onset Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The age group in which disease manifestations appear. (Human Phenotype Ontology, HP_0003674)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003674
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Genes

616 genes associated with the onset phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
AAGAB alpha- and gamma-adaptin binding protein
AASS aminoadipate-semialdehyde synthase
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ABHD12 abhydrolase domain containing 12
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACADSB acyl-CoA dehydrogenase, short/branched chain
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACP5 acid phosphatase 5, tartrate resistant
ACTA1 actin, alpha 1, skeletal muscle
ACTG1 actin gamma 1
ADAR adenosine deaminase, RNA-specific
ADAT3 adenosine deaminase, tRNA-specific 3
ADCY5 adenylate cyclase 5
ADGRV1 adhesion G protein-coupled receptor V1
ADK adenosine kinase
ADSL adenylosuccinate lyase
AFG3L2 AFG3-like AAA ATPase 2
AGK acylglycerol kinase
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIRE autoimmune regulator
AKR1D1 aldo-keto reductase family 1, member D1
AKT2 v-akt murine thymoma viral oncogene homolog 2
ALAS2 5'-aminolevulinate synthase 2
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALG11 ALG11, alpha-1,2-mannosyltransferase
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AMACR alpha-methylacyl-CoA racemase
AMN amnion associated transmembrane protein
ANKH ANKH inorganic pyrophosphate transport regulator
ANO5 anoctamin 5
AP1S1 adaptor-related protein complex 1, sigma 1 subunit
AP3B1 adaptor-related protein complex 3, beta 1 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
AP4S1 adaptor-related protein complex 4, sigma 1 subunit
APOE apolipoprotein E
APTX aprataxin
AQP2 aquaporin 2 (collecting duct)
AR androgen receptor
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10
ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASL argininosuccinate lyase
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ASS1 argininosuccinate synthase 1
ATL1 atlastin GTPase 1
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP5A1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
ATXN1 ataxin 1
AUH AU RNA binding protein/enoyl-CoA hydratase
AVPR2 arginine vasopressin receptor 2
B3GNT1
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BEAN1 brain expressed, associated with NEDD4, 1
BIN1 bridging integrator 1
BLNK B-cell linker
BRAF B-Raf proto-oncogene, serine/threonine kinase
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BSND barttin CLCNK-type chloride channel accessory beta subunit
C10ORF2 chromosome 10 open reading frame 2
C12ORF57 chromosome 12 open reading frame 57
C9ORF72 chromosome 9 open reading frame 72
CA12 carbonic anhydrase XII
CA8 carbonic anhydrase VIII
CARD11 caspase recruitment domain family, member 11
CASP10 caspase 10, apoptosis-related cysteine peptidase
CAV3 caveolin 3
CC2D1A coiled-coil and C2 domain containing 1A
CC2D2A coiled-coil and C2 domain containing 2A
CCDC103 coiled-coil domain containing 103
CCDC88C coiled-coil domain containing 88C
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CD3D CD3d molecule, delta (CD3-TCR complex)
CD3E CD3e molecule, epsilon (CD3-TCR complex)
CD79B CD79b molecule, immunoglobulin-associated beta
CD8A CD8a molecule
CDKL5 cyclin-dependent kinase-like 5
CDSN corneodesmosin
CENPJ centromere protein J
CEP135 centrosomal protein 135kDa
CFH complement factor H
CFI complement factor I
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)
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
CIB2 calcium and integrin binding family member 2
CLCN1 chloride channel, voltage-sensitive 1
CLCN7 chloride channel, voltage-sensitive 7
CLCNKA chloride channel, voltage-sensitive Ka
CLCNKB chloride channel, voltage-sensitive Kb
CLDN16 claudin 16
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
COCH cochlin
COG6 component of oligomeric golgi complex 6
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COL7A1 collagen, type VII, alpha 1
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COQ6 coenzyme Q6 monooxygenase
CORO1A coronin, actin binding protein, 1A
COX1
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX3
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
CP ceruloplasmin (ferroxidase)
CPT2 carnitine palmitoyltransferase 2
CRYAB crystallin, alpha B
CSF1R colony stimulating factor 1 receptor
CTC1 CTS telomere maintenance complex component 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTNS cystinosin, lysosomal cystine transporter
CTSD cathepsin D
CTSF cathepsin F
CUBN cubilin (intrinsic factor-cobalamin receptor)
CXCR4 chemokine (C-X-C motif) receptor 4
CYB5A cytochrome b5 type A (microsomal)
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
CYLD cylindromatosis (turban tumor syndrome)
