abnormality of blood and blood-forming tissues Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the hematopoietic system. (Human Phenotype Ontology, HP_0001871)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001871
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Genes

792 genes associated with the abnormality of blood and blood-forming tissues phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
AAGAB alpha- and gamma-adaptin binding protein
AASS aminoadipate-semialdehyde synthase
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
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
ABHD5 abhydrolase domain containing 5
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACAD8 acyl-CoA dehydrogenase family, member 8
ACAD9 acyl-CoA dehydrogenase family, member 9
ACP2 acid phosphatase 2, lysosomal
ACP5 acid phosphatase 5, tartrate resistant
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTC1 actin, alpha, cardiac muscle 1
ACTN1 actinin, alpha 1
ACTN2 actinin, alpha 2
ACVR1 activin A receptor, type I
ACVRL1 activin A receptor type II-like 1
ADA adenosine deaminase
ADAM17 ADAM metallopeptidase domain 17
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAR adenosine deaminase, RNA-specific
AFF1 AF4/FMR2 family, member 1
AGA aspartylglucosaminidase
AGGF1 angiogenic factor with G patch and FHA domains 1
AGK acylglycerol kinase
AICDA activation-induced cytidine deaminase
AIP aryl hydrocarbon receptor interacting protein
AIRE autoimmune regulator
AK1 adenylate kinase 1
AK2 adenylate kinase 2
AKR1D1 aldo-keto reductase family 1, member D1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALAD aminolevulinate dehydratase
ALAS2 5'-aminolevulinate synthase 2
ALDOA aldolase A, fructose-bisphosphate
ALDOB aldolase B, fructose-bisphosphate
ALG6 ALG6, alpha-1,3-glucosyltransferase
ALPL alkaline phosphatase, liver/bone/kidney
AMACR alpha-methylacyl-CoA racemase
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
AMN amnion associated transmembrane protein
ANK1 ankyrin 1, erythrocytic
ANKRD11 ankyrin repeat domain 11
ANKRD26 ankyrin repeat domain 26
ANO6 anoctamin 6
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APC adenomatous polyposis coli
APOA1 apolipoprotein A-I
APOB apolipoprotein B
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
ARHGAP26 Rho GTPase activating protein 26
ARHGAP31 Rho GTPase activating protein 31
ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12
ARMC5 armadillo repeat containing 5
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASXL1 additional sex combs like transcriptional regulator 1
ATM ATM serine/threonine kinase
ATOH7 atonal homolog 7 (Drosophila)
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATR ATR serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
B2M beta-2-microglobulin
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BAG3 BCL2-associated athanogene 3
BAX BCL2-associated X protein
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)
BCL2 B-cell CLL/lymphoma 2
BCL3 B-cell CLL/lymphoma 3
BCL6 B-cell CLL/lymphoma 6
BCR breakpoint cluster region
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BEST1 bestrophin 1
BIRC3 baculoviral IAP repeat containing 3
BLM Bloom syndrome, RecQ helicase-like
BLNK B-cell linker
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
BMPR1A bone morphogenetic protein receptor, type IA
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BMS1 BMS1 ribosome biogenesis factor
BPGM 2,3-bisphosphoglycerate mutase
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BTK Bruton agammaglobulinemia tyrosine kinase
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C15ORF41 chromosome 15 open reading frame 41
C1GALT1C1 C1GALT1-specific chaperone 1
C2 complement component 2
C4A complement component 4A (Rodgers blood group)
CA2 carbonic anhydrase II
CALR calreticulin
CAPN3 calpain 3, (p94)
CAPN5 calpain 5
CARD11 caspase recruitment domain family, member 11
CARD9 caspase recruitment domain family, member 9
CASP10 caspase 10, apoptosis-related cysteine peptidase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CBFB core-binding factor, beta subunit
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CBS cystathionine-beta-synthase
CCBE1 collagen and calcium binding EGF domains 1
CCND1 cyclin D1
CD151 CD151 molecule (Raph blood group)
CD19 CD19 molecule
CD247 CD247 molecule
CD27 CD27 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
CD40LG CD40 ligand
CD59 CD59 molecule, complement regulatory protein
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CD81 CD81 molecule
CD8A CD8a molecule
CDAN1 codanin 1
CDSN corneodesmosin
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon
CECR1 cat eye syndrome chromosome region, candidate 1
