autosomal recessive inheritance Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). (Human Phenotype Ontology, HP_0000007)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000007
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Genes

1722 genes associated with the autosomal recessive inheritance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
AARS2 alanyl-tRNA synthetase 2, mitochondrial
AASS aminoadipate-semialdehyde synthase
ABAT 4-aminobutyrate aminotransferase
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
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
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
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
ABHD12 abhydrolase domain containing 12
ABHD5 abhydrolase domain containing 5
ACACA acetyl-CoA carboxylase alpha
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
ACAN aggrecan
ACAT1 acetyl-CoA acetyltransferase 1
ACE angiotensin I converting enzyme
ACO2 aconitase 2, mitochondrial
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACP2 acid phosphatase 2, lysosomal
ACP5 acid phosphatase 5, tartrate resistant
ACSF3 acyl-CoA synthetase family member 3
ACTB actin, beta
ACY1 aminoacylase 1
ADA adenosine deaminase
ADAM17 ADAM metallopeptidase domain 17
ADAM9 ADAM metallopeptidase domain 9
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17
ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTSL2 ADAMTS-like 2
ADAMTSL4 ADAMTS-like 4
ADAR adenosine deaminase, RNA-specific
ADAT3 adenosine deaminase, tRNA-specific 3
ADCK3 aarF domain containing kinase 3
ADCK4 aarF domain containing kinase 4
ADCY1 adenylate cyclase 1 (brain)
ADGRG1 adhesion G protein-coupled receptor G1
ADGRV1 adhesion G protein-coupled receptor V1
ADK adenosine kinase
ADSL adenylosuccinate lyase
AFG3L2 AFG3-like AAA ATPase 2
AFP alpha-fetoprotein
AGA aspartylglucosaminidase
AGK acylglycerol kinase
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGPS alkylglycerone phosphate synthase
AGRN agrin
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AGXT alanine-glyoxylate aminotransferase
AHCY adenosylhomocysteinase
AHI1 Abelson helper integration site 1
AICDA activation-induced cytidine deaminase
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
AIRE autoimmune regulator
AK1 adenylate kinase 1
AK2 adenylate kinase 2
AKR1C2 aldo-keto reductase family 1, member C2
AKR1D1 aldo-keto reductase family 1, member D1
AKT2 v-akt murine thymoma viral oncogene homolog 2
ALAD aminolevulinate dehydratase
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALDH1A3 aldehyde dehydrogenase 1 family, member A3
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALDH4A1 aldehyde dehydrogenase 4 family, member A1
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ALDOA aldolase A, fructose-bisphosphate
ALDOB aldolase B, fructose-bisphosphate
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG11 ALG11, alpha-1,2-mannosyltransferase
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALG6 ALG6, alpha-1,3-glucosyltransferase
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
AMACR alpha-methylacyl-CoA racemase
AMH anti-Mullerian hormone
AMHR2 anti-Mullerian hormone receptor, type II
AMN amnion associated transmembrane protein
AMT aminomethyltransferase
ANGPTL3 angiopoietin-like 3
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
ANO10 anoctamin 10
ANO5 anoctamin 5
ANO6 anoctamin 6
ANTXR1 anthrax toxin receptor 1
ANTXR2 anthrax toxin receptor 2
AP1S1 adaptor-related protein complex 1, sigma 1 subunit
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP4B1 adaptor-related protein complex 4, beta 1 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4M1 adaptor-related protein complex 4, mu 1 subunit
AP4S1 adaptor-related protein complex 4, sigma 1 subunit
AP5Z1 adaptor-related protein complex 5, zeta 1 subunit
APCDD1 adenomatosis polyposis coli down-regulated 1
APOB apolipoprotein B
APOC2 apolipoprotein C-II
APOE apolipoprotein E
APRT adenine phosphoribosyltransferase
APTX aprataxin
AQP2 aquaporin 2 (collecting duct)
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
ARG1 arginase 1
ARHGAP31 Rho GTPase activating protein 31
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
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
ARSA arylsulfatase A
ARSB arylsulfatase B
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASL argininosuccinate lyase
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASPA aspartoacylase
ASPH aspartate beta-hydroxylase
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ASS1 argininosuccinate synthase 1
ASXL1 additional sex combs like transcriptional regulator 1
ATCAY ataxia, cerebellar, Cayman type
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATM ATM serine/threonine kinase
ATOH7 atonal homolog 7 (Drosophila)
ATP13A2 ATPase type 13A2
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
ATP5A1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
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
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
ATR ATR serine/threonine kinase
AUH AU RNA binding protein/enoyl-CoA hydratase
AURKC aurora kinase C
B2M beta-2-microglobulin
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
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
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
BAAT bile acid CoA:amino acid N-acyltransferase
BANF1 barrier to autointegration factor 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
BCHE butyrylcholinesterase
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BEST1 bestrophin 1
BFSP1 beaded filament structural protein 1, filensin
BIN1 bridging integrator 1
BLM Bloom syndrome, RecQ helicase-like
BLNK B-cell linker
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
BLVRA biliverdin reductase A
BMP1 bone morphogenetic protein 1
BMPER BMP binding endothelial regulator
BMPR1B bone morphogenetic protein receptor, type IB
BMS1 BMS1 ribosome biogenesis factor
BOLA3 bolA family member 3
BPGM 2,3-bisphosphoglycerate mutase
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRAT1 BRCA1-associated ATM activator 1
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
