Human Genes

AAAS aladin WD repeat nucleoporin
AASS aminoadipate-semialdehyde synthase
ABAT 4-aminobutyrate aminotransferase
ABCA1 ATP binding cassette subfamily A member 1
ABCA3 ATP binding cassette subfamily A member 3
ABCA4 ATP binding cassette subfamily A member 4
ABCA12 ATP binding cassette subfamily A member 12
ABCB4 ATP binding cassette subfamily B member 4
ABCB7 ATP binding cassette subfamily B member 7
ABCB11 ATP binding cassette subfamily B member 11
ABCC2 ATP binding cassette subfamily C member 2
ABCC6 ATP binding cassette subfamily C member 6
ABCC8 ATP binding cassette subfamily C member 8
ABCC9 ATP binding cassette subfamily C member 9
ABCD1 ATP binding cassette subfamily D member 1
ABCD4 ATP binding cassette subfamily D member 4
ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group)
ABCG5 ATP binding cassette subfamily G member 5
ABCG8 ATP binding cassette subfamily G member 8
ABHD5 abhydrolase domain containing 5
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACAD8 acyl-CoA dehydrogenase family member 8
ACAD9 acyl-CoA dehydrogenase family member 9
ACADM acyl-CoA dehydrogenase medium chain
ACADS acyl-CoA dehydrogenase short chain
ACADSB acyl-CoA dehydrogenase short/branched chain
ACADVL acyl-CoA dehydrogenase very long chain
ACAN aggrecan
ACAT1 acetyl-CoA acetyltransferase 1
ACE angiotensin I converting enzyme
ACOX1 acyl-CoA oxidase 1
ACP5 acid phosphatase 5, tartrate resistant
ACSF3 acyl-CoA synthetase family member 3
ACTA1 actin, alpha 1, skeletal muscle
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTB actin beta
ACTG1 actin gamma 1
ACTG2 actin, gamma 2, smooth muscle, enteric
ACVR1 activin A receptor type 1
ACVRL1 activin A receptor like type 1
ACY1 aminoacylase 1
ADA adenosine deaminase
ADA2 adenosine deaminase 2
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13
ADAR adenosine deaminase, RNA specific
ADCY5 adenylate cyclase 5
ADGRE2 adhesion G protein-coupled receptor E2
ADGRG1 adhesion G protein-coupled receptor G1
ADNP activity dependent neuroprotector homeobox
ADSL adenylosuccinate lyase
AFF2 AF4/FMR2 family member 2
AFF4 AF4/FMR2 family member 4
AGA aspartylglucosaminidase
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGPS alkylglycerone phosphate synthase
AGT angiotensinogen
AGTR1 angiotensin II receptor type 1
AGXT alanine–glyoxylate and serine–pyruvate aminotransferase
AHCY adenosylhomocysteinase
AHDC1 AT-hook DNA binding motif containing 1
AIP aryl hydrocarbon receptor interacting protein
AIRE autoimmune regulator
AKR1D1 aldo-keto reductase family 1 member D1
AKT1 AKT serine/threonine kinase 1
AKT3 AKT serine/threonine kinase 3
ALAD aminolevulinate dehydratase
ALAS2 5′-aminolevulinate synthase 2
ALDH3A2 aldehyde dehydrogenase 3 family member A2
ALDH4A1 aldehyde dehydrogenase 4 family member A1
ALDH5A1 aldehyde dehydrogenase 5 family member A1
ALDH7A1 aldehyde dehydrogenase 7 family member A1
ALDOB aldolase, fructose-bisphosphate B
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG6 ALG6, alpha-1,3-glucosyltransferase
ALG12 ALG12, alpha-1,6-mannosyltransferase
ALK ALK receptor tyrosine kinase
ALMS1 ALMS1, centrosome and basal body associated protein
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
ALPL alkaline phosphatase, biomineralization associated
ALS2 ALS2, alsin Rho guanine nucleotide exchange factor
ALX1 ALX homeobox 1
ALX3 ALX homeobox 3
ALX4 ALX homeobox 4
AMACR alpha-methylacyl-CoA racemase
AMELX amelogenin X-linked
AMER1 APC membrane recruitment protein 1
AMH anti-Mullerian hormone
AMHR2 anti-Mullerian hormone receptor type 2
AMN amnion associated transmembrane protein
AMPD1 adenosine monophosphate deaminase 1
AMT aminomethyltransferase
ANK1 ankyrin 1
ANK2 ankyrin 2
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
ANO5 anoctamin 5
ANOS1 anosmin 1
ANTXR2 ANTXR cell adhesion molecule 2
APC APC, WNT signaling pathway regulator
APOA1 apolipoprotein A1
APOB apolipoprotein B
APOE apolipoprotein E
APP amyloid beta precursor protein
APRT adenine phosphoribosyltransferase
APTX aprataxin
AQP2 aquaporin 2
AR androgen receptor
ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2
ARG1 arginase 1
ARHGAP31 Rho GTPase activating protein 31
ARID1A AT-rich interaction domain 1A
ARID1B AT-rich interaction domain 1B
ARMC5 armadillo repeat containing 5
ARMS2 age-related maculopathy susceptibility 2
ARSA arylsulfatase A
ARSB arylsulfatase B
ARSL arylsulfatase E
ARX aristaless related homeobox
ASAH1 N-acylsphingosine amidohydrolase 1
ASH1L ASH1 like histone lysine methyltransferase
ASL argininosuccinate lyase
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASPA aspartoacylase
ASPM abnormal spindle microtubule assembly
ASS1 argininosuccinate synthase 1
ASXL1 ASXL transcriptional regulator 1
ATG16L1 autophagy related 16 like 1
ATL1 atlastin GTPase 1
ATM ATM serine/threonine kinase
ATN1 atrophin 1
ATP1A1 ATPase Na+/K+ transporting subunit alpha 1
ATP1A2 ATPase Na+/K+ transporting subunit alpha 2
ATP1A3 ATPase Na+/K+ transporting subunit alpha 3
ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
ATP2C1 ATPase secretory pathway Ca2+ transporting 1
ATP6V0A2 ATPase H+ transporting V0 subunit a2
ATP6V0A4 ATPase H+ transporting V0 subunit a4
ATP6V1B1 ATPase H+ transporting V1 subunit B1
ATP7A ATPase copper transporting alpha
ATP7B ATPase copper transporting beta
ATP8B1 ATPase phospholipid transporting 8B1
ATRX ATRX, chromatin remodeler
ATXN1 ataxin 1
ATXN2 ataxin 2
ATXN3 ataxin 3
AUH AU RNA binding methylglutaconyl-CoA hydratase
AURKC aurora kinase C
AVP arginine vasopressin
AVPR2 arginine vasopressin receptor 2
B3GLCT beta 3-glucosyltransferase
BAP1 BRCA1 associated protein 1
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BCHE butyrylcholinesterase
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide
BCKDHB branched chain keto acid dehydrogenase E1 subunit beta
BCOR BCL6 corepressor
BCR BCR, RhoGEF and GTPase activating protein
BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
BDNF brain derived neurotrophic factor
BEST1 bestrophin 1
BICD2 BICD cargo adaptor 2
BIN1 bridging integrator 1
BLM BLM RecQ like helicase
BMPR1A bone morphogenetic protein receptor type 1A
BMPR2 bone morphogenetic protein receptor type 2
BOLA3 bolA family member 3
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 BRCA1, DNA repair associated
BRCA2 BRCA2, DNA repair associated
BSCL2 BSCL2, seipin lipid droplet biogenesis associated
BSND barttin CLCNK type accessory beta subunit
BTD biotinidase
BTK Bruton tyrosine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C2 complement C2
