abnormality of metabolism/homeostasis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001939
Similar Terms
Downloads & Tools

Genes

1457 genes associated with the abnormality of metabolism/homeostasis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
AARS2 alanyl-tRNA synthetase 2, mitochondrial
AASS aminoadipate-semialdehyde synthase
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
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
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
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8
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, C-4 to C-12 straight chain
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACADSB acyl-CoA dehydrogenase, short/branched chain
ACADVL acyl-CoA dehydrogenase, very long chain
ACAT1 acetyl-CoA acetyltransferase 1
ACAT2 acetyl-CoA acetyltransferase 2
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACSF3 acyl-CoA synthetase family member 3
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
ACTN4 actinin, alpha 4
ACVRL1 activin A receptor type II-like 1
ADA adenosine deaminase
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADCK3 aarF domain containing kinase 3
ADCK4 aarF domain containing kinase 4
ADK adenosine kinase
AFF1 AF4/FMR2 family, member 1
AFF2 AF4/FMR2 family, member 2
AGA aspartylglucosaminidase
AGGF1 angiogenic factor with G patch and FHA domains 1
AGK acylglycerol kinase
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGXT alanine-glyoxylate aminotransferase
AHCY adenosylhomocysteinase
AICDA activation-induced cytidine deaminase
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIP aryl hydrocarbon receptor interacting protein
AIRE autoimmune regulator
AK2 adenylate kinase 2
AKR1D1 aldo-keto reductase family 1, member D1
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT2 v-akt murine thymoma viral oncogene homolog 2
ALAD aminolevulinate dehydratase
ALAS2 5'-aminolevulinate synthase 2
ALDH1A1 aldehyde dehydrogenase 1 family, member A1
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
ALDH4A1 aldehyde dehydrogenase 4 family, member A1
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ALDOB aldolase B, 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
ALG6 ALG6, alpha-1,3-glucosyltransferase
ALG8 ALG8, alpha-1,3-glucosyltransferase
ALMS1 Alstrom syndrome protein 1
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALPL alkaline phosphatase, liver/bone/kidney
AMACR alpha-methylacyl-CoA racemase
AMELX amelogenin, X-linked
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
AMN amnion associated transmembrane protein
AMT aminomethyltransferase
ANGPTL3 angiopoietin-like 3
ANK1 ankyrin 1, erythrocytic
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD55 ankyrin repeat domain 55
ANO5 anoctamin 5
ANTXR1 anthrax toxin receptor 1
ANTXR2 anthrax toxin receptor 2
AP2S1 adaptor-related protein complex 2, sigma 1 subunit
APC adenomatous polyposis coli
APOA1 apolipoprotein A-I
APOA5 apolipoprotein A-V
APOB apolipoprotein B
APOC2 apolipoprotein C-II
APOC3 apolipoprotein C-III
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
APRT adenine phosphoribosyltransferase
APTX aprataxin
AQP2 aquaporin 2 (collecting duct)
AR androgen receptor
ARAF A-Raf proto-oncogene, serine/threonine kinase
ARG1 arginase 1
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
ARMC5 armadillo repeat containing 5
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARSB arylsulfatase B
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASCL1 achaete-scute family bHLH transcription factor 1
ASL argininosuccinate lyase
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASS1 argininosuccinate synthase 1
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATM ATM serine/threonine kinase
ATN1 atrophin 1
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
ATRX alpha thalassemia/mental retardation syndrome X-linked
AUH AU RNA binding protein/enoyl-CoA hydratase
AVP arginine vasopressin
AVPR2 arginine vasopressin receptor 2
AXIN1 axin 1
B2M beta-2-microglobulin
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BAAT bile acid CoA:amino acid N-acyltransferase
BAG3 BCL2-associated athanogene 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
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
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide
BCKDK branched chain ketoacid dehydrogenase kinase
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)
BCL2 B-cell CLL/lymphoma 2
BCL6 B-cell CLL/lymphoma 6
BCO1 beta-carotene oxygenase 1
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BDNF brain-derived neurotrophic factor
BEST1 bestrophin 1
BIRC3 baculoviral IAP repeat containing 3
BLK BLK proto-oncogene, Src family tyrosine kinase
BLM Bloom syndrome, RecQ helicase-like
BLNK B-cell linker
BMP15 bone morphogenetic protein 15
BMPR1A bone morphogenetic protein receptor, type IA
BOLA3 bolA family member 3
BPGM 2,3-bisphosphoglycerate mutase
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BSND barttin CLCNK-type chloride channel accessory beta subunit
BTD biotinidase
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
C10ORF2 chromosome 10 open reading frame 2
C12ORF65 chromosome 12 open reading frame 65