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C10ORF11 chromosome 10 open reading frame 11
C10ORF2 chromosome 10 open reading frame 2
C12ORF57 chromosome 12 open reading frame 57
C12ORF65 chromosome 12 open reading frame 65
C15ORF41 chromosome 15 open reading frame 41
C19ORF12 chromosome 19 open reading frame 12
C1QA complement component 1, q subcomponent, A chain
C1QB complement component 1, q subcomponent, B chain
C1QC complement component 1, q subcomponent, C chain
C1R complement component 1, r subcomponent
C2 complement component 2
C21ORF59 chromosome 21 open reading frame 59
C2ORF71 chromosome 2 open reading frame 71
C3 complement component 3
C4A complement component 4A (Rodgers blood group)
C4ORF26 chromosome 4 open reading frame 26
C5 complement component 5
C5ORF42 chromosome 5 open reading frame 42
C6 complement component 6
C7 complement component 7
C8A complement component 8, alpha polypeptide
C8B complement component 8, beta polypeptide
C8ORF37 chromosome 8 open reading frame 37
CA12 carbonic anhydrase XII
CA2 carbonic anhydrase II
CA8 carbonic anhydrase VIII
CABP2 calcium binding protein 2
CABP4 calcium binding protein 4
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4
CANT1 calcium activated nucleotidase 1
CAPN3 calpain 3, (p94)
CARD11 caspase recruitment domain family, member 11
CARD9 caspase recruitment domain family, member 9
CASC5 cancer susceptibility candidate 5
CASP8 caspase 8, apoptosis-related cysteine peptidase
CASQ2 calsequestrin 2 (cardiac muscle)
CAT catalase
CATSPER1 cation channel, sperm associated 1
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
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
CCDC39 coiled-coil domain containing 39
CCDC40 coiled-coil domain containing 40
CCDC65 coiled-coil domain containing 65
CCDC8 coiled-coil domain containing 8
CCDC88C coiled-coil domain containing 88C
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CD151 CD151 molecule (Raph blood group)
CD19 CD19 molecule
CD247 CD247 molecule
CD27 CD27 molecule
CD320 CD320 molecule
CD36 CD36 molecule (thrombospondin receptor)
CD3D CD3d molecule, delta (CD3-TCR complex)
CD3E CD3e molecule, epsilon (CD3-TCR complex)
CD3G CD3g molecule, gamma (CD3-TCR complex)
CD40 CD40 molecule, TNF receptor superfamily member 5
CD59 CD59 molecule, complement regulatory protein
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CD81 CD81 molecule
CD8A CD8a molecule
CD96 CD96 molecule
CDAN1 codanin 1
CDC6 cell division cycle 6
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
CDSN corneodesmosin
CDT1 chromatin licensing and DNA replication factor 1
CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon
CECR1 cat eye syndrome chromosome region, candidate 1
CENPJ centromere protein J
CEP135 centrosomal protein 135kDa
CEP152 centrosomal protein 152kDa
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CEP57 centrosomal protein 57kDa
CEP63 centrosomal protein 63kDa
CERKL ceramide kinase-like
CERS3 ceramide synthase 3
CFAP53 cilia and flagella associated protein 53
CFC1 cripto, FRL-1, cryptic family 1
CFD complement factor D (adipsin)
CFH complement factor H
CFI complement factor I
CFL2 cofilin 2 (muscle)
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHAT choline O-acetyltransferase
CHKB choline kinase beta
CHMP1A charged multivesicular body protein 1A
CHRM3 cholinergic receptor, muscarinic 3
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
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
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
CHSY1 chondroitin sulfate synthase 1
CHUK conserved helix-loop-helix ubiquitous kinase
CIB2 calcium and integrin binding family member 2
CIDEC cell death-inducing DFFA-like effector c
CIITA class II, major histocompatibility complex, transactivator
CIRH1A cirrhosis, autosomal recessive 1A (cirhin)
CISD2 CDGSH iron sulfur domain 2
CLCF1 cardiotrophin-like cytokine factor 1
CLCN1 chloride channel, voltage-sensitive 1
CLCN2 chloride channel, voltage-sensitive 2
CLCN7 chloride channel, voltage-sensitive 7
CLCNKB chloride channel, voltage-sensitive Kb
CLDN1 claudin 1
CLDN14 claudin 14
CLDN16 claudin 16
CLDN19 claudin 19
CLEC7A C-type lectin domain family 7, member A
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)
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
CLRN1 clarin 1
CNGA1 cyclic nucleotide gated channel alpha 1
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB1 cyclic nucleotide gated channel beta 1
CNGB3 cyclic nucleotide gated channel beta 3
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4
CNTN1 contactin 1
CNTN2 contactin 2 (axonal)
COA5 cytochrome c oxidase assembly factor 5
COASY CoA synthase
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
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
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4 collagen, type IV, alpha 4
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
COLEC11 collectin sub-family member 11
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
COMT catechol-O-methyltransferase
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COQ6 coenzyme Q6 monooxygenase
COQ9 coenzyme Q9
CORO1A coronin, actin binding protein, 1A
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)
COX20 COX20 cytochrome c oxidase assembly factor
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CP ceruloplasmin (ferroxidase)
CPA6 carboxypeptidase A6
CPN1 carboxypeptidase N, polypeptide 1
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT2 carnitine palmitoyltransferase 2
CR2 complement component (3d/Epstein Barr virus) receptor 2
CRADD CASP2 and RIPK1 domain containing adaptor with death domain
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRBN cereblon
CRH corticotropin releasing hormone
CRLF1 cytokine receptor-like factor 1
CRTAP cartilage associated protein
CRX cone-rod homeobox
CRYAB crystallin, alpha B
CRYBB1 crystallin, beta B1
CRYBB3 crystallin, beta B3
CSF2RB colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)
CSPP1 centrosome and spindle pole associated protein 1
CSTA cystatin A (stefin A)
CSTB cystatin B (stefin B)
CTC1 CTS telomere maintenance complex component 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTH cystathionine gamma-lyase
