abnormality of muscle morphology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A structural abnormality of a skeletal muscle. (Human Phenotype Ontology, HP_0011805)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011805
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Genes

732 genes associated with the abnormality of muscle morphology 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
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ABHD12 abhydrolase domain containing 12
ABHD5 abhydrolase domain containing 5
ACACA acetyl-CoA carboxylase alpha
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACADSB acyl-CoA dehydrogenase, short/branched chain
ACADVL acyl-CoA dehydrogenase, very long chain
ACTA1 actin, alpha 1, skeletal muscle
ACTC1 actin, alpha, cardiac muscle 1
ACTG2 actin, gamma 2, smooth muscle, enteric
ACTN2 actinin, alpha 2
ADAMTSL2 ADAMTS-like 2
ADCK3 aarF domain containing kinase 3
ADK adenosine kinase
ADSL adenylosuccinate lyase
AFG3L2 AFG3-like AAA ATPase 2
AGA aspartylglucosaminidase
AGK acylglycerol kinase
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AIP aryl hydrocarbon receptor interacting protein
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDOA aldolase A, fructose-bisphosphate
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALPL alkaline phosphatase, liver/bone/kidney
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ALX3 ALX homeobox 3
AMER1 APC membrane recruitment protein 1
AMPD1 adenosine monophosphate deaminase 1
ANG angiogenin, ribonuclease, RNase A family, 5
ANO5 anoctamin 5
ANTXR2 anthrax toxin receptor 2
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4S1 adaptor-related protein complex 4, sigma 1 subunit
APTX aprataxin
AR androgen receptor
ARID1B AT rich interactive domain 1B (SWI1-like)
ARSB arylsulfatase B
ARX aristaless related homeobox
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASXL1 additional sex combs like transcriptional regulator 1
ATL1 atlastin GTPase 1
ATM ATM serine/threonine kinase
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATR ATR serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
ATXN1 ataxin 1
ATXN2 ataxin 2
ATXN3 ataxin 3
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
B3GNT1
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BAG3 BCL2-associated athanogene 3
BANF1 barrier to autointegration factor 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BCR breakpoint cluster region
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BICD2 bicaudal D homolog 2 (Drosophila)
BIN1 bridging integrator 1
BMP1 bone morphogenetic protein 1
BMP4 bone morphogenetic protein 4
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
C10ORF2 chromosome 10 open reading frame 2
C12ORF65 chromosome 12 open reading frame 65
C19ORF12 chromosome 19 open reading frame 12
C4A complement component 4A (Rodgers blood group)
C5ORF42 chromosome 5 open reading frame 42
C9ORF72 chromosome 9 open reading frame 72
CA8 carbonic anhydrase VIII
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CANT1 calcium activated nucleotidase 1
CAPN3 calpain 3, (p94)
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CCBE1 collagen and calcium binding EGF domains 1
CCR6 chemokine (C-C motif) receptor 6
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CD59 CD59 molecule, complement regulatory protein
CDC6 cell division cycle 6
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDKL5 cyclin-dependent kinase-like 5
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDT1 chromatin licensing and DNA replication factor 1
CEP126 centrosomal protein 126kDa
CEP57 centrosomal protein 57kDa
CFL2 cofilin 2 (muscle)
CHAT choline O-acetyltransferase
CHKB choline kinase beta
CHMP1A charged multivesicular body protein 1A
CHMP2B charged multivesicular body protein 2B
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CISD2 CDGSH iron sulfur domain 2
CLCF1 cardiotrophin-like cytokine factor 1
CLCN1 chloride channel, voltage-sensitive 1
CLCN7 chloride channel, voltage-sensitive 7
CLIC2 chloride intracellular channel 2
CLIP2 CAP-GLY domain containing linker protein 2
CNBP CCHC-type zinc finger, nucleic acid binding protein
CNTN1 contactin 1
COA5 cytochrome c oxidase assembly factor 5
COASY CoA synthase
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL12A1 collagen, type XII, alpha 1
COL17A1 collagen, type XVII, alpha 1
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, 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
COL7A1 collagen, type VII, alpha 1
COLEC11 collectin sub-family member 11
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COX1
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX2
COX20 COX20 cytochrome c oxidase assembly factor
COX3
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT2 carnitine palmitoyltransferase 2
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRLF1 cytokine receptor-like factor 1
CRYAB crystallin, alpha B
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTGF connective tissue growth factor
CTNS cystinosin, lysosomal cystine transporter