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DARS aspartyl-tRNA synthetase
DCHS1 dachsous cadherin-related 1
DCTN1 dynactin 1
DCX doublecortin
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DDHD1 DDHD domain containing 1
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
DIAPH1 diaphanous-related formin 1
DLAT dihydrolipoamide S-acetyltransferase
DMD dystrophin
DNAAF3 dynein, axonemal, assembly factor 3
DNAAF5 dynein, axonemal, assembly factor 5
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DNAL1 dynein, axonemal, light chain 1
DNM2 dynamin 2
DOCK8 dedicator of cytokinesis 8
DOK7 docking protein 7
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
DRD2 dopamine receptor D2
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYSF dysferlin
DYX1C1 dyslexia susceptibility 1 candidate 1
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
EBP emopamil binding protein (sterol isomerase)
EEF2 eukaryotic translation elongation factor 2
EGR2 early growth response 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
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
ELANE elastase, neutrophil expressed
ELOVL4 ELOVL fatty acid elongase 4
EMD emerin
ENO3 enolase 3 (beta, muscle)
EP300 E1A binding protein p300
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC1 excision repair cross-complementation group 1
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
EXOSC3 exosome component 3
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
F13A1 coagulation factor XIII, A1 polypeptide
F13B coagulation factor XIII, B polypeptide
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
FAM126A family with sequence similarity 126, member A
FAM134B family with sequence similarity 134, member B
FAT4 FAT atypical cadherin 4
FBXO7 F-box protein 7
FECH ferrochelatase
FERMT3 fermitin family member 3
FGD4 FYVE, RhoGEF and PH domain containing 4
FGF23 fibroblast growth factor 23
FHL1 four and a half LIM domains 1
FKRP fukutin related protein
FKTN fukutin
FLNA filamin A, alpha
FLNC filamin C, gamma
FLT4 fms-related tyrosine kinase 4
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FMR1 fragile X mental retardation 1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FRMD7 FERM domain containing 7
FXN frataxin
FZD4 frizzled class receptor 4
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GALNS galactosamine (N-acetyl)-6-sulfatase
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GAN gigaxonin
GARS glycyl-tRNA synthetase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCH1 GTP cyclohydrolase 1
GCK glucokinase (hexokinase 4)
GDAP1 ganglioside induced differentiation associated protein 1
GFAP glial fibrillary acidic protein
GFI1B growth factor independent 1B transcription repressor
GFM1 G elongation factor, mitochondrial 1
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GIF gastric intrinsic factor (vitamin B synthesis)
GIPC3 GIPC PDZ domain containing family, member 3
GJB2 gap junction protein, beta 2, 26kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GLRA1 glycine receptor, alpha 1
GLRX5 glutaredoxin 5
GMPPB GDP-mannose pyrophosphorylase B
GNAS GNAS complex locus
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GP6 glycoprotein VI (platelet)
GPD1 glycerol-3-phosphate dehydrogenase 1 (soluble)
GRM1 glutamate receptor, metabotropic 1
GSC goosecoid homeobox
GSN gelsolin
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HAX1 HCLS1 associated protein X-1
HBG2 hemoglobin, gamma G
HCFC1 host cell factor C1
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4
HDAC4 histone deacetylase 4
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HEXA hexosaminidase A (alpha polypeptide)
HFE2 hemochromatosis type 2 (juvenile)
HK1 hexokinase 1
HMGA1 high mobility group AT-hook 1
HNF1A HNF1 homeobox A
HNF1B HNF1 homeobox B
HNF4A hepatocyte nuclear factor 4, alpha
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
HSPB1 heat shock 27kDa protein 1
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HYDIN HYDIN, axonemal central pair apparatus protein
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
IFT140 intraflagellar transport 140
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGHM immunoglobulin heavy constant mu
IGLL1 immunoglobulin lambda-like polypeptide 1
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
ILDR1 immunoglobulin-like domain containing receptor 1
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IRF8 interferon regulatory factor 8
ISCU iron-sulfur cluster assembly enzyme
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
ITGA6 integrin, alpha 6
ITGA7 integrin, alpha 7
ITGA8 integrin, alpha 8
ITGB4 integrin, beta 4
ITK IL2-inducible T-cell kinase
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
JAG1 jagged 1
JAM3 junctional adhesion molecule 3
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KIAA0196 KIAA0196