C19ORF12 chromosome 19 open reading frame 12
C2ORF71 chromosome 2 open reading frame 71
C4A complement component 4A (Rodgers blood group)
C6 complement component 6
C8ORF37 chromosome 8 open reading frame 37
CA12 carbonic anhydrase XII
CA2 carbonic anhydrase II
CA4 carbonic anhydrase IV
CA5A carbonic anhydrase VA, mitochondrial
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CAMKMT calmodulin-lysine N-methyltransferase
CAMTA1 calmodulin binding transcription activator 1
CAPN3 calpain 3, (p94)
CARD11 caspase recruitment domain family, member 11
CARD9 caspase recruitment domain family, member 9
CASP10 caspase 10, apoptosis-related cysteine peptidase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CAT catalase
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CBS cystathionine-beta-synthase
CCBE1 collagen and calcium binding EGF domains 1
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CD19 CD19 molecule
CD247 CD247 molecule
CD27 CD27 molecule
CD2AP CD2-associated protein
CD320 CD320 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CD59 CD59 molecule, complement regulatory protein
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CD81 CD81 molecule
CDAN1 codanin 1
CDC73 cell division cycle 73
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDHR1 cadherin-related family member 1
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CDSN corneodesmosin
CEACAM5 carcinoembryonic antigen-related cell adhesion molecule 5
CECR1 cat eye syndrome chromosome region, candidate 1
CEL carboxyl ester lipase
CEP290 centrosomal protein 290kDa
CEP57 centrosomal protein 57kDa
CERKL ceramide kinase-like
CES1 carboxylesterase 1
CETP cholesteryl ester transfer protein, plasma
CFC1 cripto, FRL-1, cryptic family 1
CFH complement factor H
CFHR5 complement factor H-related 5
CFI complement factor I
CFP complement factor properdin
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD7 chromodomain helicase DNA binding protein 7
CHEK2 checkpoint kinase 2
CHKB choline kinase beta
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
CIDEC cell death-inducing DFFA-like effector c
CIITA class II, major histocompatibility complex, transactivator
CISD2 CDGSH iron sulfur domain 2
CLCF1 cardiotrophin-like cytokine factor 1
CLCN5 chloride channel, voltage-sensitive 5
CLCN7 chloride channel, voltage-sensitive 7
CLCNKA chloride channel, voltage-sensitive Ka
CLCNKB chloride channel, voltage-sensitive Kb
CLDN16 claudin 16
CLDN19 claudin 19
CLEC7A C-type lectin domain family 7, member A
CLIP2 CAP-GLY domain containing linker protein 2
CLN3 ceroid-lipofuscinosis, neuronal 3
CLN5 ceroid-lipofuscinosis, neuronal 5
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CLRN1 clarin 1
CNBP CCHC-type zinc finger, nucleic acid binding protein
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB1 cyclic nucleotide gated channel beta 1
COA5 cytochrome c oxidase assembly factor 5
COG1 component of oligomeric golgi complex 1
COG4 component of oligomeric golgi complex 4
COG5 component of oligomeric golgi complex 5
COG6 component of oligomeric golgi complex 6
COG8 component of oligomeric golgi complex 8
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL4A1 collagen, type IV, alpha 1
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4 collagen, type IV, alpha 4
COL4A5 collagen, type IV, alpha 5
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COL7A1 collagen, type VII, alpha 1
COL8A2 collagen, type VIII, alpha 2
COL9A3 collagen, type IX, alpha 3
COMT catechol-O-methyltransferase
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COQ6 coenzyme Q6 monooxygenase
COQ9 coenzyme Q9
COX1
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX2
COX20 COX20 cytochrome c oxidase assembly factor
COX3
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CP ceruloplasmin (ferroxidase)
CPN1 carboxypeptidase N, polypeptide 1
CPOX coproporphyrinogen oxidase
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT2 carnitine palmitoyltransferase 2
CR2 complement component (3d/Epstein Barr virus) receptor 2
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRH corticotropin releasing hormone
CRLF1 cytokine receptor-like factor 1
CRX cone-rod homeobox
CRYAB crystallin, alpha B
CSF3R colony stimulating factor 3 receptor (granulocyte)
CST3 cystatin C
CTC1 CTS telomere maintenance complex component 1
CTH cystathionine gamma-lyase
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
CTSD cathepsin D
CUBN cubilin (intrinsic factor-cobalamin receptor)
CUL3 cullin 3
CXCR4 chemokine (C-X-C motif) receptor 4
CYB5A cytochrome b5 type A (microsomal)
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
CYC1 cytochrome c-1
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
D2HGDH D-2-hydroxyglutarate dehydrogenase
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DAZ1 deleted in azoospermia 1
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DBI diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)
DBT dihydrolipoamide branched chain transacylase E2
DCAF17 DDB1 and CUL4 associated factor 17
DCK deoxycytidine kinase
DCLRE1C DNA cross-link repair 1C
DCTN1 dynactin 1
DCTN4 dynactin 4 (p62)
DDB1 damage-specific DNA binding protein 1, 127kDa
DDB2 damage-specific DNA binding protein 2, 48kDa
