abnormality of the musculature of the upper limbs Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001446
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57 genes associated with the abnormality of the musculature of the upper limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
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
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C19ORF12 chromosome 19 open reading frame 12
CAPN3 calpain 3, (p94)
CUL7 cullin 7
DCTN1 dynactin 1
DES desmin
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
EYA1 EYA transcriptional coactivator and phosphatase 1
FBXO38 F-box protein 38
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FHL1 four and a half LIM domains 1
FKRP fukutin related protein
FLNA filamin A, alpha
FLNC filamin C, gamma
GARS glycyl-tRNA synthetase
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like
HOXA13 homeobox A13
INF2 inverted formin, FH2 and WH2 domain containing
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
MATR3 matrin 3
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYOT myotilin
NEFL neurofilament, light polypeptide
NSDHL NAD(P) dependent steroid dehydrogenase-like
PAX1 paired box 1
PAX3 paired box 3
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RBM8A RNA binding motif protein 8A
RPL11 ribosomal protein L11
SALL4 spalt-like transcription factor 4
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SPG11 spastic paraplegia 11 (autosomal recessive)
STIM1 stromal interaction molecule 1
TBX3 T-box 3
TBX5 T-box 5
TCAP titin-cap
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