CTNS cystinosin, lysosomal cystine transporter
CTSA cathepsin A
CTSC cathepsin C
CTSD cathepsin D
CTSF cathepsin F
CTSK cathepsin K
CUBN cubilin (intrinsic factor-cobalamin receptor)
CUL7 cullin 7
CYB5A cytochrome b5 type A (microsomal)
CYB5R3 cytochrome b5 reductase 3
CYBA cytochrome b-245, alpha polypeptide
CYC1 cytochrome c-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
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
D2HGDH D-2-hydroxyglutarate dehydrogenase
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DARS aspartyl-tRNA synthetase
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DBT dihydrolipoamide branched chain transacylase E2
DCAF17 DDB1 and CUL4 associated factor 17
DCHS1 dachsous cadherin-related 1
DCLRE1C DNA cross-link repair 1C
DDB1 damage-specific DNA binding protein 1, 127kDa
DDB2 damage-specific DNA binding protein 2, 48kDa
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DDHD1 DDHD domain containing 1
DDHD2 DDHD domain containing 2
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
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
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DES desmin
DFNB31 deafness, autosomal recessive 31
DFNB59 deafness, autosomal recessive 59
DGKE diacylglycerol kinase, epsilon 64kDa
DGUOK deoxyguanosine kinase
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
DHFR dihydrofolate reductase
DHH desert hedgehog
DHODH dihydroorotate dehydrogenase (quinone)
DHTKD1 dehydrogenase E1 and transketolase domain containing 1
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DLAT dihydrolipoamide S-acetyltransferase
DLD dihydrolipoamide dehydrogenase
DLEC1 deleted in lung and esophageal cancer 1
DLL3 delta-like 3 (Drosophila)
DLX5 distal-less homeobox 5
DMGDH dimethylglycine dehydrogenase
DMP1 dentin matrix acidic phosphoprotein 1
DNAAF1 dynein, axonemal, assembly factor 1
DNAAF2 dynein, axonemal, assembly factor 2
DNAAF3 dynein, axonemal, assembly factor 3
DNAAF5 dynein, axonemal, assembly factor 5
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DNAI2 dynein, axonemal, intermediate chain 2
DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6
DNAL1 dynein, axonemal, light chain 1
DNASE1L3 deoxyribonuclease I-like 3
DNM2 dynamin 2
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOCK6 dedicator of cytokinesis 6
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
DPY19L2 dpy-19-like 2 (C. elegans)
DPYD dihydropyrimidine dehydrogenase
DPYS dihydropyrimidinase
DRC1 dynein regulatory complex subunit 1
DSC2 desmocollin 2
DSC3 desmocollin 3
DSE dermatan sulfate epimerase
DSG1 desmoglein 1
DSG4 desmoglein 4
DSP desmoplakin
DST dystonin
DTNBP1 dystrobrevin binding protein 1
DUOX2 dual oxidase 2
DUOXA2 dual oxidase maturation factor 2
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYSF dysferlin
DYX1C1 dyslexia susceptibility 1 candidate 1
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
ECEL1 endothelin converting enzyme-like 1
ECM1 extracellular matrix protein 1
EDAR ectodysplasin A receptor
EDN1 endothelin 1
EDN3 endothelin 3
EDNRB endothelin receptor type B
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFTUD2 elongation factor Tu GTP binding domain containing 2
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EGR2 early growth response 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4
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
ELMOD3 ELMO/CED-12 domain containing 3
ELOVL4 ELOVL fatty acid elongase 4
EMG1 EMG1 N1-specific pseudouridine methyltransferase
ENAM enamelin
ENO3 enolase 3 (beta, muscle)
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPB42 erythrocyte membrane protein band 4.2
EPCAM epithelial cell adhesion molecule
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)
EPX eosinophil peroxidase
ERBB2 erb-b2 receptor tyrosine kinase 2
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
ERLIN2 ER lipid raft associated 2
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
ESPN espin
ESR1 estrogen receptor 1
ESRRB estrogen-related receptor beta
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
ETHE1 ethylmalonic encephalopathy 1
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXOSC3 exosome component 3
EXPH5 exophilin 5
EXT1 exostosin glycosyltransferase 1
EYS eyes shut homolog (Drosophila)
F10 coagulation factor X
F11 coagulation factor XI
F12 coagulation factor XII (Hageman factor)
F13A1 coagulation factor XIII, A1 polypeptide
F13B coagulation factor XIII, B polypeptide
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
FA2H fatty acid 2-hydroxylase
FADD Fas (TNFRSF6)-associated via death domain
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAM126A family with sequence similarity 126, 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
FAN1 FANCD2/FANCI-associated nuclease 1
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCF Fanconi anemia, complementation group F
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FASTKD2 FAST kinase domains 2
FAT4 FAT atypical cadherin 4
FBLN5 fibulin 5
FBP1 fructose-1,6-bisphosphatase 1
FBXL4 F-box and leucine-rich repeat protein 4
FBXO7 F-box protein 7
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FCN3 ficolin (collagen/fibrinogen domain containing) 3
FECH ferrochelatase
FERMT1 fermitin family member 1
FERMT3 fermitin family member 3
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGD4 FYVE, RhoGEF and PH domain containing 4
FGF20 fibroblast growth factor 20
FGF23 fibroblast growth factor 23
FGF3 fibroblast growth factor 3
FGFR2 fibroblast growth factor receptor 2
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
FLNB filamin B, beta
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2
FMO3 flavin containing monooxygenase 3
FOLR1 folate receptor 1 (adult)
FOXE1 forkhead box E1
FOXE3 forkhead box E3
FOXF1 forkhead box F1
FOXI1 forkhead box I1
FOXN1 forkhead box N1
FOXO1 forkhead box O1
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
FSHB follicle stimulating hormone, beta polypeptide
FSHR follicle stimulating hormone receptor
FTCD formimidoyltransferase cyclodeaminase
FTL ferritin, light polypeptide
FTO fat mass and obesity associated