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DGAT1 diacylglycerol O-acyltransferase 1
DGKE diacylglycerol kinase, epsilon 64kDa
DGUOK deoxyguanosine kinase
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
DHTKD1 dehydrogenase E1 and transketolase domain containing 1
DICER1 dicer 1, ribonuclease type III
DIO1 deiodinase, iodothyronine, type I
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DKC1 dyskeratosis congenita 1, dyskerin
DLAT dihydrolipoamide S-acetyltransferase
DLD dihydrolipoamide dehydrogenase
DMD dystrophin
DMGDH dimethylglycine dehydrogenase
DMP1 dentin matrix acidic phosphoprotein 1
DNA2 DNA replication helicase/nuclease 2
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DNASE1L3 deoxyribonuclease I-like 3
DNM1L dynamin 1-like
DNM2 dynamin 2
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
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
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3
DPYD dihydropyrimidine dehydrogenase
DPYS dihydropyrimidinase
DSG1 desmoglein 1
DST dystonin
DUOXA2 dual oxidase maturation factor 2
DUX4 double homeobox 4
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYRK1B dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B
DYSF dysferlin
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
EBP emopamil binding protein (sterol isomerase)
EDA ectodysplasin A
EDA2R ectodysplasin A2 receptor
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EDN3 endothelin 3
EGF epidermal growth factor
EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELAC2 elaC ribonuclease Z 2
ELANE elastase, neutrophil expressed
ELN elastin
EMD emerin
ENG endoglin
ENO3 enolase 3 (beta, muscle)
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
EPOR erythropoietin receptor
EPX eosinophil peroxidase
ERBB3 erb-b2 receptor tyrosine kinase 3
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
ERCC8 excision repair cross-complementation group 8
ERMAP erythroblast membrane-associated protein (Scianna blood group)
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
ETHE1 ethylmalonic encephalopathy 1
ETV1 ets variant 1
EYS eyes shut homolog (Drosophila)
F12 coagulation factor XII (Hageman factor)
F5 coagulation factor V (proaccelerin, labile factor)
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAM111A family with sequence similarity 111, member A
FAM111B family with sequence similarity 111, 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
FAN1 FANCD2/FANCI-associated nuclease 1
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
FASLG Fas ligand (TNF superfamily, member 6)
FASTKD2 FAST kinase domains 2
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FBP1 fructose-1,6-bisphosphatase 1
FBXL4 F-box and leucine-rich repeat protein 4
FECH ferrochelatase
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGF23 fibroblast growth factor 23
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FGG fibrinogen gamma chain
FH fumarate hydratase
FHL1 four and a half LIM domains 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP10 FK506 binding protein 10, 65 kDa
FKRP fukutin related protein
FKTN fukutin
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FLNC filamin C, gamma
FLT4 fms-related tyrosine kinase 4
FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2
FMO3 flavin containing monooxygenase 3
FMR1 fragile X mental retardation 1
FN1 fibronectin 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXC2 forkhead box C2
FOXG1 forkhead box G1
FOXN1 forkhead box N1
FOXO4 forkhead box O4
FOXP1 forkhead box P1
FOXP3 forkhead box P3
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FRG1 FSHD region gene 1
FSCN2 fascin actin-bundling protein 2, retinal
FSHB follicle stimulating hormone, beta polypeptide
FSHR follicle stimulating hormone receptor
FTCD formimidoyltransferase cyclodeaminase
FTH1 ferritin, heavy polypeptide 1
FTL ferritin, light polypeptide
FUCA1 fucosidase, alpha-L- 1, tissue
FUCA2 fucosidase, alpha-L- 2, plasma
FUZ fuzzy planar cell polarity protein
FXN frataxin
FXYD2 FXYD domain containing ion transport regulator 2
G6PC glucose-6-phosphatase, catalytic subunit
G6PD glucose-6-phosphate dehydrogenase
GAA glucosidase, alpha; acid
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
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GATA3 GATA binding protein 3
GATA6 GATA binding protein 6
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCDH glutaryl-CoA dehydrogenase
GCH1 GTP cyclohydrolase 1
GCK glucokinase (hexokinase 4)
GCLC glutamate-cysteine ligase, catalytic subunit
GCM2 glial cells missing homolog 2 (Drosophila)
GCSH glycine cleavage system protein H (aminomethyl carrier)
GDF1 growth differentiation factor 1
GDF2 growth differentiation factor 2
GDNF glial cell derived neurotrophic factor
GFER growth factor, augmenter of liver regeneration
GFM1 G elongation factor, mitochondrial 1
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GH1 growth hormone 1
GHR growth hormone receptor
GIF gastric intrinsic factor (vitamin B synthesis)
GIP gastric inhibitory polypeptide
GJA1 gap junction protein, alpha 1, 43kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GK glycerol kinase
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GLDC glycine dehydrogenase (decarboxylating)
GLE1 GLE1 RNA export mediator
