pathogenic Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
Similar Terms
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Genes

757 genes co-occuring with the biological term pathogenic in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
A2M alpha-2-macroglobulin
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACAD9 acyl-CoA dehydrogenase family, member 9
ACKR2 atypical chemokine receptor 2
ACTA2 actin, alpha 2, smooth muscle, aorta
ADAM17 ADAM metallopeptidase domain 17
ADAMDEC1 ADAM-like, decysin 1
ADAR adenosine deaminase, RNA-specific
ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide
ADIPOQ adiponectin, C1Q and collagen domain containing
AGER advanced glycosylation end product-specific receptor
AGGF1 angiogenic factor with G patch and FHA domains 1
AGRN agrin
AGXT alanine-glyoxylate aminotransferase
AHSP alpha hemoglobin stabilizing protein
AICDA activation-induced cytidine deaminase
AK1 adenylate kinase 1
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
AMER1 APC membrane recruitment protein 1
ANGPTL3 angiopoietin-like 3
ANXA7 annexin A7
AP4M1 adaptor-related protein complex 4, mu 1 subunit
APBB1 amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)
APC adenomatous polyposis coli
APOA1 apolipoprotein A-I
APOB apolipoprotein B
APOBEC3G apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G
APOE apolipoprotein E
APOH apolipoprotein H (beta-2-glycoprotein I)
APP amyloid beta (A4) precursor protein
AQP3 aquaporin 3 (Gill blood group)
AQP7 aquaporin 7
AR androgen receptor
ARG2 arginase 2
ARMS2 age-related maculopathy susceptibility 2
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ARPP21 cAMP-regulated phosphoprotein, 21kDa
ARSA arylsulfatase A
ASXL1 additional sex combs like transcriptional regulator 1
ATL1 atlastin GTPase 1
ATM ATM serine/threonine kinase
ATP13A2 ATPase type 13A2
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATRX alpha thalassemia/mental retardation syndrome X-linked
ATXN1 ataxin 1
ATXN2 ataxin 2
ATXN3 ataxin 3
ATXN7 ataxin 7
ATXN8OS ATXN8 opposite strand (non-protein coding)
AVP arginine vasopressin
AXIN2 axin 2
B9D1 B9 protein domain 1
BACE1 beta-site APP-cleaving enzyme 1
BAG3 BCL2-associated athanogene 3
BCL2 B-cell CLL/lymphoma 2
BCL6 B-cell CLL/lymphoma 6
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BEST1 bestrophin 1
BMP6 bone morphogenetic protein 6
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BTD biotinidase
C1QTNF5 C1q and tumor necrosis factor related protein 5
C3 complement component 3
C4B complement component 4B (Chido blood group)
C5AR1 complement component 5a receptor 1
C5ORF42 chromosome 5 open reading frame 42
C9ORF72 chromosome 9 open reading frame 72
CA2 carbonic anhydrase II
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CADM2 cell adhesion molecule 2
CAMP cathelicidin antimicrobial peptide
CAPN3 calpain 3, (p94)
CASP10 caspase 10, apoptosis-related cysteine peptidase
CAV3 caveolin 3
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CBS cystathionine-beta-synthase
CCL2 chemokine (C-C motif) ligand 2
CCL21 chemokine (C-C motif) ligand 21
CCL3 chemokine (C-C motif) ligand 3
CCL5 chemokine (C-C motif) ligand 5
CCR1 chemokine (C-C motif) receptor 1
CCR6 chemokine (C-C motif) receptor 6
CD207 CD207 molecule, langerin
CD22 CD22 molecule
CD33 CD33 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CD44 CD44 molecule (Indian blood group)
CD46 CD46 molecule, complement regulatory protein
CD83 CD83 molecule
CD86 CD86 molecule
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDH23 cadherin-related 23
CDH5 cadherin 5, type 2 (vascular endothelium)
CDK4 cyclin-dependent kinase 4
CDKL5 cyclin-dependent kinase-like 5
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDSN corneodesmosin
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CELF1 CUGBP, Elav-like family member 1
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CENPE centromere protein E, 312kDa
CEP41 centrosomal protein 41kDa
CFH complement factor H
CFHR1 complement factor H-related 1
CFHR5 complement factor H-related 5
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD7 chromodomain helicase DNA binding protein 7
CHED1 corneal endothelial dystrophy 1 (autosomal dominant)
CHM choroideremia (Rab escort protein 1)
