muscular hypotonia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching. (Human Phenotype Ontology, HP_0001252)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001252
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Genes

707 genes associated with the muscular hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
AAAS achalasia, adrenocortical insufficiency, alacrimia
AASS aminoadipate-semialdehyde synthase
ABAT 4-aminobutyrate aminotransferase
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ACAD8 acyl-CoA dehydrogenase family, member 8
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
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
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACP2 acid phosphatase 2, lysosomal
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTA1 actin, alpha 1, skeletal muscle
ACTB actin, beta
ACY1 aminoacylase 1
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADCY5 adenylate cyclase 5
ADCY6 adenylate cyclase 6
AGA aspartylglucosaminidase
AGK acylglycerol kinase
AHI1 Abelson helper integration site 1
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ALAD aminolevulinate dehydratase
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG11 ALG11, alpha-1,2-mannosyltransferase
ALG12 ALG12, alpha-1,6-mannosyltransferase
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALG6 ALG6, alpha-1,3-glucosyltransferase
ALG9 ALG9, alpha-1,2-mannosyltransferase
ALPL alkaline phosphatase, liver/bone/kidney
AMER1 APC membrane recruitment protein 1
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
AMPD1 adenosine monophosphate deaminase 1
AMPD2 adenosine monophosphate deaminase 2
AMT aminomethyltransferase
ANOS1 anosmin 1
ANTXR2 anthrax toxin receptor 2
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP4B1 adaptor-related protein complex 4, beta 1 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4M1 adaptor-related protein complex 4, mu 1 subunit
AR androgen receptor
ARHGAP31 Rho GTPase activating protein 31
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL13B ADP-ribosylation factor-like 13B
ARSA arylsulfatase A
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ARX aristaless related homeobox
ASCL1 achaete-scute family bHLH transcription factor 1
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASPA aspartoacylase
ASXL1 additional sex combs like transcriptional regulator 1
ATCAY ataxia, cerebellar, Cayman type
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATP10A ATPase, class V, type 10A
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
ATRX alpha thalassemia/mental retardation syndrome X-linked
ATXN1 ataxin 1
ATXN2 ataxin 2
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
B3GNT1
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
B9D1 B9 protein domain 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BDNF brain-derived neurotrophic factor
BIN1 bridging integrator 1
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BMPER BMP binding endothelial regulator
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRWD3 bromodomain and WD repeat domain containing 3
BSND barttin CLCNK-type chloride channel accessory beta subunit
BTD biotinidase
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
C5ORF42 chromosome 5 open reading frame 42
CA8 carbonic anhydrase VIII
CAMKMT calmodulin-lysine N-methyltransferase
CAMTA1 calmodulin binding transcription activator 1
CANT1 calcium activated nucleotidase 1
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CASR calcium-sensing receptor
CC2D2A coiled-coil and C2 domain containing 2A
CCDC22 coiled-coil domain containing 22
CD96 CD96 molecule
CDKL5 cyclin-dependent kinase-like 5
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CEP57 centrosomal protein 57kDa
CFL2 cofilin 2 (muscle)
CHAT choline O-acetyltransferase
CHD7 chromodomain helicase DNA binding protein 7
CHKB choline kinase beta
CHL1 cell adhesion molecule L1-like
CHMP1A charged multivesicular body protein 1A
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CLCNKA chloride channel, voltage-sensitive Ka
CLCNKB chloride channel, voltage-sensitive Kb
CLIP2 CAP-GLY domain containing linker protein 2
CNTN1 contactin 1
CNTN4 contactin 4
CNTNAP1 contactin associated protein 1
COA5 cytochrome c oxidase assembly factor 5
COG1 component of oligomeric golgi complex 1
COG4 component of oligomeric golgi complex 4
COG5 component of oligomeric golgi complex 5
COG6 component of oligomeric golgi complex 6
COG7 component of oligomeric golgi complex 7
COG8 component of oligomeric golgi complex 8
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
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
COMT catechol-O-methyltransferase
COX1
