abnormality of the immune system Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the immune system. (Human Phenotype Ontology, HP_0002715)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002715
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Genes

899 genes associated with the abnormality of the immune system phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
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
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACP5 acid phosphatase 5, tartrate resistant
ACTA1 actin, alpha 1, skeletal muscle
ACTB actin, beta
ACTC1 actin, alpha, cardiac muscle 1
ACTG2 actin, gamma 2, smooth muscle, enteric
ACTN2 actinin, alpha 2
ACVR2B activin A receptor, type IIB
ADA adenosine deaminase
ADAM17 ADAM metallopeptidase domain 17
ADAMTSL2 ADAMTS-like 2
ADNP activity-dependent neuroprotector homeobox
AGA aspartylglucosaminidase
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AICDA activation-induced cytidine deaminase
AIRE autoimmune regulator
AK2 adenylate kinase 2
AKR1D1 aldo-keto reductase family 1, member D1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALAS2 5'-aminolevulinate synthase 2
ALDOA aldolase A, fructose-bisphosphate
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG12 ALG12, alpha-1,6-mannosyltransferase
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALMS1 Alstrom syndrome protein 1
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALPL alkaline phosphatase, liver/bone/kidney
ANK1 ankyrin 1, erythrocytic
ANKRD55 ankyrin repeat domain 55
ANTXR2 anthrax toxin receptor 2
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APC adenomatous polyposis coli
APOA1 apolipoprotein A-I
APOC2 apolipoprotein C-II
APOE apolipoprotein E
APRT adenine phosphoribosyltransferase
ARHGAP26 Rho GTPase activating protein 26
ARHGAP31 Rho GTPase activating protein 31
ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL6 ADP-ribosylation factor-like 6
ARMC4 armadillo repeat containing 4
ARSB arylsulfatase B
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATM ATM serine/threonine kinase
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
ATRX alpha thalassemia/mental retardation syndrome X-linked
B2M beta-2-microglobulin
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BAG3 BCL2-associated athanogene 3
BAX BCL2-associated X protein
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
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
BIRC3 baculoviral IAP repeat containing 3
BLM Bloom syndrome, RecQ helicase-like
BLNK B-cell linker
BMPR1A bone morphogenetic protein receptor, type IA
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
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BTD biotinidase
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
C1QA complement component 1, q subcomponent, A chain
C1QB complement component 1, q subcomponent, B chain
C1QC complement component 1, q subcomponent, C chain
C1R complement component 1, r subcomponent
C1S complement component 1, s subcomponent
C2 complement component 2
C21ORF59 chromosome 21 open reading frame 59
C3 complement component 3
C4A complement component 4A (Rodgers blood group)
C5 complement component 5
C5ORF42 chromosome 5 open reading frame 42
C6 complement component 6
C7 complement component 7
C8A complement component 8, alpha polypeptide
C8B complement component 8, beta polypeptide
C9 complement component 9
CA2 carbonic anhydrase II
CALR calreticulin
CAPN3 calpain 3, (p94)
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
CAV1 caveolin 1, caveolae protein, 22kDa
CBFB core-binding factor, beta subunit
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CC2D2A coiled-coil and C2 domain containing 2A
CCBE1 collagen and calcium binding EGF domains 1
CCDC103 coiled-coil domain containing 103
CCDC114 coiled-coil domain containing 114
CCDC151 coiled-coil domain containing 151
CCDC22 coiled-coil domain containing 22
CCDC39 coiled-coil domain containing 39
CCDC40 coiled-coil domain containing 40
CCDC65 coiled-coil domain containing 65
CCL11 chemokine (C-C motif) ligand 11
CCND1 cyclin D1
CCNO cyclin O
CCR6 chemokine (C-C motif) receptor 6
CD19 CD19 molecule
CD247 CD247 molecule
CD27 CD27 molecule
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
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CD81 CD81 molecule
CD8A CD8a molecule
CD96 CD96 molecule
CDAN1 codanin 1
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDK4 cyclin-dependent kinase 4
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
CDR1 cerebellar degeneration-related protein 1, 34kDa
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
CEP126 centrosomal protein 126kDa
CEP290 centrosomal protein 290kDa
CEP57 centrosomal protein 57kDa
CES1 carboxylesterase 1
CFD complement factor D (adipsin)
CFH complement factor H
CFI complement factor I
CFP complement factor properdin