GLI3 GLI family zinc finger 3
GLIS3 GLIS family zinc finger 3
GLMN glomulin, FKBP associated protein
GLRX5 glutaredoxin 5
GLUD1 glutamate dehydrogenase 1
GLUL glutamate-ammonia ligase
GLYCTK glycerate kinase
GM2A GM2 ganglioside activator
GMPPB GDP-mannose pyrophosphorylase B
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GNAS-AS1 GNAS antisense RNA 1
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNMT glycine N-methyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GNRHR gonadotropin-releasing hormone receptor
GNS glucosamine (N-acetyl)-6-sulfatase
GOPC golgi-associated PDZ and coiled-coil motif containing
GOSR2 golgi SNAP receptor complex member 2
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GPC6 glypican 6
GPI glucose-6-phosphate isomerase
GPX1 glutathione peroxidase 1
GRHPR glyoxylate reductase/hydroxypyruvate reductase
GSN gelsolin
GSR glutathione reductase
GSS glutathione synthetase
GTF2H5 general transcription factor IIH, polypeptide 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCA1B guanylate cyclase activator 1B (retina)
GUCY2C guanylate cyclase 2C
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
GUSB glucuronidase, beta
GYS2 glycogen synthase 2 (liver)
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HADH hydroxyacyl-CoA dehydrogenase
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HAMP hepcidin antimicrobial peptide
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HBD hemoglobin, delta
HBE1 hemoglobin, epsilon 1
HBEGF heparin-binding EGF-like growth factor
HBG1 hemoglobin, gamma A
HBG2 hemoglobin, gamma G
HBQ1 hemoglobin, theta 1
HCCS holocytochrome c synthase
HCFC1 host cell factor C1
HCRT hypocretin (orexin) neuropeptide precursor
HDAC8 histone deacetylase 8
HESX1 HESX homeobox 1
HEXA hexosaminidase A (alpha polypeptide)
HEXB hexosaminidase B (beta polypeptide)
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HGD homogentisate 1,2-dioxygenase
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HIBCH 3-hydroxyisobutyryl-CoA hydrolase
HINT1 histidine triad nucleotide binding protein 1
HIRA histone cell cycle regulator
HK1 hexokinase 1
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-DRA major histocompatibility complex, class II, DR alpha
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HMBS hydroxymethylbilane synthase
HMGA1 high mobility group AT-hook 1
HMGA2 high mobility group AT-hook 2
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase
HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
HMOX1 heme oxygenase 1
HNF1A HNF1 homeobox A
HNF1B HNF1 homeobox B
HNF4A hepatocyte nuclear factor 4, alpha
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like
HOGA1 4-hydroxy-2-oxoglutarate aldolase 1
HPD 4-hydroxyphenylpyruvate dioxygenase
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HPRT1 hypoxanthine phosphoribosyltransferase 1
HR hair growth associated
HRAS Harvey rat sarcoma viral oncogene homolog
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
HSPG2 heparan sulfate proteoglycan 2
HYAL1 hyaluronoglucosaminidase 1
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
ICOS inducible T-cell co-stimulator
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
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
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IFT80 intraflagellar transport 80
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2R insulin-like growth factor 2 receptor
IGHM immunoglobulin heavy constant mu
IGLL1 immunoglobulin lambda-like polypeptide 1
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL12B interleukin 12B
IL12RB2 interleukin 12 receptor, beta 2
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
IL1RN interleukin 1 receptor antagonist
IL21 interleukin 21
IL23R interleukin 23 receptor
IL2RA interleukin 2 receptor, alpha
IL2RB interleukin 2 receptor, beta
IL2RG interleukin 2 receptor, gamma
IL31RA interleukin 31 receptor A
IL36RN interleukin 36 receptor antagonist
IL6 interleukin 6
IL7R interleukin 7 receptor
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INF2 inverted formin, FH2 and WH2 domain containing
INPPL1 inositol polyphosphate phosphatase-like 1
INS insulin
INSR insulin receptor
INVS inversin
IRF4 interferon regulatory factor 4
IRF8 interferon regulatory factor 8
ISCU iron-sulfur cluster assembly enzyme
ISPD isoprenoid synthase domain containing
ITGA6 integrin, alpha 6
ITGA7 integrin, alpha 7
ITGA8 integrin, alpha 8
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB4 integrin, beta 4
ITK IL2-inducible T-cell kinase
ITM2B integral membrane protein 2B
IVD isovaleryl-CoA dehydrogenase
JAG1 jagged 1
JAK2 Janus kinase 2
JAK3 Janus kinase 3
KAT6B K(lysine) acetyltransferase 6B
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KCTD1 potassium channel tetramerization domain containing 1
KCTD7 potassium channel tetramerization domain containing 7
KDM6A lysine (K)-specific demethylase 6A
KIF11 kinesin family member 11
KIF1B kinesin family member 1B
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KIZ kizuna centrosomal protein
KL klotho
KLF1 Kruppel-like factor 1 (erythroid)
KLF11 Kruppel-like factor 11
KLHDC8B kelch domain containing 8B
KLHL3 kelch-like family member 3
KLHL7 kelch-like family member 7