FUCA1 fucosidase, alpha-L- 1, tissue
FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)
FXN frataxin
FYCO1 FYVE and coiled-coil domain containing 1
FZD6 frizzled class receptor 6
G6PC glucose-6-phosphatase, catalytic subunit
G6PC3 glucose 6 phosphatase, catalytic, 3
GAA glucosidase, alpha; acid
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GALC galactosylceramidase
GALE UDP-galactose-4-epimerase
GALK1 galactokinase 1
GALNS galactosamine (N-acetyl)-6-sulfatase
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GALNTL5 polypeptide N-acetylgalactosaminyltransferase-like 5
GALT galactose-1-phosphate uridylyltransferase
GAMT guanidinoacetate N-methyltransferase
GAN gigaxonin
GATA6 GATA binding protein 6
GATAD1 GATA zinc finger domain containing 1
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GBA glucosidase, beta, acid
GBA2 glucosidase, beta (bile acid) 2
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCDH glutaryl-CoA dehydrogenase
GCH1 GTP cyclohydrolase 1
GCLC glutamate-cysteine ligase, catalytic subunit
GCSH glycine cleavage system protein H (aminomethyl carrier)
GDAP1 ganglioside induced differentiation associated protein 1
GDF1 growth differentiation factor 1
GDF5 growth differentiation factor 5
GDF6 growth differentiation factor 6
GFER growth factor, augmenter of liver regeneration
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
GHRHR growth hormone releasing hormone receptor
GIF gastric intrinsic factor (vitamin B synthesis)
GIPC3 GIPC PDZ domain containing family, member 3
GJA1 gap junction protein, alpha 1, 43kDa
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
GLB1 galactosidase, beta 1
GLDC glycine dehydrogenase (decarboxylating)
GLE1 GLE1 RNA export mediator
GLIS2 GLIS family zinc finger 2
GLIS3 GLIS family zinc finger 3
GLRA1 glycine receptor, alpha 1
GLRB glycine receptor, beta
GLRX5 glutaredoxin 5
GLUL glutamate-ammonia ligase
GLYCTK glycerate kinase
GM2A GM2 ganglioside activator
GMPPA GDP-mannose pyrophosphorylase A
GMPPB GDP-mannose pyrophosphorylase B
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNMT glycine N-methyltransferase
GNPAT glyceronephosphate O-acyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GNRHR gonadotropin-releasing hormone receptor
GNS glucosamine (N-acetyl)-6-sulfatase
GORAB golgin, RAB6-interacting
GOSR2 golgi SNAP receptor complex member 2
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GP1BB glycoprotein Ib (platelet), beta polypeptide
GP6 glycoprotein VI (platelet)
GP9 glycoprotein IX (platelet)
GPC6 glypican 6
GPD1 glycerol-3-phosphate dehydrogenase 1 (soluble)
GPI glucose-6-phosphate isomerase
GPR179 G protein-coupled receptor 179
GPSM2 G-protein signaling modulator 2
GPX1 glutathione peroxidase 1
GRHPR glyoxylate reductase/hydroxypyruvate reductase
GRIK2 glutamate receptor, ionotropic, kainate 2
GRIP1 glutamate receptor interacting protein 1
GRK1 G protein-coupled receptor kinase 1
GRM1 glutamate receptor, metabotropic 1
GRM6 glutamate receptor, metabotropic 6
GRN granulin
GRXCR1 glutaredoxin, cysteine rich 1
GSC goosecoid homeobox
GSR glutathione reductase
GSS glutathione synthetase
GTF2H5 general transcription factor IIH, polypeptide 5
GUCY2C guanylate cyclase 2C
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
GUSB glucuronidase, beta
GYG1 glycogenin 1
GYS1 glycogen synthase 1 (muscle)
GYS2 glycogen synthase 2 (liver)
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
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
HARS histidyl-tRNA synthetase
HARS2 histidyl-tRNA synthetase 2, mitochondrial
HAX1 HCLS1 associated protein X-1
HBB hemoglobin, beta
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
HEXA hexosaminidase A (alpha polypeptide)
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HFM1 HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)
HGD homogentisate 1,2-dioxygenase
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HIBCH 3-hydroxyisobutyryl-CoA hydrolase
HINT1 histidine triad nucleotide binding protein 1
HK1 hexokinase 1
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase
HMOX1 heme oxygenase 1
HMX1 H6 family homeobox 1
HOGA1 4-hydroxy-2-oxoglutarate aldolase 1
HOXA2 homeobox A2
HOXB1 homeobox B1
HOXC13 homeobox C13
HPD 4-hydroxyphenylpyruvate dioxygenase
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
HPSE2 heparanase 2 (inactive)
HR hair growth associated
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HSPG2 heparan sulfate proteoglycan 2
HTRA1 HtrA serine peptidase 1
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
IDUA iduronidase, alpha-L-
IER3IP1 immediate early response 3 interacting protein 1
IFNGR1 interferon gamma receptor 1
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IFT43 intraflagellar transport 43
IFT80 intraflagellar transport 80
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGFBP7 insulin-like growth factor binding protein 7
IGHM immunoglobulin heavy constant mu
IGHMBP2 immunoglobulin mu binding protein 2
IGLL1 immunoglobulin lambda-like polypeptide 1
IHH indian hedgehog
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
IL10RA interleukin 10 receptor, alpha
IL10RB interleukin 10 receptor, beta
IL11RA interleukin 11 receptor, alpha
IL17RA interleukin 17 receptor A
IL1RN interleukin 1 receptor antagonist
IL21R interleukin 21 receptor
IL2RA interleukin 2 receptor, alpha
IL36RN interleukin 36 receptor antagonist
IL7R interleukin 7 receptor
ILDR1 immunoglobulin-like domain containing receptor 1
IMPAD1 inositol monophosphatase domain containing 1
IMPG2 interphotoreceptor matrix proteoglycan 2
ING1 inhibitor of growth family, member 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INPPL1 inositol polyphosphate phosphatase-like 1
INSR insulin receptor
INVS inversin
IQCB1 IQ motif containing B1
IRAK4 interleukin-1 receptor-associated kinase 4
IRF1 interferon regulatory factor 1
IRF4 interferon regulatory factor 4
IRF8 interferon regulatory factor 8
IRX5 iroquois homeobox 5
ISCU iron-sulfur cluster assembly enzyme
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
ITGA7 integrin, alpha 7
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
IVD isovaleryl-CoA dehydrogenase