CHMP2B charged multivesicular body protein 2B
CHRM3 cholinergic receptor, muscarinic 3
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
CLASP2 cytoplasmic linker associated protein 2
CLCN1 chloride channel, voltage-sensitive 1
CLDN3 claudin 3
CLDN4 claudin 4
CLEC4A C-type lectin domain family 4, member A
CNGB3 cyclic nucleotide gated channel beta 3
CNR1 cannabinoid receptor 1 (brain)
CNR2 cannabinoid receptor 2 (macrophage)
COL10A1 collagen, type X, alpha 1
COL3A1 collagen, type III, alpha 1
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4 collagen, type IV, alpha 4
COL6A2 collagen, type VI, alpha 2
COL7A1 collagen, type VII, alpha 1
COL8A1 collagen, type VIII, alpha 1
COL8A2 collagen, type VIII, alpha 2
COPS5 COP9 signalosome subunit 5
CPSF4 cleavage and polyadenylation specific factor 4, 30kDa
CREB1 cAMP responsive element binding protein 1
CREBBP CREB binding protein
CRH corticotropin releasing hormone
CRP C-reactive protein, pentraxin-related
CRY2 cryptochrome circadian clock 2
CRYAA crystallin, alpha A
CRYAB crystallin, alpha B
CRYBB1 crystallin, beta B1
CRYBB2 crystallin, beta B2
CSF1R colony stimulating factor 1 receptor
CSNK1E casein kinase 1, epsilon
CST3 cystatin C
CTBP1 C-terminal binding protein 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSL cathepsin L
CX3CL1 chemokine (C-X3-C motif) ligand 1
CX3CR1 chemokine (C-X3-C motif) receptor 1
CXADR coxsackie virus and adenovirus receptor
CXCL8 chemokine (C-X-C motif) ligand 8
CXCR3 chemokine (C-X-C motif) receptor 3
CYBB cytochrome b-245, beta polypeptide
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
D2HGDH D-2-hydroxyglutarate dehydrogenase
DAB2 Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)
DAO D-amino-acid oxidase
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DBT dihydrolipoamide branched chain transacylase E2
DCN decorin
DCTN1 dynactin 1
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DDX41 DEAD (Asp-Glu-Ala-Asp) box polypeptide 41
DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58
DEFB1 defensin, beta 1
DEFB103B defensin, beta 103B
DEFB4A defensin, beta 4A
DES desmin
DFNA52 deafness, autosomal dominant 52
DHX9 DEAH (Asp-Glu-Ala-His) box helicase 9
DICER1 dicer 1, ribonuclease type III
DLD dihydrolipoamide dehydrogenase
DLG1 discs, large homolog 1 (Drosophila)
DLL4 delta-like 4 (Drosophila)
DMD dystrophin
DMGDH dimethylglycine dehydrogenase
DNAJC13 DnaJ (Hsp40) homolog, subfamily C, member 13
DNM1L dynamin 1-like
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOCK4 dedicator of cytokinesis 4
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPYD dihydropyrimidine dehydrogenase
DSC2 desmocollin 2
DSG1 desmoglein 1
DSG3 desmoglein 3
DSG4 desmoglein 4
DTNBP1 dystrobrevin binding protein 1
DUOX2 dual oxidase 2
DUX4L1 double homeobox 4 like 1
DYSF dysferlin
EBP emopamil binding protein (sterol isomerase)
EDA ectodysplasin A
EEF1A1 eukaryotic translation elongation factor 1 alpha 1
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EGFR epidermal growth factor receptor
EIF2AK2 eukaryotic translation initiation factor 2-alpha kinase 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EIF2S1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa
EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1
EIF4G1 eukaryotic translation initiation factor 4 gamma, 1
ELANE elastase, neutrophil expressed
ELK1 ELK1, member of ETS oncogene family
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
EMX2 empty spiracles homeobox 2
ENG endoglin
EPHA2 EPH receptor A2
EPYC epiphycan
ERAP1 endoplasmic reticulum aminopeptidase 1
ERBB2 erb-b2 receptor tyrosine kinase 2
ERCC4 excision repair cross-complementation group 4
ESR1 estrogen receptor 1
ETS1 v-ets avian erythroblastosis virus E26 oncogene homolog 1
ETV6 ets variant 6
EVC2 Ellis van Creveld syndrome 2
EXOC4 exocyst complex component 4
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EYS eyes shut homolog (Drosophila)
F11 coagulation factor XI
F11R F11 receptor
F12 coagulation factor XII (Hageman factor)
F2RL1 coagulation factor II (thrombin) receptor-like 1
F8 coagulation factor VIII, procoagulant component
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FBLN5 fibulin 5
FBN1 fibrillin 1
FCAR Fc fragment of IgA receptor
