abnormality of the head Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the head. (Human Phenotype Ontology, HP_0000234)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000234
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Genes

1649 genes associated with the abnormality of the head 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
ABAT 4-aminobutyrate aminotransferase
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ABHD5 abhydrolase domain containing 5
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACADSB acyl-CoA dehydrogenase, short/branched chain
ACAN aggrecan
ACE angiotensin I converting enzyme
ACO2 aconitase 2, mitochondrial
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACP5 acid phosphatase 5, tartrate resistant
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTA1 actin, alpha 1, skeletal muscle
ACTB actin, beta
ACTG1 actin gamma 1
ACTG2 actin, gamma 2, smooth muscle, enteric
ACTN1 actinin, alpha 1
ACVR1 activin A receptor, type I
ACVRL1 activin A receptor type II-like 1
ACY1 aminoacylase 1
ADA adenosine deaminase
ADAM17 ADAM metallopeptidase domain 17
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTSL2 ADAMTS-like 2
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
ADNP activity-dependent neuroprotector homeobox
ADSL adenylosuccinate lyase
AFF2 AF4/FMR2 family, member 2
AGA aspartylglucosaminidase
AGGF1 angiogenic factor with G patch and FHA domains 1
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGRN agrin
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AHCY adenosylhomocysteinase
AHDC1 AT hook, DNA binding motif, containing 1
AHI1 Abelson helper integration site 1
AICDA activation-induced cytidine deaminase
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AIP aryl hydrocarbon receptor interacting protein
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
AIRE autoimmune regulator
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALDOA aldolase A, fructose-bisphosphate
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG11 ALG11, alpha-1,2-mannosyltransferase
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALMS1 Alstrom syndrome protein 1
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
ALPL alkaline phosphatase, liver/bone/kidney
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ALX1 ALX homeobox 1
ALX3 ALX homeobox 3
ALX4 ALX homeobox 4
AMACR alpha-methylacyl-CoA racemase
AMELX amelogenin, X-linked
AMELY amelogenin, Y-linked
AMER1 APC membrane recruitment protein 1
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
AMPD2 adenosine monophosphate deaminase 2
ANK1 ankyrin 1, erythrocytic
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
ANKRD55 ankyrin repeat domain 55
ANO3 anoctamin 3
ANO5 anoctamin 5
ANOS1 anosmin 1
ANTXR1 anthrax toxin receptor 1
ANTXR2 anthrax toxin receptor 2
AP1S1 adaptor-related protein complex 1, sigma 1 subunit
AP1S2 adaptor-related protein complex 1, sigma 2 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
APC adenomatous polyposis coli
APCDD1 adenomatosis polyposis coli down-regulated 1
APOB apolipoprotein B
APOE apolipoprotein E
APTX aprataxin
AR androgen receptor
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
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
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
ARMC4 armadillo repeat containing 4
ARMC5 armadillo repeat containing 5
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARSB arylsulfatase B
ARSE arylsulfatase E (chondrodysplasia punctata 1)
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ARX aristaless related homeobox
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASCL1 achaete-scute family bHLH transcription factor 1
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASPA aspartoacylase
ASPH aspartate beta-hydroxylase
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ASXL1 additional sex combs like transcriptional regulator 1
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATM ATM serine/threonine kinase
ATOH7 atonal homolog 7 (Drosophila)
ATP10A ATPase, class V, type 10A
ATP13A2 ATPase type 13A2
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2C1 ATPase, Ca++ transporting, type 2C, member 1
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
ATRX alpha thalassemia/mental retardation syndrome X-linked
ATXN3 ataxin 3
AUH AU RNA binding protein/enoyl-CoA hydratase
AVP arginine vasopressin
AXIN2 axin 2
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
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
B9D2 B9 protein domain 2
BAG3 BCL2-associated athanogene 3
BANF1 barrier to autointegration factor 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBIP1 BBSome interacting protein 1
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BCAP31 B-cell receptor-associated protein 31
BCOR BCL6 corepressor
BCR breakpoint cluster region
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BDNF brain-derived neurotrophic factor
BEST1 bestrophin 1
BIN1 bridging integrator 1
BLM Bloom syndrome, RecQ helicase-like
BLNK B-cell linker
BMP1 bone morphogenetic protein 1
BMP15 bone morphogenetic protein 15
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BMPER BMP binding endothelial regulator
BMS1 BMS1 ribosome biogenesis factor
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BRWD3 bromodomain and WD repeat domain containing 3
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BTK Bruton agammaglobulinemia tyrosine kinase
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C12ORF57 chromosome 12 open reading frame 57
C12ORF65 chromosome 12 open reading frame 65
C1R complement component 1, r subcomponent
C21ORF59 chromosome 21 open reading frame 59
C2CD3 C2 calcium-dependent domain containing 3
C2ORF71 chromosome 2 open reading frame 71
C4A complement component 4A (Rodgers blood group)
C4ORF26 chromosome 4 open reading frame 26