IYD iodotyrosine deiodinase
JAK3 Janus kinase 3
JAM3 junctional adhesion molecule 3
JUP junction plakoglobin
KARS lysyl-tRNA synthetase
KAT6B K(lysine) acetyltransferase 6B
KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1
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
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2
KCTD7 potassium channel tetramerization domain containing 7
KERA keratocan
KHDC3L KH domain containing 3-like, subcortical maternal complex member
KIAA0196 KIAA0196
KIAA0226 KIAA0226
KIF1A kinesin family member 1A
KIF1BP KIF1 binding protein
KIF1C kinesin family member 1C
KIF7 kinesin family member 7
KISS1 KiSS-1 metastasis-suppressor
KISS1R KISS1 receptor
KL klotho
KLHDC8B kelch domain containing 8B
KLHL3 kelch-like family member 3
KLHL41 kelch-like family member 41
KLK4 kallikrein-related peptidase 4
KLKB1 kallikrein B, plasma (Fletcher factor) 1
KPTN kaptin (actin binding protein)
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT14 keratin 14, type I
KRT5 keratin 5, type II
KRT85 keratin 85, type II
L2HGDH L-2-hydroxyglutarate dehydrogenase
LAMA2 laminin, alpha 2
LAMA3 laminin, alpha 3
LAMB1 laminin, beta 1
LAMB2 laminin, beta 2 (laminin S)
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LAMC3 laminin, gamma 3
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LARGE like-glycosyltransferase
LARP7 La ribonucleoprotein domain family, member 7
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LBR lamin B receptor
LCA5 Leber congenital amaurosis 5
LCAT lecithin-cholesterol acyltransferase
LCT lactase
LDHA lactate dehydrogenase A
LDLRAP1 low density lipoprotein receptor adaptor protein 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LHCGR luteinizing hormone/choriogonadotropin receptor
LHFPL5 lipoma HMGIC fusion partner-like 5
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
LIAS lipoic acid synthetase
LIFR leukemia inhibitory factor receptor alpha
LINS lines homolog (Drosophila)
LIPA lipase A, lysosomal acid, cholesterol esterase
LIPC lipase, hepatic
LIPH lipase, member H
LIPN lipase, family member N
LMAN1 lectin, mannose-binding, 1
LMBR1 limb development membrane protein 1
LMBRD1 LMBR1 domain containing 1
LMF1 lipase maturation factor 1
LMNA lamin A/C
LOXHD1 lipoxygenase homology domains 1
LPAR6 lysophosphatidic acid receptor 6
LPIN1 lipin 1
LPL lipoprotein lipase
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRIG2 leucine-rich repeats and immunoglobulin-like domains 2
LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3
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
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
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
LYRM4 LYR motif containing 4
LYST lysosomal trafficking regulator
LZTFL1 leucine zipper transcription factor-like 1
MAK male germ cell-associated kinase
MALT1 MALT1 paracaspase
MAN1B1 mannosidase, alpha, class 1B, member 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MANBA mannosidase, beta A, lysosomal
MAP3K8 mitogen-activated protein kinase kinase kinase 8
MARS2 methionyl-tRNA synthetase 2, mitochondrial
MARVELD2 MARVEL domain containing 2
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MAT1A methionine adenosyltransferase I, alpha
MATN3 matrilin 3
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MCEE methylmalonyl CoA epimerase
MCFD2 multiple coagulation factor deficiency 2
MCM4 minichromosome maintenance complex component 4
MCM6 minichromosome maintenance complex component 6
MCOLN1 mucolipin 1
MCPH1 microcephalin 1
MED17 mediator complex subunit 17
MED23 mediator complex subunit 23
MED25 mediator complex subunit 25
MEFV Mediterranean fever
MEGF10 multiple EGF-like-domains 10
MEGF8 multiple EGF-like-domains 8
MEOX1 mesenchyme homeobox 1
MERTK MER proto-oncogene, tyrosine kinase
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MFN2 mitofusin 2
MFRP membrane frizzled-related protein
MFSD8 major facilitator superfamily domain containing 8
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGME1 mitochondrial genome maintenance exonuclease 1
MGP matrix Gla protein
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
MLH1 mutL homolog 1
MLPH melanophilin
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
MMP2 matrix metallopeptidase 2
MMP20 matrix metallopeptidase 20
MMP9 matrix metallopeptidase 9
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MOGS mannosyl-oligosaccharide glucosidase
MPC1 mitochondrial pyruvate carrier 1
MPDZ multiple PDZ domain protein
MPI mannose phosphate isomerase
MPL MPL proto-oncogene, thrombopoietin receptor
MPLKIP M-phase specific PLK1 interacting protein
MPO myeloperoxidase
MPV17 MpV17 mitochondrial inner membrane protein
MPZ myelin protein zero
MRAP melanocortin 2 receptor accessory protein
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
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
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MSRB3 methionine sulfoxide reductase B3
MSTN myostatin
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTMR2 myotubularin related protein 2
MTO1 mitochondrial tRNA translation optimization 1
MTPAP mitochondrial poly(A) polymerase
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MTTP microsomal triglyceride transfer protein
MUSK muscle, skeletal, receptor tyrosine kinase
MUT methylmalonyl CoA mutase
MUTYH mutY homolog
MVK mevalonate kinase
MYH2 myosin, heavy chain 2, skeletal muscle, adult
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow
MYO15A myosin XVA
MYO1E myosin IE
MYO3A myosin IIIA
MYO5A myosin VA (heavy chain 12, myoxin)
MYO5B myosin VB
MYO6 myosin VI
MYO7A myosin VIIA
NAGA N-acetylgalactosaminidase, alpha-
NAGLU N-acetylglucosaminidase, alpha
NAGS N-acetylglutamate synthase
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
NDE1 nudE neurodevelopment protein 1
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
NEFL neurofilament, light polypeptide
NEK1 NIMA-related kinase 1
NEK2 NIMA-related kinase 2
NEK8 NIMA-related kinase 8
NEU1 sialidase 1 (lysosomal sialidase)
NEUROG3 neurogenin 3
NFU1 NFU1 iron-sulfur cluster scaffold
NGF nerve growth factor (beta polypeptide)
NGLY1 N-glycanase 1