KMT2A lysine (K)-specific methyltransferase 2A
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT1 keratin 1, type II
KRT14 keratin 14, type I
KRT18 keratin 18, type I
KRT2 keratin 2, type II
KRT4 keratin 4, type II
KRT5 keratin 5, type II
KRT8 keratin 8, type II
KRT81 keratin 81, type II
KRT83 keratin 83, type II
KRT86 keratin 86, type II
KRT9 keratin 9, type I
L2HGDH L-2-hydroxyglutarate dehydrogenase
LAMA2 laminin, alpha 2
LAMA3 laminin, alpha 3
LAMB2 laminin, beta 2 (laminin S)
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LAMP2 lysosomal-associated membrane protein 2
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LARGE like-glycosyltransferase
LBR lamin B receptor
LCAT lecithin-cholesterol acyltransferase
LCT lactase
LDB3 LIM domain binding 3
LDHA lactate dehydrogenase A
LDLRAP1 low density lipoprotein receptor adaptor protein 1
LEMD3 LEM domain containing 3
LHB luteinizing hormone beta polypeptide
LHX1 LIM homeobox 1
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
LIPA lipase A, lysosomal acid, cholesterol esterase
LIPE lipase, hormone-sensitive
LIPN lipase, family member N
LMBRD1 LMBR1 domain containing 1
LMF1 lipase maturation factor 1
LMNA lamin A/C
LMNB1 lamin B1
LMNB2 lamin B2
LMX1B LIM homeobox transcription factor 1, beta
LPA lipoprotein, Lp(a)
LPIN1 lipin 1
LPIN2 lipin 2
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
LRPPRC leucine-rich pentatricopeptide repeat containing
LRRC8A leucine rich repeat containing 8 family, member A
LYRM4 LYR motif containing 4
LYRM7 LYR motif containing 7
LYST lysosomal trafficking regulator
LYZ lysozyme
LZTFL1 leucine zipper transcription factor-like 1
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAGT1 magnesium transporter 1
MAK male germ cell-associated kinase
MALT1 MALT1 paracaspase
MAN2B1 mannosidase, alpha, class 2B, member 1
MANBA mannosidase, beta A, lysosomal
MAOB monoamine oxidase B
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAT1A methionine adenosyltransferase I, alpha
MATR3 matrin 3
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MC4R melanocortin 4 receptor
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MCEE methylmalonyl CoA epimerase
MCF2 MCF.2 cell line derived transforming sequence
MCM6 minichromosome maintenance complex component 6
MCOLN1 mucolipin 1
MCPH1 microcephalin 1
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEFV Mediterranean fever
MEN1 multiple endocrine neoplasia I
MERTK MER proto-oncogene, tyrosine kinase
MET MET proto-oncogene, receptor tyrosine kinase
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGME1 mitochondrial genome maintenance exonuclease 1
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MINPP1 multiple inositol-polyphosphate phosphatase 1
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLLT1 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1
MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3
MLX MLX, MAX dimerization protein
MLYCD malonyl-CoA decarboxylase
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MOGS mannosyl-oligosaccharide glucosidase
MPC1 mitochondrial pyruvate carrier 1
MPI mannose phosphate isomerase
MPL MPL proto-oncogene, thrombopoietin receptor
MPO myeloperoxidase
MPV17 MpV17 mitochondrial inner membrane protein
MRAP melanocortin 2 receptor accessory protein
MRPL3 mitochondrial ribosomal protein L3
MRPL44 mitochondrial ribosomal protein L44
MRPS16 mitochondrial ribosomal protein S16
MRPS22 mitochondrial ribosomal protein S22
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MT-CYB cytochrome b
MT-ND2 MTND2
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TK tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTO1 mitochondrial tRNA translation optimization 1
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MTTP microsomal triglyceride transfer protein
MUC1 mucin 1, cell surface associated
MUT methylmalonyl CoA mutase
MVK mevalonate kinase
MYB v-myb avian myeloblastosis viral oncogene homolog
MYD88 myeloid differentiation primary response 88
MYF6 myogenic factor 6 (herculin)
MYH14 myosin, heavy chain 14, non-muscle
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYH9 myosin, heavy chain 9, non-muscle
MYLK2 myosin light chain kinase 2
MYO1E myosin IE
MYO5A myosin VA (heavy chain 12, myoxin)
MYO5B myosin VB
MYOT myotilin
NAGA N-acetylgalactosaminidase, alpha-
NAGLU N-acetylglucosaminidase, alpha
NAGS N-acetylglutamate synthase
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NBN nibrin
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
ND1
NDN necdin, melanoma antigen (MAGE) family member
NDP Norrie disease (pseudoglioma)
NDRG1 N-myc downstream regulated 1
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NEB nebulin
NEK1 NIMA-related kinase 1
NEK2 NIMA-related kinase 2
NEU1 sialidase 1 (lysosomal sialidase)
NEUROD1 neuronal differentiation 1
NEUROG3 neurogenin 3
NF1 neurofibromin 1
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
NFU1 NFU1 iron-sulfur cluster scaffold
NGF nerve growth factor (beta polypeptide)
NHEJ1 nonhomologous end-joining factor 1
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NHP2 NHP2 ribonucleoprotein
NIPAL4 NIPA-like domain containing 4
NIPBL Nipped-B homolog (Drosophila)
NKX2-1 NK2 homeobox 1
NKX2-5 NK2 homeobox 5
