Distal Arthrogryposis Syndrome Gene Set
Genes
22 genes associated with the disease Distal Arthrogryposis Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol |
Name |
|
ACADM
|
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
|
|
ATAD1
|
ATPase family, AAA domain containing 1
|
|
CCDC47
|
coiled-coil domain containing 47
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
ECEL1
|
endothelin converting enzyme-like 1
|
|
FBN2
|
fibrillin 2
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
GLI3
|
GLI family zinc finger 3
|
|
KLHL7
|
kelch-like family member 7
|
|
LGI4
|
leucine-rich repeat LGI family, member 4
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MYBPC1
|
myosin binding protein C, slow type
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
MYH8
|
myosin, heavy chain 8, skeletal muscle, perinatal
|
|
NALCN
|
sodium leak channel, non selective
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
TNNI2
|
troponin I type 2 (skeletal, fast)
|
|
TNNT3
|
troponin T type 3 (skeletal, fast)
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