C5ORF42 chromosome 5 open reading frame 42
C8ORF37 chromosome 8 open reading frame 37
CA2 carbonic anhydrase II
CA4 carbonic anhydrase IV
CAMKMT calmodulin-lysine N-methyltransferase
CAMTA1 calmodulin binding transcription activator 1
CANT1 calcium activated nucleotidase 1
CAPN3 calpain 3, (p94)
CARD14 caspase recruitment domain family, member 14
CARD9 caspase recruitment domain family, member 9
CASC5 cancer susceptibility candidate 5
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CAT catalase
CAV1 caveolin 1, caveolae protein, 22kDa
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CBS cystathionine-beta-synthase
CC2D1A coiled-coil and C2 domain containing 1A
CC2D2A coiled-coil and C2 domain containing 2A
CCBE1 collagen and calcium binding EGF domains 1
CCDC103 coiled-coil domain containing 103
CCDC114 coiled-coil domain containing 114
CCDC22 coiled-coil domain containing 22
CCDC39 coiled-coil domain containing 39
CCDC40 coiled-coil domain containing 40
CCDC65 coiled-coil domain containing 65
CCDC8 coiled-coil domain containing 8
CCND2 cyclin D2
CCR6 chemokine (C-C motif) receptor 6
CD19 CD19 molecule
CD247 CD247 molecule
CD40LG CD40 ligand
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CD81 CD81 molecule
CD96 CD96 molecule
CDC6 cell division cycle 6
CDC73 cell division cycle 73
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDH23 cadherin-related 23
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDHR1 cadherin-related family member 1
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDKL5 cyclin-dependent kinase-like 5
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDON cell adhesion associated, oncogene regulated
CDT1 chromatin licensing and DNA replication factor 1
CECR1 cat eye syndrome chromosome region, candidate 1
CENPJ centromere protein J
CEP135 centrosomal protein 135kDa
CEP152 centrosomal protein 152kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CEP57 centrosomal protein 57kDa
CEP63 centrosomal protein 63kDa
CERKL ceramide kinase-like
CERS3 ceramide synthase 3
CFI complement factor I
CFL2 cofilin 2 (muscle)
CHD7 chromodomain helicase DNA binding protein 7
CHKB choline kinase beta
CHL1 cell adhesion molecule L1-like
CHMP1A charged multivesicular body protein 1A
CHN1 chimerin 1
CHRM3 cholinergic receptor, muscarinic 3
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)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CHSY1 chondroitin sulfate synthase 1
CHUK conserved helix-loop-helix ubiquitous kinase
CIB2 calcium and integrin binding family member 2
CIITA class II, major histocompatibility complex, transactivator
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLCF1 cardiotrophin-like cytokine factor 1
CLCN7 chloride channel, voltage-sensitive 7
CLDN1 claudin 1
CLEC7A C-type lectin domain family 7, member A
CLIP2 CAP-GLY domain containing linker protein 2
CLP1 cleavage and polyadenylation factor I subunit 1
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
CLRN1 clarin 1
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB1 cyclic nucleotide gated channel beta 1
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4
CNTN1 contactin 1
CNTN4 contactin 4
COG1 component of oligomeric golgi complex 1
COG4 component of oligomeric golgi complex 4
COG6 component of oligomeric golgi complex 6
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL17A1 collagen, type XVII, alpha 1
COL18A1 collagen, type XVIII, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL27A1 collagen, type XXVII, alpha 1
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, 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
COL7A1 collagen, type VII, alpha 1
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COLEC11 collectin sub-family member 11
COMT catechol-O-methyltransferase
COQ9 coenzyme Q9
COX1
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX2
COX3
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
COX7B cytochrome c oxidase subunit VIIb
CP ceruloplasmin (ferroxidase)
CPT2 carnitine palmitoyltransferase 2
CR2 complement component (3d/Epstein Barr virus) receptor 2
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRBN cereblon
CREBBP CREB binding protein
CRH corticotropin releasing hormone
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRLF1 cytokine receptor-like factor 1
CRTAP cartilage associated protein
CRX cone-rod homeobox
CRYAA crystallin, alpha A
CSF3R colony stimulating factor 3 receptor (granulocyte)
CSPP1 centrosome and spindle pole associated protein 1
CTC1 CTS telomere maintenance complex component 1
CTCF CCCTC-binding factor (zinc finger protein)
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTGF connective tissue growth factor
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNND2 catenin (cadherin-associated protein), delta 2
CTNS cystinosin, lysosomal cystine transporter
CTSA cathepsin A
CTSC cathepsin C
CTSD cathepsin D
CTSK cathepsin K
CUL4B cullin 4B
CUL7 cullin 7
CXCR4 chemokine (C-X-C motif) receptor 4
CYB5R3 cytochrome b5 reductase 3
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
CYFIP1 cytoplasmic FMR1 interacting protein 1
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
D2HGDH D-2-hydroxyglutarate dehydrogenase
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DCAF17 DDB1 and CUL4 associated factor 17
DCHS1 dachsous cadherin-related 1
DCLRE1C DNA cross-link repair 1C
DCTN1 dynactin 1
DDB2 damage-specific DNA binding protein 2, 48kDa
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DDHD2 DDHD domain containing 2
DDR2 discoidin domain receptor tyrosine kinase 2
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
DEAF1 DEAF1 transcription factor
DES desmin
DFNB31 deafness, autosomal recessive 31
DGUOK deoxyguanosine kinase
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
DHFR dihydrofolate reductase
DHODH dihydroorotate dehydrogenase (quinone)
