congenital Gene Set

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

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

Symbol Name
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
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABI1 abl-interactor 1
ACD adrenocortical dysplasia homolog (mouse)
ACE angiotensin I converting enzyme
ACE2 angiotensin I converting enzyme 2
ACTA1 actin, alpha 1, skeletal muscle
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTC1 actin, alpha, cardiac muscle 1
ACTG2 actin, gamma 2, smooth muscle, enteric
ACTN4 actinin, alpha 4
ACVR1 activin A receptor, type I
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADIPOQ adiponectin, C1Q and collagen domain containing
AGA aspartylglucosaminidase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGRN agrin
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AGTR2 angiotensin II receptor, type 2
AHI1 Abelson helper integration site 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALAS2 5'-aminolevulinate synthase 2
ALB albumin
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG11 ALG11, alpha-1,2-mannosyltransferase
ALG12 ALG12, alpha-1,6-mannosyltransferase
ALG14 ALG14, UDP-N-acetylglucosaminyltransferase subunit
ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALG6 ALG6, alpha-1,3-glucosyltransferase
ALG8 ALG8, alpha-1,3-glucosyltransferase
ALK anaplastic lymphoma receptor tyrosine kinase
ALMS1 Alstrom syndrome protein 1
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
ANGPT2 angiopoietin 2
ANKRD1 ankyrin repeat domain 1 (cardiac muscle)
ANOS1 anosmin 1
APP amyloid beta (A4) precursor protein
AQP2 aquaporin 2 (collecting duct)
AR androgen receptor
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
AVPR2 arginine vasopressin receptor 2
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALTL beta 1,3-galactosyltransferase-like
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BBS4 Bardet-Biedl syndrome 4
BCL2 B-cell CLL/lymphoma 2
BDNF brain-derived neurotrophic factor
BFSP1 beaded filament structural protein 1, filensin
BFSP2 beaded filament structural protein 2, phakinin
BHLHE23 basic helix-loop-helix family, member e23
BICD2 bicaudal D homolog 2 (Drosophila)
BIRC5 baculoviral IAP repeat containing 5
BMP4 bone morphogenetic protein 4
BMP6 bone morphogenetic protein 6
BMPR1A bone morphogenetic protein receptor, type IA
BRAF B-Raf proto-oncogene, serine/threonine kinase
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BTK Bruton agammaglobulinemia tyrosine kinase
C4A complement component 4A (Rodgers blood group)
C4B complement component 4B (Chido blood group)
CA8 carbonic anhydrase VIII
CABP4 calcium binding protein 4
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CALR calreticulin
CAMP cathelicidin antimicrobial peptide
CAPN3 calpain 3, (p94)
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CBX5 chromobox homolog 5
CCDC78 coiled-coil domain containing 78
CCDC88C coiled-coil domain containing 88C
CCNO cyclin O
CDAN1 codanin 1
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDKL5 cyclin-dependent kinase-like 5
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CEP290 centrosomal protein 290kDa
CERS3 ceramide synthase 3
CFC1 cripto, FRL-1, cryptic family 1
CFL2 cofilin 2 (muscle)
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CGB chorionic gonadotropin, beta polypeptide
CHD1L chromodomain helicase DNA binding protein 1-like
CHD7 chromodomain helicase DNA binding protein 7
CHED1 corneal endothelial dystrophy 1 (autosomal dominant)
CHKB choline kinase beta
CHM choroideremia (Rab escort protein 1)
CHN1 chimerin 1
CHRM3 cholinergic receptor, muscarinic 3
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLMP CXADR-like membrane protein
CLPB ClpB homolog, mitochondrial AAA ATPase chaperonin
CMD1B cardiomyopathy, dilated 1B (autosomal dominant)
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB3 cyclic nucleotide gated channel beta 3
CNTN1 contactin 1
COG4 component of oligomeric golgi complex 4
COG6 component of oligomeric golgi complex 6
COG7 component of oligomeric golgi complex 7
COL1A1 collagen, type I, alpha 1