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHAT choline O-acetyltransferase
CHD7 chromodomain helicase DNA binding protein 7
CHEK2 checkpoint kinase 2
CHRM3 cholinergic receptor, muscarinic 3
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CIITA class II, major histocompatibility complex, transactivator
CISD2 CDGSH iron sulfur domain 2
CLCN7 chloride channel, voltage-sensitive 7
CLDN1 claudin 1
CLDN16 claudin 16
CLDN19 claudin 19
CLEC7A C-type lectin domain family 7, member A
CLIP2 CAP-GLY domain containing linker protein 2
CLN3 ceroid-lipofuscinosis, neuronal 3
CNBP CCHC-type zinc finger, nucleic acid binding protein
COG4 component of oligomeric golgi complex 4
COG6 component of oligomeric golgi complex 6
COG7 component of oligomeric golgi complex 7
COL11A2 collagen, type XI, alpha 2
COL18A1 collagen, type XVIII, alpha 1
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
COMT catechol-O-methyltransferase
CORO1A coronin, actin binding protein, 1A
COX1
COX2
COX3
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
CPOX coproporphyrinogen oxidase
CR2 complement component (3d/Epstein Barr virus) receptor 2
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRYAB crystallin, alpha B
CSF3R colony stimulating factor 3 receptor (granulocyte)
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTC1 CTS telomere maintenance complex component 1
CTGF connective tissue growth factor
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNS cystinosin, lysosomal cystine transporter
CTSA cathepsin A
CTSC cathepsin C
CTSK cathepsin K
CUL4B cullin 4B
CXCR4 chemokine (C-X-C motif) receptor 4
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DCLRE1C DNA cross-link repair 1C
DCTN4 dynactin 4 (p62)
DDR2 discoidin domain receptor tyrosine kinase 2
DEAF1 DEAF1 transcription factor
DES desmin
DGUOK deoxyguanosine kinase
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DKC1 dyskeratosis congenita 1, dyskerin
DLL3 delta-like 3 (Drosophila)
DMD dystrophin
DNAAF1 dynein, axonemal, assembly factor 1
DNAAF2 dynein, axonemal, assembly factor 2
DNAAF3 dynein, axonemal, assembly factor 3
DNAAF5 dynein, axonemal, assembly factor 5
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DNAI2 dynein, axonemal, intermediate chain 2
DNAL1 dynein, axonemal, light chain 1
DNASE1L3 deoxyribonuclease I-like 3
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOCK6 dedicator of cytokinesis 6
DOCK8 dedicator of cytokinesis 8
DOK7 docking protein 7
DOLK dolichol kinase
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DRC1 dynein regulatory complex subunit 1
DSG1 desmoglein 1
DSG2 desmoglein 2
DYX1C1 dyslexia susceptibility 1 candidate 1
ECE1 endothelin converting enzyme 1
ECM1 extracellular matrix protein 1
EDN3 endothelin 3
EDNRB endothelin receptor type B
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELANE elastase, neutrophil expressed
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPCAM epithelial cell adhesion molecule
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ERCC6L2 excision repair cross-complementation group 6-like 2
ERCC8 excision repair cross-complementation group 8
ERMAP erythroblast membrane-associated protein (Scianna blood group)
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
ETV6 ets variant 6
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EWSR1 EWS RNA-binding protein 1
EXT1 exostosin glycosyltransferase 1
F5 coagulation factor V (proaccelerin, labile factor)
FADD Fas (TNFRSF6)-associated via death domain
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
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FAT4 FAT atypical cadherin 4
FBLN5 fibulin 5
FBN1 fibrillin 1
FBXL4 F-box and leucine-rich repeat protein 4
FCGR2C Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene)
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FCN3 ficolin (collagen/fibrinogen domain containing) 3
FERMT3 fermitin family member 3
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGG fibrinogen gamma chain
FHL2 four and a half LIM domains 2
FKTN fukutin
FLG filaggrin
FLNA filamin A, alpha
FLT3 fms-related tyrosine kinase 3
FLT4 fms-related tyrosine kinase 4
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FMO3 flavin containing monooxygenase 3
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXC2 forkhead box C2
FOXF1 forkhead box F1
FOXN1 forkhead box N1
FOXP1 forkhead box P1
FOXP3 forkhead box P3
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FTCD formimidoyltransferase cyclodeaminase
FUCA1 fucosidase, alpha-L- 1, tissue
G6PC3 glucose 6 phosphatase, catalytic, 3
GAA glucosidase, alpha; acid
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALC galactosylceramidase
GALE UDP-galactose-4-epimerase
GALNS galactosamine (N-acetyl)-6-sulfatase
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
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCK glucokinase (hexokinase 4)