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX2
COX20 COX20 cytochrome c oxidase assembly factor
COX3
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT2 carnitine palmitoyltransferase 2
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRBN cereblon
CREBBP CREB binding protein
CRX cone-rod homeobox
CSPP1 centrosome and spindle pole associated protein 1
CTNND2 catenin (cadherin-associated protein), delta 2
CYFIP1 cytoplasmic FMR1 interacting protein 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
D2HGDH D-2-hydroxyglutarate dehydrogenase
DARS aspartyl-tRNA synthetase
DBT dihydrolipoamide branched chain transacylase E2
DCX doublecortin
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DDR2 discoidin domain receptor tyrosine kinase 2
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DGUOK deoxyguanosine kinase
DHCR7 7-dehydrocholesterol reductase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DLAT dihydrolipoamide S-acetyltransferase
DLD dihydrolipoamide dehydrogenase
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
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
DPYD dihydropyrimidine dehydrogenase
DRD2 dopamine receptor D2
DST dystonin
DUOX2 dual oxidase 2
DUOXA2 dual oxidase maturation factor 2
DUSP6 dual specificity phosphatase 6
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
EDN3 endothelin 3
EDNRB endothelin receptor type B
EFNB1 ephrin-B1
EGR2 early growth response 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
ELN elastin
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ERCC6L2 excision repair cross-complementation group 6-like 2
ERF Ets2 repressor factor
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
ETHE1 ethylmalonic encephalopathy 1
EXOSC3 exosome component 3
EXT1 exostosin glycosyltransferase 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM111A family with sequence similarity 111, member A
FAM126A family with sequence similarity 126, member A
FASTKD2 FAST kinase domains 2
FBN1 fibrillin 1
FBP1 fructose-1,6-bisphosphatase 1
FEZF1 FEZ family zinc finger 1
FGF17 fibroblast growth factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP14 FK506 binding protein 14, 22 kDa
FKRP fukutin related protein
FKTN fukutin
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLRT3 fibronectin leucine rich transmembrane protein 3
FMR1 fragile X mental retardation 1
FOXE1 forkhead box E1
FOXG1 forkhead box G1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FUCA1 fucosidase, alpha-L- 1, tissue
GAA glucosidase, alpha; acid
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALC galactosylceramidase
GALE UDP-galactose-4-epimerase
GAMT guanidinoacetate N-methyltransferase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCDH glutaryl-CoA dehydrogenase
GCH1 GTP cyclohydrolase 1
GCK glucokinase (hexokinase 4)
GCSH glycine cleavage system protein H (aminomethyl carrier)
GDF6 growth differentiation factor 6
GDNF glial cell derived neurotrophic factor
GFM1 G elongation factor, mitochondrial 1
GJC2 gap junction protein, gamma 2, 47kDa
GLDC glycine dehydrogenase (decarboxylating)
GLYCTK glycerate kinase
GM2A GM2 ganglioside activator
GMPPA GDP-mannose pyrophosphorylase A
GMPPB GDP-mannose pyrophosphorylase B
GNPAT glyceronephosphate O-acyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GORAB golgin, RAB6-interacting
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
GUSB glucuronidase, beta
HACD1 3-hydroxyacyl-CoA dehydratase 1
HADH hydroxyacyl-CoA dehydrogenase
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
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HESX1 HESX homeobox 1
HEXA hexosaminidase A (alpha polypeptide)
HIBCH 3-hydroxyisobutyryl-CoA hydrolase
HIRA histone cell cycle regulator
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HMGA2 high mobility group AT-hook 2
HPD 4-hydroxyphenylpyruvate dioxygenase
HPRT1 hypoxanthine phosphoribosyltransferase 1
HRAS Harvey rat sarcoma viral oncogene homolog
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPD1 heat shock 60kDa protein 1 (chaperonin)
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IDUA iduronidase, alpha-L-
IFIH1 interferon induced with helicase C domain 1
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL17RD interleukin 17 receptor D
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INPPL1 inositol polyphosphate phosphatase-like 1
INS insulin
IQCB1 IQ motif containing B1
ISPD isoprenoid synthase domain containing
ITGA7 integrin, alpha 7
IYD iodotyrosine deiodinase
KANK1 KN motif and ankyrin repeat domains 1
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNC3 potassium channel, voltage gated Shaw related subfamily C, member 3
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