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DKC1 dyskeratosis congenita 1, dyskerin
DLAT dihydrolipoamide S-acetyltransferase
DLD dihydrolipoamide dehydrogenase
DLG3 discs, large homolog 3 (Drosophila)
DLL3 delta-like 3 (Drosophila)
DLX3 distal-less homeobox 3
DMP1 dentin matrix acidic phosphoprotein 1
DMPK dystrophia myotonica-protein kinase
DNA2 DNA replication helicase/nuclease 2
DNAAF1 dynein, axonemal, assembly factor 1
DNAAF2 dynein, axonemal, assembly factor 2
DNAAF3 dynein, axonemal, assembly factor 3
DNAAF5 dynein, axonemal, assembly factor 5
DNAI1 dynein, axonemal, intermediate chain 1
DNAI2 dynein, axonemal, intermediate chain 2
DNAL1 dynein, axonemal, light chain 1
DNM1L dynamin 1-like
DNM2 dynamin 2
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOCK6 dedicator of cytokinesis 6
DOCK7 dedicator of cytokinesis 7
DOCK8 dedicator of cytokinesis 8
DOK7 docking protein 7
DOLK dolichol kinase
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DPP6 dipeptidyl-peptidase 6
DPYD dihydropyrimidine dehydrogenase
DPYS dihydropyrimidinase
DRC1 dynein regulatory complex subunit 1
DSC3 desmocollin 3
DSE dermatan sulfate epimerase
DSG4 desmoglein 4
DSP desmoplakin
DSPP dentin sialophosphoprotein
DST dystonin
DUOX2 dual oxidase 2
DUOXA2 dual oxidase maturation factor 2
DUSP6 dual specificity phosphatase 6
DUX4 double homeobox 4
DYM dymeclin
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
DYX1C1 dyslexia susceptibility 1 candidate 1
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
EBP emopamil binding protein (sterol isomerase)
ECE1 endothelin converting enzyme 1
ECEL1 endothelin converting enzyme-like 1
ECM1 extracellular matrix protein 1
EDA ectodysplasin A
EDA2R ectodysplasin A2 receptor
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EDN1 endothelin 1
EDN3 endothelin 3
EDNRB endothelin receptor type B
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFNB1 ephrin-B1
EFTUD2 elongation factor Tu GTP binding domain containing 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
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
EIF4A3 eukaryotic translation initiation factor 4A3
ELAC2 elaC ribonuclease Z 2
ELANE elastase, neutrophil expressed
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
EMG1 EMG1 N1-specific pseudouridine methyltransferase
ENAM enamelin
ENG endoglin
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EP300 E1A binding protein p300
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
EPHX2 epoxide hydrolase 2, cytoplasmic
EPOR erythropoietin receptor
EPS8L3 EPS8-like 3
ERBB3 erb-b2 receptor tyrosine kinase 3
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ERCC6L2 excision repair cross-complementation group 6-like 2
ERCC8 excision repair cross-complementation group 8
ERF Ets2 repressor factor
ERLIN2 ER lipid raft associated 2
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 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
EYS eyes shut homolog (Drosophila)
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
F10 coagulation factor X
F13A1 coagulation factor XIII, A1 polypeptide
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
FAM111A family with sequence similarity 111, member A
FAM134B family with sequence similarity 134, member B
FAM161A family with sequence similarity 161, member A
FAM20A family with sequence similarity 20, member A
FAM20C family with sequence similarity 20, member C
FAM58A family with sequence similarity 58, member A
FAM83H family with sequence similarity 83, member H
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
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
FBXO31 F-box protein 31
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FERMT1 fermitin family member 1
FERMT3 fermitin family member 3
FEZF1 FEZ family zinc finger 1
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF10 fibroblast growth factor 10
FGF17 fibroblast growth factor 17
FGF20 fibroblast growth factor 20
FGF23 fibroblast growth factor 23
FGF3 fibroblast growth factor 3
FGF5 fibroblast growth factor 5
FGF8 fibroblast growth factor 8 (androgen-induced)
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGG fibrinogen gamma chain
FH fumarate hydratase
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP10 FK506 binding protein 10, 65 kDa
FKBP14 FK506 binding protein 14, 22 kDa
FKRP fukutin related protein
FKTN fukutin
FLCN folliculin
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FLRT3 fibronectin leucine rich transmembrane protein 3
FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2
FMR1 fragile X mental retardation 1
FNBP4 formin binding protein 4
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXE1 forkhead box E1
FOXE3 forkhead box E3
FOXG1 forkhead box G1
FOXL2 forkhead box L2
FOXP2 forkhead box P2
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
FRG1 FSHD region gene 1
FSCN2 fascin actin-bundling protein 2, retinal
FSHR follicle stimulating hormone receptor
FTL ferritin, light polypeptide
FTO fat mass and obesity associated
FTSJ1 FtsJ RNA methyltransferase homolog 1 (E. coli)
FUCA1 fucosidase, alpha-L- 1, tissue
FUZ fuzzy planar cell polarity protein
G6PC glucose-6-phosphatase, catalytic subunit
G6PC3 glucose 6 phosphatase, catalytic, 3
GAA glucosidase, alpha; acid
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GALNS galactosamine (N-acetyl)-6-sulfatase
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GAN gigaxonin
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GATA6 GATA binding protein 6
GBA glucosidase, beta, acid
GCDH glutaryl-CoA dehydrogenase
GCK glucokinase (hexokinase 4)
GCM2 glial cells missing homolog 2 (Drosophila)
GDF1 growth differentiation factor 1
GDF2 growth differentiation factor 2
GDF3 growth differentiation factor 3
GDF5 growth differentiation factor 5
GDF6 growth differentiation factor 6
GDNF glial cell derived neurotrophic factor
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