KIAA2022 KIAA2022
KIF1B kinesin family member 1B
KIF5C kinesin family member 5C
KITLG KIT ligand
KL klotho
KLF1 Kruppel-like factor 1 (erythroid)
KPTN kaptin (actin binding protein)
KRT14 keratin 14, type I
KRT5 keratin 5, type II
KRT81 keratin 81, type II
KRT83 keratin 83, type II
KRT86 keratin 86, type II
L2HGDH L-2-hydroxyglutarate dehydrogenase
LAMA2 laminin, alpha 2
LAMA3 laminin, alpha 3
LAMB2 laminin, beta 2 (laminin S)
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LARGE like-glycosyltransferase
LDB3 LIM domain binding 3
LDHA lactate dehydrogenase A
LITAF lipopolysaccharide-induced TNF factor
LMBRD1 LMBR1 domain containing 1
LMNA lamin A/C
LMNB1 lamin B1
LRP5 low density lipoprotein receptor-related protein 5
LRPPRC leucine-rich pentatricopeptide repeat containing
MAGEL2 melanoma antigen family L2
MAPT microtubule-associated protein tau
MATR3 matrin 3
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCOLN1 mucolipin 1
MECP2 methyl CpG binding protein 2
MED25 mediator complex subunit 25
MEFV Mediterranean fever
MEGF10 multiple EGF-like-domains 10
MFN2 mitofusin 2
MFSD8 major facilitator superfamily domain containing 8
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
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
MMP2 matrix metallopeptidase 2
MN1 meningioma (disrupted in balanced translocation) 1
MPC1 mitochondrial pyruvate carrier 1
MPDZ multiple PDZ domain protein
MPV17 MpV17 mitochondrial inner membrane protein
MPZ myelin protein zero
MRPL44 mitochondrial ribosomal protein L44
MRPS16 mitochondrial ribosomal protein S16
MRPS22 mitochondrial ribosomal protein S22
MT-CYB cytochrome b
MT-ND2 MTND2
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MTO1 mitochondrial tRNA translation optimization 1
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MUC1 mucin 1, cell surface associated
MUSK muscle, skeletal, receptor tyrosine kinase
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYH9 myosin, heavy chain 9, non-muscle
MYO5A myosin VA (heavy chain 12, myoxin)
MYO7A myosin VIIA
MYOT myotilin
NAGA N-acetylgalactosaminidase, alpha-
NAGLU N-acetylglucosaminidase, alpha
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
ND1
NDE1 nudE neurodevelopment protein 1
NDRG1 N-myc downstream regulated 1
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
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
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
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)
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)
NEB nebulin
NEFL neurofilament, light polypeptide
NEK8 NIMA-related kinase 8
NEUROG3 neurogenin 3
NF2 neurofibromin 2 (merlin)
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NGF nerve growth factor (beta polypeptide)
NKX2-1 NK2 homeobox 1
NLGN4X neuroligin 4, X-linked
NLRP3 NLR family, pyrin domain containing 3
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain)
NOTCH3 notch 3
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
NR3C2 nuclear receptor subfamily 3, group C, member 2
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OPHN1 oligophrenin 1
OSMR oncostatin M receptor
PABPN1 poly(A) binding protein, nuclear 1
PANK2 pantothenate kinase 2
PARK2 parkin RBR E3 ubiquitin protein ligase
PARK7 parkinson protein 7
PAX2 paired box 2
PAX4 paired box 4
PC pyruvate carboxylase
PCDH15 protocadherin-related 15
PCDH19 protocadherin 19
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PDE11A phosphodiesterase 11A
PDE4D phosphodiesterase 4D, cAMP-specific
PDGFB platelet-derived growth factor beta polypeptide
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHX pyruvate dehydrogenase complex, component X
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1
PEX12 peroxisomal biogenesis factor 12
PGAP2 post-GPI attachment to proteins 2
PHKG2 phosphorylase kinase, gamma 2 (testis)
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PINK1 PTEN induced putative kinase 1
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLCE1 phospholipase C, epsilon 1
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLEC plectin
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLG plasminogen
PLP1 proteolipid protein 1
PMP22 peripheral myelin protein 22
PNKD paroxysmal nonkinesigenic dyskinesia
PNPLA2 patatin-like phospholipase domain containing 2
PNPLA6 patatin-like phospholipase domain containing 6
POLE polymerase (DNA directed), epsilon, catalytic subunit
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PPT1 palmitoyl-protein thioesterase 1
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCD protein kinase C, delta
PRNP prion protein
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRX periaxin
PSAP prosaposin
PSAT1 phosphoserine aminotransferase 1
PSEN1 presenilin 1
PSEN2 presenilin 2
PTEN phosphatase and tensin homolog