C3 complement C3
C8A complement C8 alpha chain
C8B complement C8 beta chain
C9orf72 chromosome 9 open reading frame 72
C19orf12 chromosome 19 open reading frame 12
CA5A carbonic anhydrase 5A
CA12 carbonic anhydrase 12
CACNA1A calcium voltage-gated channel subunit alpha1 A
CACNA1C calcium voltage-gated channel subunit alpha1 C
CACNA1D calcium voltage-gated channel subunit alpha1 D
CACNA1F calcium voltage-gated channel subunit alpha1 F
CACNA1S calcium voltage-gated channel subunit alpha1 S
CACNB4 calcium voltage-gated channel auxiliary subunit beta 4
CALR calreticulin
CAPN3 calpain 3
CARD9 caspase recruitment domain family member 9
CARD11 caspase recruitment domain family member 11
CARD14 caspase recruitment domain family member 14
CASK calcium/calmodulin dependent serine protein kinase
CASQ2 calsequestrin 2
CASR calcium sensing receptor
CAT catalase
CATSPER1 cation channel sperm associated 1
CATSPER2 cation channel sperm associated 2
CAV1 caveolin 1
CAV3 caveolin 3
CAVIN1 caveolae associated protein 1
CBFB core-binding factor subunit beta
CBS cystathionine-beta-synthase
CCBE1 collagen and calcium binding EGF domains 1
CCM2 CCM2 scaffold protein
CCN6 cellular communication network factor 6
CCND2 cyclin D2
CD40LG CD40 ligand
CDAN1 codanin 1
CDC6 cell division cycle 6
CDC73 cell division cycle 73
CDH1 cadherin 1
CDH23 cadherin related 23
CDKL5 cyclin dependent kinase like 5
CDKN1B cyclin dependent kinase inhibitor 1B
CDKN1C cyclin dependent kinase inhibitor 1C
CDKN2A cyclin dependent kinase inhibitor 2A
CDT1 chromatin licensing and DNA replication factor 1
CEBPA CCAAT enhancer binding protein alpha
CEP57 centrosomal protein 57
CEP290 centrosomal protein 290
CFH complement factor H
CFHR5 complement factor H related 5
CFI complement factor I
CFTR cystic fibrosis transmembrane conductance regulator
CHAT choline O-acetyltransferase
CHD2 chromodomain helicase DNA binding protein 2
CHD7 chromodomain helicase DNA binding protein 7
CHD8 chromodomain helicase DNA binding protein 8
CHM CHM, Rab escort protein 1
CHMP2B charged multivesicular body protein 2B
CHN1 chimerin 1
CHRNA2 cholinergic receptor nicotinic alpha 2 subunit
CHRNA4 cholinergic receptor nicotinic alpha 4 subunit
CHRNB2 cholinergic receptor nicotinic beta 2 subunit
CHRNE cholinergic receptor nicotinic epsilon subunit
CHRNG cholinergic receptor nicotinic gamma subunit
CHST3 carbohydrate sulfotransferase 3
CIITA class II major histocompatibility complex transactivator
CISD2 CDGSH iron sulfur domain 2
CLCF1 cardiotrophin like cytokine factor 1
CLCN1 chloride voltage-gated channel 1
CLCN2 chloride voltage-gated channel 2
CLCN5 chloride voltage-gated channel 5
CLCN7 chloride voltage-gated channel 7
CLCNKA chloride voltage-gated channel Ka
CLCNKB chloride voltage-gated channel Kb
CLIP2 CAP-Gly domain containing linker protein 2
CLN3 CLN3, battenin
CLN5 CLN5, intracellular trafficking protein
CLN6 CLN6, transmembrane ER protein
CLN8 CLN8, transmembrane ER and ERGIC protein
CLPB ClpB homolog, mitochondrial AAA ATPase chaperonin
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
CLRN1 clarin 1
CNBP CCHC-type zinc finger nucleic acid binding protein
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB3 cyclic nucleotide gated channel beta 3
COG5 component of oligomeric golgi complex 5
COL1A1 collagen type I alpha 1 chain
COL1A2 collagen type I alpha 2 chain
COL2A1 collagen type II alpha 1 chain
COL3A1 collagen type III alpha 1 chain
COL4A1 collagen type IV alpha 1 chain
COL4A3 collagen type IV alpha 3 chain
COL4A4 collagen type IV alpha 4 chain
COL4A5 collagen type IV alpha 5 chain
COL5A1 collagen type V alpha 1 chain
COL5A2 collagen type V alpha 2 chain
COL6A1 collagen type VI alpha 1 chain
COL6A2 collagen type VI alpha 2 chain
COL6A3 collagen type VI alpha 3 chain
COL7A1 collagen type VII alpha 1 chain
COL8A2 collagen type VIII alpha 2 chain
COL9A1 collagen type IX alpha 1 chain
COL9A2 collagen type IX alpha 2 chain
COL9A3 collagen type IX alpha 3 chain
COL11A1 collagen type XI alpha 1 chain
COL11A2 collagen type XI alpha 2 chain
COL17A1 collagen type XVII alpha 1 chain
COL18A1 collagen type XVIII alpha 1 chain
COLEC10 collectin subfamily member 10
COLEC11 collectin subfamily member 11
COLQ collagen like tail subunit of asymmetric acetylcholinesterase
COMP cartilage oligomeric matrix protein
COMT catechol-O-methyltransferase
COQ2 coenzyme Q2, polyprenyltransferase
COQ4 coenzyme Q4
COQ6 coenzyme Q6, monooxygenase
COQ8A coenzyme Q8A
COQ8B coenzyme Q8B
CP ceruloplasmin
CPOX coproporphyrinogen oxidase
CPS1 carbamoyl-phosphate synthase 1
CPT1A carnitine palmitoyltransferase 1A
CPT2 carnitine palmitoyltransferase 2
CRB1 crumbs 1, cell polarity complex component
CREBBP CREB binding protein
CRLF1 cytokine receptor like factor 1
CRPPA CDP-L-ribitol pyrophosphorylase A
CRX cone-rod homeobox
CSF1R colony stimulating factor 1 receptor
CST3 cystatin C
CSTB cystatin B
CTC1 CST telomere replication complex component 1
CTDP1 CTD phosphatase subunit 1
CTNNB1 catenin beta 1
CTNND1 catenin delta 1
CTNND2 catenin delta 2
CTNS cystinosin, lysosomal cystine transporter
CTSA cathepsin A
CTSD cathepsin D
CUBN cubilin
CUL3 cullin 3
CUL7 cullin 7
CXCR4 C-X-C motif chemokine receptor 4
CYB5R3 cytochrome b5 reductase 3
CYBA cytochrome b-245 alpha chain
CYBB cytochrome b-245 beta chain
CYLD CYLD lysine 63 deubiquitinase
CYP1B1 cytochrome P450 family 1 subfamily B member 1
CYP2C9 cytochrome P450 family 2 subfamily C member 9
CYP2C19 cytochrome P450 family 2 subfamily C member 19
CYP2R1 cytochrome P450 family 2 subfamily R member 1
CYP4V2 cytochrome P450 family 4 subfamily V member 2
CYP7B1 cytochrome P450 family 7 subfamily B member 1
CYP11B1 cytochrome P450 family 11 subfamily B member 1
CYP11B2 cytochrome P450 family 11 subfamily B member 2
CYP17A1 cytochrome P450 family 17 subfamily A member 1
CYP19A1 cytochrome P450 family 19 subfamily A member 1
CYP21A2 cytochrome P450 family 21 subfamily A member 2
CYP24A1 cytochrome P450 family 24 subfamily A member 1
CYP27A1 cytochrome P450 family 27 subfamily A member 1
CYP27B1 cytochrome P450 family 27 subfamily B member 1
D2HGDH D-2-hydroxyglutarate dehydrogenase
DARS1 aspartyl-tRNA synthetase
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DBH dopamine beta-hydroxylase
DBT dihydrolipoamide branched chain transacylase E2
DCAF17 DDB1 and CUL4 associated factor 17
DCC DCC netrin 1 receptor
DCN decorin
DCTN1 dynactin subunit 1
DCX doublecortin
DCXR dicarbonyl and L-xylulose reductase
DDC dopa decarboxylase
DDX11 DEAD/H-box helicase 11