GGCX gamma-glutamyl carboxylase
GH1 growth hormone 1
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GJA5 gap junction protein, alpha 5, 40kDa
GJB2 gap junction protein, beta 2, 26kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GJB6 gap junction protein, beta 6, 30kDa
GJC2 gap junction protein, gamma 2, 47kDa
GK glycerol kinase
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GLE1 GLE1 RNA export mediator
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GLUL glutamate-ammonia ligase
GLYCTK glycerate kinase
GMPPA GDP-mannose pyrophosphorylase A
GMPPB GDP-mannose pyrophosphorylase B
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNPAT glyceronephosphate O-acyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GNS glucosamine (N-acetyl)-6-sulfatase
GORAB golgin, RAB6-interacting
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GP1BB glycoprotein Ib (platelet), beta polypeptide
GP6 glycoprotein VI (platelet)
GP9 glycoprotein IX (platelet)
GPC3 glypican 3
GPC4 glypican 4
GPC6 glypican 6
GPSM2 G-protein signaling modulator 2
GPX4 glutathione peroxidase 4
GRHL3 grainyhead-like 3 (Drosophila)
GRIA3 glutamate receptor, ionotropic, AMPA 3
GRIP1 glutamate receptor interacting protein 1
GSC goosecoid homeobox
GTF2H5 general transcription factor IIH, polypeptide 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCA1B guanylate cyclase activator 1B (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
GUSB glucuronidase, beta
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HCCS holocytochrome c synthase
HCFC1 host cell factor C1
HDAC4 histone deacetylase 4
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
HDAC9 histone deacetylase 9
HEPACAM hepatic and glial cell adhesion molecule
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HES7 hes family bHLH transcription factor 7
HESX1 HESX homeobox 1
HEXB hexosaminidase B (beta polypeptide)
HGD homogentisate 1,2-dioxygenase
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HHAT hedgehog acyltransferase
HIBCH 3-hydroxyisobutyryl-CoA hydrolase
HIC1 hypermethylated in cancer 1
HIRA histone cell cycle regulator
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HMGA2 high mobility group AT-hook 2
HMGB3 high mobility group box 3
HMX1 H6 family homeobox 1
HNF1B HNF1 homeobox B
HOXA2 homeobox A2
HOXB1 homeobox B1
HOXD13 homeobox D13
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HPS1 Hermansky-Pudlak syndrome 1
HPS6 Hermansky-Pudlak syndrome 6
HPSE2 heparanase 2 (inactive)
HR hair growth associated
HRAS Harvey rat sarcoma viral oncogene homolog
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HSPG2 heparan sulfate proteoglycan 2
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
HYAL1 hyaluronoglucosaminidase 1
HYDIN HYDIN, axonemal central pair apparatus protein
HYLS1 hydrolethalus syndrome 1
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
ICK intestinal cell (MAK-like) kinase
ICOS inducible T-cell co-stimulator
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IER3IP1 immediate early response 3 interacting protein 1
IFIH1 interferon induced with helicase C domain 1
IFITM5 interferon induced transmembrane protein 5
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IFT43 intraflagellar transport 43
IFT80 intraflagellar transport 80
IGBP1 immunoglobulin (CD79A) binding protein 1
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IGHM immunoglobulin heavy constant mu
IGLL1 immunoglobulin lambda-like polypeptide 1
IHH indian hedgehog
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
IL10 interleukin 10
IL11RA interleukin 11 receptor, alpha
IL12RB2 interleukin 12 receptor, beta 2
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
IL17RD interleukin 17 receptor D
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
IL1RN interleukin 1 receptor antagonist
IL21R interleukin 21 receptor
IL23R interleukin 23 receptor
IL2RA interleukin 2 receptor, alpha
IL2RB interleukin 2 receptor, beta
IL2RG interleukin 2 receptor, gamma
IL36RN interleukin 36 receptor antagonist
IL7R interleukin 7 receptor
IMPAD1 inositol monophosphatase domain containing 1
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INPPL1 inositol polyphosphate phosphatase-like 1
INS insulin
INSR insulin receptor
IQCB1 IQ motif containing B1
IRF5 interferon regulatory factor 5
IRF6 interferon regulatory factor 6
IRX5 iroquois homeobox 5
ISPD isoprenoid synthase domain containing
ITCH itchy E3 ubiquitin protein ligase
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGA6 integrin, alpha 6
ITGA8 integrin, alpha 8
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITGB4 integrin, beta 4
ITK IL2-inducible T-cell kinase
IYD iodotyrosine deiodinase
JAG1 jagged 1
JAK2 Janus kinase 2
JAK3 Janus kinase 3
JAM3 junctional adhesion molecule 3
JUP junction plakoglobin
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCNK9 potassium channel, two pore domain subfamily K, member 9
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KCNT1 potassium channel, sodium activated subfamily T, member 1
KCTD1 potassium channel tetramerization domain containing 1
KCTD7 potassium channel tetramerization domain containing 7
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
KIF2A kinesin heavy chain member 2A
KIF5C kinesin family member 5C
KIF7 kinesin family member 7
KISS1 KiSS-1 metastasis-suppressor
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KIZ kizuna centrosomal protein
KL klotho
KLHL41 kelch-like family member 41
KLHL7 kelch-like family member 7
KLK4 kallikrein-related peptidase 4
KLLN killin, p53-regulated DNA replication inhibitor
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
KPTN kaptin (actin binding protein)
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT14 keratin 14, type I
KRT16 keratin 16, type I
KRT17 keratin 17, type I
KRT4 keratin 4, type II
KRT5 keratin 5, type II
KRT6A keratin 6A, type II
