abnormality of muscle size Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormalities of the overall muscle bulk based on clinical observation. (Human Phenotype Ontology, HP_0030236)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0030236
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Genes

367 genes associated with the abnormality of muscle size phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AARS alanyl-tRNA synthetase
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABHD12 abhydrolase domain containing 12
ACADSB acyl-CoA dehydrogenase, short/branched chain
ADK adenosine kinase
ADSL adenylosuccinate lyase
AFG3L2 AFG3-like AAA ATPase 2
AGA aspartylglucosaminidase
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIP aryl hydrocarbon receptor interacting protein
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ANG angiogenin, ribonuclease, RNase A family, 5
ANO5 anoctamin 5
ANTXR2 anthrax toxin receptor 2
APTX aprataxin
AR androgen receptor
ARSB arylsulfatase B
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATL1 atlastin GTPase 1
ATM ATM serine/threonine kinase
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATRX alpha thalassemia/mental retardation syndrome X-linked
ATXN1 ataxin 1
ATXN2 ataxin 2
ATXN3 ataxin 3
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
BAG3 BCL2-associated athanogene 3
BIN1 bridging integrator 1
BMP1 bone morphogenetic protein 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C12ORF65 chromosome 12 open reading frame 65
C19ORF12 chromosome 19 open reading frame 12
C5ORF42 chromosome 5 open reading frame 42
C9ORF72 chromosome 9 open reading frame 72
CA8 carbonic anhydrase VIII
CAPN3 calpain 3, (p94)
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CD59 CD59 molecule, complement regulatory protein
CDKL5 cyclin-dependent kinase-like 5
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CEP126 centrosomal protein 126kDa
CEP57 centrosomal protein 57kDa
CHMP2B charged multivesicular body protein 2B
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLCN1 chloride channel, voltage-sensitive 1
CLCN7 chloride channel, voltage-sensitive 7
COASY CoA synthase
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COLEC11 collectin sub-family member 11
COX1
COX2
COX3
CPT1A carnitine palmitoyltransferase 1A (liver)
CTNS cystinosin, lysosomal cystine transporter
CUL4B cullin 4B
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DCAF8 DDB1 and CUL4 associated factor 8
DCTN1 dynactin 1
DES desmin
DMPK dystrophia myotonica-protein kinase
DNA2 DNA replication helicase/nuclease 2
DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2
DNM2 dynamin 2
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOK7 docking protein 7
DUX4 double homeobox 4
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYSF dysferlin
EGR2 early growth response 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ERBB3 erb-b2 receptor tyrosine kinase 3
ERLIN2 ER lipid raft associated 2
EXOSC3 exosome component 3
FAM111B family with sequence similarity 111, member B
FAM126A family with sequence similarity 126, member A
FAM134B family with sequence similarity 134, member B
FBN1 fibrillin 1
FBN2 fibrillin 2
FBXL4 F-box and leucine-rich repeat protein 4
FGD4 FYVE, RhoGEF and PH domain containing 4
FHL1 four and a half LIM domains 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP14 FK506 binding protein 14, 22 kDa
FKRP fukutin related protein
FKTN fukutin
FLNA filamin A, alpha
FLNC filamin C, gamma
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FRG1 FSHD region gene 1
FTO fat mass and obesity associated
FUCA1 fucosidase, alpha-L- 1, tissue
FUS FUS RNA binding protein
FUZ fuzzy planar cell polarity protein
GAA glucosidase, alpha; acid
GAN gigaxonin
GARS glycyl-tRNA synthetase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GBE1 glucan (1,4-alpha-), branching enzyme 1
GDAP1 ganglioside induced differentiation associated protein 1
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GHR growth hormone receptor
GJB1 gap junction protein, beta 1, 32kDa
GLB1 galactosidase, beta 1
GLE1 GLE1 RNA export mediator
GNAS GNAS complex locus
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPC3 glypican 3
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HEXB hexosaminidase B (beta polypeptide)
HMGA2 high mobility group AT-hook 2
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like
HRAS Harvey rat sarcoma viral oncogene homolog
HSPB1 heat shock 27kDa protein 1
HSPB3 heat shock 27kDa protein 3
HSPB8 heat shock 22kDa protein 8
HSPG2 heparan sulfate proteoglycan 2
IDS iduronate 2-sulfatase
IGHMBP2 immunoglobulin mu binding protein 2
INF2 inverted formin, FH2 and WH2 domain containing
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INSR insulin receptor
ISPD isoprenoid synthase domain containing
ITGA7 integrin, alpha 7
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KDM5C lysine (K)-specific demethylase 5C
KIF1A kinesin family member 1A
KIF1B kinesin family member 1B
KIF1C kinesin family member 1C
LAMP2 lysosomal-associated membrane protein 2
LARGE like-glycosyltransferase
LEMD3 LEM domain containing 3
LITAF lipopolysaccharide-induced TNF factor
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAMLD1 mastermind-like domain containing 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MECP2 methyl CpG binding protein 2
MED25 mediator complex subunit 25
