defect Gene Set

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

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

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8
ACE angiotensin I converting enzyme
ACTC1 actin, alpha, cardiac muscle 1
ACVR1 activin A receptor, type I
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADIPOQ adiponectin, C1Q and collagen domain containing
AGFG1 ArfGAP with FG repeats 1
AGPS alkylglycerone phosphate synthase
AIRE autoimmune regulator
AKT2 v-akt murine thymoma viral oncogene homolog 2
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALG3 ALG3, alpha-1,3- mannosyltransferase
AMELX amelogenin, X-linked
ANKRD1 ankyrin repeat domain 1 (cardiac muscle)
ANO10 anoctamin 10
ANTXR1 anthrax toxin receptor 1
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
APOA1 apolipoprotein A-I
APP amyloid beta (A4) precursor protein
AQP2 aquaporin 2 (collecting duct)
AQP7 aquaporin 7
AR androgen receptor
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ATM ATM serine/threonine kinase
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
ATXN3 ataxin 3
AVP arginine vasopressin
BCL2 B-cell CLL/lymphoma 2
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BDNF brain-derived neurotrophic factor
BIRC5 baculoviral IAP repeat containing 5
BLM Bloom syndrome, RecQ helicase-like
BLMH bleomycin hydrolase
BMP5 bone morphogenetic protein 5
BMP7 bone morphogenetic protein 7
BMPR1A bone morphogenetic protein receptor, type IA
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BTG3 BTG family, member 3
BTK Bruton agammaglobulinemia tyrosine kinase
BUB3 BUB3 mitotic checkpoint protein
C10ORF2 chromosome 10 open reading frame 2
C6 complement component 6
C7 complement component 7
CAMK2G calcium/calmodulin-dependent protein kinase II gamma
CASP8 caspase 8, apoptosis-related cysteine peptidase
CBX3 chromobox homolog 3
CCDC39 coiled-coil domain containing 39
CCDC40 coiled-coil domain containing 40
CCNA2 cyclin A2
CCR7 chemokine (C-C motif) receptor 7
CD151 CD151 molecule (Raph blood group)
CD19 CD19 molecule
CD22 CD22 molecule
CD247 CD247 molecule
CD274 CD274 molecule
CD28 CD28 molecule
CD320 CD320 molecule
CD3D CD3d molecule, delta (CD3-TCR complex)
CD40 CD40 molecule, TNF receptor superfamily member 5
CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group)
CD59 CD59 molecule, complement regulatory protein
CD70 CD70 molecule
CD81 CD81 molecule
CD86 CD86 molecule
CDK2 cyclin-dependent kinase 2
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDSN corneodesmosin
CFH complement factor H
CFI complement factor I
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHEK1 checkpoint kinase 1
CHEK2 checkpoint kinase 2
CHRM3 cholinergic receptor, muscarinic 3
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHUK conserved helix-loop-helix ubiquitous kinase
CIITA class II, major histocompatibility complex, transactivator
CISD2 CDGSH iron sulfur domain 2
CISH cytokine inducible SH2-containing protein
CLCA1 chloride channel accessory 1
CLCA4 chloride channel accessory 4
CLN3 ceroid-lipofuscinosis, neuronal 3
CNBP CCHC-type zinc finger, nucleic acid binding protein
CNOT8 CCR4-NOT transcription complex, subunit 8
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL1A1 collagen, type I, alpha 1
COL4A5 collagen, type IV, alpha 5
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL6A1 collagen, type VI, alpha 1
COL8A2 collagen, type VIII, alpha 2
CORO1A coronin, actin binding protein, 1A
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
CPSF4 cleavage and polyadenylation specific factor 4, 30kDa
CREBBP CREB binding protein
CRELD1 cysteine-rich with EGF-like domains 1
CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
CTNS cystinosin, lysosomal cystine transporter
CTSH cathepsin H
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP2J2 cytochrome P450, family 2, subfamily J, polypeptide 2
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DAPK2 death-associated protein kinase 2
DCC DCC netrin 1 receptor
DCX doublecortin
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DEFB103B defensin, beta 103B
DHCR7 7-dehydrocholesterol reductase
DKC1 dyskeratosis congenita 1, dyskerin
DLG1 discs, large homolog 1 (Drosophila)
DLL1 delta-like 1 (Drosophila)
DLX3 distal-less homeobox 3
DMD dystrophin
DNM1L dynamin 1-like
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOLK dolichol kinase
DPCD deleted in primary ciliary dyskinesia homolog (mouse)
DPY19L2 dpy-19-like 2 (C. elegans)
DPYSL2 dihydropyrimidinase-like 2
DSG1 desmoglein 1
DST dystonin
DTNBP1 dystrobrevin binding protein 1
DUOX2 dual oxidase 2
EDA ectodysplasin A
EDN1 endothelin 1
EFNA2 ephrin-A2