KRT6B keratin 6B, type II
KRT71 keratin 71, type II
KRT74 keratin 74, type II
KRT81 keratin 81, type II
KRT83 keratin 83, type II
KRT85 keratin 85, type II
KRT86 keratin 86, type II
L1CAM L1 cell adhesion molecule
L2HGDH L-2-hydroxyglutarate dehydrogenase
LAMA3 laminin, alpha 3
LAMB1 laminin, beta 1
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LARGE like-glycosyltransferase
LARP7 La ribonucleoprotein domain family, member 7
LBR lamin B receptor
LCA5 Leber congenital amaurosis 5
LDLR low density lipoprotein receptor
LEMD3 LEM domain containing 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LHX1 LIM homeobox 1
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
LIAS lipoic acid synthetase
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LINS lines homolog (Drosophila)
LIPH lipase, member H
LIPN lipase, family member N
LMBR1 limb development membrane protein 1
LMBRD1 LMBR1 domain containing 1
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
LPAR6 lysophosphatidic acid receptor 6
LPL lipoprotein lipase
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRP2 low density lipoprotein receptor-related protein 2
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
LRPPRC leucine-rich pentatricopeptide repeat containing
LRRC6 leucine rich repeat containing 6
LRRC8A leucine rich repeat containing 8 family, member A
LRRK2 leucine-rich repeat kinase 2
LTBP2 latent transforming growth factor beta binding protein 2
LTBP3 latent transforming growth factor beta binding protein 3
LTBP4 latent transforming growth factor beta binding protein 4
LTC4S leukotriene C4 synthase
LYST lysosomal trafficking regulator
LZTFL1 leucine zipper transcription factor-like 1
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAGEL2 melanoma antigen family L2
MAK male germ cell-associated kinase
MAMLD1 mastermind-like domain containing 1
MAN1B1 mannosidase, alpha, class 1B, member 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
MAPK1 mitogen-activated protein kinase 1
MAPT microtubule-associated protein tau
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MATR3 matrin 3
MBD5 methyl-CpG binding domain protein 5
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCFD2 multiple coagulation factor deficiency 2
MCM4 minichromosome maintenance complex component 4
MCOLN1 mucolipin 1
MCPH1 microcephalin 1
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MED17 mediator complex subunit 17
MEF2C myocyte enhancer factor 2C
MEFV Mediterranean fever
MEGF10 multiple EGF-like-domains 10
MEGF8 multiple EGF-like-domains 8
MEIS2 Meis homeobox 2
MEN1 multiple endocrine neoplasia I
MEOX1 mesenchyme homeobox 1
MERTK MER proto-oncogene, tyrosine kinase
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
METTL23 methyltransferase like 23
MFN2 mitofusin 2
MFRP membrane frizzled-related protein
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGME1 mitochondrial genome maintenance exonuclease 1
MGP matrix Gla protein
MID1 midline 1
MID2 midline 2
MIPOL1 mirror-image polydactyly 1
MIR17HG miR-17-92 cluster host gene
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
MLH1 mutL homolog 1
MLPH melanophilin
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMP1 matrix metallopeptidase 1
MMP13 matrix metallopeptidase 13
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MMP20 matrix metallopeptidase 20
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MOGS mannosyl-oligosaccharide glucosidase
MPC1 mitochondrial pyruvate carrier 1
MPDZ multiple PDZ domain protein
MPL MPL proto-oncogene, thrombopoietin receptor
MPLKIP M-phase specific PLK1 interacting protein
MPST mercaptopyruvate sulfurtransferase
MRPS16 mitochondrial ribosomal protein S16
MRPS22 mitochondrial ribosomal protein S22
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MSX1 msh homeobox 1
MSX2 msh homeobox 2
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
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTM1 myotubularin 1
MTMR2 myotubularin related protein 2
MUSK muscle, skeletal, receptor tyrosine kinase
MVK mevalonate kinase
MYBPC1 myosin binding protein C, slow type
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYD88 myeloid differentiation primary response 88
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
MYH9 myosin, heavy chain 9, non-muscle
MYO7A myosin VIIA
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGA N-acetylgalactosaminidase, alpha-
NAGLU N-acetylglucosaminidase, alpha
NALCN sodium leak channel, non selective
NAT8L N-acetyltransferase 8-like (GCN5-related, putative)
NBAS neuroblastoma amplified sequence
NBEAL2 neurobeachin-like 2
NBN nibrin
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
ND1
NDE1 nudE neurodevelopment protein 1
NDN necdin, melanoma antigen (MAGE) family member
NDP Norrie disease (pseudoglioma)
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NEB nebulin
NEK1 NIMA-related kinase 1
NEK2 NIMA-related kinase 2
NELFA negative elongation factor complex member A
NEU1 sialidase 1 (lysosomal sialidase)
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NHEJ1 nonhomologous end-joining factor 1
NHP2 NHP2 ribonucleoprotein
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NIN ninein (GSK3B interacting protein)
NIPAL4 NIPA-like domain containing 4
NIPBL Nipped-B homolog (Drosophila)
NKX2-1 NK2 homeobox 1
NKX2-5 NK2 homeobox 5
NLRP1 NLR family, pyrin domain containing 1
NLRP12 NLR family, pyrin domain containing 12
NLRP3 NLR family, pyrin domain containing 3
NME8 NME/NM23 family member 8
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOG noggin
NOP10 NOP10 ribonucleoprotein
NOP56 NOP56 ribonucleoprotein
NOTCH1 notch 1
NOTCH2 notch 2
NOTCH3 notch 3
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPR2 natriuretic peptide receptor 2
NR2E3 nuclear receptor subfamily 2, group E, member 3
NR5A1 nuclear receptor subfamily 5, group A, member 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRL neural retina leucine zipper