CUL4B cullin 4B
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DCAF8 DDB1 and CUL4 associated factor 8
DCTN1 dynactin 1
DDR2 discoidin domain receptor tyrosine kinase 2
DES desmin
DHCR24 24-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DLL3 delta-like 3 (Drosophila)
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
DNA2 DNA replication helicase/nuclease 2
DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
DNM2 dynamin 2
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOK7 docking protein 7
DOLK dolichol kinase
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3
DRD5 dopamine receptor D5
DSG2 desmoglein 2
DST dystonin
DUX4 double homeobox 4
DYM dymeclin
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYSF dysferlin
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
ECE1 endothelin converting enzyme 1
ECEL1 endothelin converting enzyme-like 1
EFNB1 ephrin-B1
EGR2 early growth response 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
EMD emerin
EMG1 EMG1 N1-specific pseudouridine methyltransferase
ENO3 enolase 3 (beta, muscle)
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERBB3 erb-b2 receptor tyrosine kinase 3
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ERLIN2 ER lipid raft associated 2
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EXOSC3 exosome component 3
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
F10 coagulation factor X
F7 coagulation factor VII (serum prothrombin conversion accelerator)
FAM111B family with sequence similarity 111, member B
FAM126A family with sequence similarity 126, member A
FAM134B family with sequence similarity 134, member B
FAM20C family with sequence similarity 20, member C
FASTKD2 FAST kinase domains 2
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FBN2 fibrillin 2
FBXL4 F-box and leucine-rich repeat protein 4
FERMT1 fermitin family member 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGD4 FYVE, RhoGEF and PH domain containing 4
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FHL1 four and a half LIM domains 1
FHL2 four and a half LIM domains 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP10 FK506 binding protein 10, 65 kDa
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
FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2
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
G6PC glucose-6-phosphatase, catalytic subunit
GAA glucosidase, alpha; acid
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GAN gigaxonin
GARS glycyl-tRNA synthetase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA3 GATA binding protein 3
GATAD1 GATA zinc finger domain containing 1
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCK glucokinase (hexokinase 4)
GCLC glutamate-cysteine ligase, catalytic subunit
GDAP1 ganglioside induced differentiation associated protein 1
GDF5 growth differentiation factor 5
GFER growth factor, augmenter of liver regeneration
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GJB1 gap junction protein, beta 1, 32kDa
GJB2 gap junction protein, beta 2, 26kDa
GK glycerol kinase
GLB1 galactosidase, beta 1
GLE1 GLE1 RNA export mediator
GLI3 GLI family zinc finger 3
GLUL glutamate-ammonia ligase
GMPPB GDP-mannose pyrophosphorylase B
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAS GNAS complex locus
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNPAT glyceronephosphate O-acyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNS glucosamine (N-acetyl)-6-sulfatase
GPC3 glypican 3
GPC4 glypican 4
GSC goosecoid homeobox
GTF2H5 general transcription factor IIH, polypeptide 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUSB glucuronidase, beta
GYS1 glycogen synthase 1 (muscle)
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HACD1 3-hydroxyacyl-CoA dehydratase 1
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HDAC8 histone deacetylase 8
HES7 hes family bHLH transcription factor 7
HEXB hexosaminidase B (beta polypeptide)
HLA-B major histocompatibility complex, class I, B
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMGA2 high mobility group AT-hook 2
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like
HOXD13 homeobox D13
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPB1 heat shock 27kDa protein 1
HSPB3 heat shock 27kDa protein 3
HSPB8 heat shock 22kDa protein 8
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HSPG2 heparan sulfate proteoglycan 2
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IGHMBP2 immunoglobulin mu binding protein 2
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL12RB2 interleukin 12 receptor, beta 2
IL23R interleukin 23 receptor
IMPAD1 inositol monophosphatase domain containing 1
INF2 inverted formin, FH2 and WH2 domain containing
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INS insulin
INSR insulin receptor
IRF5 interferon regulatory factor 5
ISCU iron-sulfur cluster assembly enzyme
ISPD isoprenoid synthase domain containing
ITCH itchy E3 ubiquitin protein ligase
ITGA6 integrin, alpha 6
ITGA7 integrin, alpha 7
ITGB4 integrin, beta 4
KAT6B K(lysine) acetyltransferase 6B
