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Amyotrophy (muscular atrophy) affecting the proximal musculature. (Human Phenotype Ontology, HP_0007126)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0007126
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Genes

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

Symbol Name
ANO5 anoctamin 5
CAPN3 calpain 3, (p94)
DOK7 docking protein 7
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
FKRP fukutin related protein
FUS FUS RNA binding protein
GFPT1 glutamine--fructose-6-phosphate transaminase 1
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like
MGME1 mitochondrial genome maintenance exonuclease 1
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SMN1 survival of motor neuron 1, telomeric
SYNE1 spectrin repeat containing, nuclear envelope 1
SYNE2 spectrin repeat containing, nuclear envelope 2
TCAP titin-cap
TFG TRK-fused gene
TMEM43 transmembrane protein 43
TNNT1 troponin T type 1 (skeletal, slow)
TNXB tenascin XB
TRPV4 transient receptor potential cation channel, subfamily V, member 4