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EGR1 early growth response 1
ELAC2 elaC ribonuclease Z 2
ELN elastin
EN2 engrailed homeobox 2
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
ERBB2 erb-b2 receptor tyrosine kinase 2
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
ERCC6 excision repair cross-complementation group 6
EXT2 exostosin glycosyltransferase 2
F10 coagulation factor X
F11 coagulation factor XI
F2 coagulation factor II (thrombin)
F3 coagulation factor III (thromboplastin, tissue factor)
F5 coagulation factor V (proaccelerin, labile factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
F8 coagulation factor VIII, procoagulant component
F9 coagulation factor IX
FANCA Fanconi anemia, complementation group A
FANCD2 Fanconi anemia, complementation group D2
FBN1 fibrillin 1
FBXO6 F-box protein 6
FEM1A fem-1 homolog a (C. elegans)
FERMT3 fermitin family member 3
FGF23 fibroblast growth factor 23
FGF7 fibroblast growth factor 7
FGFR2 fibroblast growth factor receptor 2
FGG fibrinogen gamma chain
FH fumarate hydratase
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP1B FK506 binding protein 1B, 12.6 kDa
FKRP fukutin related protein
FLG filaggrin
FLT1 fms-related tyrosine kinase 1
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FMR1 fragile X mental retardation 1
FNBP1L formin binding protein 1-like
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1
FOLR1 folate receptor 1 (adult)
FOXC2 forkhead box C2
FSHMD1A facioscapulohumeral muscular dystrophy 1A
FTO fat mass and obesity associated
FXN frataxin
G6PC3 glucose 6 phosphatase, catalytic, 3
G6PD glucose-6-phosphate dehydrogenase
GAA glucosidase, alpha; acid
GAB1 GRB2-associated binding protein 1
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GABRE gamma-aminobutyric acid (GABA) A receptor, epsilon
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GARS glycyl-tRNA synthetase
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GATA6 GATA binding protein 6
GBA glucosidase, beta, acid
GCG glucagon
GCLM glutamate-cysteine ligase, modifier subunit
GCM2 glial cells missing homolog 2 (Drosophila)
GFER growth factor, augmenter of liver regeneration
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GH1 growth hormone 1
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GJA8 gap junction protein, alpha 8, 50kDa
GJB2 gap junction protein, beta 2, 26kDa
GLUL glutamate-ammonia ligase
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GP6 glycoprotein VI (platelet)
GPI glucose-6-phosphate isomerase
GRHPR glyoxylate reductase/hydroxypyruvate reductase
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRM1 glutamate receptor, metabotropic 1
GRM3 glutamate receptor, metabotropic 3
GSTP1 glutathione S-transferase pi 1
HAVCR2 hepatitis A virus cellular receptor 2
HBA2 hemoglobin, alpha 2
HCK HCK proto-oncogene, Src family tyrosine kinase
HDAC7 histone deacetylase 7
HEXA hexosaminidase A (alpha polypeptide)
HFE hemochromatosis
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HMBS hydroxymethylbilane synthase
HMGA1 high mobility group AT-hook 1
HMGB1 high mobility group box 1
HMOX1 heme oxygenase 1
HNF1B HNF1 homeobox B
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like
HORMAD1 HORMA domain containing 1
HPRT1 hypoxanthine phosphoribosyltransferase 1
HPX hemopexin
HRNR hornerin
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
HSPA4L heat shock 70kDa protein 4-like
HTT huntingtin
ICAM1 intercellular adhesion molecule 1
ICOSLG inducible T-cell co-stimulator ligand
IDE insulin-degrading enzyme
IFNB1 interferon, beta 1, fibroblast
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IGF2R insulin-like growth factor 2 receptor
IGFBP3 insulin-like growth factor binding protein 3
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IL10 interleukin 10
IL10RA interleukin 10 receptor, alpha
IL11 interleukin 11
IL17A interleukin 17A
IL18 interleukin 18
IL18RAP interleukin 18 receptor accessory protein
IL1A interleukin 1, alpha
IL1R2 interleukin 1 receptor, type II
IL22 interleukin 22
IL7R interleukin 7 receptor
INPP5B inositol polyphosphate-5-phosphatase, 75kDa
INS insulin
IRAK4 interleukin-1 receptor-associated kinase 4
IRF3 interferon regulatory factor 3
IRX4 iroquois homeobox 4
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGAV integrin, alpha V
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
IYD iodotyrosine deiodinase
JAK1 Janus kinase 1
JAK2 Janus kinase 2
JAK3 Janus kinase 3
KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KDR kinase insert domain receptor
KIF21A kinesin family member 21A
KLF1 Kruppel-like factor 1 (erythroid)
KLK4 kallikrein-related peptidase 4
