abnormality of the shoulder girdle musculature Gene Set
Genes
36 genes associated with the abnormality of the shoulder girdle musculature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
ALX3
|
ALX homeobox 3
|
|
ANO5
|
anoctamin 5
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
BIN1
|
bridging integrator 1
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
CAPN3
|
calpain 3, (p94)
|
|
CUL7
|
cullin 7
|
|
DES
|
desmin
|
|
DNAJB6
|
DnaJ (Hsp40) homolog, subfamily B, member 6
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
FHL1
|
four and a half LIM domains 1
|
|
FKRP
|
fukutin related protein
|
|
FLNA
|
filamin A, alpha
|
|
HNRNPDL
|
heterogeneous nuclear ribonucleoprotein D-like
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
LMNA
|
lamin A/C
|
|
MATR3
|
matrin 3
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYOT
|
myotilin
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
PAX1
|
paired box 1
|
|
PAX3
|
paired box 3
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SGCB
|
sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
|
|
SGCD
|
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
|
|
TBX3
|
T-box 3
|
|
TBX5
|
T-box 5
|
|
TNPO3
|
transportin 3
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
VCP
|
valosin containing protein
|