CEP57 centrosomal protein 57kDa
CES1 carboxylesterase 1
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD7 chromodomain helicase DNA binding protein 7
CHEK2 checkpoint kinase 2
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CIITA class II, major histocompatibility complex, transactivator
CISD2 CDGSH iron sulfur domain 2
CLCN7 chloride channel, voltage-sensitive 7
CLDN1 claudin 1
CLN3 ceroid-lipofuscinosis, neuronal 3
CNBP CCHC-type zinc finger, nucleic acid binding protein
COA5 cytochrome c oxidase assembly factor 5
COG6 component of oligomeric golgi complex 6
COL14A1 collagen, type XIV, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL3A1 collagen, type III, alpha 1
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
COL4A5 collagen, type IV, alpha 5
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL7A1 collagen, type VII, alpha 1
COMT catechol-O-methyltransferase
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
CORO1A coronin, actin binding protein, 1A
COX1
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX2
COX20 COX20 cytochrome c oxidase assembly factor
COX3
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CP ceruloplasmin (ferroxidase)
CPOX coproporphyrinogen oxidase
CPT2 carnitine palmitoyltransferase 2
CR2 complement component (3d/Epstein Barr virus) receptor 2
CRYAB crystallin, alpha B
CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
CSF3R colony stimulating factor 3 receptor (granulocyte)
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CST3 cystatin C
CTC1 CTS telomere maintenance complex component 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSK cathepsin K
CUBN cubilin (intrinsic factor-cobalamin receptor)
CXCR4 chemokine (C-X-C motif) receptor 4
CYB5A cytochrome b5 type A (microsomal)
CYB5R3 cytochrome b5 reductase 3
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
CYCS cytochrome c, somatic
CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
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
DCLRE1C DNA cross-link repair 1C
DCTN4 dynactin 4 (p62)
DES desmin
DGKE diacylglycerol kinase, epsilon 64kDa
DGUOK deoxyguanosine kinase
DHFR dihydrofolate reductase
DKC1 dyskeratosis congenita 1, dyskerin
DMD dystrophin
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
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
DOLK dolichol kinase
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DSG2 desmoglein 2
DST dystonin
DTNBP1 dystrobrevin binding protein 1
EGLN1 egl-9 family hypoxia-inducible factor 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELANE elastase, neutrophil expressed
ENG endoglin
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPAS1 endothelial PAS domain protein 1
EPB41 erythrocyte membrane protein band 4.1
EPB42 erythrocyte membrane protein band 4.2
EPCAM epithelial cell adhesion molecule
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPOR erythropoietin receptor
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC6L2 excision repair cross-complementation group 6-like 2
ERMAP erythroblast membrane-associated protein (Scianna blood group)
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
ETHE1 ethylmalonic encephalopathy 1
ETV6 ets variant 6
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EWSR1 EWS RNA-binding protein 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
F2 coagulation factor II (thrombin)
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
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAM111A family with sequence similarity 111, member A
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FASTKD2 FAST kinase domains 2
FAT4 FAT atypical cadherin 4
FBXL4 F-box and leucine-rich repeat protein 4
FCGR2C Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene)
FECH ferrochelatase
FERMT1 fermitin family member 1
FERMT3 fermitin family member 3
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGG fibrinogen gamma chain
FH fumarate hydratase
FHL2 four and a half LIM domains 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP14 FK506 binding protein 14, 22 kDa
FKTN fukutin
FLNA filamin A, alpha
FLT3 fms-related tyrosine kinase 3
FMO3 flavin containing monooxygenase 3
FN1 fibronectin 1
FOXP1 forkhead box P1
FOXP3 forkhead box P3
FTCD formimidoyltransferase cyclodeaminase
FUCA1 fucosidase, alpha-L- 1, tissue
FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)
FZD4 frizzled class receptor 4
G6PC glucose-6-phosphatase, catalytic subunit
G6PC3 glucose 6 phosphatase, catalytic, 3
G6PD glucose-6-phosphate dehydrogenase
GALC galactosylceramidase
GALT galactose-1-phosphate uridylyltransferase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GATAD1 GATA zinc finger domain containing 1
GBA glucosidase, beta, acid