FCER1A Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide
FCN2 ficolin (collagen/fibrinogen domain containing lectin) 2
FERMT1 fermitin family member 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP4 FK506 binding protein 4, 59kDa
FLG filaggrin
FLNA filamin A, alpha
FMR1 fragile X mental retardation 1
FN1 fibronectin 1
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXO3 forkhead box O3
FOXP3 forkhead box P3
FOXP4 forkhead box P4
FPR2 formyl peptide receptor 2
FTL ferritin, light polypeptide
FUS FUS RNA binding protein
G6PC2 glucose-6-phosphatase, catalytic, 2
GAA glucosidase, alpha; acid
GAB2 GRB2-associated binding protein 2
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GALK1 galactokinase 1
GAMT guanidinoacetate N-methyltransferase
GARS glycyl-tRNA synthetase
GAS1 growth arrest-specific 1
GATA4 GATA binding protein 4
GBA glucosidase, beta, acid
GBP5 guanylate binding protein 5
GC group-specific component (vitamin D binding protein)
GCK glucokinase (hexokinase 4)
GDAP1 ganglioside induced differentiation associated protein 1
GDF10 growth differentiation factor 10
GIGYF2 GRB10 interacting GYF protein 2
GJA1 gap junction protein, alpha 1, 43kDa
GJB1 gap junction protein, beta 1, 32kDa
GJB2 gap junction protein, beta 2, 26kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB6 gap junction protein, beta 6, 30kDa
GLA galactosidase, alpha
GLS glutaminase
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPD1L glycerol-3-phosphate dehydrogenase 1-like
GRIN3A glutamate receptor, ionotropic, N-methyl-D-aspartate 3A
GRM3 glutamate receptor, metabotropic 3
GRN granulin
GSTM1 glutathione S-transferase mu 1
GSTT1 glutathione S-transferase theta 1
GUCA1B guanylate cyclase activator 1B (retina)
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4
HDAC1 histone deacetylase 1
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HIBCH 3-hydroxyisobutyryl-CoA hydrolase
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIST3H3 histone cluster 3, H3
HMGB1 high mobility group box 1
HNF1A HNF1 homeobox A
HNRNPA1 heterogeneous nuclear ribonucleoprotein A1
HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1
HR hair growth associated
HRAS Harvey rat sarcoma viral oncogene homolog
HRH4 histamine receptor H4
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HSD17B13 hydroxysteroid (17-beta) dehydrogenase 13
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
HSPA8 heat shock 70kDa protein 8
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HTATIP2 HIV-1 Tat interactive protein 2, 30kDa
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
HTRA2 HtrA serine peptidase 2
HTT huntingtin
ICAM1 intercellular adhesion molecule 1
IDE insulin-degrading enzyme
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IFI16 interferon, gamma-inducible protein 16
IFNA1 interferon, alpha 1
IFNA2 interferon, alpha 2
IFNG interferon, gamma
IGF1R insulin-like growth factor 1 receptor
IGKC immunoglobulin kappa constant
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL12B interleukin 12B
IL17A interleukin 17A
IL18 interleukin 18
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL21 interleukin 21
IL22 interleukin 22
IL23A interleukin 23, alpha subunit p19
IL23R interleukin 23 receptor
IL33 interleukin 33
IL36RN interleukin 36 receptor antagonist
IL4 interleukin 4
IL4R interleukin 4 receptor
IL6 interleukin 6
IL9 interleukin 9
IMPG1 interphotoreceptor matrix proteoglycan 1
INF2 inverted formin, FH2 and WH2 domain containing
INS insulin
IRF6 interferon regulatory factor 6
IRX1 iroquois homeobox 1
ITGAL integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITGB7 integrin, beta 7
ITM2B integral membrane protein 2B
JAK2 Janus kinase 2
JPH3 junctophilin 3
KCNA3 potassium channel, voltage gated shaker related subfamily A, member 3
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ16 potassium channel, inwardly rectifying subfamily J, member 16
KCNJ18 potassium channel, inwardly rectifying subfamily J, member 18
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KDM5C lysine (K)-specific demethylase 5C
KDR kinase insert domain receptor
KERA keratocan
KHK ketohexokinase (fructokinase)
KIAA0196 KIAA0196
KIAA2022 KIAA2022
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KL klotho
KLF11 Kruppel-like factor 11