PTPRQ protein tyrosine phosphatase, receptor type, Q
PTRF polymerase I and transcript release factor
PUF60 poly-U binding splicing factor 60KDa
PYGM phosphorylase, glycogen, muscle
QDPR quinoid dihydropteridine reductase
RAB27A RAB27A, member RAS oncogene family
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RANBP2 RAN binding protein 2
RAPSN receptor-associated protein of the synapse
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RDX radixin
RET ret proto-oncogene
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RNASEH2A ribonuclease H2, subunit A
RNASET2 ribonuclease T2
RNF170 ring finger protein 170
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
RPGRIP1L RPGRIP1-like
RPS19 ribosomal protein S19
RPSA ribosomal protein SA
RYR1 ryanodine receptor 1 (skeletal)
SACS sacsin molecular chaperone
SAR1B secretion associated, Ras related GTPase 1B
SARS2 seryl-tRNA synthetase 2, mitochondrial
SBF2 SET binding factor 2
SCN10A sodium channel, voltage gated, type X alpha subunit
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
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
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SCO2 SCO2 cytochrome c oxidase assembly protein
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SDHAF2 succinate dehydrogenase complex assembly factor 2
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEPN1 selenoprotein N, 1
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCE sarcoglycan, epsilon
SH3BP2 SH3-domain binding protein 2
SIL1 SIL1 nucleotide exchange factor
SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC25A38 solute carrier family 25, member 38
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member 2
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SLURP1 secreted LY6/PLAUR domain containing 1
SMN1 survival of motor neuron 1, telomeric
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SMPX small muscle protein, X-linked
SNAP29 synaptosomal-associated protein, 29kDa
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SOST sclerostin
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)
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
SPTAN1 spectrin, alpha, non-erythrocytic 1
SPTBN2 spectrin, beta, non-erythrocytic 2
SRD5A3 steroid 5 alpha-reductase 3
STAMBP STAM binding protein
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STIM1 stromal interaction molecule 1
STT3A STT3A, subunit of the oligosaccharyltransferase complex (catalytic)
STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
STXBP1 syntaxin binding protein 1
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUCLG1 succinate-CoA ligase, alpha subunit
SURF1 surfeit 1
SYNE1 spectrin repeat containing, nuclear envelope 1
SYNE2 spectrin repeat containing, nuclear envelope 2
T T, brachyury homolog (mouse)
TACSTD2 tumor-associated calcium signal transducer 2
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
TBC1D24 TBC1 domain family, member 24
TFG TRK-fused gene
TGFB1 transforming growth factor, beta 1
TGM6 transglutaminase 6
TH tyrosine hydroxylase
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TK2 thymidine kinase 2, mitochondrial
TMEM231 transmembrane protein 231
TMEM43 transmembrane protein 43
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
TMPRSS3 transmembrane protease, serine 3
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNNI3 troponin I type 3 (cardiac)
TNNT1 troponin T type 1 (skeletal, slow)
TNPO3 transportin 3
TPM3 tropomyosin 3
TPP1 tripeptidyl peptidase I
TRAC T cell receptor alpha constant
TRAPPC9 trafficking protein particle complex 9
TREX1 three prime repair exonuclease 1
TRIOBP TRIO and F-actin binding protein
TRPA1 transient receptor potential cation channel, subfamily A, member 1
TRPM6 transient receptor potential cation channel, subfamily M, member 6
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSC1 tuberous sclerosis 1
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TSHR thyroid stimulating hormone receptor
TTBK2 tau tubulin kinase 2
TTI2 TELO2 interacting protein 2
TTN titin
TTR transthyretin
TUBA8 tubulin, alpha 8
TUBB3 tubulin, beta 3 class III
TYR tyrosinase
UBQLN2 ubiquilin 2
UMOD uromodulin
UPB1 ureidopropionase, beta
UROS uroporphyrinogen III synthase
UVSSA UV-stimulated scaffold protein A
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VLDLR very low density lipoprotein receptor
VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae)
VRK1 vaccinia related kinase 1
VSX1 visual system homeobox 1
VTI1A vesicle transport through interaction with t-SNAREs 1A
WDR62 WD repeat domain 62
WDR81 WD repeat domain 81
WNK1 WNK lysine deficient protein kinase 1
WT1 Wilms tumor 1
XPC xeroderma pigmentosum, complementation group C
ZBTB24 zinc finger and BTB domain containing 24
ZC4H2 zinc finger, C4H2 domain containing
ZNF335 zinc finger protein 335
ZNF592 zinc finger protein 592