KCNK9 potassium channel, two pore domain subfamily K, member 9
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KDM5C lysine (K)-specific demethylase 5C
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIAA2022 KIAA2022
KIF11 kinesin family member 11
KIF1A kinesin family member 1A
KIF1BP KIF1 binding protein
KIF22 kinesin family member 22
KIF7 kinesin family member 7
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
L2HGDH L-2-hydroxyglutarate dehydrogenase
LAMA2 laminin, alpha 2
LAMB2 laminin, beta 2 (laminin S)
LARGE like-glycosyltransferase
LCA5 Leber congenital amaurosis 5
LEMD3 LEM domain containing 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
LIFR leukemia inhibitory factor receptor alpha
LIMK1 LIM domain kinase 1
LMBRD1 LMBR1 domain containing 1
LMNA lamin A/C
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRP5 low density lipoprotein receptor-related protein 5
LRPPRC leucine-rich pentatricopeptide repeat containing
LTC4S leukotriene C4 synthase
LYRM4 LYR motif containing 4
MAGEL2 melanoma antigen family L2
MAMLD1 mastermind-like domain containing 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MANBA mannosidase, beta A, lysosomal
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MBD5 methyl-CpG binding domain protein 5
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MCOLN1 mucolipin 1
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEF2C myocyte enhancer factor 2C
MEGF10 multiple EGF-like-domains 10
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MIPOL1 mirror-image polydactyly 1
MKS1 Meckel syndrome, type 1
MLH1 mutL homolog 1
MLYCD malonyl-CoA decarboxylase
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MOGS mannosyl-oligosaccharide glucosidase
MPDU1 mannose-P-dolichol utilization defect 1
MPI mannose phosphate isomerase
MPLKIP M-phase specific PLK1 interacting protein
MPST mercaptopyruvate sulfurtransferase
MPZ myelin protein zero
MRPS16 mitochondrial ribosomal protein S16
MRPS22 mitochondrial ribosomal protein S22
MSH2 mutS homolog 2
MSH6 mutS homolog 6
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
MTM1 myotubularin 1
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MTTP microsomal triglyceride transfer protein
MUSK muscle, skeletal, receptor tyrosine kinase
MUT methylmalonyl CoA mutase
MVK mevalonate kinase
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYO5A myosin VA (heavy chain 12, myoxin)
NAGA N-acetylgalactosaminidase, alpha-
NALCN sodium leak channel, non selective
NBAS neuroblastoma amplified sequence
ND1
NDN necdin, melanoma antigen (MAGE) family member
NDP Norrie disease (pseudoglioma)
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
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
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
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)
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NEB nebulin
NECAP1 NECAP endocytosis associated 1
NELFA negative elongation factor complex member A
NEU1 sialidase 1 (lysosomal sialidase)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NKX2-1 NK2 homeobox 1
NKX2-5 NK2 homeobox 5
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPHP1 nephronophthisis 1 (juvenile)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NTNG1 netrin G1
NUBPL nucleotide binding protein-like
OCA2 oculocutaneous albinism II
OCLN occludin
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
OPHN1 oligophrenin 1
ORAI1 ORAI calcium release-activated calcium modulator 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAX6 paired box 6
PAX8 paired box 8
PC pyruvate carboxylase
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHB pyruvate dehydrogenase (lipoamide) beta
PDHX pyruvate dehydrogenase complex, component X
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
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
PGAP1 post-GPI attachment to proteins 1
PHF6 PHD finger protein 6
PHKB phosphorylase kinase, beta
PHKG2 phosphorylase kinase, gamma 2 (testis)
PHOX2B paired-like homeobox 2b
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
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLP1 proteolipid protein 1
PMM2 phosphomannomutase 2
PMP22 peripheral myelin protein 22
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNP purine nucleoside phosphorylase
PNPLA6 patatin-like phospholipase domain containing 6
PNPO pyridoxamine 5'-phosphate oxidase
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
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B
PPT1 palmitoyl-protein thioesterase 1
PRDM16 PR domain containing 16
PREPL prolyl endopeptidase-like
PRODH proline dehydrogenase (oxidase) 1