NKX2-6 NK2 homeobox 6
NLRP12 NLR family, pyrin domain containing 12
NLRP3 NLR family, pyrin domain containing 3
NME1 NME/NM23 nucleoside diphosphate kinase 1
NNT nicotinamide nucleotide transhydrogenase
NOD2 nucleotide-binding oligomerization domain containing 2
NOP10 NOP10 ribonucleoprotein
NOTCH2 notch 2
NOTCH3 notch 3
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPHP1 nephronophthisis 1 (juvenile)
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR0B2 nuclear receptor subfamily 0, group B, member 2
NR2E3 nuclear receptor subfamily 2, group E, member 3
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR3C2 nuclear receptor subfamily 3, group C, member 2
NR5A1 nuclear receptor subfamily 5, group A, member 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRL neural retina leucine zipper
NSD1 nuclear receptor binding SET domain protein 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NT5C3A 5'-nucleotidase, cytosolic IIIA
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NUBPL nucleotide binding protein-like
OAT ornithine aminotransferase
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OPLAH 5-oxoprolinase (ATP-hydrolysing)
ORAI1 ORAI calcium release-activated calcium modulator 1
OSMR oncostatin M receptor
OSTM1 osteopetrosis associated transmembrane protein 1
OTC ornithine carbamoyltransferase
OTX2 orthodenticle homeobox 2
OXCT1 3-oxoacid CoA transferase 1
P4HB prolyl 4-hydroxylase, beta polypeptide
PAH phenylalanine hydroxylase
PALB2 partner and localizer of BRCA2
PANK2 pantothenate kinase 2
PAPPA pregnancy-associated plasma protein A, pappalysin 1
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PARK2 parkin RBR E3 ubiquitin protein ligase
PAX2 paired box 2
PAX4 paired box 4
PAX8 paired box 8
PC pyruvate carboxylase
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PCK2 phosphoenolpyruvate carboxykinase 2 (mitochondrial)
PCNT pericentrin
PCSK1 proprotein convertase subtilisin/kexin type 1
PCSK9 proprotein convertase subtilisin/kexin type 9
PDE11A phosphodiesterase 11A
PDE4D phosphodiesterase 4D, cAMP-specific
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDE8B phosphodiesterase 8B
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDGFRL platelet-derived growth factor receptor-like
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHB pyruvate dehydrogenase (lipoamide) beta
PDHX pyruvate dehydrogenase complex, component X
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PDX1 pancreatic and duodenal homeobox 1
PEPD peptidase D
PET100 PET100 homolog (S. cerevisiae)
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PEX7 peroxisomal biogenesis factor 7
PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
PFKM phosphofructokinase, muscle
PGAM2 phosphoglycerate mutase 2 (muscle)
PGAP2 post-GPI attachment to proteins 2
PGAP3 post-GPI attachment to proteins 3
PGD phosphogluconate dehydrogenase
PGK1 phosphoglycerate kinase 1
PGM1 phosphoglucomutase 1
PGR progesterone receptor
PHB prohibitin
PHEX phosphate regulating endopeptidase homolog, X-linked
PHGDH phosphoglycerate dehydrogenase
PHKA1 phosphorylase kinase, alpha 1 (muscle)
PHKA2 phosphorylase kinase, alpha 2 (liver)
PHKB phosphorylase kinase, beta
PHKG2 phosphorylase kinase, gamma 2 (testis)
PHOX2B paired-like homeobox 2b
PHYH phytanoyl-CoA 2-hydroxylase
PI3 peptidase inhibitor 3, skin-derived
PIEZO1 piezo-type mechanosensitive ion channel component 1
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
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
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PKLR pyruvate kinase, liver and RBC
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLAG1 pleiomorphic adenoma gene 1
PLCD1 phospholipase C, delta 1
PLCE1 phospholipase C, epsilon 1
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLEC plectin
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLG plasminogen
PLIN1 perilipin 1
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PMM2 phosphomannomutase 2
PNP purine nucleoside phosphorylase
PNPLA2 patatin-like phospholipase domain containing 2
PNPLA6 patatin-like phospholipase domain containing 6
PNPO pyridoxamine 5'-phosphate oxidase
POC1A POC1 centriolar protein A
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POMC proopiomelanocortin
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PON1 paraoxonase 1
POR P450 (cytochrome) oxidoreductase
POU6F2 POU class 6 homeobox 2
PPARG peroxisome proliferator-activated receptor gamma
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B
PPOX protoporphyrinogen oxidase
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PPT1 palmitoyl-protein thioesterase 1
PRCD progressive rod-cone degeneration
PREPL prolyl endopeptidase-like
PRF1 perforin 1 (pore forming protein)
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCD protein kinase C, delta
PRKCSH protein kinase C substrate 80K-H
PRNP prion protein
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PRODH proline dehydrogenase (oxidase) 1
PROKR2 prokineticin receptor 2
PROM1 prominin 1
PROP1 PROP paired-like homeobox 1
PROS1 protein S (alpha)
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
PRSS1 protease, serine, 1 (trypsin 1)
PRTN3 proteinase 3
PSAP prosaposin
PSAT1 phosphoserine aminotransferase 1