KBTBD13 kelch repeat and BTB (POZ) domain containing 13
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KDM5C lysine (K)-specific demethylase 5C
KIAA0319L KIAA0319-like
KIF1A kinesin family member 1A
KIF1B kinesin family member 1B
KIF1C kinesin family member 1C
KIF5C kinesin family member 5C
KLHL41 kelch-like family member 41
KRT1 keratin 1, type II
L1CAM L1 cell adhesion molecule
LAMA2 laminin, alpha 2
LAMA3 laminin, alpha 3
LAMA4 laminin, alpha 4
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LAMP2 lysosomal-associated membrane protein 2
LARGE like-glycosyltransferase
LBR lamin B receptor
LDB3 LIM domain binding 3
LDHA lactate dehydrogenase A
LEMD3 LEM domain containing 3
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LIAS lipoic acid synthetase
LIFR leukemia inhibitory factor receptor alpha
LIMK1 LIM domain kinase 1
LITAF lipopolysaccharide-induced TNF factor
LMBR1 limb development membrane protein 1
LMNA lamin A/C
LMNB2 lamin B2
LMX1B LIM homeobox transcription factor 1, beta
LPIN1 lipin 1
LPIN2 lipin 2
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAGEL2 melanoma antigen family L2
MAMLD1 mastermind-like domain containing 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MAPK1 mitogen-activated protein kinase 1
MATR3 matrin 3
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MED25 mediator complex subunit 25
MEFV Mediterranean fever
MEGF10 multiple EGF-like-domains 10
MEGF8 multiple EGF-like-domains 8
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MFN2 mitofusin 2
MGME1 mitochondrial genome maintenance exonuclease 1
MLH1 mutL homolog 1
MMP2 matrix metallopeptidase 2
MPZ myelin protein zero
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
MSH2 mutS homolog 2
MSH6 mutS homolog 6
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-TK tRNA
MT-TL1 tRNA
MT-TP tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTAP methylthioadenosine phosphorylase
MTM1 myotubularin 1
MTMR2 myotubularin related protein 2
MUSK muscle, skeletal, receptor tyrosine kinase
MYBPC1 myosin binding protein C, slow type
MYBPC3 myosin binding protein C, cardiac
MYF6 myogenic factor 6 (herculin)
MYH14 myosin, heavy chain 14, non-muscle
MYH2 myosin, heavy chain 2, skeletal muscle, adult
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYOT myotilin
MYPN myopalladin
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGA N-acetylgalactosaminidase, alpha-
NALCN sodium leak channel, non selective
NBN nibrin
ND1
NDE1 nudE neurodevelopment protein 1
NDN necdin, melanoma antigen (MAGE) family member
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
NEB nebulin
NEFL neurofilament, light polypeptide
NEU1 sialidase 1 (lysosomal sialidase)
NEXN nexilin (F actin binding protein)
NIPBL Nipped-B homolog (Drosophila)
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NOG noggin
NR0B1 nuclear receptor subfamily 0, group B, member 1
NSD1 nuclear receptor binding SET domain protein 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NT5C2 5'-nucleotidase, cytosolic II
NUBPL nucleotide binding protein-like
OCRL oculocerebrorenal syndrome of Lowe
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
OPA1 optic atrophy 1 (autosomal dominant)
ORAI1 ORAI calcium release-activated calcium modulator 1
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PABPN1 poly(A) binding protein, nuclear 1
PANK2 pantothenate kinase 2
PAX3 paired box 3
PAX8 paired box 8
PCNA proliferating cell nuclear antigen
PDE11A phosphodiesterase 11A
PDE8B phosphodiesterase 8B
PET100 PET100 homolog (S. cerevisiae)
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
PGAM2 phosphoglycerate mutase 2 (muscle)
PGK1 phosphoglycerate kinase 1
PGM1 phosphoglucomutase 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
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
PITX1 paired-like homeodomain 1
PLEC plectin
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLIN1 perilipin 1
PLN phospholamban
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PLP1 proteolipid protein 1
PMM2 phosphomannomutase 2
PMP22 peripheral myelin protein 22
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNKP polynucleotide kinase 3'-phosphatase
PNPLA2 patatin-like phospholipase domain containing 2
PNPLA6 patatin-like phospholipase domain containing 6
PNPT1 polyribonucleotide nucleotidyltransferase 1
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
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
POR P450 (cytochrome) oxidoreductase
PORCN porcupine homolog (Drosophila)
POU1F1 POU class 1 homeobox 1
PPT1 palmitoyl-protein thioesterase 1
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PRG4 proteoglycan 4
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRX periaxin
PSAT1 phosphoserine aminotransferase 1
PSEN1 presenilin 1
PSEN2 presenilin 2
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTRF polymerase I and transcript release factor
PUS1 pseudouridylate synthase 1
PYCR1 pyrroline-5-carboxylate reductase 1
PYGM phosphorylase, glycogen, muscle
RAB18 RAB18, member RAS oncogene family
