abnormality of the shoulder girdle musculature Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001435
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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