abnormality of the musculature of the 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:0009127
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Genes

151 genes associated with the abnormality of the musculature of the limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AARS alanyl-tRNA synthetase
ACTA1 actin, alpha 1, skeletal muscle
ADCY5 adenylate cyclase 5
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ALX3 ALX homeobox 3
ANO5 anoctamin 5
AP5Z1 adaptor-related protein complex 5, zeta 1 subunit
AR androgen receptor
ATL1 atlastin GTPase 1
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATRX alpha thalassemia/mental retardation syndrome X-linked
BICD2 bicaudal D homolog 2 (Drosophila)
BIN1 bridging integrator 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C10ORF2 chromosome 10 open reading frame 2
C19ORF12 chromosome 19 open reading frame 12
CAPN3 calpain 3, (p94)
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CD59 CD59 molecule, complement regulatory protein
CLCN1 chloride channel, voltage-sensitive 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
CRYAB crystallin, alpha B
CUL7 cullin 7
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DCTN1 dynactin 1
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DDHD1 DDHD domain containing 1
DDHD2 DDHD domain containing 2
DES desmin
DMD dystrophin
DNA2 DNA replication helicase/nuclease 2
DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYSF dysferlin
EGR2 early growth response 2
ERLIN2 ER lipid raft associated 2
EYA1 EYA transcriptional coactivator and phosphatase 1
FAM126A family with sequence similarity 126, member A
FBN2 fibrillin 2
FBXO38 F-box protein 38
FGD4 FYVE, RhoGEF and PH domain containing 4
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
FKTN fukutin
FLNA filamin A, alpha
FLNC filamin C, gamma
GARS glycyl-tRNA synthetase
GBA2 glucosidase, beta (bile acid) 2
GCH1 GTP cyclohydrolase 1
GDAP1 ganglioside induced differentiation associated protein 1
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
HINT1 histidine triad nucleotide binding protein 1
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like
HOXA13 homeobox A13
HSPB1 heat shock 27kDa protein 1
HSPB3 heat shock 27kDa protein 3
HSPD1 heat shock 60kDa protein 1 (chaperonin)
IGHMBP2 immunoglobulin mu binding protein 2
INF2 inverted formin, FH2 and WH2 domain containing
KANSL1 KAT8 regulatory NSL complex subunit 1
KARS lysyl-tRNA synthetase
KBTBD13 kelch repeat and BTB (POZ) domain containing 13
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KDM5C lysine (K)-specific demethylase 5C
KIAA0196 KIAA0196
KIF1A kinesin family member 1A
KIF1B kinesin family member 1B
KIF5A kinesin family member 5A
LBR lamin B receptor
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
LYST lysosomal trafficking regulator
MATR3 matrin 3
MFN2 mitofusin 2
MPZ myelin protein zero
MTAP methylthioadenosine phosphorylase
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYOT myotilin
NEB nebulin
NEFL neurofilament, light polypeptide
NF1 neurofibromin 1
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
PABPN1 poly(A) binding protein, nuclear 1
PAX1 paired box 1
PAX3 paired box 3
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PHYH phytanoyl-CoA 2-hydroxylase
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PLP1 proteolipid protein 1
PMP22 peripheral myelin protein 22
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POMT1 protein-O-mannosyltransferase 1
PRNP prion protein
PRX periaxin
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAB7A RAB7A, member RAS oncogene family
RBM8A RNA binding motif protein 8A
REEP1 receptor accessory protein 1
RPL11 ribosomal protein L11
RTN2 reticulon 2
SALL4 spalt-like transcription factor 4
SBF2 SET binding factor 2
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SMN1 survival of motor neuron 1, telomeric
SPAST spastin
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
STIM1 stromal interaction molecule 1
TARS2 threonyl-tRNA synthetase 2, mitochondrial (putative)
TBX3 T-box 3
TBX5 T-box 5
TCAP titin-cap
TK2 thymidine kinase 2, mitochondrial
TNPO3 transportin 3
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TREX1 three prime repair exonuclease 1
TRIM32 tripartite motif containing 32
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTN titin
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)
VCP valosin containing protein
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
YARS tyrosyl-tRNA synthetase
ZFYVE26 zinc finger, FYVE domain containing 26
ZFYVE27 zinc finger, FYVE domain containing 27