DEPDC5 DEP domain containing 5
DES desmin
DGUOK deoxyguanosine kinase
DHCR7 7-dehydrocholesterol reductase
DHCR24 24-dehydrocholesterol reductase
DHH desert hedgehog
DHODH dihydroorotate dehydrogenase (quinone)
DICER1 dicer 1, ribonuclease III
DKC1 dyskerin pseudouridine synthase 1
DLAT dihydrolipoamide S-acetyltransferase
DLD dihydrolipoamide dehydrogenase
DLL3 delta like canonical Notch ligand 3
DLL4 delta like canonical Notch ligand 4
DMD dystrophin
DMPK DM1 protein kinase
DNAH5 dynein axonemal heavy chain 5
DNAI1 dynein axonemal intermediate chain 1
DNAJC5 DnaJ heat shock protein family (Hsp40) member C5
DNAJC19 DnaJ heat shock protein family (Hsp40) member C19
DNM2 dynamin 2
DNMT1 DNA methyltransferase 1
DNMT3A DNA methyltransferase 3 alpha
DOCK6 dedicator of cytokinesis 6
DOCK8 dedicator of cytokinesis 8
DOK7 docking protein 7
DOLK dolichol kinase
DPY19L2 dpy-19 like 2
DPYD dihydropyrimidine dehydrogenase
DPYS dihydropyrimidinase
DRD5 dopamine receptor D5
DSC2 desmocollin 2
DSG4 desmoglein 4
DSP desmoplakin
DSPP dentin sialophosphoprotein
DUOX2 dual oxidase 2
DUX4 double homeobox 4
DVL1 dishevelled segment polarity protein 1
DVL3 dishevelled segment polarity protein 3
DYNC1H1 dynein cytoplasmic 1 heavy chain 1
DYNC2H1 dynein cytoplasmic 2 heavy chain 1
DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A
DYSF dysferlin
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
EBP EBP, cholestenol delta-isomerase
ECM1 extracellular matrix protein 1
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EDARADD EDAR associated death domain
EDN3 endothelin 3
EDNRB endothelin receptor type B
EFEMP2 EGF containing fibulin extracellular matrix protein 2
EFHC1 EF-hand domain containing 1
EFNB1 ephrin B1
EFTUD2 elongation factor Tu GTP binding domain containing 2
EGFR epidermal growth factor receptor
EGLN1 egl-9 family hypoxia inducible factor 1
EHMT1 euchromatic histone lysine methyltransferase 1
EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4
EIF2B1 eukaryotic translation initiation factor 2B subunit alpha
EIF2B2 eukaryotic translation initiation factor 2B subunit beta
EIF2B3 eukaryotic translation initiation factor 2B subunit gamma
EIF2B4 eukaryotic translation initiation factor 2B subunit delta
EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon
ELANE elastase, neutrophil expressed
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
ELP1 elongator complex protein 1
EMD emerin
EMG1 EMG1, N1-specific pseudouridine methyltransferase
ENAM enamelin
ENG endoglin
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EOGT EGF domain specific O-linked N-acetylglucosamine transferase
EP300 E1A binding protein p300
EPAS1 endothelial PAS domain protein 1
EPCAM epithelial cell adhesion molecule
EPG5 ectopic P-granules autophagy protein 5 homolog
EPM2A EPM2A, laforin glucan phosphatase
EPOR erythropoietin receptor
EPX eosinophil peroxidase
ERAP1 endoplasmic reticulum aminopeptidase 1
ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit
ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit
ERCC6 ERCC excision repair 6, chromatin remodeling factor
ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
ETFA electron transfer flavoprotein subunit alpha
ETFB electron transfer flavoprotein subunit beta
ETFDH electron transfer flavoprotein dehydrogenase
ETHE1 ETHE1, persulfide dioxygenase
ETV6 ETS variant 6
EVC EvC ciliary complex subunit 1
EVC2 EvC ciliary complex subunit 2
EWSR1 EWS RNA binding protein 1
EXOSC3 exosome component 3
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EYA1 EYA transcriptional coactivator and phosphatase 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
F2 coagulation factor II, thrombin
F5 coagulation factor V
F7 coagulation factor VII
F8 coagulation factor VIII
F9 coagulation factor IX
F10 coagulation factor X
F11 coagulation factor XI
F12 coagulation factor XII
F13A1 coagulation factor XIII A chain
F13B coagulation factor XIII B chain
FA2H fatty acid 2-hydroxylase
FAH fumarylacetoacetate hydrolase
FAM83H family with sequence similarity 83 member H
FAM111B family with sequence similarity 111 member B
FAM126A family with sequence similarity 126 member A
FANCA FA complementation group A
FANCC FA complementation group C
FANCG FA complementation group G
FAS Fas cell surface death receptor
FAT4 FAT atypical cadherin 4
FBLN5 fibulin 5
FBN1 fibrillin 1
FBN2 fibrillin 2
FBXL4 F-box and leucine rich repeat protein 4
FECH ferrochelatase
FERMT1 fermitin family member 1
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF3 fibroblast growth factor 3
FGF8 fibroblast growth factor 8
FGF10 fibroblast growth factor 10
FGF23 fibroblast growth factor 23
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGFR4 fibroblast growth factor receptor 4
FGG fibrinogen gamma chain
FH fumarate hydratase
FHL1 four and a half LIM domains 1
FIP1L1 FIP1 like 1 (S. cerevisiae)
FKBP10 FKBP prolyl isomerase 10
FKBP14 FKBP prolyl isomerase 14
FKRP fukutin related protein
FKTN fukutin
FLCN folliculin
FLG filaggrin
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLNA filamin A
FLNB filamin B
FLT3 fms related tyrosine kinase 3
FLT4 fms related tyrosine kinase 4
FMO3 flavin containing monooxygenase 3
FMR1 fragile X mental retardation 1
FN1 fibronectin 1
FOLR1 folate receptor 1
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXF1 forkhead box F1
FOXG1 forkhead box G1
FOXL2 forkhead box L2
FOXN1 forkhead box N1
FOXP2 forkhead box P2
FOXP3 forkhead box P3
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
FRMD7 FERM domain containing 7
FTCD formimidoyltransferase cyclodeaminase
FTL ferritin light chain
FUCA1 alpha-L-fucosidase 1
FUS FUS RNA binding protein
FXN frataxin
FZD2 frizzled class receptor 2
FZD4 frizzled class receptor 4
FZD6 frizzled class receptor 6
G6PC glucose-6-phosphatase catalytic subunit
G6PD glucose-6-phosphate dehydrogenase
GAA glucosidase alpha, acid
GABRA1 gamma-aminobutyric acid type A receptor alpha1 subunit
GALC galactosylceramidase
GALE UDP-galactose-4-epimerase
GALK1 galactokinase 1
GALNS galactosamine (N-acetyl)-6-sulfatase
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GALT galactose-1-phosphate uridylyltransferase
GAMT guanidinoacetate N-methyltransferase
GAN gigaxonin
GARS1 glycyl-tRNA synthetase
GATA1 GATA binding protein 1
GATM glycine amidinotransferase
GBA glucosylceramidase beta
GBE1 1,4-alpha-glucan branching enzyme 1
GCDH glutaryl-CoA dehydrogenase
GCH1 GTP cyclohydrolase 1
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GFAP glial fibrillary acidic protein