KLRK1 killer cell lectin-like receptor subfamily K, member 1
KMT2A lysine (K)-specific methyltransferase 2A
KRT1 keratin 1, type II
LAMA5 laminin, alpha 5
LAMB1 laminin, beta 1
LAMC1 laminin, gamma 1 (formerly LAMB2)
LAMP1 lysosomal-associated membrane protein 1
LAMP3 lysosomal-associated membrane protein 3
LARGE like-glycosyltransferase
LDLR low density lipoprotein receptor
LEP leptin
LEPR leptin receptor
LIF leukemia inhibitory factor
LIG4 ligase IV, DNA, ATP-dependent
LIPH lipase, member H
LMBRD1 LMBR1 domain containing 1
LMNA lamin A/C
LMO2 LIM domain only 2 (rhombotin-like 1)
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRP1 low density lipoprotein receptor-related protein 1
LRP2 low density lipoprotein receptor-related protein 2
MAD2L1 MAD2 mitotic arrest deficient-like 1 (yeast)
MAGEA11 melanoma antigen family A11
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAP3K3 mitogen-activated protein kinase kinase kinase 3
MAPK1 mitogen-activated protein kinase 1
MAPT microtubule-associated protein tau
MCFD2 multiple coagulation factor deficiency 2
MEFV Mediterranean fever
MGMT O-6-methylguanine-DNA methyltransferase
MIR155 microRNA 155
MIR34B microRNA 34b
MIR34C microRNA 34c
MKI67 marker of proliferation Ki-67
MLPH melanophilin
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MMP2 matrix metallopeptidase 2
MMP20 matrix metallopeptidase 20
MMP9 matrix metallopeptidase 9
MOSPD3 motile sperm domain containing 3
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-TL1 tRNA
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MUC5AC mucin 5AC, oligomeric mucus/gel-forming
MUC5B mucin 5B, oligomeric mucus/gel-forming
MUTYH mutY homolog
MYB v-myb avian myeloblastosis viral oncogene homolog
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYD88 myeloid differentiation primary response 88
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYH9 myosin, heavy chain 9, non-muscle
MYO5A myosin VA (heavy chain 12, myoxin)
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
MYOCD myocardin
N6AMT1 N-6 adenine-specific DNA methyltransferase 1 (putative)
NADK2 NAD kinase 2, mitochondrial
NAPSA napsin A aspartic peptidase
NBN nibrin
NCR1 natural cytotoxicity triggering receptor 1
NCR3 natural cytotoxicity triggering receptor 3
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NEU1 sialidase 1 (lysosomal sialidase)
NF2 neurofibromin 2 (merlin)
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NHEJ1 nonhomologous end-joining factor 1
NKX2-5 NK2 homeobox 5
NLGN4X neuroligin 4, X-linked
NLRP12 NLR family, pyrin domain containing 12
NOD2 nucleotide-binding oligomerization domain containing 2
NODAL nodal growth differentiation factor
NOTCH1 notch 1
NPC1 Niemann-Pick disease, type C1
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
NPPA natriuretic peptide A
NPPB natriuretic peptide B
NPY neuropeptide Y
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR5A1 nuclear receptor subfamily 5, group A, member 1
NTF4 neurotrophin 4
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
OCRL oculocerebrorenal syndrome of Lowe
OPA1 optic atrophy 1 (autosomal dominant)
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OPHN1 oligophrenin 1
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1SW opsin 1 (cone pigments), short-wave-sensitive
P2RY12 purinergic receptor P2Y, G-protein coupled, 12
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PALB2 partner and localizer of BRCA2
PARK2 parkin RBR E3 ubiquitin protein ligase
PASK PAS domain containing serine/threonine kinase
PAX3 paired box 3
PAX4 paired box 4
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
PCDH1 protocadherin 1
PDCD1 programmed cell death 1
PDIA3 protein disulfide isomerase family A, member 3
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1
PEA15 phosphoprotein enriched in astrocytes 15
PEX11B peroxisomal biogenesis factor 11 beta
PEX5 peroxisomal biogenesis factor 5
PHKG2 phosphorylase kinase, gamma 2 (testis)
PHLPP1 PH domain and leucine rich repeat protein phosphatase 1
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)
PLAUR plasminogen activator, urokinase receptor
PLSCR1 phospholipid scramblase 1
PMEL premelanosome protein
POC1B POC1 centriolar protein B
POLR2A polymerase (RNA) II (DNA directed) polypeptide A, 220kDa
POMT1 protein-O-mannosyltransferase 1
POR P450 (cytochrome) oxidoreductase
POSTN periostin, osteoblast specific factor
POU1F1 POU class 1 homeobox 1
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPT1 palmitoyl-protein thioesterase 1
PRDM1 PR domain containing 1, with ZNF domain
PRKACG protein kinase, cAMP-dependent, catalytic, gamma
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRNP prion protein