MFN2 mitofusin 2
MGME1 mitochondrial genome maintenance exonuclease 1
MPZ myelin protein zero
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
MSTN myostatin
MT-ATP8 ATP synthase F0 subunit 8
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTAP methylthioadenosine phosphorylase
MTM1 myotubularin 1
MTMR2 myotubularin related protein 2
MYH14 myosin, heavy chain 14, non-muscle
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYOT myotilin
NAGA N-acetylgalactosaminidase, alpha-
NALCN sodium leak channel, non selective
NBN nibrin
ND1
NDE1 nudE neurodevelopment protein 1
NDRG1 N-myc downstream regulated 1
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NEFL neurofilament, light polypeptide
NEU1 sialidase 1 (lysosomal sialidase)
NLRP3 NLR family, pyrin domain containing 3
NSD1 nuclear receptor binding SET domain protein 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
NUBPL nucleotide binding protein-like
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
PABPN1 poly(A) binding protein, nuclear 1
PAX8 paired box 8
PDE11A phosphodiesterase 11A
PDE8B phosphodiesterase 8B
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PEX7 peroxisomal biogenesis factor 7
PFKM phosphofructokinase, muscle
PFN1 profilin 1
PHF6 PHD finger protein 6
PHGDH phosphoglycerate dehydrogenase
PHKA1 phosphorylase kinase, alpha 1 (muscle)
PHYH phytanoyl-CoA 2-hydroxylase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
PLEC plectin
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLIN1 perilipin 1
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PLP1 proteolipid protein 1
PMP22 peripheral myelin protein 22
PNKP polynucleotide kinase 3'-phosphatase
PNPLA6 patatin-like phospholipase domain containing 6
PNPT1 polyribonucleotide nucleotidyltransferase 1
POLG polymerase (DNA directed), gamma
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
POU1F1 POU class 1 homeobox 1
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRX periaxin
PSAT1 phosphoserine aminotransferase 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTEN phosphatase and tensin homolog
PTRF polymerase I and transcript release factor
PUS1 pseudouridylate synthase 1
RAB7A RAB7A, member RAS oncogene family
RAPSN receptor-associated protein of the synapse
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RBM28 RNA binding motif protein 28
RBM8A RNA binding motif protein 8A
REEP1 receptor accessory protein 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RYR1 ryanodine receptor 1 (skeletal)
SACS sacsin molecular chaperone
SALL4 spalt-like transcription factor 4
SBF2 SET binding factor 2
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SEPN1 selenoprotein N, 1
SEPT9 septin 9
SETBP1 SET binding protein 1
SETX senataxin
SFXN4 sideroflexin 4
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
SHOX short stature homeobox
SIGMAR1 sigma non-opioid intracellular receptor 1
SIL1 SIL1 nucleotide exchange factor
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SMAD4 SMAD family member 4
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SMN1 survival of motor neuron 1, telomeric
SNIP1 Smad nuclear interacting protein 1
SNX10 sorting nexin 10
SOD1 superoxide dismutase 1, soluble
SOX10 SRY (sex determining region Y)-box 10
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPTLC1 serine palmitoyltransferase, long chain base subunit 1
STAC3 SH3 and cysteine rich domain 3
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUCLG1 succinate-CoA ligase, alpha subunit
SYNE1 spectrin repeat containing, nuclear envelope 1
SYNE2 spectrin repeat containing, nuclear envelope 2
TARDBP TAR DNA binding protein
TBX3 T-box 3
TBX5 T-box 5
TCAP titin-cap
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TDP1 tyrosyl-DNA phosphodiesterase 1
TFG TRK-fused gene
TGFB1 transforming growth factor, beta 1
THRA thyroid hormone receptor, alpha
TIA1 TIA1 cytotoxic granule-associated RNA binding protein
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TK2 thymidine kinase 2, mitochondrial
TMEM43 transmembrane protein 43
TMEM5 transmembrane protein 5
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNNT1 troponin T type 1 (skeletal, slow)
TNXB tenascin XB
TPI1 triosephosphate isomerase 1
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRAF3IP2 TRAF3 interacting protein 2
TRIM32 tripartite motif containing 32
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSHB thyroid stimulating hormone, beta
TTC19 tetratricopeptide repeat domain 19
TTN titin
TTPA tocopherol (alpha) transfer protein
TYMP thymidine phosphorylase
UBE3A ubiquitin protein ligase E3A
VANGL1 VANGL planar cell polarity protein 1
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
VCP valosin containing protein
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VLDLR very low density lipoprotein receptor
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS33B vacuolar protein sorting 33 homolog B (yeast)
VRK1 vaccinia related kinase 1
WDR81 WD repeat domain 81
WNK1 WNK lysine deficient protein kinase 1
WNT5A wingless-type MMTV integration site family, member 5A
WRN Werner syndrome, RecQ helicase-like
YARS tyrosyl-tRNA synthetase
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
ZBTB20 zinc finger and BTB domain containing 20
ZC4H2 zinc finger, C4H2 domain containing
ZEB2 zinc finger E-box binding homeobox 2
ZFYVE26 zinc finger, FYVE domain containing 26