GFM1 G elongation factor mitochondrial 1
GH1 growth hormone 1
GHR growth hormone receptor
GHRHR growth hormone releasing hormone receptor
GJA1 gap junction protein alpha 1
GJB1 gap junction protein beta 1
GJB2 gap junction protein beta 2
GJB3 gap junction protein beta 3
GJB4 gap junction protein beta 4
GJB6 gap junction protein beta 6
GJC2 gap junction protein gamma 2
GLA galactosidase alpha
GLB1 galactosidase beta 1
GLDC glycine decarboxylase
GLI3 GLI family zinc finger 3
GLRA1 glycine receptor alpha 1
GM2A GM2 ganglioside activator
GNA11 G protein subunit alpha 11
GNAI3 G protein subunit alpha i3
GNAQ G protein subunit alpha q
GNAS GNAS complex locus
GNAT1 G protein subunit alpha transducin 1
GNAT2 G protein subunit alpha transducin 2
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNMT glycine N-methyltransferase
GNPAT glyceronephosphate O-acyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma
GNS glucosamine (N-acetyl)-6-sulfatase
GP1BA glycoprotein Ib platelet subunit alpha
GP1BB glycoprotein Ib platelet subunit beta
GP6 glycoprotein VI platelet
GP9 glycoprotein IX platelet
GPC3 glypican 3
GPHN gephyrin
GPI glucose-6-phosphate isomerase
GPR101 G protein-coupled receptor 101
GPR143 G protein-coupled receptor 143
GRHPR glyoxylate and hydroxypyruvate reductase
GRIN2A glutamate ionotropic receptor NMDA type subunit 2A
GRIN2B glutamate ionotropic receptor NMDA type subunit 2B
GRIP1 glutamate receptor interacting protein 1
GRM6 glutamate metabotropic receptor 6
GRN granulin precursor
GSN gelsolin
GSS glutathione synthetase
GTF2H5 general transcription factor IIH subunit 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCY2D guanylate cyclase 2D, retinal
GUSB glucuronidase beta
GYS1 glycogen synthase 1
GYS2 glycogen synthase 2
H19 H19, imprinted maternally expressed transcript
HADH hydroxyacyl-CoA dehydrogenase
HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
HAL histidine ammonia-lyase
HAMP hepcidin antimicrobial peptide
HARS2 histidyl-tRNA synthetase 2, mitochondrial
HAX1 HCLS1 associated protein X-1
HBA1 hemoglobin subunit alpha 1
HBA2 hemoglobin subunit alpha 2
HBB hemoglobin subunit beta
HCCS holocytochrome c synthase
HCFC1 host cell factor C1
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HEPACAM hepatic and glial cell adhesion molecule
HESX1 HESX homeobox 1
HEXA hexosaminidase subunit alpha
HEXB hexosaminidase subunit beta
HFE homeostatic iron regulator
HGD homogentisate 1,2-dioxygenase
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HINT1 histidine triad nucleotide binding protein 1
HIVEP2 human immunodeficiency virus type I enhancer binding protein 2
HJV hemojuvelin BMP co-receptor
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLCS holocarboxylase synthetase
HMBS hydroxymethylbilane synthase
HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase
HNF1B HNF1 homeobox B
HNRNPK heterogeneous nuclear ribonucleoprotein K
HOGA1 4-hydroxy-2-oxoglutarate aldolase 1
HOXA13 homeobox A13
HOXB13 homeobox B13
HPD 4-hydroxyphenylpyruvate dioxygenase
HPRT1 hypoxanthine phosphoribosyltransferase 1
HPS1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
HPS3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
HPSE2 heparanase 2 (inactive)
HRAS HRas proto-oncogene, GTPase
HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
HSD17B3 hydroxysteroid 17-beta dehydrogenase 3
HSD17B4 hydroxysteroid 17-beta dehydrogenase 4
HSD17B10 hydroxysteroid 17-beta dehydrogenase 10
HSPB1 heat shock protein family B (small) member 1
HSPB8 heat shock protein family B (small) member 8
HSPG2 heparan sulfate proteoglycan 2
HTRA1 HtrA serine peptidase 1
HTT huntingtin
IDH1 isocitrate dehydrogenase (NADP(+)) 1, cytosolic
IDH2 isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFIH1 interferon induced with helicase C domain 1
IFT43 intraflagellar transport 43
IFT80 intraflagellar transport 80
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IGF2 insulin like growth factor 2
IGFBP7 insulin like growth factor binding protein 7
IGHMBP2 immunoglobulin mu DNA binding protein 2
IKBKG inhibitor of nuclear factor kappa B kinase subunit gamma
IL1A interleukin 1 alpha
IL2RG interleukin 2 receptor subunit gamma
IL7R interleukin 7 receptor
IL17RC interleukin 17 receptor C
IL23R interleukin 23 receptor
IL31RA interleukin 31 receptor A
IL36RN interleukin 36 receptor antagonist
INS insulin
INSR insulin receptor
IRAK4 interleukin 1 receptor associated kinase 4
IRF5 interferon regulatory factor 5
IRF6 interferon regulatory factor 6
IRGM immunity related GTPase M
ISCU iron-sulfur cluster assembly enzyme
ITGA2B integrin subunit alpha 2b
ITGA6 integrin subunit alpha 6
ITGB2 integrin subunit beta 2
ITGB3 integrin subunit beta 3
ITGB4 integrin subunit beta 4
ITM2B integral membrane protein 2B
ITPKC inositol-trisphosphate 3-kinase C
ITPR1 inositol 1,4,5-trisphosphate receptor type 1
IVD isovaleryl-CoA dehydrogenase
JAG1 jagged 1
JAK2 Janus kinase 2
JAK3 Janus kinase 3
JPH3 junctophilin 3
JUP junction plakoglobin
KANK2 KN motif and ankyrin repeat domains 2
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B lysine acetyltransferase 6B
KCNA1 potassium voltage-gated channel subfamily A member 1
KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1
KCNH2 potassium voltage-gated channel subfamily H member 2
KCNJ1 potassium voltage-gated channel subfamily J member 1
KCNJ2 potassium voltage-gated channel subfamily J member 2
KCNJ5 potassium voltage-gated channel subfamily J member 5
KCNJ11 potassium voltage-gated channel subfamily J member 11
KCNK9 potassium two pore domain channel subfamily K member 9
KCNQ1 potassium voltage-gated channel subfamily Q member 1
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1
KCNQ2 potassium voltage-gated channel subfamily Q member 2
KCNQ3 potassium voltage-gated channel subfamily Q member 3
KCNQ4 potassium voltage-gated channel subfamily Q member 4
KCNT1 potassium sodium-activated channel subfamily T member 1
KCTD1 potassium channel tetramerization domain containing 1
KDM6A lysine demethylase 6A
KHDC3L KH domain containing 3 like, subcortical maternal complex member
KIF1B kinesin family member 1B
KIF7 kinesin family member 7
KIF21A kinesin family member 21A
KIT KIT proto-oncogene receptor tyrosine kinase
KL klotho
KLHL3 kelch like family member 3
KLKB1 kallikrein B1
KLLN killin, p53 regulated DNA replication inhibitor
KMT2D lysine methyltransferase 2D
KRAS KRAS proto-oncogene, GTPase
KRIT1 KRIT1, ankyrin repeat containing
KRT1 keratin 1
KRT3 keratin 3
KRT4 keratin 4
KRT5 keratin 5