NRXN1 neurexin 1
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
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NUBPL nucleotide binding protein-like
OBSL1 obscurin-like 1
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
OPTN optineurin
ORAI1 ORAI calcium release-activated calcium modulator 1
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
OTX2 orthodenticle homeobox 2
P2RY12 purinergic receptor P2Y, G-protein coupled, 12
P3H1 prolyl 3-hydroxylase 1
PABPN1 poly(A) binding protein, nuclear 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAH phenylalanine hydroxylase
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PALB2 partner and localizer of BRCA2
PANK2 pantothenate kinase 2
PARK7 parkinson protein 7
PAX1 paired box 1
PAX2 paired box 2
PAX3 paired box 3
PAX6 paired box 6
PAX8 paired box 8
PAX9 paired box 9
PCDH15 protocadherin-related 15
PCNA proliferating cell nuclear antigen
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE11A phosphodiesterase 11A
PDE4D phosphodiesterase 4D, cAMP-specific
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDE8B phosphodiesterase 8B
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHX pyruvate dehydrogenase complex, component X
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
PDZD7 PDZ domain containing 7
PEPD peptidase D
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
PGAP2 post-GPI attachment to proteins 2
PGAP3 post-GPI attachment to proteins 3
PGM1 phosphoglucomutase 1
PGM3 phosphoglucomutase 3
PHC1 polyhomeotic homolog 1 (Drosophila)
PHEX phosphate regulating endopeptidase homolog, X-linked
PHF21A PHD finger protein 21A
PHF6 PHD finger protein 6
PHF8 PHD finger protein 8
PHGDH phosphoglycerate dehydrogenase
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
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PITX1 paired-like homeodomain 1
PITX2 paired-like homeodomain 2
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PKP1 plakophilin 1
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLAU plasminogen activator, urokinase
PLCB4 phospholipase C, beta 4
PLCD1 phospholipase C, delta 1
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLEC plectin
PLG plasminogen
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PLP1 proteolipid protein 1
PMM2 phosphomannomutase 2
PNKD paroxysmal nonkinesigenic dyskinesia
PNKP polynucleotide kinase 3'-phosphatase
PNP purine nucleoside phosphorylase
PNPLA1 patatin-like phospholipase domain containing 1
PNPLA6 patatin-like phospholipase domain containing 6
PNPO pyridoxamine 5'-phosphate oxidase
POC1A POC1 centriolar protein A
POF1B premature ovarian failure, 1B
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLE polymerase (DNA directed), epsilon, catalytic subunit
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POLH polymerase (DNA directed), eta
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
POR P450 (cytochrome) oxidoreductase
PORCN porcupine homolog (Drosophila)
POU1F1 POU class 1 homeobox 1
PPARG peroxisome proliferator-activated receptor gamma
PPIB peptidylprolyl isomerase B (cyclophilin B)
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PPT1 palmitoyl-protein thioesterase 1
PQBP1 polyglutamine binding protein 1
PRCD progressive rod-cone degeneration
PRDM16 PR domain containing 16
PRDM5 PR domain containing 5
PREPL prolyl endopeptidase-like
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCD protein kinase C, delta
PRKCG protein kinase C, gamma
PRNP prion protein
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PROM1 prominin 1
PROP1 PROP paired-like homeobox 1
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF4 pre-mRNA processing factor 4
PRPF6 pre-mRNA processing factor 6
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRRT2 proline-rich transmembrane protein 2
PRRX1 paired related homeobox 1
PRTN3 proteinase 3
PSAT1 phosphoserine aminotransferase 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PSMC3IP PSMC3 interacting protein
PTCH1 patched 1
PTCH2 patched 2
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTF1A pancreas specific transcription factor, 1a
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN14 protein tyrosine phosphatase, non-receptor type 14
PTPN2 protein tyrosine phosphatase, non-receptor type 2
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPRF protein tyrosine phosphatase, receptor type, F
PTS 6-pyruvoyltetrahydropterin synthase
PUF60 poly-U binding splicing factor 60KDa
PUS1 pseudouridylate synthase 1
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PVRL4 poliovirus receptor-related 4
PXDN peroxidasin
PYCR1 pyrroline-5-carboxylate reductase 1
QARS glutaminyl-tRNA synthetase
QDPR quinoid dihydropteridine reductase
RAB18 RAB18, member RAS oncogene family
RAB23 RAB23, member RAS oncogene family
RAB39B RAB39B, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAB40AL RAB40A, member RAS oncogene family-like
RAD21 RAD21 homolog (S. pombe)
RAD50 RAD50 homolog (S. cerevisiae)
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RAI1 retinoic acid induced 1
RAPSN receptor-associated protein of the synapse
RARB retinoic acid receptor, beta
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RASGRP2 RAS guanyl releasing protein 2 (calcium and DAG-regulated)
RAX retina and anterior neural fold homeobox
RB1 retinoblastoma 1
RBBP8 retinoblastoma binding protein 8
RBM10 RNA binding motif protein 10
RBM28 RNA binding motif protein 28
RBM8A RNA binding motif protein 8A
RBP3 retinol binding protein 3, interstitial
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RD3 retinal degeneration 3
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RECQL4 RecQ protein-like 4
RELN reelin
REN renin
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RFX5 regulatory factor X, 5 (influences HLA class II expression)