RAB23 RAB23, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAB7A RAB7A, member RAS oncogene family
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAPSN receptor-associated protein of the synapse
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RBM20 RNA binding motif protein 20
RBM28 RNA binding motif protein 28
RBM8A RNA binding motif protein 8A
REEP1 receptor accessory protein 1
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RNR1 RNA, ribosomal cluster 1
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RUNX2 runt-related transcription factor 2
RYR1 ryanodine receptor 1 (skeletal)
SACS sacsin molecular chaperone
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SARS2 seryl-tRNA synthetase 2, mitochondrial
SATB2 SATB homeobox 2
SBF2 SET binding factor 2
SCARF2 scavenger receptor class F, member 2
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SEPN1 selenoprotein N, 1
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
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)
SH3PXD2B SH3 and PX domains 2B
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SHH sonic hedgehog
SHOX short stature homeobox
SIGMAR1 sigma non-opioid intracellular receptor 1
SIL1 SIL1 nucleotide exchange factor
SKI SKI proto-oncogene
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
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
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SMN1 survival of motor neuron 1, telomeric
SMOC1 SPARC related modular calcium binding 1
SMS spermine synthase
SNIP1 Smad nuclear interacting protein 1
SNRPN small nuclear ribonucleoprotein polypeptide N
SNX10 sorting nexin 10
SOD1 superoxide dismutase 1, soluble
SOX10 SRY (sex determining region Y)-box 10
SPEG SPEG complex locus
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPTLC1 serine palmitoyltransferase, long chain base subunit 1
SRCAP Snf2-related CREBBP activator protein
SRD5A3 steroid 5 alpha-reductase 3
STAC3 SH3 and cysteine rich domain 3
STAT4 signal transducer and activator of transcription 4
STIM1 stromal interaction molecule 1
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
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TARDBP TAR DNA binding protein
TAZ tafazzin
TBC1D20 TBC1 domain family, member 20
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TBX15 T-box 15
TBX2 T-box 2
TBX3 T-box 3
TBX4 T-box 4
TBX5 T-box 5
TCAP titin-cap
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCTN3 tectonic family member 3
TDP1 tyrosyl-DNA phosphodiesterase 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFG TRK-fused gene
TGFB1 transforming growth factor, beta 1
TGFB3 transforming growth factor, beta 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGM1 transglutaminase 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
TLR4 toll-like receptor 4
TMEM173 transmembrane protein 173
TMEM43 transmembrane protein 43
TMEM5 transmembrane protein 5
TMEM70 transmembrane protein 70
TMPO thymopoietin
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNNC1 troponin C type 1 (slow)
TNNI2 troponin I type 2 (skeletal, fast)
TNNI3 troponin I type 3 (cardiac)
TNNT1 troponin T type 1 (skeletal, slow)
TNNT2 troponin T type 2 (cardiac)
TNNT3 troponin T type 3 (skeletal, fast)
TNPO3 transportin 3
TNXB tenascin XB
TP63 tumor protein p63
TPI1 triosephosphate isomerase 1
TPM1 tropomyosin 1 (alpha)
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRAF3IP2 TRAF3 interacting protein 2
TRIM2 tripartite motif containing 2
TRIM32 tripartite motif containing 32
TRPS1 trichorhinophalangeal syndrome I
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TSFM Ts translation elongation factor, mitochondrial
TSHB thyroid stimulating hormone, beta
TTC19 tetratricopeptide repeat domain 19
TTN titin
TTPA tocopherol (alpha) transfer protein
TUBB3 tubulin, beta 3 class III
TXNRD2 thioredoxin reductase 2
TYMP thymidine phosphorylase
UBA1 ubiquitin-like modifier activating enzyme 1
UBE3A ubiquitin protein ligase E3A
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
UROS uroporphyrinogen III synthase
VANGL1 VANGL planar cell polarity protein 1
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
VCL vinculin
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)
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)
VRK1 vaccinia related kinase 1
VTI1A vesicle transport through interaction with t-SNAREs 1A
WDR81 WD repeat domain 81
WFS1 Wolfram syndrome 1 (wolframin)
WISP3 WNT1 inducible signaling pathway protein 3
WNK1 WNK lysine deficient protein kinase 1
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
WRN Werner syndrome, RecQ helicase-like
XDH xanthine dehydrogenase
XYLT1 xylosyltransferase I
YARS tyrosyl-tRNA synthetase
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
ZBTB20 zinc finger and BTB domain containing 20
ZC4H2 zinc finger, C4H2 domain containing
ZDHHC9 zinc finger, DHHC-type containing 9
ZEB2 zinc finger E-box binding homeobox 2
ZFYVE26 zinc finger, FYVE domain containing 26
ZMPSTE24 zinc metallopeptidase STE24
ZNF335 zinc finger protein 335
ZNF592 zinc finger protein 592