KRT6A keratin 6A
KRT6B keratin 6B
KRT6C keratin 6C
KRT10 keratin 10
KRT12 keratin 12
KRT13 keratin 13
KRT14 keratin 14
KRT16 keratin 16
KRT17 keratin 17
KRT81 keratin 81
KRT83 keratin 83
KRT86 keratin 86
L1CAM L1 cell adhesion molecule
L2HGDH L-2-hydroxyglutarate dehydrogenase
LAMA2 laminin subunit alpha 2
LAMA3 laminin subunit alpha 3
LAMB3 laminin subunit beta 3
LAMC2 laminin subunit gamma 2
LAMP2 lysosomal associated membrane protein 2
LARGE1 LARGE xylosyl- and glucuronyltransferase 1
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LBR lamin B receptor
LCAT lecithin-cholesterol acyltransferase
LCT lactase
LDB3 LIM domain binding 3
LDHA lactate dehydrogenase A
LDHB lactate dehydrogenase B
LDLR low density lipoprotein receptor
LDLRAP1 low density lipoprotein receptor adaptor protein 1
LEMD3 LEM domain containing 3
LEP leptin
LEPR leptin receptor
LETM1 leucine zipper and EF-hand containing transmembrane protein 1
LGI1 leucine rich glioma inactivated 1
LHCGR luteinizing hormone/choriogonadotropin receptor
LHX1 LIM homeobox 1
LIFR LIF receptor alpha
LIMK1 LIM domain kinase 1
LIPA lipase A, lysosomal acid type
LIPC lipase C, hepatic type
LIPH lipase H
LMBRD1 LMBR1 domain containing 1
LMNA lamin A/C
LMNB1 lamin B1
LMX1B LIM homeobox transcription factor 1 beta
LORICRIN loricrin
LPAR6 lysophosphatidic acid receptor 6
LPIN2 lipin 2
LPL lipoprotein lipase
LRP2 LDL receptor related protein 2
LRP5 LDL receptor related protein 5
LRRK2 leucine rich repeat kinase 2
LYST lysosomal trafficking regulator
LZTR1 leucine zipper like transcription regulator 1
MAGT1 magnesium transporter 1
MAN2B1 mannosidase alpha class 2B member 1
MANBA mannosidase beta
MAOA monoamine oxidase A
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAP3K1 mitogen-activated protein kinase kinase kinase 1
MAPT microtubule associated protein tau
MASP1 mannan binding lectin serine peptidase 1
MAT1A methionine adenosyltransferase 1A
MATN3 matrilin 3
MATR3 matrin 3
MBD5 methyl-CpG binding domain protein 5
MBL2 mannose binding lectin 2
MC1R melanocortin 1 receptor
MC2R melanocortin 2 receptor
MCCC1 methylcrotonoyl-CoA carboxylase 1
MCCC2 methylcrotonoyl-CoA carboxylase 2
MCEE methylmalonyl-CoA epimerase
MCM6 minichromosome maintenance complex component 6
MCOLN1 mucolipin 1
MECP2 methyl-CpG binding protein 2
MED12 mediator complex subunit 12
MED13L mediator complex subunit 13 like
MEFV MEFV, pyrin innate immunity regulator
MEGF8 multiple EGF like domains 8
MEN1 menin 1
MEOX1 mesenchyme homeobox 1
MESP2 mesoderm posterior bHLH transcription factor 2
MFN2 mitofusin 2
MFSD8 major facilitator superfamily domain containing 8
MID1 midline 1
MIR17HG miR-17-92a-1 cluster host gene
MIR145 microRNA 145
MIR146A microRNA 146a
MITF melanocyte inducing transcription factor
MKKS McKusick-Kaufman syndrome
MKRN3 makorin ring finger protein 3
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
MLH1 mutL homolog 1
MLPH melanophilin
MLYCD malonyl-CoA decarboxylase
MMAA metabolism of cobalamin associated A
MMAB metabolism of cobalamin associated B
MMACHC metabolism of cobalamin associated C
MMADHC metabolism of cobalamin associated D
MMP2 matrix metallopeptidase 2
MMP14 matrix metallopeptidase 14
MMP20 matrix metallopeptidase 20
MMUT methylmalonyl-CoA mutase
MOCOS molybdenum cofactor sulfurase
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MPL MPL proto-oncogene, thrombopoietin receptor
MPLKIP M-phase specific PLK1 interacting protein
MPV17 mitochondrial inner membrane protein MPV17
MPZ myelin protein zero
MRAP melanocortin 2 receptor accessory protein
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MSTN myostatin
MSX1 msh homeobox 1
MSX2 msh homeobox 2
MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6
MT-CYB mitochondrially encoded cytochrome b
MT-ND1 mitochondrially encoded NADH
MT-ND4 mitochondrially encoded NADH
MT-ND4L mitochondrially encoded NADH
MT-ND5 mitochondrially encoded NADH
MT-ND6 mitochondrially encoded NADH
MT-TE mitochondrially encoded tRNA glutamic acid
MT-TH mitochondrially encoded tRNA histidine
MT-TK mitochondrially encoded tRNA lysine
MT-TL1 mitochondrially encoded tRNA leucine 1 (UUA/G)
MT-TS1 mitochondrially encoded tRNA serine 1 (UCN)
MT-TV mitochondrially encoded tRNA valine
MTHFR methylenetetrahydrofolate reductase
MTM1 myotubularin 1
MTOR mechanistic target of rapamycin kinase
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MTTP microsomal triglyceride transfer protein
MUC1 mucin 1, cell surface associated
MUTYH mutY DNA glycosylase
MVK mevalonate kinase
MYBPC1 myosin binding protein C, slow type
MYBPC3 myosin binding protein C, cardiac
MYCN MYCN proto-oncogene, bHLH transcription factor
MYD88 MYD88, innate immune signal transduction adaptor
MYH3 myosin heavy chain 3
MYH6 myosin heavy chain 6
MYH7 myosin heavy chain 7
MYH9 myosin heavy chain 9
MYH11 myosin heavy chain 11
MYO5A myosin VA
MYO5B myosin VB
MYO7A myosin VIIA
MYOC myocilin
MYOT myotilin
NAGA alpha-N-acetylgalactosaminidase
NAGLU N-acetyl-alpha-glucosaminidase
NAGS N-acetylglutamate synthase
NBEAL2 neurobeachin like 2
NBN nibrin
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4
NCSTN nicastrin
NDP NDP, norrin cystine knot growth factor
NEB nebulin
NEU1 neuraminidase 1
NF1 neurofibromin 1
NF2 neurofibromin 2
NFKBIA NFKB inhibitor alpha
NFU1 NFU1 iron-sulfur cluster scaffold
NGF nerve growth factor
NGLY1 N-glycanase 1
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NIPBL NIPBL, cohesin loading factor
NKX2-1 NK2 homeobox 1
NLRP1 NLR family pyrin domain containing 1
NLRP3 NLR family pyrin domain containing 3
NLRP7 NLR family pyrin domain containing 7
NLRP12 NLR family pyrin domain containing 12
NNT nicotinamide nucleotide transhydrogenase
NOD2 nucleotide binding oligomerization domain containing 2
NOG noggin
NOP56 NOP56 ribonucleoprotein
NOTCH1 notch 1
NOTCH2 notch 2
NOTCH3 notch 3
NPC1 NPC intracellular cholesterol transporter 1
NPC2 NPC intracellular cholesterol transporter 2
NPHP1 nephrocystin 1
NPHS1 NPHS1, nephrin
NPHS2 NPHS2, podocin
NPM1 nucleophosmin 1
NPRL2 NPR2 like, GATOR1 complex subunit
NPRL3 NPR3 like, GATOR1 complex subunit
NR0B1 nuclear receptor subfamily 0 group B member 1
NR3C2 nuclear receptor subfamily 3 group C member 2
NR5A1 nuclear receptor subfamily 5 group A member 1
NRAS NRAS proto-oncogene, GTPase
NSD1 nuclear receptor binding SET domain protein 1
NSD2 nuclear receptor binding SET domain protein 2
NSDHL NAD(P) dependent steroid dehydrogenase-like
NTRK1 neurotrophic receptor tyrosine kinase 1
NYX nyctalopin
OAT ornithine aminotransferase