GCDH glutaryl-CoA dehydrogenase
GCLC glutamate-cysteine ligase, catalytic subunit
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
GDF2 growth differentiation factor 2
GFI1 growth factor independent 1 transcription repressor
GFI1B growth factor independent 1B transcription repressor
GGCX gamma-glutamyl carboxylase
GIF gastric intrinsic factor (vitamin B synthesis)
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GLRX5 glutaredoxin 5
GMPS guanine monphosphate synthase
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GP1BB glycoprotein Ib (platelet), beta polypeptide
GP6 glycoprotein VI (platelet)
GP9 glycoprotein IX (platelet)
GPI glucose-6-phosphate isomerase
GPX1 glutathione peroxidase 1
GREM1 gremlin 1, DAN family BMP antagonist
GSR glutathione reductase
GSS glutathione synthetase
GTF2H5 general transcription factor IIH, polypeptide 5
HAX1 HCLS1 associated protein X-1
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HBD hemoglobin, delta
HBG1 hemoglobin, gamma A
HBG2 hemoglobin, gamma G
HBZ hemoglobin, zeta
HIRA histone cell cycle regulator
HK1 hexokinase 1
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HMOX1 heme oxygenase 1
HOXA11 homeobox A11
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HPRT1 hypoxanthine phosphoribosyltransferase 1
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
HRG histidine-rich glycoprotein
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
ICOS inducible T-cell co-stimulator
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IFIH1 interferon induced with helicase C domain 1
IFNGR1 interferon gamma receptor 1
IFT140 intraflagellar transport 140
IGHM immunoglobulin heavy constant mu
IGHV4-34 immunoglobulin heavy variable 4-34
IGLL1 immunoglobulin lambda-like polypeptide 1
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL10RA interleukin 10 receptor, alpha
IL12B interleukin 12B
IL12RB2 interleukin 12 receptor, beta 2
IL21 interleukin 21
IL23R interleukin 23 receptor
IL2RA interleukin 2 receptor, alpha
IL2RG interleukin 2 receptor, gamma
IL3RA interleukin 3 receptor, alpha (low affinity)
IL7R interleukin 7 receptor
IRAK4 interleukin-1 receptor-associated kinase 4
IRF4 interferon regulatory factor 4
IRX5 iroquois homeobox 5
ISCU iron-sulfur cluster assembly enzyme
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)
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
JAGN1 jagunal homolog 1 (Drosophila)
JAK2 Janus kinase 2
JAK3 Janus kinase 3
KAT6B K(lysine) acetyltransferase 6B
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KIF11 kinesin family member 11
KIF1B kinesin family member 1B
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLF1 Kruppel-like factor 1 (erythroid)
KLHDC8B kelch domain containing 8B
KLKB1 kallikrein B, plasma (Fletcher factor) 1
KLLN killin, p53-regulated DNA replication inhibitor
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
KRIT1 KRIT1, ankyrin repeat containing
KRT1 keratin 1, type II
KRT14 keratin 14, type I
KRT5 keratin 5, type II
KRT9 keratin 9, type I
LAMA4 laminin, alpha 4
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LBR lamin B receptor
LCAT lecithin-cholesterol acyltransferase
LCRB locus control region, beta
LDB3 LIM domain binding 3
LIG4 ligase IV, DNA, ATP-dependent
LIPA lipase A, lysosomal acid, cholesterol esterase
LMAN1 lectin, mannose-binding, 1
LMBRD1 LMBR1 domain containing 1
LMNB2 lamin B2
LPIN2 lipin 2
LPP LIM domain containing preferred translocation partner in lipoma
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRP5 low density lipoprotein receptor-related protein 5
LRRC8A leucine rich repeat containing 8 family, member A
LRRFIP2 leucine rich repeat (in FLII) interacting protein 2
LYL1 lymphoblastic leukemia associated hematopoiesis regulator 1
LYRM7 LYR motif containing 7
LYST lysosomal trafficking regulator
MAGT1 magnesium transporter 1
MALT1 MALT1 paracaspase
MAN2B1 mannosidase, alpha, class 2B, member 1
MAP2K2 mitogen-activated protein kinase kinase 2
MASTL microtubule associated serine/threonine kinase-like
MCFD2 multiple coagulation factor deficiency 2
MCM4 minichromosome maintenance complex component 4
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MEFV Mediterranean fever
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MLF1 myeloid leukemia factor 1
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MLLT1 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1
MLLT10 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10
MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3
MLX MLX, MAX dimerization protein
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
MMP1 matrix metallopeptidase 1
MOGS mannosyl-oligosaccharide glucosidase
MPI mannose phosphate isomerase