PSEN2 presenilin 2
PSG1 pregnancy specific beta-1-glycoprotein 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PSMC3IP PSMC3 interacting protein
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PTCH2 patched 2
PTEN phosphatase and tensin homolog
PTF1A pancreas specific transcription factor, 1a
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN2 protein tyrosine phosphatase, non-receptor type 2
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPN3 protein tyrosine phosphatase, non-receptor type 3
PTPRO protein tyrosine phosphatase, receptor type, O
PTRF polymerase I and transcript release factor
PTS 6-pyruvoyltetrahydropterin synthase
PUS1 pseudouridylate synthase 1
PYGL phosphorylase, glycogen, liver
PYGM phosphorylase, glycogen, muscle
QDPR quinoid dihydropteridine reductase
RAB27A RAB27A, member RAS oncogene family
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
RANBP2 RAN binding protein 2
RAPSN receptor-associated protein of the synapse
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RB1 retinoblastoma 1
RBCK1 RanBP-type and C3HC4-type zinc finger containing 1
RBM8A RNA binding motif protein 8A
RBP3 retinol binding protein 3, interstitial
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
REG1A regenerating islet-derived 1 alpha
REN renin
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RFT1 RFT1 homolog (S. cerevisiae)
RFX5 regulatory factor X, 5 (influences HLA class II expression)
RFX6 regulatory factor X, 6
RFXANK regulatory factor X-associated ankyrin-containing protein
RFXAP regulatory factor X-associated protein
RGR retinal G protein coupled receptor
RHAG Rh-associated glycoprotein
RHO rhodopsin
RIN2 Ras and Rab interactor 2
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
RNF168 ring finger protein 168, E3 ubiquitin protein ligase
RNF216 ring finger protein 216
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROM1 retinal outer segment membrane protein 1
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
RPIA ribose 5-phosphate isomerase A
RPSA ribosomal protein SA
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RTEL1 regulator of telomere elongation helicase 1
RYR1 ryanodine receptor 1 (skeletal)
SAG S-antigen; retina and pineal gland (arrestin)
SAR1B secretion associated, Ras related GTPase 1B
SARS2 seryl-tRNA synthetase 2, mitochondrial
SBDS Shwachman-Bodian-Diamond syndrome
SC5D sterol-C5-desaturase
SCARB2 scavenger receptor class B, member 2
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
SCO2 SCO2 cytochrome c oxidase assembly protein
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEC23B Sec23 homolog B (S. cerevisiae)
SEC63 SEC63 homolog (S. cerevisiae)
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
SERAC1 serine active site containing 1
SERPINA6 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SETBP1 SET binding protein 1
SETX senataxin
SFTPA2 surfactant protein A2
SFTPB surfactant protein B
SFXN4 sideroflexin 4
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SGSH N-sulfoglucosamine sulfohydrolase
SH2D1A SH2 domain containing 1A
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHH sonic hedgehog
SI sucrase-isomaltase (alpha-glucosidase)
SIL1 SIL1 nucleotide exchange factor
SIM1 single-minded family bHLH transcription factor 1
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SLC16A12 solute carrier family 16, member 12
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
SLC25A38 solute carrier family 25, member 38
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC26A3 solute carrier family 26 (anion exchanger), member 3
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
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9
SLC30A2 solute carrier family 30 (zinc transporter), member 2
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC36A2 solute carrier family 36 (proton/amino acid symporter), member 2
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLC6A20 solute carrier family 6 (proline IMINO transporter), member 20
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC7A14 solute carrier family 7, member 14
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
SLCO1B1 solute carrier organic anion transporter family, member 1B1
SLCO1B3 solute carrier organic anion transporter family, member 1B3
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLITRK6 SLIT and NTRK-like family, member 6
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNAP29 synaptosomal-associated protein, 29kDa
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SNRPN small nuclear ribonucleoprotein polypeptide N
SNX10 sorting nexin 10
SOS1 son of sevenless homolog 1 (Drosophila)
SOST sclerostin
SOX18 SRY (sex determining region Y)-box 18
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SP110 SP110 nuclear body protein
SPATA16 spermatogenesis associated 16
SPATA7 spermatogenesis associated 7
SPINK1 serine peptidase inhibitor, Kazal type 1
SPINK5 serine peptidase inhibitor, Kazal type 5
SPINT2 serine peptidase inhibitor, Kunitz type, 2
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
SPTB spectrin, beta, erythrocytic
SPTLC1 serine palmitoyltransferase, long chain base subunit 1
SQSTM1 sequestosome 1
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