KLLN killin, p53-regulated DNA replication inhibitor
KMT2A lysine (K)-specific methyltransferase 2A
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT5 keratin 5, type II
KRT8 keratin 8, type II
L1CAM L1 cell adhesion molecule
LAMA2 laminin, alpha 2
LAMB2 laminin, beta 2 (laminin S)
LAMC1 laminin, gamma 1 (formerly LAMB2)
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LEP leptin
LGALS7 lectin, galactoside-binding, soluble, 7
LGALS8 lectin, galactoside-binding, soluble, 8
LGI1 leucine-rich, glioma inactivated 1
LMAN1 lectin, mannose-binding, 1
LMF1 lipase maturation factor 1
LMNA lamin A/C
LMO2 LIM domain only 2 (rhombotin-like 1)
LMX1B LIM homeobox transcription factor 1, beta
LRP4 low density lipoprotein receptor-related protein 4
LRRK2 leucine-rich repeat kinase 2
LTBP2 latent transforming growth factor beta binding protein 2
LUM lumican
LYN LYN proto-oncogene, Src family tyrosine kinase
LYZ lysozyme
MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK3 mitogen-activated protein kinase 3
MAPRE3 microtubule-associated protein, RP/EB family, member 3
MAPT microtubule-associated protein tau
MARCH5 membrane-associated ring finger (C3HC4) 5
MARCKS myristoylated alanine-rich protein kinase C substrate
MARK2 MAP/microtubule affinity-regulating kinase 2
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MATR3 matrin 3
MBL2 mannose-binding lectin (protein C) 2, soluble
MBNL1 muscleblind-like splicing regulator 1
MC4R melanocortin 4 receptor
MCM3AP minichromosome maintenance complex component 3 associated protein
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MECP2 methyl CpG binding protein 2
MEF2D myocyte enhancer factor 2D
MEFV Mediterranean fever
MEGF10 multiple EGF-like-domains 10
MERTK MER proto-oncogene, tyrosine kinase
MET MET proto-oncogene, receptor tyrosine kinase
MFN2 mitofusin 2
MINK1 misshapen-like kinase 1
MIP major intrinsic protein of lens fiber
MIR1-1 microRNA 1-1
MIR205 microRNA 205
MIR21 microRNA 21
MKS1 Meckel syndrome, type 1
MLF1 myeloid leukemia factor 1
MLH1 mutL homolog 1
MMP1 matrix metallopeptidase 1
MMP12 matrix metallopeptidase 12
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MMP9 matrix metallopeptidase 9
MOG myelin oligodendrocyte glycoprotein
MPO myeloperoxidase
MPV17 MpV17 mitochondrial inner membrane protein
MRAP2 melanocortin 2 receptor accessory protein 2
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MSTN myostatin
MSX1 msh homeobox 1
MSX2 msh homeobox 2
MT-ATP6 ATP synthase F0 subunit 6
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-TA tRNA
MT-TF tRNA
MT-TH tRNA
MT-TI tRNA
MT-TK tRNA
MT-TL1 tRNA
MT-TS1 tRNA
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MUSK muscle, skeletal, receptor tyrosine kinase
MUTYH mutY homolog
MYBPC3 myosin binding protein C, cardiac
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYH11 myosin, heavy chain 11, smooth muscle
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYH9 myosin, heavy chain 9, non-muscle
MYO6 myosin VI
MYO7A myosin VIIA
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
MYOCD myocardin
NBN nibrin
NCAM1 neural cell adhesion molecule 1
NCSTN nicastrin
ND1
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NEK2 NIMA-related kinase 2
NF1 neurofibromin 1
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NGFR nerve growth factor receptor
NKX2-5 NK2 homeobox 5
NLRP3 NLR family, pyrin domain containing 3
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH3 notch 3
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR4A1 nuclear receptor subfamily 4, group A, member 1
NR4A2 nuclear receptor subfamily 4, group A, member 2
NR4A3 nuclear receptor subfamily 4, group A, member 3
NRXN1 neurexin 1
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
OCRL oculocerebrorenal syndrome of Lowe
OPA1 optic atrophy 1 (autosomal dominant)
OSMR oncostatin M receptor
OTOF otoferlin
PADI4 peptidyl arginine deiminase, type IV
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAH phenylalanine hydroxylase
PALB2 partner and localizer of BRCA2
PARK2 parkin RBR E3 ubiquitin protein ligase
PARK7 parkinson protein 7
PAX4 paired box 4
PAX6 paired box 6
PAX8 paired box 8
PCCA propionyl CoA carboxylase, alpha polypeptide
PCSK9 proprotein convertase subtilisin/kexin type 9
PCYT1B phosphate cytidylyltransferase 1, choline, beta