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NHP2 NHP2 ribonucleoprotein
NIN ninein (GSK3B interacting protein)
NIPAL4 NIPA-like domain containing 4
NKX2-5 NK2 homeobox 5
NKX2-6 NK2 homeobox 6
NKX3-2 NK3 homeobox 2
NLRP7 NLR family, pyrin domain containing 7
NME8 NME/NM23 family member 8
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NNT nicotinamide nucleotide transhydrogenase
NODAL nodal growth differentiation factor
NOP10 NOP10 ribonucleoprotein
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
NPR2 natriuretic peptide receptor 2
NR2E3 nuclear receptor subfamily 2, group E, member 3
NR5A1 nuclear receptor subfamily 5, group A, member 1
NRXN1 neurexin 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NT5C2 5'-nucleotidase, cytosolic II
NT5C3A 5'-nucleotidase, cytosolic IIIA
NT5E 5'-nucleotidase, ecto (CD73)
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NUBPL nucleotide binding protein-like
NUP62 nucleoporin 62kDa
OAT ornithine aminotransferase
OBSL1 obscurin-like 1
OCA2 oculocutaneous albinism II
OCLN occludin
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
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
OSTM1 osteopetrosis associated transmembrane protein 1
OTOA otoancorin
OTOF otoferlin
OTOG otogelin
OTOGL otogelin-like
OXCT1 3-oxoacid CoA transferase 1
P2RY12 purinergic receptor P2Y, G-protein coupled, 12
P3H1 prolyl 3-hydroxylase 1
P3H2 prolyl 3-hydroxylase 2
PAH phenylalanine hydroxylase
PALB2 partner and localizer of BRCA2
PANK2 pantothenate kinase 2
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PARK2 parkin RBR E3 ubiquitin protein ligase
PARK7 parkinson protein 7
PAX1 paired box 1
PAX2 paired box 2
PAX3 paired box 3
PAX6 paired box 6
PAX7 paired box 7
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
PCDH15 protocadherin-related 15
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PCK2 phosphoenolpyruvate carboxykinase 2 (mitochondrial)
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma
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
PDZD7 PDZ domain containing 7
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
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
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
PFKM phosphofructokinase, muscle
PGAM2 phosphoglycerate mutase 2 (muscle)
PGAP2 post-GPI attachment to proteins 2
PGM1 phosphoglucomutase 1
PGR progesterone receptor
PHC1 polyhomeotic homolog 1 (Drosophila)
PHGDH phosphoglycerate dehydrogenase
PHKB phosphorylase kinase, beta
PHKG2 phosphorylase kinase, gamma 2 (testis)
PHOX2A paired-like homeobox 2a
PHYH phytanoyl-CoA 2-hydroxylase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGM phosphatidylinositol glycan anchor biosynthesis, class M
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)
PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5
PINK1 PTEN induced putative kinase 1
PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
PITX2 paired-like homeodomain 2
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PKLR pyruvate kinase, liver and RBC
PLA2G5 phospholipase A2, group V
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PLCB4 phospholipase C, beta 4
PLCD1 phospholipase C, delta 1
PLCE1 phospholipase C, epsilon 1
PLEC plectin
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLEKHM1 pleckstrin homology domain containing, family M (with RUN domain) member 1
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
PMM2 phosphomannomutase 2
PMP22 peripheral myelin protein 22
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNKP polynucleotide kinase 3'-phosphatase
PNLIP pancreatic lipase
PNP purine nucleoside phosphorylase
PNPLA1 patatin-like phospholipase domain containing 1
PNPLA2 patatin-like phospholipase domain containing 2
PNPLA6 patatin-like phospholipase domain containing 6
PNPO pyridoxamine 5'-phosphate oxidase
PNPT1 polyribonucleotide nucleotidyltransferase 1
POC1A POC1 centriolar protein A
POLE polymerase (DNA directed), epsilon, catalytic subunit
POLG polymerase (DNA directed), gamma
POLH polymerase (DNA directed), eta
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
POMC proopiomelanocortin
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMP proteasome maturation protein
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
POR P450 (cytochrome) oxidoreductase
POU1F1 POU class 1 homeobox 1
PPIB peptidylprolyl isomerase B (cyclophilin B)
PPP2R1B protein phosphatase 2, regulatory subunit A, beta
PPT1 palmitoyl-protein thioesterase 1
PRCD progressive rod-cone degeneration
PRDM5 PR domain containing 5
PRF1 perforin 1 (pore forming protein)
PRG4 proteoglycan 4
PRICKLE1 prickle homolog 1 (Drosophila)
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCD protein kinase C, delta
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
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)
PRRX1 paired related homeobox 1
PRSS1 protease, serine, 1 (trypsin 1)
PRSS12 protease, serine, 12 (neurotrypsin, motopsin)
PRSS56 protease, serine, 56
PRX periaxin
PSAP prosaposin
PSAT1 phosphoserine aminotransferase 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PSMC3IP PSMC3 interacting protein
PSPH phosphoserine phosphatase
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTPN14 protein tyrosine phosphatase, non-receptor type 14
PTPRC protein tyrosine phosphatase, receptor type, C
PTPRO protein tyrosine phosphatase, receptor type, O
PTPRQ protein tyrosine phosphatase, receptor type, Q
PTRF polymerase I and transcript release factor
PTS 6-pyruvoyltetrahydropterin synthase
PUS1 pseudouridylate synthase 1
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PXDN peroxidasin
PYCR1 pyrroline-5-carboxylate reductase 1
PYGL phosphorylase, glycogen, liver
PYGM phosphorylase, glycogen, muscle
QDPR quinoid dihydropteridine reductase
RAB18 RAB18, member RAS oncogene family
RAB23 RAB23, member RAS oncogene family
RAB27A RAB27A, member RAS oncogene family
RAB28 RAB28, member RAS oncogene family
RAB33B RAB33B, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD50 RAD50 homolog (S. cerevisiae)
RAD51C RAD51 paralog C
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RAPSN receptor-associated protein of the synapse