SRD5A3 steroid 5 alpha-reductase 3
SSTR5 somatostatin receptor 5
STAC3 SH3 and cysteine rich domain 3
STAR steroidogenic acute regulatory 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
STEAP3 STEAP family member 3, metalloreductase
STIM1 stromal interaction molecule 1
STK11 serine/threonine kinase 11
STOM stomatin
STS steroid sulfatase (microsomal), isozyme S
STX11 syntaxin 11
STX16 syntaxin 16
STX1A syntaxin 1A (brain)
STXBP2 syntaxin binding protein 2
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUCLG1 succinate-CoA ligase, alpha subunit
SUFU suppressor of fused homolog (Drosophila)
SUMF1 sulfatase modifying factor 1
SUOX sulfite oxidase
SURF1 surfeit 1
SYCP3 synaptonemal complex protein 3
SYNE1 spectrin repeat containing, nuclear envelope 1
SYNE2 spectrin repeat containing, nuclear envelope 2
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TARS2 threonyl-tRNA synthetase 2, mitochondrial (putative)
TAT tyrosine aminotransferase
TAZ tafazzin
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX4 T-box 4
TCAP titin-cap
TCF3 transcription factor 3
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCN2 transcobalamin II
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TF transferrin
TFG TRK-fused gene
TFR2 transferrin receptor 2
TGFB1 transforming growth factor, beta 1
TGM1 transglutaminase 1
TIA1 TIA1 cytotoxic granule-associated RNA binding protein
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TJP2 tight junction protein 2
TK2 thymidine kinase 2, mitochondrial
TLR4 toll-like receptor 4
TLX1 T-cell leukemia homeobox 1
TMC6 transmembrane channel-like 6
TMC8 transmembrane channel-like 8
TMEM165 transmembrane protein 165
TMEM173 transmembrane protein 173
TMEM70 transmembrane protein 70
TMPRSS15 transmembrane protease, serine 15
TNF tumor necrosis factor
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
TNNI3 troponin I type 3 (cardiac)
TNPO3 transportin 3
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TP53 tumor protein p53
TPBG trophoblast glycoprotein
TPK1 thiamin pyrophosphokinase 1
TPMT thiopurine S-methyltransferase
TPO thyroid peroxidase
TPP1 tripeptidyl peptidase I
TRAF3IP2 TRAF3 interacting protein 2
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRAPPC11 trafficking protein particle complex 11
TREX1 three prime repair exonuclease 1
TRIM32 tripartite motif containing 32
TRIP11 thyroid hormone receptor interactor 11
TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae)
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
TRNE
TRPC6 transient receptor potential cation channel, subfamily C, member 6
TRPM6 transient receptor potential cation channel, subfamily M, member 6
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TSFM Ts translation elongation factor, mitochondrial
TSHB thyroid stimulating hormone, beta
TSHR thyroid stimulating hormone receptor
TSPYL1 TSPY-like 1
TST thiosulfate sulfurtransferase (rhodanese)
TTC37 tetratricopeptide repeat domain 37
TTC8 tetratricopeptide repeat domain 8
TTN titin
TTPA tocopherol (alpha) transfer protein
TTR transthyretin
TUB tubby bipartite transcription factor
TUFM Tu translation elongation factor, mitochondrial
TULP1 tubby like protein 1
TYK2 tyrosine kinase 2
TYMP thymidine phosphorylase
UBA1 ubiquitin-like modifier activating enzyme 1
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UMOD uromodulin
UMPS uridine monophosphate synthetase
UNC13D unc-13 homolog D (C. elegans)
UNG uracil-DNA glycosylase
UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2
UQCRB ubiquinol-cytochrome c reductase binding protein
UQCRC2 ubiquinol-cytochrome c reductase core protein II
UQCRQ ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
UROC1 urocanate hydratase 1
UROD uroporphyrinogen decarboxylase
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
USH2A Usher syndrome 2A (autosomal recessive, mild)
UVSSA UV-stimulated scaffold protein A
VANGL1 VANGL planar cell polarity protein 1
VCP valosin containing protein
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VKORC1 vitamin K epoxide reductase complex, subunit 1
VLDLR very low density lipoprotein receptor
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS33B vacuolar protein sorting 33 homolog B (yeast)
VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae)
VTI1A vesicle transport through interaction with t-SNAREs 1A
WAS Wiskott-Aldrich syndrome
WDPCP WD repeat containing planar cell polarity effector
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WFS1 Wolfram syndrome 1 (wolframin)
WIPF1 WAS/WASL interacting protein family, member 1
WISP3 WNT1 inducible signaling pathway protein 3
WNK1 WNK lysine deficient protein kinase 1
WNK4 WNK lysine deficient protein kinase 4
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
XDH xanthine dehydrogenase
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
XK X-linked Kx blood group
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
YAP1 Yes-associated protein 1
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZBTB24 zinc finger and BTB domain containing 24
ZEB2 zinc finger E-box binding homeobox 2
ZFP57 ZFP57 zinc finger protein
ZFY zinc finger protein, Y-linked
ZMPSTE24 zinc metallopeptidase STE24
ZNF513 zinc finger protein 513