COL25A1 collagen, type XXV, alpha 1
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COL9A1 collagen, type IX, alpha 1
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRB2 crumbs family member 2
CRELD1 cysteine-rich with EGF-like domains 1
CRP C-reactive protein, pentraxin-related
CRX cone-rod homeobox
CRYAA crystallin, alpha A
CRYAB crystallin, alpha B
CRYBA1 crystallin, beta A1
CRYBB1 crystallin, beta B1
CRYBB2 crystallin, beta B2
CRYBB3 crystallin, beta B3
CRYGB crystallin, gamma B
CRYGC crystallin, gamma C
CRYGD crystallin, gamma D
CRYGS crystallin, gamma S
CSF3R colony stimulating factor 3 receptor (granulocyte)
CST3 cystatin C
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTF1 cardiotrophin 1
CUBN cubilin (intrinsic factor-cobalamin receptor)
CYB5R3 cytochrome b5 reductase 3
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
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
CYP21A1P cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DCC DCC netrin 1 receptor
DCN decorin
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DEL9P Chromosome 9p deletion syndrome
DFNA52 deafness, autosomal dominant 52
DFNB59 deafness, autosomal recessive 59
DGAT1 diacylglycerol O-acyltransferase 1
DISP1 dispatched homolog 1 (Drosophila)
DLC1 DLC1 Rho GTPase activating protein
DLL3 delta-like 3 (Drosophila)
DMBX1 diencephalon/mesencephalon homeobox 1
DMPK dystrophia myotonica-protein kinase
DNM2 dynamin 2
DOK7 docking protein 7
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DSTYK dual serine/threonine and tyrosine protein kinase
DTNA dystrobrevin, alpha
DUOX2 dual oxidase 2
DUOXA2 dual oxidase maturation factor 2
DYNC1I1 dynein, cytoplasmic 1, intermediate chain 1
DYSF dysferlin
ECE1 endothelin converting enzyme 1
ECEL1 endothelin converting enzyme-like 1
EDA ectodysplasin A
EDN1 endothelin 1
EDNRA endothelin receptor type A
EDNRB endothelin receptor type B
EFNB1 ephrin-B1
EFNB2 ephrin-B2
EGF epidermal growth factor
EGFR epidermal growth factor receptor
ELANE elastase, neutrophil expressed
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
EML4 echinoderm microtubule associated protein like 4
ENO2 enolase 2 (gamma, neuronal)
EP300 E1A binding protein p300
EPAS1 endothelial PAS domain protein 1
EPCAM epithelial cell adhesion molecule
EPHA2 EPH receptor A2
EPHB2 EPH receptor B2
EPO erythropoietin
EPOR erythropoietin receptor
ERAP1 endoplasmic reticulum aminopeptidase 1
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB3 erb-b2 receptor tyrosine kinase 3
ERBB4 erb-b2 receptor tyrosine kinase 4
ESPN espin
EYA1 EYA transcriptional coactivator and phosphatase 1
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
F5 coagulation factor V (proaccelerin, labile factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
F8 coagulation factor VIII, procoagulant component
FABP3 fatty acid binding protein 3, muscle and heart
FAM126A family with sequence similarity 126, member A
FANCD2 Fanconi anemia, complementation group D2
FBN1 fibrillin 1
FBN2 fibrillin 2
FGA fibrinogen alpha chain
FGF10 fibroblast growth factor 10
FGF13 fibroblast growth factor 13
FGF17 fibroblast growth factor 17
FGF2 fibroblast growth factor 2 (basic)
FGF3 fibroblast growth factor 3
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FGG fibrinogen gamma chain
FHL1 four and a half LIM domains 1
FKRP fukutin related protein
FKTN fukutin
FLNA filamin A, alpha
FLT1 fms-related tyrosine kinase 1
FLT4 fms-related tyrosine kinase 4
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXC1 forkhead box C1
FOXE1 forkhead box E1
FOXE3 forkhead box E3
FOXG1 forkhead box G1
FOXN1 forkhead box N1
FOXP1 forkhead box P1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FRMD7 FERM domain containing 7
FTH1 ferritin, heavy polypeptide 1
FYCO1 FYVE and coiled-coil domain containing 1
FZD3 frizzled class receptor 3
G6PC3 glucose 6 phosphatase, catalytic, 3
G6PD glucose-6-phosphate dehydrogenase
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GALK1 galactokinase 1
GALT galactose-1-phosphate uridylyltransferase
GANC glucosidase, alpha; neutral C
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA3 GATA binding protein 3