PDCD1 programmed cell death 1
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDK3 pyruvate dehydrogenase kinase, isozyme 3
PDYN prodynorphin
PER3 period circadian clock 3
PF4 platelet factor 4
PFDN2 prefoldin subunit 2
PFDN5 prefoldin subunit 5
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PINK1 PTEN induced putative kinase 1
PITX2 paired-like homeodomain 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKN1 protein kinase N1
PLG plasminogen
PLK1 polo-like kinase 1
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLS3 plastin 3
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POLG polymerase (DNA directed), gamma
PON1 paraoxonase 1
PON3 paraoxonase 3
POU2F1 POU class 2 homeobox 1
PPA2 pyrophosphatase (inorganic) 2
PPARD peroxisome proliferator-activated receptor delta
PPARG peroxisome proliferator-activated receptor gamma
PPP3CC protein phosphatase 3, catalytic subunit, gamma isozyme
PQBP1 polyglutamine binding protein 1
PRCD progressive rod-cone degeneration
PRKCA protein kinase C, alpha
PRKCB protein kinase C, beta
PRNP prion protein
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROCR protein C receptor, endothelial
PRPF31 pre-mRNA processing factor 31
PRPH2 peripherin 2 (retinal degeneration, slow)
PRX periaxin
PSEN1 presenilin 1
PSEN2 presenilin 2
PSENEN presenilin enhancer gamma secretase subunit
PSME3 proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)
PSORS1C1 psoriasis susceptibility 1 candidate 1
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTH parathyroid hormone
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTRF polymerase I and transcript release factor
PYGM phosphorylase, glycogen, muscle
QKI QKI, KH domain containing, RNA binding
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RASGRP4 RAS guanyl releasing protein 4
RB1 retinoblastoma 1
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RELN reelin
RHO rhodopsin
RIMS1 regulating synaptic membrane exocytosis 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNASE8 ribonuclease, RNase A family, 8
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RNR1 RNA, ribosomal cluster 1
RP1 retinitis pigmentosa 1 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPS15 ribosomal protein S15
RYR1 ryanodine receptor 1 (skeletal)
RYR2 ryanodine receptor 2 (cardiac)
S100A12 S100 calcium binding protein A12
SAA1 serum amyloid A1
SAA2 serum amyloid A2
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN1B sodium channel, voltage gated, type I beta subunit
SCN3B sodium channel, voltage gated, type III beta subunit
SCRIB scribbled planar cell polarity protein
SDC4 syndecan 4
SDHAF2 succinate dehydrogenase complex assembly factor 2
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SDK1 sidekick cell adhesion molecule 1
SEPN1 selenoprotein N, 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
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1
SFRP1 secreted frizzled-related protein 1
SH3GL1 SH3-domain GRB2-like 1
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SIM1 single-minded family bHLH transcription factor 1
SIRT2 sirtuin 2
SKP2 S-phase kinase-associated protein 2, E3 ubiquitin protein ligase
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC16A12 solute carrier family 16, member 12
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC25A5 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC45A2 solute carrier family 45, member 2
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC6A14 solute carrier family 6 (amino acid transporter), member 14
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMC1A structural maintenance of chromosomes 1A
SMN1 survival of motor neuron 1, telomeric
SNAP25 synaptosomal-associated protein, 25kDa
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SNCAIP synuclein, alpha interacting protein
SNCB synuclein, beta
SOCS1 suppressor of cytokine signaling 1
SOD1 superoxide dismutase 1, soluble
SORL1 sortilin-related receptor, L(DLR class) A repeats containing
SOX11 SRY (sex determining region Y)-box 11
SPA17 sperm autoantigenic protein 17
SPAG5 sperm associated antigen 5
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SPAST spastin
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPP1 secreted phosphoprotein 1