MPL MPL proto-oncogene, thrombopoietin receptor
MPO myeloperoxidase
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTAP methylthioadenosine phosphorylase
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MTTP microsomal triglyceride transfer protein
MUC1 mucin 1, cell surface associated
MUT methylmalonyl CoA mutase
MVK mevalonate kinase
MYB v-myb avian myeloblastosis viral oncogene homolog
MYBPC3 myosin binding protein C, cardiac
MYC v-myc avian myelocytomatosis viral oncogene 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
MYPN myopalladin
NBEAL2 neurobeachin-like 2
NBN nibrin
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
ND1
NEU1 sialidase 1 (lysosomal sialidase)
NEXN nexilin (F actin binding protein)
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NHEJ1 nonhomologous end-joining factor 1
NHP2 NHP2 ribonucleoprotein
NIPBL Nipped-B homolog (Drosophila)
NLRP3 NLR family, pyrin domain containing 3
NME1 NME/NM23 nucleoside diphosphate kinase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOP10 NOP10 ribonucleoprotein
NOTCH1 notch 1
NOTCH3 notch 3
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPHP1 nephronophthisis 1 (juvenile)
NPHP4 nephronophthisis 4
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NT5C3A 5'-nucleotidase, cytosolic IIIA
NUP214 nucleoporin 214kDa
OCLN occludin
OCRL oculocerebrorenal syndrome of Lowe
P2RY12 purinergic receptor P2Y, G-protein coupled, 12
PALB2 partner and localizer of BRCA2
PANK2 pantothenate kinase 2
PBX1 pre-B-cell leukemia homeobox 1
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PCNT pericentrin
PDCD10 programmed cell death 10
PDE11A phosphodiesterase 11A
PDGFB platelet-derived growth factor beta polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PEPD peptidase D
PET100 PET100 homolog (S. cerevisiae)
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PFKM phosphofructokinase, muscle
PGD phosphogluconate dehydrogenase
PGK1 phosphoglycerate kinase 1
PGM1 phosphoglucomutase 1
PGM3 phosphoglucomutase 3
PHGDH phosphoglycerate dehydrogenase
PICALM phosphatidylinositol binding clathrin assembly protein
PIEZO1 piezo-type mechanosensitive ion channel component 1
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGM phosphatidylinositol glycan anchor biosynthesis, class M
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PKLR pyruvate kinase, liver and RBC
PLAT plasminogen activator, tissue
PLAU plasminogen activator, urokinase
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLEC plectin
PLN phospholamban
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PMM2 phosphomannomutase 2
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNP purine nucleoside phosphorylase
PNPO pyridoxamine 5'-phosphate oxidase
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit
PRDM16 PR domain containing 16
PRDM5 PR domain containing 5
PRF1 perforin 1 (pore forming protein)
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCD protein kinase C, delta
PRKCSH protein kinase C substrate 80K-H
PRLR prolactin receptor
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROS1 protein S (alpha)
PRSS1 protease, serine, 1 (trypsin 1)
PRTN3 proteinase 3
PSAP prosaposin
PSEN1 presenilin 1
PSEN2 presenilin 2
PSG1 pregnancy specific beta-1-glycoprotein 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPRC protein tyrosine phosphatase, receptor type, C
PTRF polymerase I and transcript release factor
PUS1 pseudouridylate synthase 1
RAB27A RAB27A, member RAS oncogene family
RAB40AL RAB40A, member RAS oncogene family-like
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
RAD51C RAD51 paralog C
RAD54B RAD54 homolog B (S. cerevisiae)
RAD54L RAD54-like (S. cerevisiae)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RARA retinoic acid receptor, alpha
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RASGRP2 RAS guanyl releasing protein 2 (calcium and DAG-regulated)
RB1 retinoblastoma 1
RBM20 RNA binding motif protein 20
RBM8A RNA binding motif protein 8A
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RECQL4 RecQ protein-like 4
REN renin
RET ret proto-oncogene
RFT1 RFT1 homolog (S. cerevisiae)
RFX5 regulatory factor X, 5 (influences HLA class II expression)
RFXANK regulatory factor X-associated ankyrin-containing protein
RFXAP regulatory factor X-associated protein
RHAG Rh-associated glycoprotein
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
RIN2 Ras and Rab interactor 2
RIT1 Ras-like without CAAX 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNASEH2A ribonuclease H2, subunit A
RNASEH2C ribonuclease H2, subunit C
RNF168 ring finger protein 168, E3 ubiquitin protein ligase
RPL11 ribosomal protein L11
RPL15 ribosomal protein L15
RPL26 ribosomal protein L26
RPL35A ribosomal protein L35a