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GATA6 GATA binding protein 6
GCK glucokinase (hexokinase 4)
GCM2 glial cells missing homolog 2 (Drosophila)
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
GDF1 growth differentiation factor 1
GDF5 growth differentiation factor 5
GFAP glial fibrillary acidic protein
GH1 growth hormone 1
GHR growth hormone receptor
GHRHR growth hormone releasing hormone receptor
GHRL ghrelin/obestatin prepropeptide
GIF gastric intrinsic factor (vitamin B synthesis)
GIPC3 GIPC PDZ domain containing family, member 3
GJA1 gap junction protein, alpha 1, 43kDa
GJA3 gap junction protein, alpha 3, 46kDa
GJA5 gap junction protein, alpha 5, 40kDa
GJA8 gap junction protein, alpha 8, 50kDa
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GLC3C glaucoma 3, primary congenital, C
GLE1 GLE1 RNA export mediator
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GLUD1 glutamate dehydrogenase 1
GMPPB GDP-mannose pyrophosphorylase B
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GNRHR gonadotropin-releasing hormone receptor
GPI glucose-6-phosphate isomerase
GPR143 G protein-coupled receptor 143
GPR179 G protein-coupled receptor 179
GRM6 glutamate receptor, metabotropic 6
GSTA1 glutathione S-transferase alpha 1
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HADH hydroxyacyl-CoA dehydrogenase
HAND1 heart and neural crest derivatives expressed 1
HAX1 HCLS1 associated protein X-1
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HLA-B major histocompatibility complex, class I, B
HLA-G major histocompatibility complex, class I, G
HMOX1 heme oxygenase 1
HMX2 H6 family homeobox 2
HMX3 H6 family homeobox 3
HNF1B HNF1 homeobox B
HNF4A hepatocyte nuclear factor 4, alpha
HOXA10 homeobox A10
HOXA11 homeobox A11
HOXC5 homeobox C5
HOXC9 homeobox C9
HOXD10 homeobox D10
HOXD11 homeobox D11
HOXD12 homeobox D12
HOXD13 homeobox D13
HP haptoglobin
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HR hair growth associated
HRAS Harvey rat sarcoma viral oncogene homolog
HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
HSF4 heat shock transcription factor 4
HTR4 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled
ICAM1 intercellular adhesion molecule 1
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF2 insulin-like growth factor 2
IGFALS insulin-like growth factor binding protein, acid labile subunit
IGFBP3 insulin-like growth factor binding protein 3
IHH indian hedgehog
IL17RD interleukin 17 receptor D
IL6 interleukin 6
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
INSL3 insulin-like 3 (Leydig cell)
IQCB1 IQ motif containing B1
IRAK4 interleukin-1 receptor-associated kinase 4
IRX4 iroquois homeobox 4
ISL1 ISL LIM homeobox 1
ISPD isoprenoid synthase domain containing
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
ITGA7 integrin, alpha 7
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
IYD iodotyrosine deiodinase
JAG1 jagged 1
JARID2 jumonji, AT rich interactive domain 2
KANK1 KN motif and ankyrin repeat domains 1
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
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
KIF21A kinesin family member 21A
KIF23 kinesin family member 23
KISS1R KISS1 receptor
KMT2A lysine (K)-specific methyltransferase 2A
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT1 keratin 1, type II
KRT10 keratin 10, type I
KRT20 keratin 20, type I
KRT86 keratin 86, type II
LAMA2 laminin, alpha 2
LAMB2 laminin, beta 2 (laminin S)
LBH limb bud and heart development
LCA5 Leber congenital amaurosis 5
LCT lactase
LEF1 lymphoid enhancer-binding factor 1
LEP leptin
LEPR leptin receptor
LHX1 LIM homeobox 1
LHX4 LIM homeobox 4
LIM2 lens intrinsic membrane protein 2, 19kDa
LMNA lamin A/C
LOXHD1 lipoxygenase homology domains 1
LPA lipoprotein, Lp(a)
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
LTBP1 latent transforming growth factor beta binding protein 1
LTBP2 latent transforming growth factor beta binding protein 2
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MAMLD1 mastermind-like domain containing 1
MAN1B1 mannosidase, alpha, class 1B, member 1
MAPT microtubule-associated protein tau