OBSL1 obscurin like 1
OCA2 OCA2 melanosomal transmembrane protein
OCRL OCRL, inositol polyphosphate-5-phosphatase
OFD1 OFD1, centriole and centriolar satellite protein
OPA1 OPA1, mitochondrial dynamin like GTPase
OPA3 OPA3, outer mitochondrial membrane lipid metabolism regulator
OPN1LW opsin 1, long wave sensitive
OPN1MW opsin 1, medium wave sensitive
OPN1SW opsin 1, short wave sensitive
OPRM1 opioid receptor mu 1
ORC1 origin recognition complex subunit 1
ORC4 origin recognition complex subunit 4
ORC6 origin recognition complex subunit 6
OSMR oncostatin M receptor
OTC ornithine carbamoyltransferase
OTULIN OTU deubiquitinase with linear linkage specificity
OTX2 orthodenticle homeobox 2
OXCT1 3-oxoacid CoA-transferase 1
PABPN1 poly(A) binding protein nuclear 1
PACS1 phosphofurin acidic cluster sorting protein 1
PADI3 peptidyl arginine deiminase 3
PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1
PAH phenylalanine hydroxylase
PANK2 pantothenate kinase 2
PARK7 Parkinsonism associated deglycase
PAX2 paired box 2
PAX3 paired box 3
PAX6 paired box 6
PAX8 paired box 8
PC pyruvate carboxylase
PCBD1 pterin-4 alpha-carbinolamine dehydratase 1
PCCA propionyl-CoA carboxylase subunit alpha
PCCB propionyl-CoA carboxylase subunit beta
PCNT pericentrin
PCSK9 proprotein convertase subtilisin/kexin type 9
PDCD10 programmed cell death 10
PDE6B phosphodiesterase 6B
PDE6C phosphodiesterase 6C
PDE6H phosphodiesterase 6H
PDGFB platelet derived growth factor subunit B
PDGFRA platelet derived growth factor receptor alpha
PDGFRB platelet derived growth factor receptor beta
PDHA1 pyruvate dehydrogenase E1 alpha 1 subunit
PDHB pyruvate dehydrogenase E1 beta subunit
PDHX pyruvate dehydrogenase complex component X
PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1
PEPD peptidase D
PEX1 peroxisomal biogenesis factor 1
PEX7 peroxisomal biogenesis factor 7
PFKM phosphofructokinase, muscle
PGAM2 phosphoglycerate mutase 2
PGAP2 post-GPI attachment to proteins 2
PGK1 phosphoglycerate kinase 1
PGM3 phosphoglucomutase 3
PHEX phosphate regulating endopeptidase homolog X-linked
PHF8 PHD finger protein 8
PHF21A PHD finger protein 21A
PHGDH phosphoglycerate dehydrogenase
PHKA1 phosphorylase kinase regulatory subunit alpha 1
PHKA2 phosphorylase kinase regulatory subunit alpha 2
PHKB phosphorylase kinase regulatory subunit beta
PHKG2 phosphorylase kinase catalytic subunit gamma 2
PHOX2A paired like homeobox 2A
PHOX2B paired like homeobox 2B
PHYH phytanoyl-CoA 2-hydroxylase
PIGA phosphatidylinositol glycan anchor biosynthesis class A
PIGO phosphatidylinositol glycan anchor biosynthesis class O
PIGV phosphatidylinositol glycan anchor biosynthesis class V
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
PIK3R1 phosphoinositide-3-kinase regulatory subunit 1
PIK3R2 phosphoinositide-3-kinase regulatory subunit 2
PINK1 PTEN induced kinase 1
PITX1 paired like homeodomain 1
PITX2 paired like homeodomain 2
PKD1 polycystin 1, transient receptor potential channel interacting
PKD2 polycystin 2, transient receptor potential cation channel
PKHD1 PKHD1, fibrocystin/polyductin
PKLR pyruvate kinase L/R
PKP2 plakophilin 2
PLA2G6 phospholipase A2 group VI
PLAGL1 PLAG1 like zinc finger 1
PLCB4 phospholipase C beta 4
PLCG2 phospholipase C gamma 2
PLEC plectin
PLG plasminogen
PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
PLP1 proteolipid protein 1
PML promyelocytic leukemia
PMM2 phosphomannomutase 2
PMP22 peripheral myelin protein 22
PMS2 PMS1 homolog 2, mismatch repair system component
PNKD PNKD, MBL domain containing
PNKP polynucleotide kinase 3′-phosphatase
PNP purine nucleoside phosphorylase
PNPLA2 patatin like phospholipase domain containing 2
PNPLA3 patatin like phospholipase domain containing 3
PNPLA6 patatin like phospholipase domain containing 6
PNPO pyridoxamine 5′-phosphate oxidase
POFUT1 protein O-fucosyltransferase 1
POGLUT1 protein O-glucosyltransferase 1
POGZ pogo transposable element derived with ZNF domain
POLG DNA polymerase gamma, catalytic subunit
POLH DNA polymerase eta
POLR1C RNA polymerase I and III subunit C
POLR1D RNA polymerase I and III subunit D
POLR3A RNA polymerase III subunit A
POLR3B RNA polymerase III subunit B
POMC proopiomelanocortin
POMT1 protein O-mannosyltransferase 1
POMT2 protein O-mannosyltransferase 2
POR cytochrome p450 oxidoreductase
PORCN porcupine O-acyltransferase
POU3F4 POU class 3 homeobox 4
PPOX protoporphyrinogen oxidase
PPP2R5D protein phosphatase 2 regulatory subunit B’delta
PPT1 palmitoyl-protein thioesterase 1
PQBP1 polyglutamine binding protein 1
PRF1 perforin 1
PRICKLE1 prickle planar cell polarity protein 1
PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2
PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha
PRKN parkin RBR E3 ubiquitin protein ligase
PRKRA protein activator of interferon induced protein kinase EIF2AK2
PRNP prion protein
PROC protein C, inactivator of coagulation factors Va and VIIIa
PRODH proline dehydrogenase 1
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PROP1 PROP paired-like homeobox 1
PROS1 protein S
PRPH2 peripherin 2
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRRT2 proline rich transmembrane protein 2
PRSS1 serine protease 1
PSAP prosaposin
PSEN1 presenilin 1
PSEN2 presenilin 2
PSENEN presenilin enhancer, gamma-secretase subunit
PSMB8 proteasome subunit beta 8
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22
PTS 6-pyruvoyltetrahydropterin synthase
PURA purine rich element binding protein A
PYGL glycogen phosphorylase L
PYGM glycogen phosphorylase, muscle associated
QDPR quinoid dihydropteridine reductase
RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1
RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2
RAB18 RAB18, member RAS oncogene family
RAB23 RAB23, member RAS oncogene family
RAB27A RAB27A, member RAS oncogene family
RAD21 RAD21 cohesin complex component
RAD51 RAD51 recombinase
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAG1 recombination activating 1
RAG2 recombination activating 2
RAI1 retinoic acid induced 1
RANBP2 RAN binding protein 2
RAPSN receptor associated protein of the synapse
RARA retinoic acid receptor alpha
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RASA1 RAS p21 protein activator 1
RB1 RB transcriptional corepressor 1
RBM8A RNA binding motif protein 8A
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RDH5 retinol dehydrogenase 5
RECQL4 RecQ like helicase 4
REEP1 receptor accessory protein 1
RELN reelin
REN renin
RERE arginine-glutamic acid dipeptide repeats
RET ret proto-oncogene