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
RAX retina and anterior neural fold homeobox
RBBP8 retinoblastoma binding protein 8
RBM28 RNA binding motif protein 28
RBM8A RNA binding motif protein 8A
RBP3 retinol binding protein 3, interstitial
RBP4 retinol binding protein 4, plasma
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RDX radixin
RECQL4 RecQ protein-like 4
REEP2 receptor accessory protein 2
RELN reelin
REN renin
RET ret proto-oncogene
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
RHAG Rh-associated glycoprotein
RHO rhodopsin
RIN2 Ras and Rab interactor 2
RIPK4 receptor-interacting serine-threonine kinase 4
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
RNF168 ring finger protein 168, E3 ubiquitin protein ligase
RNF216 ring finger protein 216
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
ROGDI rogdi homolog (Drosophila)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RP2 retinitis pigmentosa 2 (X-linked recessive)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RPIA ribose 5-phosphate isomerase A
RPSA ribosomal protein SA
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RSPH1 radial spoke head 1 homolog (Chlamydomonas)
RSPH4A radial spoke head 4 homolog A (Chlamydomonas)
RSPH9 radial spoke head 9 homolog (Chlamydomonas)
RSPO4 R-spondin 4
RTEL1 regulator of telomere elongation helicase 1
RTTN rotatin
RYR1 ryanodine receptor 1 (skeletal)
SACS sacsin molecular chaperone
SAG S-antigen; retina and pineal gland (arrestin)
SAMD9 sterile alpha motif domain containing 9
SAMHD1 SAM domain and HD domain 1
SAR1B secretion associated, Ras related GTPase 1B
SARS2 seryl-tRNA synthetase 2, mitochondrial
SBDS Shwachman-Bodian-Diamond syndrome
SBF1 SET binding factor 1
SBF2 SET binding factor 2
SC5D sterol-C5-desaturase
SCARB2 scavenger receptor class B, member 2
SCARF2 scavenger receptor class F, member 2
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SCO2 SCO2 cytochrome c oxidase assembly protein
SDCCAG8 serologically defined colon cancer antigen 8
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SEC23A Sec23 homolog A (S. cerevisiae)
SEC23B Sec23 homolog B (S. cerevisiae)
SECISBP2 SECIS binding protein 2
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SEPN1 selenoprotein N, 1
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SERAC1 serine active site containing 1
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINA6 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
SERPINB6 serpin peptidase inhibitor, clade B (ovalbumin), member 6
SERPINB7 serpin peptidase inhibitor, clade B (ovalbumin), member 7
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETX senataxin
SFTPB surfactant protein B
SFXN4 sideroflexin 4
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SGSH N-sulfoglucosamine sulfohydrolase
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SHOX short stature homeobox
SI sucrase-isomaltase (alpha-glucosidase)
SIGMAR1 sigma non-opioid intracellular receptor 1
SIL1 SIL1 nucleotide exchange factor
SIX6 SIX homeobox 6
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2
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
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
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
SLC22A18 solute carrier family 22, member 18
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC24A1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12
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
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
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
SLC26A5 solute carrier family 26 (anion exchanger), member 5
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
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC30A10 solute carrier family 30, member 10
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
SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member 2
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1
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
SLC36A2 solute carrier family 36 (proton/amino acid symporter), member 2
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
SLC45A2 solute carrier family 45, member 2
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A11 solute carrier family 4, sodium borate transporter, member 11
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLC6A20 solute carrier family 6 (proline IMINO transporter), member 20
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
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
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
SLURP1 secreted LY6/PLAUR domain containing 1
SLX4 SLX4 structure-specific endonuclease subunit
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMN1 survival of motor neuron 1, telomeric
SMOC1 SPARC related modular calcium binding 1
SMOC2 SPARC related modular calcium binding 2
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNAI2 snail family zinc finger 2
SNAP29 synaptosomal-associated protein, 29kDa
SNIP1 Smad nuclear interacting protein 1
SNX10 sorting nexin 10
SOBP sine oculis binding protein homolog (Drosophila)
SOD1 superoxide dismutase 1, soluble
SOST sclerostin
SOX18 SRY (sex determining region Y)-box 18
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
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
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)
SPTA1 spectrin, alpha, erythrocytic 1
SPTBN2 spectrin, beta, non-erythrocytic 2
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
SRD5A3 steroid 5 alpha-reductase 3
ST14 suppression of tumorigenicity 14 (colon carcinoma)
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STAC3 SH3 and cysteine rich domain 3
STAG3 stromal antigen 3
STAMBP STAM binding protein
STAR steroidogenic acute regulatory protein
STAT1 signal transducer and activator of transcription 1, 91kDa
STIL SCL/TAL1 interrupting locus
STIM1 stromal interaction molecule 1
STK4 serine/threonine kinase 4
STRA6 stimulated by retinoic acid 6
STRADA STE20-related kinase adaptor alpha
STT3A STT3A, subunit of the oligosaccharyltransferase complex (catalytic)
STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
STX11 syntaxin 11
STXBP2 syntaxin binding protein 2
