Proximal Amyotrophy Gene Set
Genes
28 genes associated with the disease Proximal Amyotrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol |
Name |
|
CAPN3
|
calpain 3, (p94)
|
|
COL12A1
|
collagen, type XII, alpha 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
DOK7
|
docking protein 7
|
|
DYSF
|
dysferlin
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FUS
|
FUS RNA binding protein
|
|
GFPT1
|
glutamine--fructose-6-phosphate transaminase 1
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
|
MYOT
|
myotilin
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SGCB
|
sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
|
|
SGCD
|
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
STIM1
|
stromal interaction molecule 1
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
SYNE2
|
spectrin repeat containing, nuclear envelope 2
|
|
TFG
|
TRK-fused gene
|
|
TMEM43
|
transmembrane protein 43
|
|
TNNT1
|
troponin T type 1 (skeletal, slow)
|