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROP1 PROP paired-like homeobox 1
PROS1 protein S (alpha)
PRPF31 pre-mRNA processing factor 31
PSEN1 presenilin 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTH1R parathyroid hormone 1 receptor
PTK2 protein tyrosine kinase 2
PTPN1 protein tyrosine phosphatase, non-receptor type 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PYGM phosphorylase, glycogen, muscle
RAB27A RAB27A, member RAS oncogene family
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RAD50 RAD50 homolog (S. cerevisiae)
RAD51 RAD51 recombinase
RAP1A RAP1A, member of RAS oncogene family
RASGRF1 Ras protein-specific guanine nucleotide-releasing factor 1
RB1 retinoblastoma 1
RBP3 retinol binding protein 3, interstitial
RELN reelin
RFXANK regulatory factor X-associated ankyrin-containing protein
RGS2 regulator of G-protein signaling 2
ROCK1 Rho-associated, coiled-coil containing protein kinase 1
ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase
RPA1 replication protein A1, 70kDa
RPA2 replication protein A2, 32kDa
RPGR retinitis pigmentosa GTPase regulator
RPS14 ribosomal protein S14
RPS19 ribosomal protein S19
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1
RTN4 reticulon 4
RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
RYR1 ryanodine receptor 1 (skeletal)
RYR2 ryanodine receptor 2 (cardiac)
SALL4 spalt-like transcription factor 4
SBDS Shwachman-Bodian-Diamond syndrome
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN3A sodium channel, voltage gated, type III alpha subunit
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SECISBP2 SECIS binding protein 2
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SETX senataxin
SH3BP2 SH3-domain binding protein 2
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SHOX short stature homeobox
SIRT1 sirtuin 1
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SLC19A1 solute carrier family 19 (folate transporter), member 1
SLC1A5 solute carrier family 1 (neutral amino acid transporter), member 5
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SNORD115-1 small nucleolar RNA, C/D box 115-1
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SOCS2 suppressor of cytokine signaling 2
SOCS3 suppressor of cytokine signaling 3
SOD1 superoxide dismutase 1, soluble
SORT1 sortilin 1
SOX9 SRY (sex determining region Y)-box 9
SPATA16 spermatogenesis associated 16
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT2 signal transducer and activator of transcription 2, 113kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT5A signal transducer and activator of transcription 5A
STK11 serine/threonine kinase 11
STX11 syntaxin 11
STX16 syntaxin 16
STX1A syntaxin 1A (brain)
STXBP2 syntaxin binding protein 2
SYT13 synaptotagmin XIII
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TBX1 T-box 1
TBX2 T-box 2
TBX20 T-box 20
TBX21 T-box 21
TBX5 T-box 5
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TCTE3 t-complex-associated-testis-expressed 3
TERF1 telomeric repeat binding factor (NIMA-interacting) 1
TGFBI transforming growth factor, beta-induced, 68kDa
TIMP1 TIMP metallopeptidase inhibitor 1
TINAG tubulointerstitial nephritis antigen
TIRAP toll-interleukin 1 receptor (TIR) domain containing adaptor protein
TK1 thymidine kinase 1, soluble
TLL1 tolloid-like 1
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TLR9 toll-like receptor 9
TMEM70 transmembrane protein 70
TNF tumor necrosis factor
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TP53 tumor protein p53
TP63 tumor protein p63
TPH2 tryptophan hydroxylase 2
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TPO thyroid peroxidase
TRPM6 transient receptor potential cation channel, subfamily M, member 6
TSC2 tuberous sclerosis 2
TSHR thyroid stimulating hormone receptor
TTC8 tetratricopeptide repeat domain 8
TYMS thymidylate synthetase
TYR tyrosinase
TYROBP TYRO protein tyrosine kinase binding protein
UBB ubiquitin B
UMOD uromodulin
UMPS uridine monophosphate synthetase
UNC119 unc-119 homolog (C. elegans)
UNC13D unc-13 homolog D (C. elegans)
USF2 upstream transcription factor 2, c-fos interacting
USP26 ubiquitin specific peptidase 26
VAC14 Vac14 homolog (S. cerevisiae)
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VKORC1 vitamin K epoxide reductase complex, subunit 1
VSX1 visual system homeobox 1
VTN vitronectin
VWF von Willebrand factor
WAS Wiskott-Aldrich syndrome
WIPF1 WAS/WASL interacting protein family, member 1
XPA xeroderma pigmentosum, complementation group A
XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4
YARS tyrosyl-tRNA synthetase
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZIC3 Zic family member 3