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUCLG1 succinate-CoA ligase, alpha subunit
SUMF1 sulfatase modifying factor 1
SUOX sulfite oxidase
SURF1 surfeit 1
SYCP3 synaptonemal complex protein 3
SYNE4 spectrin repeat containing, nuclear envelope family member 4
SYNJ1 synaptojanin 1
SYT14 synaptotagmin XIV
SZT2 seizure threshold 2 homolog (mouse)
T T, brachyury homolog (mouse)
TAC3 tachykinin 3
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TACR3 tachykinin receptor 3
TACSTD2 tumor-associated calcium signal transducer 2
TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
TALDO1 transaldolase 1
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
TBC1D20 TBC1 domain family, member 20
TBC1D24 TBC1 domain family, member 24
TBCE tubulin folding cofactor E
TBX1 T-box 1
TBX15 T-box 15
TBX19 T-box 19
TBX21 T-box 21
TBXAS1 thromboxane A synthase 1 (platelet)
TCAP titin-cap
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCN2 transcobalamin II
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TDP1 tyrosyl-DNA phosphodiesterase 1
TDRD7 tudor domain containing 7
TECPR2 tectonin beta-propeller repeat containing 2
TECR trans-2,3-enoyl-CoA reductase
TECTA tectorin alpha
TENM3 teneurin transmembrane protein 3
TF transferrin
TFG TRK-fused gene
TFR2 transferrin receptor 2
TG thyroglobulin
TGM1 transglutaminase 1
TGM5 transglutaminase 5
TH tyrosine hydroxylase
THOC6 THO complex 6
THRB thyroid hormone receptor, beta
TIA1 TIA1 cytotoxic granule-associated RNA binding protein
TICAM1 toll-like receptor adaptor molecule 1
TJP2 tight junction protein 2
TK2 thymidine kinase 2, mitochondrial
TMC1 transmembrane channel-like 1
TMCO1 transmembrane and coiled-coil domains 1
TMEM126A transmembrane protein 126A
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
TMIE transmembrane inner ear
TMPRSS15 transmembrane protease, serine 15
TMPRSS3 transmembrane protease, serine 3
TMPRSS6 transmembrane protease, serine 6
TNF tumor necrosis factor
TNFRSF10B tumor necrosis factor receptor superfamily, member 10b
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
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNNI3 troponin I type 3 (cardiac)
TNNT1 troponin T type 1 (skeletal, slow)
TNXB tenascin XB
TP53 tumor protein p53
TPK1 thiamin pyrophosphokinase 1
TPM3 tropomyosin 3
TPMT thiopurine S-methyltransferase
TPO thyroid peroxidase
TPP1 tripeptidyl peptidase I
TRAC T cell receptor alpha constant
TRAF3IP2 TRAF3 interacting protein 2
TRAPPC11 trafficking protein particle complex 11
TRAPPC9 trafficking protein particle complex 9
TRDN triadin
TREH trehalase (brush-border membrane glycoprotein)
TREM2 triggering receptor expressed on myeloid cells 2
TREX1 three prime repair exonuclease 1
TRH thyrotropin-releasing hormone
TRIM2 tripartite motif containing 2
TRIM32 tripartite motif containing 32
TRIM37 tripartite motif containing 37
TRIOBP TRIO and F-actin binding protein
TRIP11 thyroid hormone receptor interactor 11
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
TRPM6 transient receptor potential cation channel, subfamily M, member 6
TSEN2 TSEN2 tRNA splicing endonuclease subunit
TSEN34 TSEN34 tRNA splicing endonuclease subunit
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TSFM Ts translation elongation factor, mitochondrial
TSHB thyroid stimulating hormone, beta
TSHR thyroid stimulating hormone receptor
TSPEAR thrombospondin-type laminin G domain and EAR repeats
TSPYL1 TSPY-like 1
TTC19 tetratricopeptide repeat domain 19
TTC21B tetratricopeptide repeat domain 21B
TTC37 tetratricopeptide repeat domain 37
TTC7A tetratricopeptide repeat domain 7A
TTC8 tetratricopeptide repeat domain 8
TTI2 TELO2 interacting protein 2
TTN titin
TTPA tocopherol (alpha) transfer protein
TUBA8 tubulin, alpha 8
TUBB2B tubulin, beta 2B class IIb
TUBB4A tubulin, beta 4A class IVa
TUBGCP6 tubulin, gamma complex associated protein 6
TUFM Tu translation elongation factor, mitochondrial
TULP1 tubby like protein 1
TUSC3 tumor suppressor candidate 3
TWIST2 twist family bHLH transcription factor 2
TYK2 tyrosine kinase 2
TYMP thymidine phosphorylase
TYR tyrosinase
TYROBP TYRO protein tyrosine kinase binding protein
TYRP1 tyrosinase-related protein 1
UBE3B ubiquitin protein ligase E3B
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UMPS uridine monophosphate synthetase
UNC13D unc-13 homolog D (C. elegans)
UNC93B1 unc-93 homolog B1 (C. elegans)
UNG uracil-DNA glycosylase
UPB1 ureidopropionase, beta
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
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)
UVSSA UV-stimulated scaffold protein A
VAX1 ventral anterior homeobox 1
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)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VPS33B vacuolar protein sorting 33 homolog B (yeast)
VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae)
VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae)
VRK1 vaccinia related kinase 1
VSX2 visual system homeobox 2
VTI1A vesicle transport through interaction with t-SNAREs 1A
VWF von Willebrand factor
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
WDR62 WD repeat domain 62
WDR72 WD repeat domain 72
WDR81 WD repeat domain 81
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
WNT1 wingless-type MMTV integration site family, member 1
WNT10A wingless-type MMTV integration site family, member 10A
WNT10B wingless-type MMTV integration site family, member 10B
WNT3 wingless-type MMTV integration site family, member 3
WNT4 wingless-type MMTV integration site family, member 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
WWOX WW domain containing oxidoreductase
XDH xanthine dehydrogenase
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
XPNPEP3 X-prolyl aminopeptidase 3, mitochondrial
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZBTB16 zinc finger and BTB domain containing 16
ZBTB24 zinc finger and BTB domain containing 24
ZFYVE26 zinc finger, FYVE domain containing 26
ZMPSTE24 zinc metallopeptidase STE24
ZMYND10 zinc finger, MYND-type containing 10
ZNF141 zinc finger protein 141
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
ZP1 zona pellucida glycoprotein 1 (sperm receptor)