GDF1 growth differentiation factor 1
GDNF glial cell derived neurotrophic factor
GFI1 growth factor independent 1 transcription repressor
GFI1B growth factor independent 1B transcription repressor
GH1 growth hormone 1
GIF gastric intrinsic factor (vitamin B synthesis)
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GLB1 galactosidase, beta 1
GMPS guanine monphosphate synthase
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNS glucosamine (N-acetyl)-6-sulfatase
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GPD1 glycerol-3-phosphate dehydrogenase 1 (soluble)
GPI glucose-6-phosphate isomerase
GRIP1 glutamate receptor interacting protein 1
GSS glutathione synthetase
GTF2H5 general transcription factor IIH, polypeptide 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUSB glucuronidase, beta
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HACD1 3-hydroxyacyl-CoA dehydratase 1
HAX1 HCLS1 associated protein X-1
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HBG1 hemoglobin, gamma A
HBG2 hemoglobin, gamma G
HES7 hes family bHLH transcription factor 7
HEXB hexosaminidase B (beta polypeptide)
HFE hemochromatosis
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
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-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRA major histocompatibility complex, class II, DR alpha
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMGA2 high mobility group AT-hook 2
HOXA13 homeobox A13
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HPSE2 heparanase 2 (inactive)
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
HSPG2 heparan sulfate proteoglycan 2
HYAL1 hyaluronoglucosaminidase 1
HYDIN HYDIN, axonemal central pair apparatus protein
HYLS1 hydrolethalus syndrome 1
ICOS inducible T-cell co-stimulator
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFIH1 interferon induced with helicase C domain 1
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IGHM immunoglobulin heavy constant mu
IGHV4-34 immunoglobulin heavy variable 4-34
IGLL1 immunoglobulin lambda-like polypeptide 1
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL10RA interleukin 10 receptor, alpha
IL10RB interleukin 10 receptor, beta
IL12RB2 interleukin 12 receptor, beta 2
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
IL1RN interleukin 1 receptor antagonist
IL21 interleukin 21
IL21R interleukin 21 receptor
IL23R interleukin 23 receptor
IL2RA interleukin 2 receptor, alpha
IL2RB interleukin 2 receptor, beta
IL2RG interleukin 2 receptor, gamma
IL6 interleukin 6
IL7R interleukin 7 receptor
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INPPL1 inositol polyphosphate phosphatase-like 1
INS insulin
INSR insulin receptor
IRAK4 interleukin-1 receptor-associated kinase 4
IRF5 interferon regulatory factor 5
IRF8 interferon regulatory factor 8
ITCH itchy E3 ubiquitin protein ligase
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
ITGA7 integrin, alpha 7
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
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
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCTD1 potassium channel tetramerization domain containing 1
KDM5D lysine (K)-specific demethylase 5D
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIAA0319L KIAA0319-like
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLF1 Kruppel-like factor 1 (erythroid)
KLHDC8B kelch domain containing 8B
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT1 keratin 1, type II
KRT9 keratin 9, type I
L1CAM L1 cell adhesion molecule
LAMA3 laminin, alpha 3
LAMA4 laminin, alpha 4
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LBR lamin B receptor
LCAT lecithin-cholesterol acyltransferase
LCK LCK proto-oncogene, Src family tyrosine kinase
LDB3 LIM domain binding 3
LEMD3 LEM domain containing 3
LEPR leptin receptor
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LIPA lipase A, lysosomal acid, cholesterol esterase
LIPN lipase, family member N
LMBRD1 LMBR1 domain containing 1
LMNA lamin A/C
LMNB2 lamin B2
LPIN2 lipin 2
LPL lipoprotein lipase
LPP LIM domain containing preferred translocation partner in lipoma
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRIG2 leucine-rich repeats and immunoglobulin-like domains 2
LRRC6 leucine rich repeat containing 6
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
LYST lysosomal trafficking regulator
LYZ lysozyme
LZTFL1 leucine zipper transcription factor-like 1
MAGT1 magnesium transporter 1
MALT1 MALT1 paracaspase
MAN2B1 mannosidase, alpha, class 2B, member 1
MANBA mannosidase, beta A, lysosomal
MAP2K2 mitogen-activated protein kinase kinase 2
MAPK1 mitogen-activated protein kinase 1
MBTPS2 membrane-bound transcription factor peptidase, site 2
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MCM4 minichromosome maintenance complex component 4