RETREG1 reticulophagy regulator 1
RFX5 regulatory factor X5
RFXANK regulatory factor X associated ankyrin containing protein
RFXAP regulatory factor X associated protein
RGS9 regulator of G protein signaling 9
RGS9BP regulator of G protein signaling 9 binding protein
RHO rhodopsin
RIT1 Ras like without CAAX 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNASEH2A ribonuclease H2 subunit A
RNASEH2B ribonuclease H2 subunit B
RNASEH2C ribonuclease H2 subunit C
RNASET2 ribonuclease T2
RNF213 ring finger protein 213
RNF216 ring finger protein 216
ROBO3 roundabout guidance receptor 3
ROR2 receptor tyrosine kinase like orphan receptor 2
RP2 RP2, ARL3 GTPase activating protein
RPE65 RPE65, retinoid isomerohydrolase
RPGR retinitis pigmentosa GTPase regulator
RPL5 ribosomal protein L5
RPL11 ribosomal protein L11
RPL35A ribosomal protein L35a
RPS6KA3 ribosomal protein S6 kinase A3
RPS10 ribosomal protein S10
RPS14 ribosomal protein S14
RPS17 ribosomal protein S17
RPS19 ribosomal protein S19
RPS24 ribosomal protein S24
RPS26 ribosomal protein S26
RPSA ribosomal protein SA
RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B
RS1 retinoschisin 1
RSPO4 R-spondin 4
RUNX1 runt related transcription factor 1
RUNX1T1 RUNX1 translocation partner 1
RUNX2 runt related transcription factor 2
RYR1 ryanodine receptor 1
RYR2 ryanodine receptor 2
SAA1 serum amyloid A1
SACS sacsin molecular chaperone
SALL1 spalt like transcription factor 1
SALL4 spalt like transcription factor 4
SAMD9L sterile alpha motif domain containing 9 like
SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
SAR1B secretion associated Ras related GTPase 1B
SATB2 SATB homeobox 2
SBDS SBDS, ribosome maturation factor
SCARB2 scavenger receptor class B member 2
SCN1A sodium voltage-gated channel alpha subunit 1
SCN4A sodium voltage-gated channel alpha subunit 4
SCN5A sodium voltage-gated channel alpha subunit 5
SCN8A sodium voltage-gated channel alpha subunit 8
SCN9A sodium voltage-gated channel alpha subunit 9
SCN10A sodium voltage-gated channel alpha subunit 10
SCNN1A sodium channel epithelial 1 alpha subunit
SCNN1B sodium channel epithelial 1 beta subunit
SCNN1G sodium channel epithelial 1 gamma subunit
SDHA succinate dehydrogenase complex flavoprotein subunit A
SDHAF2 succinate dehydrogenase complex assembly factor 2
SDHB succinate dehydrogenase complex iron sulfur subunit B
SDHC succinate dehydrogenase complex subunit C
SDHD succinate dehydrogenase complex subunit D
SEC23B Sec23 homolog B, coat complex II component
SELENON selenoprotein N
SEPSECS Sep (O-phosphoserine) tRNA
SEPTIN9 septin 9
SERAC1 serine active site containing 1
SERPINA1 serpin family A member 1
SERPINA6 serpin family A member 6
SERPINA7 serpin family A member 7
SERPINC1 serpin family C member 1
SERPINE1 serpin family E member 1
SERPING1 serpin family G member 1
SERPINI1 serpin family I member 1
SETBP1 SET binding protein 1
SETX senataxin
SF3B4 splicing factor 3b subunit 4
SFRP4 secreted frizzled related protein 4
SFTPB surfactant protein B
SFTPC surfactant protein C
SGCA sarcoglycan alpha
SGCB sarcoglycan beta
SGCD sarcoglycan delta
SGCE sarcoglycan epsilon
SGCG sarcoglycan gamma
SGO1 shugoshin 1
SGSH N-sulfoglucosamine sulfohydrolase
SH2D1A SH2 domain containing 1A
SH3BP2 SH3 domain binding protein 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHH sonic hedgehog
SHOX short stature homeobox
SI sucrase-isomaltase
SIL1 SIL1 nucleotide exchange factor
SIX1 SIX homeobox 1
SIX3 SIX homeobox 3
SIX5 SIX homeobox 5
SKI SKI proto-oncogene
SKIV2L Ski2 like RNA helicase
SLC1A3 solute carrier family 1 member 3
SLC2A1 solute carrier family 2 member 1
SLC2A9 solute carrier family 2 member 9
SLC2A10 solute carrier family 2 member 10
SLC3A1 solute carrier family 3 member 1
SLC4A1 solute carrier family 4 member 1 (Diego blood group)
SLC5A1 solute carrier family 5 member 1
SLC5A5 solute carrier family 5 member 5
SLC6A3 solute carrier family 6 member 3
SLC6A8 solute carrier family 6 member 8
SLC6A19 solute carrier family 6 member 19
SLC7A7 solute carrier family 7 member 7
SLC7A9 solute carrier family 7 member 9
SLC9A6 solute carrier family 9 member A6
SLC11A2 solute carrier family 11 member 2
SLC12A1 solute carrier family 12 member 1
SLC12A3 solute carrier family 12 member 3
SLC12A6 solute carrier family 12 member 6
SLC16A2 solute carrier family 16 member 2
SLC17A5 solute carrier family 17 member 5
SLC19A2 solute carrier family 19 member 2
SLC19A3 solute carrier family 19 member 3
SLC20A2 solute carrier family 20 member 2
SLC22A5 solute carrier family 22 member 5
SLC22A12 solute carrier family 22 member 12
SLC25A1 solute carrier family 25 member 1
SLC25A4 solute carrier family 25 member 4
SLC25A13 solute carrier family 25 member 13
SLC25A15 solute carrier family 25 member 15
SLC25A19 solute carrier family 25 member 19
SLC25A20 solute carrier family 25 member 20
SLC25A24 solute carrier family 25 member 24
SLC26A2 solute carrier family 26 member 2
SLC26A4 solute carrier family 26 member 4
SLC29A3 solute carrier family 29 member 3
SLC30A10 solute carrier family 30 member 10
SLC34A1 solute carrier family 34 member 1
SLC34A2 solute carrier family 34 member 2
SLC35A2 solute carrier family 35 member A2
SLC37A4 solute carrier family 37 member 4
SLC39A14 solute carrier family 39 member 14
SLC40A1 solute carrier family 40 member 1
SLC45A2 solute carrier family 45 member 2
SLC46A1 solute carrier family 46 member 1
SLC52A2 solute carrier family 52 member 2
SLC52A3 solute carrier family 52 member 3
SLCO1B1 solute carrier organic anion transporter family member 1B1
SLCO1B3 solute carrier organic anion transporter family member 1B3
SLITRK1 SLIT and NTRK like family member 1
SLITRK6 SLIT and NTRK like family member 6
SLURP1 secreted LY6/PLAUR domain containing 1
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
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
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SMOC1 SPARC related modular calcium binding 1
SMPD1 sphingomyelin phosphodiesterase 1
SMS spermine synthase
SNAI2 snail family transcriptional repressor 2
SNCA synuclein alpha
SNCB synuclein beta
SOD1 superoxide dismutase 1
SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1
SOST sclerostin
SOX2 SRY-box 2
SOX9 SRY-box 9
SOX10 SRY-box 10
SP110 SP110 nuclear body protein
SPART spartin
SPAST spastin
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like
SPG7 SPG7, paraplegin matrix AAA peptidase subunit
SPG11 SPG11, spatacsin vesicle trafficking associated
SPINK5 serine peptidase inhibitor, Kazal type 5