RFXANK regulatory factor X-associated ankyrin-containing protein
RFXAP regulatory factor X-associated protein
RGR retinal G protein coupled receptor
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
RHO rhodopsin
RIN2 Ras and Rab interactor 2
RIPK4 receptor-interacting serine-threonine kinase 4
RIT1 Ras-like without CAAX 1
RLBP1 retinaldehyde binding protein 1
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
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
RNF135 ring finger protein 135
RNF168 ring finger protein 168, E3 ubiquitin protein ligase
RNF216 ring finger protein 216
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROGDI rogdi homolog (Drosophila)
ROM1 retinal outer segment membrane protein 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP2 retinitis pigmentosa 2 (X-linked recessive)
RP9 retinitis pigmentosa 9 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RPL11 ribosomal protein L11
RPL15 ribosomal protein L15
RPL21 ribosomal protein L21
RPL26 ribosomal protein L26
RPL35A ribosomal protein L35a
RPL5 ribosomal protein L5
RPS10 ribosomal protein S10
RPS17 ribosomal protein S17
RPS19 ribosomal protein S19
RPS24 ribosomal protein S24
RPS26 ribosomal protein S26
RPS29 ribosomal protein S29
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RPS7 ribosomal protein S7
RSPH1 radial spoke head 1 homolog (Chlamydomonas)
RSPH4A radial spoke head 4 homolog A (Chlamydomonas)
RSPH9 radial spoke head 9 homolog (Chlamydomonas)
RTEL1 regulator of telomere elongation helicase 1
RTTN rotatin
RUNX1 runt-related transcription factor 1
RUNX2 runt-related transcription factor 2
RYR1 ryanodine receptor 1 (skeletal)
SAG S-antigen; retina and pineal gland (arrestin)
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SAMD9 sterile alpha motif domain containing 9
SAMHD1 SAM domain and HD domain 1
SAT1 spermidine/spermine N1-acetyltransferase 1
SATB2 SATB homeobox 2
SBDS Shwachman-Bodian-Diamond syndrome
SC5D sterol-C5-desaturase
SCARB2 scavenger receptor class B, member 2
SCARF2 scavenger receptor class F, member 2
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN4A sodium channel, voltage gated, type IV 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
SCP2 sterol carrier protein 2
SDCCAG8 serologically defined colon cancer antigen 8
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
SEC23A Sec23 homolog A (S. cerevisiae)
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
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
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SEPT9 septin 9
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETBP1 SET binding protein 1
SETD5 SET domain containing 5
SF3B4 splicing factor 3b, subunit 4, 49kDa
SGSH N-sulfoglucosamine sulfohydrolase
SH2B1 SH2B adaptor protein 1
SH2D1A SH2 domain containing 1A
SH3BP2 SH3-domain binding protein 2
SH3PXD2B SH3 and PX domains 2B
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHH sonic hedgehog
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SHOX short stature homeobox
SIL1 SIL1 nucleotide exchange factor
SIM1 single-minded family bHLH transcription factor 1
SIX1 SIX homeobox 1
SIX3 SIX homeobox 3
SIX5 SIX homeobox 5
SIX6 SIX homeobox 6
SKI SKI proto-oncogene
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC38A8 solute carrier family 38, member 8
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC39A4 solute carrier family 39 (zinc transporter), member 4
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
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC7A14 solute carrier family 7, member 14
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SLURP1 secreted LY6/PLAUR domain containing 1
SLX4 SLX4 structure-specific endonuclease subunit
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
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
SMOC1 SPARC related modular calcium binding 1
SMOC2 SPARC related modular calcium binding 2
SMS spermine synthase
SNAI2 snail family zinc finger 2
SNAP29 synaptosomal-associated protein, 29kDa
SNIP1 Smad nuclear interacting protein 1
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SNRPE small nuclear ribonucleoprotein polypeptide E
SNRPN small nuclear ribonucleoprotein polypeptide N
SNX10 sorting nexin 10
SNX3 sorting nexin 3
SOBP sine oculis binding protein homolog (Drosophila)
SOS1 son of sevenless homolog 1 (Drosophila)
SOST sclerostin
SOX10 SRY (sex determining region Y)-box 10
SOX11 SRY (sex determining region Y)-box 11
SOX18 SRY (sex determining region Y)-box 18
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SOX9 SRY (sex determining region Y)-box 9
SP110 SP110 nuclear body protein
SP7 Sp7 transcription factor
SPAG1 sperm associated antigen 1
SPATA7 spermatogenesis associated 7
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
SPEG SPEG complex locus
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPINK5 serine peptidase inhibitor, Kazal type 5
SPINT2 serine peptidase inhibitor, Kunitz type, 2
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
SPRED1 sprouty-related, EVH1 domain containing 1
SPRY4 sprouty homolog 4 (Drosophila)
SPTAN1 spectrin, alpha, non-erythrocytic 1
SPTBN2 spectrin, beta, non-erythrocytic 2
SRCAP Snf2-related CREBBP activator protein
SRD5A3 steroid 5 alpha-reductase 3
SSTR5 somatostatin receptor 5
ST14 suppression of tumorigenicity 14 (colon carcinoma)
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STAC3 SH3 and cysteine rich domain 3
STAMBP STAM binding protein
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT4 signal transducer and activator of transcription 4
STIL SCL/TAL1 interrupting locus
STIM1 stromal interaction molecule 1
STK11 serine/threonine kinase 11
STRA6 stimulated by retinoic acid 6
STRADA STE20-related kinase adaptor alpha
STS steroid sulfatase (microsomal), isozyme S
STT3A STT3A, subunit of the oligosaccharyltransferase complex (catalytic)
STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUFU suppressor of fused homolog (Drosophila)
SULF1 sulfatase 1
SUMF1 sulfatase modifying factor 1
SUMO1 small ubiquitin-like modifier 1
SUOX sulfite oxidase
SYN1 synapsin I
SYNGAP1 synaptic Ras GTPase activating protein 1
SYNJ1 synaptojanin 1
SZT2 seizure threshold 2 homolog (mouse)
TAC3 tachykinin 3
TACR3 tachykinin receptor 3
TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
TAPBP TAP binding protein (tapasin)
TAT tyrosine aminotransferase
TAZ tafazzin
TBC1D20 TBC1 domain family, member 20
TBC1D24 TBC1 domain family, member 24
TBC1D7 TBC1 domain family, member 7
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX15 T-box 15
TBX2 T-box 2
TBX21 T-box 21
TBX22 T-box 22
TBX3 T-box 3
TBX4 T-box 4
TBX6 T-box 6
TBXAS1 thromboxane A synthase 1 (platelet)
TCF12 transcription factor 12
TCF3 transcription factor 3
TCF4 transcription factor 4
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCN2 transcobalamin II
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TECPR2 tectonin beta-propeller repeat containing 2
TEK TEK tyrosine kinase, endothelial
TENM3 teneurin transmembrane protein 3
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TG thyroglobulin
TGFA transforming growth factor, alpha
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFB3 transforming growth factor, beta 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGIF1 TGFB-induced factor homeobox 1
TGM1 transglutaminase 1
TGM6 transglutaminase 6
TH tyrosine hydroxylase
THAP1 THAP domain containing, apoptosis associated protein 1
THOC6 THO complex 6
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TK2 thymidine kinase 2, mitochondrial
TLR4 toll-like receptor 4
TMCO1 transmembrane and coiled-coil domains 1
TMEM138 transmembrane protein 138
TMEM165 transmembrane protein 165
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TNXB tenascin XB
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TOR1A torsin family 1, member A (torsin A)
TP53 tumor protein p53
TP63 tumor protein p63
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TPO thyroid peroxidase
TRAF3IP2 TRAF3 interacting protein 2
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRAPPC11 trafficking protein particle complex 11
TRAPPC9 trafficking protein particle complex 9
TREX1 three prime repair exonuclease 1
TRHR thyrotropin-releasing hormone receptor
TRIM32 tripartite motif containing 32
TRIM37 tripartite motif containing 37
TRIP11 thyroid hormone receptor interactor 11
TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae)
TRPS1 trichorhinophalangeal syndrome I
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSEN34 TSEN34 tRNA splicing endonuclease subunit
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TSHB thyroid stimulating hormone, beta
TSHR thyroid stimulating hormone receptor
TSPYL1 TSPY-like 1
TTC37 tetratricopeptide repeat domain 37
TTC8 tetratricopeptide repeat domain 8
TTI2 TELO2 interacting protein 2
TTN titin
TTPA tocopherol (alpha) transfer protein
TUB tubby bipartite transcription factor
TUBA1A tubulin, alpha 1a
TUBA8 tubulin, alpha 8
TUBB tubulin, beta class I
TUBB2B tubulin, beta 2B class IIb
TUBB3 tubulin, beta 3 class III
TUBB4A tubulin, beta 4A class IVa
TUBG1 tubulin, gamma 1
TUBGCP6 tubulin, gamma complex associated protein 6
TUFM Tu translation elongation factor, mitochondrial
TULP1 tubby like protein 1
TWIST1 twist family bHLH transcription factor 1
TWIST2 twist family bHLH transcription factor 2
TYK2 tyrosine kinase 2
UBA1 ubiquitin-like modifier activating enzyme 1
UBB ubiquitin B
UBE2A ubiquitin-conjugating enzyme E2A
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
UMPS uridine monophosphate synthetase
UNC119 unc-119 homolog (C. elegans)
UNG uracil-DNA glycosylase
UPB1 ureidopropionase, beta
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
USP9X ubiquitin specific peptidase 9, X-linked
VANGL1 VANGL planar cell polarity protein 1
VARS2 valyl-tRNA synthetase 2, mitochondrial
VAX1 ventral anterior homeobox 1
VCP valosin containing protein
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
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
VSX1 visual system homeobox 1
VSX2 visual system homeobox 2
VTI1A vesicle transport through interaction with t-SNAREs 1A
VWF von Willebrand factor
WAS Wiskott-Aldrich syndrome
WDPCP WD repeat containing planar cell polarity effector
WDR11 WD repeat domain 11
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WDR62 WD repeat domain 62
WDR72 WD repeat domain 72
WDR81 WD repeat domain 81
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WIPF1 WAS/WASL interacting protein family, member 1
WNK1 WNK lysine deficient protein kinase 1
WNT10A wingless-type MMTV integration site family, member 10A
WNT3 wingless-type MMTV integration site family, member 3
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
WRAP53 WD repeat containing, antisense to TP53
WRN Werner syndrome, RecQ helicase-like
WT1 Wilms tumor 1
WWOX WW domain containing oxidoreductase
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
XYLT1 xylosyltransferase I
YAP1 Yes-associated protein 1
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZBTB16 zinc finger and BTB domain containing 16
ZBTB18 zinc finger and BTB domain containing 18
ZBTB20 zinc finger and BTB domain containing 20
ZBTB24 zinc finger and BTB domain containing 24
ZC4H2 zinc finger, C4H2 domain containing
ZDHHC15 zinc finger, DHHC-type containing 15
ZDHHC9 zinc finger, DHHC-type containing 9
ZEB2 zinc finger E-box binding homeobox 2
ZFPM2 zinc finger protein, FOG family member 2
ZIC2 Zic family member 2
ZMPSTE24 zinc metallopeptidase STE24
ZMYND10 zinc finger, MYND-type containing 10
ZNF335 zinc finger protein 335
ZNF423 zinc finger protein 423
ZNF469 zinc finger protein 469
ZNF513 zinc finger protein 513
ZNF592 zinc finger protein 592
ZSWIM6 zinc finger, SWIM-type containing 6