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PROP1 PROP paired-like homeobox 1
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRRT2 proline-rich transmembrane protein 2
PRX periaxin
PSAP prosaposin
PTCH1 patched 1
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTS 6-pyruvoyltetrahydropterin synthase
PUS1 pseudouridylate synthase 1
PYCR1 pyrroline-5-carboxylate reductase 1
QDPR quinoid dihydropteridine reductase
RAB18 RAB18, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD21 RAD21 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RAPSN receptor-associated protein of the synapse
RARB retinoic acid receptor, beta
RB1 retinoblastoma 1
RD3 retinal degeneration 3
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RFT1 RFT1 homolog (S. cerevisiae)
RIN2 Ras and Rab interactor 2
RIT1 Ras-like without CAAX 1
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNF216 ring finger protein 216
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RYR1 ryanodine receptor 1 (skeletal)
SATB2 SATB homeobox 2
SC5D sterol-C5-desaturase
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCO2 SCO2 cytochrome c oxidase assembly protein
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SEPN1 selenoprotein N, 1
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETBP1 SET binding protein 1
SGCE sarcoglycan, epsilon
SH2B1 SH2B adaptor protein 1
SHANK3 SH3 and multiple ankyrin repeat domains 3
SIL1 SIL1 nucleotide exchange factor
SIM1 single-minded family bHLH transcription factor 1
SIX3 SIX homeobox 3
SIX6 SIX homeobox 6
SKI SKI proto-oncogene
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC13A5 solute carrier family 13 (sodium-dependent citrate transporter), member 5
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
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
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SMS spermine synthase
SNAI2 snail family zinc finger 2
SNAP29 synaptosomal-associated protein, 29kDa
SNRPN small nuclear ribonucleoprotein polypeptide N
SOS1 son of sevenless homolog 1 (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
SOX11 SRY (sex determining region Y)-box 11
SOX2 SRY (sex determining region Y)-box 2
SOX9 SRY (sex determining region Y)-box 9
SPATA7 spermatogenesis associated 7
SPEG SPEG complex locus
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
SPRY4 sprouty homolog 4 (Drosophila)
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STIM1 stromal interaction molecule 1
STRA6 stimulated by retinoic acid 6
STRADA STE20-related kinase adaptor alpha
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUCLG1 succinate-CoA ligase, alpha subunit
SUMF1 sulfatase modifying factor 1
SUOX sulfite oxidase
SURF1 surfeit 1
SYNGAP1 synaptic Ras GTPase activating protein 1
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TACR3 tachykinin receptor 3
TARS2 threonyl-tRNA synthetase 2, mitochondrial (putative)
TBC1D20 TBC1 domain family, member 20
TBC1D24 TBC1 domain family, member 24
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX2 T-box 2
TBX4 T-box 4
TCF4 transcription factor 4
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TG thyroglobulin
TH tyrosine hydroxylase
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TK2 thymidine kinase 2, mitochondrial
TMCO1 transmembrane and coiled-coil domains 1
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
TNXB tenascin XB
TOR1A torsin family 1, member A (torsin A)
TPI1 triosephosphate isomerase 1
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TPO thyroid peroxidase
TREX1 three prime repair exonuclease 1
TRHR thyrotropin-releasing hormone receptor
TRIM2 tripartite motif containing 2
TRIM37 tripartite motif containing 37
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSFM Ts translation elongation factor, mitochondrial
TSHB thyroid stimulating hormone, beta
TSHR thyroid stimulating hormone receptor
TUBA8 tubulin, alpha 8
TUBB3 tubulin, beta 3 class III
TUBB4A tubulin, beta 4A class IVa
TULP1 tubby like protein 1
UBA1 ubiquitin-like modifier activating enzyme 1
UBE3A ubiquitin protein ligase E3A
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
UPB1 ureidopropionase, beta
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
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)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
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
WDR11 WD repeat domain 11
WDR81 WD repeat domain 81
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNK1 WNK lysine deficient protein kinase 1
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZDHHC15 zinc finger, DHHC-type containing 15
ZDHHC9 zinc finger, DHHC-type containing 9
ZEB2 zinc finger E-box binding homeobox 2
ZNF423 zinc finger protein 423