MASTL microtubule associated serine/threonine kinase-like
MBNL1 muscleblind-like splicing regulator 1
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MECP2 methyl CpG binding protein 2
MEGF10 multiple EGF-like-domains 10
MESP1 mesoderm posterior basic helix-loop-helix transcription factor 1
MIP major intrinsic protein of lens fiber
MIR10A microRNA 10a
MIR10B microRNA 10b
MIR143 microRNA 143
MIR218-1 microRNA 218-1
MIR34B microRNA 34b
MMP1 matrix metallopeptidase 1
MMP3 matrix metallopeptidase 3
MOGS mannosyl-oligosaccharide glucosidase
MPDZ multiple PDZ domain protein
MPL MPL proto-oncogene, thrombopoietin receptor
MPZ myelin protein zero
MSTN myostatin
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTM1 myotubularin 1
MTMR1 myotubularin related protein 1
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MUC5AC mucin 5AC, oligomeric mucus/gel-forming
MUSK muscle, skeletal, receptor tyrosine kinase
MYBPC1 myosin binding protein C, slow type
MYD88 myeloid differentiation primary response 88
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYH7B myosin, heavy chain 7B, cardiac muscle, beta
MYO7A myosin VIIA
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
NEB nebulin
NEFL neurofilament, light polypeptide
NEUROG1 neurogenin 1
NEUROG3 neurogenin 3
NF1 neurofibromin 1
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NIPAL4 NIPA-like domain containing 4
NIPBL Nipped-B homolog (Drosophila)
NKX2-1 NK2 homeobox 1
NKX2-5 NK2 homeobox 5
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NODAL nodal growth differentiation factor
NOG noggin
NOS2 nitric oxide synthase 2, inducible
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
NPPA natriuretic peptide A
NPPB natriuretic peptide B
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRL neural retina leucine zipper
NTN1 netrin 1
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NUB1 negative regulator of ubiquitin-like proteins 1
NXNL1 nucleoredoxin-like 1
NYX nyctalopin
OFD1 oral-facial-digital syndrome 1
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
ORAI1 ORAI calcium release-activated calcium modulator 1
OTX2 orthodenticle homeobox 2
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
PAX2 paired box 2
PAX6 paired box 6
PAX8 paired box 8
PAX9 paired box 9
PBX3 pre-B-cell leukemia homeobox 3
PCNT pericentrin
PDC phosducin
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1
PGAP3 post-GPI attachment to proteins 3
PGM1 phosphoglucomutase 1
PHOX2A paired-like homeobox 2a
PHOX2B paired-like homeobox 2b
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PITX2 paired-like homeodomain 2
PITX3 paired-like homeodomain 3
PKLR pyruvate kinase, liver and RBC
PKP2 plakophilin 2
PLAGL1 pleiomorphic adenoma gene-like 1
PLEC plectin
PLG plasminogen
PLN phospholamban
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLXNA2 plexin A2
PMM1 phosphomannomutase 1
PMM2 phosphomannomutase 2
PNLIP pancreatic lipase
PNPLA1 patatin-like phospholipase domain containing 1
POMC proopiomelanocortin
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMK protein-O-mannose kinase
POMT2 protein-O-mannosyltransferase 2
POR P450 (cytochrome) oxidoreductase
POU3F4 POU class 3 homeobox 4
PRKCA protein kinase C, alpha
PRL prolactin
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PTCH2 patched 2
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PXDN peroxidasin
RAD51 RAD51 recombinase
RAPSN receptor-associated protein of the synapse
RBM10 RNA binding motif protein 10
RD3 retinal degeneration 3
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RET ret proto-oncogene
RFT1 RFT1 homolog (S. cerevisiae)
RGS6 regulator of G-protein signaling 6
RHO rhodopsin
RIPK3 receptor-interacting serine-threonine kinase 3
RNASEH2B ribonuclease H2, subunit B
RP1 retinitis pigmentosa 1 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RS1 retinoschisin 1
RSPO1 R-spondin 1
RSPO4 R-spondin 4
RUNX1 runt-related transcription factor 1
RYR1 ryanodine receptor 1 (skeletal)
SCN11A sodium channel, voltage gated, type XI alpha subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SEC23A Sec23 homolog A (S. cerevisiae)
SEC23B Sec23 homolog B (S. cerevisiae)
SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
SENP2 SUMO1/sentrin/SMT3 specific peptidase 2
SERPINB2 serpin peptidase inhibitor, clade B (ovalbumin), member 2
SFTPB surfactant protein B
SHH sonic hedgehog
SHOX short stature homeobox
SI sucrase-isomaltase (alpha-glucosidase)
SIM2 single-minded family bHLH transcription factor 2
SIX2 SIX homeobox 2
SIX6 SIX homeobox 6
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC24A1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
SLC25A38 solute carrier family 25, member 38
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC4A11 solute carrier family 4, sodium borate transporter, member 11
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5
SLC9A3 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3
SLC9A8 solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8
SLN sarcolipin
SMAD2 SMAD family member 2
SMAD6 SMAD family member 6
SMAD7 SMAD family member 7
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMG8 SMG8 nonsense mediated mRNA decay factor
SMN2 survival of motor neuron 2, centromeric
SNTB2 syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)
SOX10 SRY (sex determining region Y)-box 10
SOX17 SRY (sex determining region Y)-box 17
SOX3 SRY (sex determining region Y)-box 3
SPAST spastin
SPATA7 spermatogenesis associated 7
SPINK5 serine peptidase inhibitor, Kazal type 5
SPINT2 serine peptidase inhibitor, Kunitz type, 2
SRD5A3 steroid 5 alpha-reductase 3
SSPN sarcospan
ST14 suppression of tumorigenicity 14 (colon carcinoma)
STAR steroidogenic acute regulatory protein
STIL SCL/TAL1 interrupting locus
STIM1 stromal interaction molecule 1
STRA6 stimulated by retinoic acid 6
STT3A STT3A, subunit of the oligosaccharyltransferase complex (catalytic)
STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
SUCLG1 succinate-CoA ligase, alpha subunit
TBX19 T-box 19
TBX2 T-box 2
TBX20 T-box 20
TBX4 T-box 4
TBX5 T-box 5
TBX6 T-box 6
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TFRC transferrin receptor
TG thyroglobulin
TGFB1 transforming growth factor, beta 1
TGM1 transglutaminase 1
THBD thrombomodulin
THPO thrombopoietin
THRB thyroid hormone receptor, beta
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP2 TIMP metallopeptidase inhibitor 2
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TLL1 tolloid-like 1
TLR2 toll-like receptor 2
TLR3 toll-like receptor 3
TLR7 toll-like receptor 7
TLX3 T-cell leukemia homeobox 3
TMEM121 transmembrane protein 121
TMEM165 transmembrane protein 165
TMPRSS3 transmembrane protease, serine 3
TNF tumor necrosis factor
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TNXB tenascin XB
TP53 tumor protein p53
TP63 tumor protein p63
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TPO thyroid peroxidase
TREX1 three prime repair exonuclease 1
TRIM11 tripartite motif containing 11
TRIM21 tripartite motif containing 21
TROVE2 TROVE domain family, member 2
TRPM1 transient receptor potential cation channel, subfamily M, member 1
TRPM8 transient receptor potential cation channel, subfamily M, member 8
TRPS1 trichorhinophalangeal syndrome I
TRPV2 transient receptor potential cation channel, subfamily V, member 2
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSHB thyroid stimulating hormone, beta
TSHR thyroid stimulating hormone receptor
TSHZ1 teashirt zinc finger homeobox 1
TUBB1 tubulin, beta 1 class VI
TUBB2B tubulin, beta 2B class IIb
TUBB3 tubulin, beta 3 class III
TULP1 tubby like protein 1
TYMS thymidylate synthetase
TYR tyrosinase
UBD ubiquitin D
UMOD uromodulin
UNC93B1 unc-93 homolog B1 (C. elegans)
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH2A Usher syndrome 2A (autosomal recessive, mild)
UTS2 urotensin 2
VCAM1 vascular cell adhesion molecule 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VSX2 visual system homeobox 2
VWF von Willebrand factor
WAS Wiskott-Aldrich syndrome
WDR36 WD repeat domain 36
WNT3A wingless-type MMTV integration site family, member 3A
WNT7A wingless-type MMTV integration site family, member 7A
WT1 Wilms tumor 1
ZEB2 zinc finger E-box binding homeobox 2
ZFHX4 zinc finger homeobox 4
ZIC3 Zic family member 3