SPR sepiapterin reductase
SPRED1 sprouty related EVH1 domain containing 1
SPTLC1 serine palmitoyltransferase long chain base subunit 1
SQSTM1 sequestosome 1
SRCAP Snf2 related CREBBP activator protein
SRD5A2 steroid 5 alpha-reductase 2
SRY sex determining region Y
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STAMBP STAM binding protein
STAT1 signal transducer and activator of transcription 1
STAT3 signal transducer and activator of transcription 3
STAT4 signal transducer and activator of transcription 4
STIM1 stromal interaction molecule 1
STING1 stimulator of interferon response cGAMP interactor 1
STK11 serine/threonine kinase 11
STRC stereocilin
STXBP1 syntaxin binding protein 1
SUCLA2 succinate-CoA ligase ADP-forming beta subunit
SUCLG1 succinate-CoA ligase alpha subunit
SUMF1 sulfatase modifying factor 1
SUOX sulfite oxidase
SURF1 SURF1, cytochrome c oxidase assembly factor
SYNE1 spectrin repeat containing nuclear envelope protein 1
SYNGAP1 synaptic Ras GTPase activating protein 1
TAF1 TATA-box binding protein associated factor 1
TAP1 transporter 1, ATP binding cassette subfamily B member
TAP2 transporter 2, ATP binding cassette subfamily B member
TARDBP TAR DNA binding protein
TAT tyrosine aminotransferase
TAZ tafazzin
TBC1D20 TBC1 domain family member 20
TBC1D24 TBC1 domain family member 24
TBP TATA-box binding protein
TBX1 T-box 1
TBX5 T-box 5
TBXAS1 thromboxane A synthase 1
TBXT T-box transcription factor T
TCF4 transcription factor 4
TCHH trichohyalin
TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
TCN2 transcobalamin 2
TCOF1 treacle ribosome biogenesis factor 1
TECPR2 tectonin beta-propeller repeat containing 2
TECTA tectorin alpha
TEK TEK receptor tyrosine kinase
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TFAP2A transcription factor AP-2 alpha
TFAP2B transcription factor AP-2 beta
TFR2 transferrin receptor 2
TG thyroglobulin
TGFB1 transforming growth factor beta 1
TGFB2 transforming growth factor beta 2
TGFB3 transforming growth factor beta 3
TGFBI transforming growth factor beta induced
TGFBR1 transforming growth factor beta receptor 1
TGFBR2 transforming growth factor beta receptor 2
TGIF1 TGFB induced factor homeobox 1
TGM1 transglutaminase 1
TGM3 transglutaminase 3
TGM5 transglutaminase 5
TH tyrosine hydroxylase
THAP1 THAP domain containing 1
THPO thrombopoietin
TIMM8A translocase of inner mitochondrial membrane 8A
TINF2 TERF1 interacting nuclear factor 2
TK2 thymidine kinase 2, mitochondrial
TMCO1 transmembrane and coiled-coil domains 1
TMEM70 transmembrane protein 70
TMEM127 transmembrane protein 127
TMPRSS6 transmembrane serine protease 6
TNFRSF1A TNF receptor superfamily member 1A
TNFRSF11A TNF receptor superfamily member 11a
TNFRSF11B TNF receptor superfamily member 11b
TNFRSF13B TNF receptor superfamily member 13B
TNNI2 troponin I2, fast skeletal type
TNNI3 troponin I3, cardiac type
TNNT2 troponin T2, cardiac type
TNNT3 troponin T3, fast skeletal type
TNXB tenascin XB
TOR1A torsin family 1 member A
TP53 tumor protein p53
TP63 tumor protein p63
TPI1 triosephosphate isomerase 1
TPM2 tropomyosin 2
TPM3 tropomyosin 3
TPMT thiopurine S-methyltransferase
TPO thyroid peroxidase
TPP1 tripeptidyl peptidase 1
TRAPPC2 trafficking protein particle complex 2
TREM2 triggering receptor expressed on myeloid cells 2
TREX1 three prime repair exonuclease 1
TRIP11 thyroid hormone receptor interactor 11
TRIP13 thyroid hormone receptor interactor 13
TRNT1 tRNA nucleotidyl transferase 1
TRPM1 transient receptor potential cation channel subfamily M member 1
TRPM4 transient receptor potential cation channel subfamily M member 4
TRPM6 transient receptor potential cation channel subfamily M member 6
TRPS1 transcriptional repressor GATA binding 1
TRPV4 transient receptor potential cation channel subfamily V member 4
TSC1 TSC complex subunit 1
TSC2 TSC complex subunit 2
TSEN2 tRNA splicing endonuclease subunit 2
TSEN34 tRNA splicing endonuclease subunit 34
TSEN54 tRNA splicing endonuclease subunit 54
TSHB thyroid stimulating hormone beta
TSHR thyroid stimulating hormone receptor
TSPYL1 TSPY like 1
TTC37 tetratricopeptide repeat domain 37
TTN titin
TTPA alpha tocopherol transfer protein
TTR transthyretin
TUBA1A tubulin alpha 1a
TUBB2B tubulin beta 2B class IIb
TUBB3 tubulin beta 3 class III
TUBB4A tubulin beta 4A class IVa
TWIST1 twist family bHLH transcription factor 1
TWNK twinkle mtDNA helicase
TXNL4A thioredoxin like 4A
TYMP thymidine phosphorylase
TYR tyrosinase
TYROBP TYRO protein tyrosine kinase binding protein
TYRP1 tyrosinase related protein 1
UBA1 ubiquitin like modifier activating enzyme 1
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
UCHL1 ubiquitin C-terminal hydrolase L1
UGT1A1 UDP glucuronosyltransferase family 1 member A1
UMOD uromodulin
UNC13D unc-13 homolog D
UNC80 unc-80 homolog, NALCN channel complex subunit
UPB1 beta-ureidopropionase 1
UROD uroporphyrinogen decarboxylase
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis phosphodiesterase 1
USH2A usherin
UTP4 UTP4, small subunit processome component
UVSSA UV stimulated scaffold protein A
VCAN versican
VCP valosin containing protein
VDR vitamin D receptor
VHL von Hippel-Lindau tumor suppressor
VKORC1 vitamin K epoxide reductase complex subunit 1
VLDLR very low density lipoprotein receptor
VPS13A vacuolar protein sorting 13 homolog A
VPS13B vacuolar protein sorting 13 homolog B
VRK1 VRK serine/threonine kinase 1
VWF von Willebrand factor
WAS Wiskott-Aldrich syndrome
WASHC5 WASH complex subunit 5
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WDR45 WD repeat domain 45
WFS1 wolframin ER transmembrane glycoprotein
WNK1 WNK lysine deficient protein kinase 1
WNK4 WNK lysine deficient protein kinase 4
WNT3 Wnt family member 3
WNT4 Wnt family member 4
WNT5A Wnt family member 5A
WNT10A Wnt family member 10A
WRN Werner syndrome RecQ like helicase
WT1 Wilms tumor 1
XDH xanthine dehydrogenase
XIAP X-linked inhibitor of apoptosis
XK X-linked Kx blood group
XPA XPA, DNA damage recognition and repair factor
XPC XPC complex subunit, DNA damage recognition and repair factor
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
YY1AP1 YY1 associated protein 1
ZAP70 zeta chain of T cell receptor associated protein kinase 70
ZEB2 zinc finger E-box binding homeobox 2
ZFP57 ZFP57 zinc finger protein
ZFYVE26 zinc finger FYVE-type containing 26
ZIC2 Zic family member 2
ZMPSTE24 zinc metallopeptidase STE24
ZMYM2 zinc finger MYM-type containing 2
ZNF341 zinc finger protein 341

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