RPL5 ribosomal protein L5
RPS10 ribosomal protein S10
RPS14 ribosomal protein S14
RPS17 ribosomal protein S17
RPS19 ribosomal protein S19
RPS24 ribosomal protein S24
RPS26 ribosomal protein S26
RPS29 ribosomal protein S29
RPS7 ribosomal protein S7
RPSA ribosomal protein SA
RTEL1 regulator of telomere elongation helicase 1
RUNX1 runt-related transcription factor 1
RYR1 ryanodine receptor 1 (skeletal)
SALL4 spalt-like transcription factor 4
SAR1B secretion associated, Ras related GTPase 1B
SARS2 seryl-tRNA synthetase 2, mitochondrial
SBDS Shwachman-Bodian-Diamond syndrome
SC5D sterol-C5-desaturase
SCARB2 scavenger receptor class B, member 2
SCN5A sodium channel, voltage gated, type V alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEC23B Sec23 homolog B (S. cerevisiae)
SEC63 SEC63 homolog (S. cerevisiae)
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2
SETX senataxin
SF3B1 splicing factor 3b, subunit 1, 155kDa
SFTPA2 surfactant protein A2
SFXN4 sideroflexin 4
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SH2B3 SH2B adaptor protein 3
SH2D1A SH2 domain containing 1A
SH3GL1 SH3-domain GRB2-like 1
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC25A38 solute carrier family 25, member 38
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC30A10 solute carrier family 30, member 10
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLX4 SLX4 structure-specific endonuclease subunit
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNAP29 synaptosomal-associated protein, 29kDa
SNX10 sorting nexin 10
SOS1 son of sevenless homolog 1 (Drosophila)
SP110 SP110 nuclear body protein
SPINK1 serine peptidase inhibitor, Kazal type 1
SPINK5 serine peptidase inhibitor, Kazal type 5
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
SRD5A3 steroid 5 alpha-reductase 3
SRP72 signal recognition particle 72kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT4 signal transducer and activator of transcription 4
STEAP3 STEAP family member 3, metalloreductase
STIM1 stromal interaction molecule 1
STK11 serine/threonine kinase 11
STK4 serine/threonine kinase 4
STOM stomatin
STS steroid sulfatase (microsomal), isozyme S
STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
STX11 syntaxin 11
STX1A syntaxin 1A (brain)
STXBP2 syntaxin binding protein 2
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TAL1 T-cell acute lymphocytic leukemia 1
TAZ tafazzin
TBCE tubulin folding cofactor E
TBX1 T-box 1
TBXAS1 thromboxane A synthase 1 (platelet)
TCAP titin-cap
TCF3 transcription factor 3
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCL1A T-cell leukemia/lymphoma 1A
TCN2 transcobalamin II
TEK TEK tyrosine kinase, endothelial
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TF transferrin
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THBD thrombomodulin
THPO thrombopoietin
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TLR4 toll-like receptor 4
TLX1 T-cell leukemia homeobox 1
TMEM165 transmembrane protein 165
TMEM173 transmembrane protein 173
TMEM67 transmembrane protein 67
TMPO thymopoietin
TMPRSS6 transmembrane protease, serine 6
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TNNC1 troponin C type 1 (slow)
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TNXB tenascin XB
TP53 tumor protein p53
TP63 tumor protein p63
TPI1 triosephosphate isomerase 1
TPM1 tropomyosin 1 (alpha)
TPMT thiopurine S-methyltransferase
TREM2 triggering receptor expressed on myeloid cells 2
TREX1 three prime repair exonuclease 1
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TTC37 tetratricopeptide repeat domain 37
TTN titin
TXNRD2 thioredoxin reductase 2
TYK2 tyrosine kinase 2
TYROBP TYRO protein tyrosine kinase binding protein
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
UMPS uridine monophosphate synthetase
UNC119 unc-119 homolog (C. elegans)
UNC13D unc-13 homolog D (C. elegans)
UNG uracil-DNA glycosylase
UROD uroporphyrinogen decarboxylase
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
VCL vinculin
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
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)
VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae)
VWF von Willebrand factor
WAS Wiskott-Aldrich syndrome
WDR19 WD repeat domain 19
WFS1 Wolfram syndrome 1 (wolframin)
WHSC1L1 Wolf-Hirschhorn syndrome candidate 1-like 1
WIPF1 WAS/WASL interacting protein family, member 1
WRAP53 WD repeat containing, antisense to TP53
WT1 Wilms tumor 1
XGR XG and CD99 regulator
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
XK X-linked Kx blood group
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZBTB20 zinc finger and BTB domain containing 20
ZBTB24 zinc finger and BTB domain containing 24
ZNF469 zinc finger protein 469