SPRED1 sprouty-related, EVH1 domain containing 1
SRF serum response factor (c-fos serum response element-binding transcription factor)
SRSF1 serine/arginine-rich splicing factor 1
SRSF7 serine/arginine-rich splicing factor 7
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STH saitohin
STK11 serine/threonine kinase 11
STX6 syntaxin 6
SUMO1 small ubiquitin-like modifier 1
SUOX sulfite oxidase
SURF1 surfeit 1
SYP synaptophysin
SYVN1 synovial apoptosis inhibitor 1, synoviolin
T T, brachyury homolog (mouse)
TACR3 tachykinin receptor 3
TARDBP TAR DNA binding protein
TBC1D24 TBC1 domain family, member 24
TBL1X transducin (beta)-like 1X-linked
TBP TATA box binding protein
TBX21 T-box 21
TBX4 T-box 4
TCAP titin-cap
TCOF1 Treacher Collins-Franceschetti syndrome 1
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFRC transferrin receptor
TGFB1 transforming growth factor, beta 1
TGFB1I1 transforming growth factor beta 1 induced transcript 1
TGFBI transforming growth factor, beta-induced, 68kDa
TGM1 transglutaminase 1
TGM2 transglutaminase 2
THAP1 THAP domain containing, apoptosis associated protein 1
THRB thyroid hormone receptor, beta
TIMP1 TIMP metallopeptidase inhibitor 1
TJP1 tight junction protein 1
TK2 thymidine kinase 2, mitochondrial
TLR1 toll-like receptor 1
TLR10 toll-like receptor 10
TLR2 toll-like receptor 2
TLR3 toll-like receptor 3
TLR4 toll-like receptor 4
TLR5 toll-like receptor 5
TLR6 toll-like receptor 6
TLR7 toll-like receptor 7
TLR8 toll-like receptor 8
TLR9 toll-like receptor 9
TMEM106B transmembrane protein 106B
TMEM173 transmembrane protein 173
TMEM43 transmembrane protein 43
TMEM67 transmembrane protein 67
TMPRSS13 transmembrane protease, serine 13
TMPRSS3 transmembrane protease, serine 3
TNC tenascin C
TNF tumor necrosis factor
TNFRSF14 tumor necrosis factor receptor superfamily, member 14
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNFRSF6B tumor necrosis factor receptor superfamily, member 6b, decoy
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TNFSF13 tumor necrosis factor (ligand) superfamily, member 13
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b
TNFSF14 tumor necrosis factor (ligand) superfamily, member 14
TNFSF15 tumor necrosis factor (ligand) superfamily, member 15
TNNI2 troponin I type 2 (skeletal, fast)
TOP1 topoisomerase (DNA) I
TOR1A torsin family 1, member A (torsin A)
TP53 tumor protein p53
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TPRN taperin
TREM2 triggering receptor expressed on myeloid cells 2
TRIM21 tripartite motif containing 21
TRIM25 tripartite motif containing 25
TSC2 tuberous sclerosis 2
TSLP thymic stromal lymphopoietin
TTC21B tetratricopeptide repeat domain 21B
TTR transthyretin
TULP1 tubby like protein 1
TWIST1 twist family bHLH transcription factor 1
TYK2 tyrosine kinase 2
TYMP thymidine phosphorylase
TYROBP TYRO protein tyrosine kinase binding protein
UBB ubiquitin B
UBE2I ubiquitin-conjugating enzyme E2I
UBQLN2 ubiquilin 2
UBR5 ubiquitin protein ligase E3 component n-recognin 5
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VANGL2 VANGL planar cell polarity protein 2
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
VAT1 vesicle amine transport 1
VCAN versican
VCP valosin containing protein
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VEGFC vascular endothelial growth factor C
VIPR2 vasoactive intestinal peptide receptor 2
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS35 vacuolar protein sorting 35 homolog (S. cerevisiae)
VSX1 visual system homeobox 1
VTN vitronectin
VWF von Willebrand factor
WDR35 WD repeat domain 35
WDR76 WD repeat domain 76
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT10A wingless-type MMTV integration site family, member 10A
WNT11 wingless-type MMTV integration site family, member 11
WNT9B wingless-type MMTV integration site family, member 9B
XBP1 X-box binding protein 1
XPC xeroderma pigmentosum, complementation group C
XYLT1 xylosyltransferase I
YES1 YES proto-oncogene 1, Src family tyrosine kinase
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZEB1 zinc finger E-box binding homeobox 1
ZEB2 zinc finger E-box binding homeobox 2
ZG16 zymogen granule protein 16
ZG16B zymogen granule protein 16B
ZNF239 zinc finger protein 239
ZNF469 zinc finger protein 469