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MECP2 methyl CpG binding protein 2
MEFV Mediterranean fever
MEIS2 Meis homeobox 2
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MGME1 mitochondrial genome maintenance exonuclease 1
MGP matrix Gla protein
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLF1 myeloid leukemia factor 1
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MLLT10 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMP2 matrix metallopeptidase 2
MNX1 motor neuron and pancreas homeobox 1
MOGS mannosyl-oligosaccharide glucosidase
MPL MPL proto-oncogene, thrombopoietin receptor
MPO myeloperoxidase
MPV17 MpV17 mitochondrial inner membrane protein
MPZ myelin protein zero
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
MUSK muscle, skeletal, receptor tyrosine kinase
MUT methylmalonyl CoA mutase
MVK mevalonate kinase
MYB v-myb avian myeloblastosis viral oncogene homolog
MYBPC3 myosin binding protein C, cardiac
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
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYO5A myosin VA (heavy chain 12, myoxin)
MYPN myopalladin
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGLU N-acetylglucosaminidase, alpha
NBEAL2 neurobeachin-like 2
NBN nibrin
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
ND1
NDE1 nudE neurodevelopment protein 1
NDN necdin, melanoma antigen (MAGE) family member
NDP Norrie disease (pseudoglioma)
NEK8 NIMA-related kinase 8
NELFA negative elongation factor complex member A
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)
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NHEJ1 nonhomologous end-joining factor 1
NHP2 NHP2 ribonucleoprotein
NIPAL4 NIPA-like domain containing 4
NKX2-1 NK2 homeobox 1
NLRP3 NLR family, pyrin domain containing 3
NME8 NME/NM23 family member 8
NOD2 nucleotide-binding oligomerization domain containing 2
NOP10 NOP10 ribonucleoprotein
NOTCH1 notch 1
NOTCH2 notch 2
NOTCH3 notch 3
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPHP3 nephronophthisis 3 (adolescent)
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRTN neurturin
NSD1 nuclear receptor binding SET domain protein 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NUP214 nucleoporin 214kDa
OCLN occludin
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
ORAI1 ORAI calcium release-activated calcium modulator 1
ORC6 origin recognition complex, subunit 6
OTC ornithine carbamoyltransferase
PALB2 partner and localizer of BRCA2
PAX4 paired box 4
PBX1 pre-B-cell leukemia homeobox 1
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE4D phosphodiesterase 4D, cAMP-specific
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PEPD peptidase D
PEX2 peroxisomal biogenesis factor 2
PEX5 peroxisomal biogenesis factor 5
PEX7 peroxisomal biogenesis factor 7
PGM3 phosphoglucomutase 3
PHKG2 phosphorylase kinase, gamma 2 (testis)
PHYH phytanoyl-CoA 2-hydroxylase
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
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)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PKLR pyruvate kinase, liver and RBC
PKP1 plakophilin 1
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLEC plectin
PLG plasminogen
PLN phospholamban
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLP1 proteolipid protein 1
PMM2 phosphomannomutase 2
PMP22 peripheral myelin protein 22
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNP purine nucleoside phosphorylase
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit
POLE polymerase (DNA directed), epsilon, catalytic subunit
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
PORCN porcupine homolog (Drosophila)
POT1 protection of telomeres 1
POU6F2 POU class 6 homeobox 2
PRDM16 PR domain containing 16
PRF1 perforin 1 (pore forming protein)
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCD protein kinase C, delta
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRTN3 proteinase 3
PSAP prosaposin
PSEN1 presenilin 1
PSEN2 presenilin 2
PSENEN presenilin enhancer gamma secretase subunit
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
PTPN2 protein tyrosine phosphatase, non-receptor type 2
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPRC protein tyrosine phosphatase, receptor type, C
PTRF polymerase I and transcript release factor
PVR poliovirus receptor
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
RAB23 RAB23, member RAS oncogene family
RAB27A RAB27A, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RAI1 retinoic acid induced 1
RANBP2 RAN binding protein 2
RAPSN receptor-associated protein of the synapse
RARA retinoic acid receptor, alpha
RARB retinoic acid receptor, beta
RB1 retinoblastoma 1
RBCK1 RanBP-type and C3HC4-type zinc finger containing 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
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RFX5 regulatory factor X, 5 (influences HLA class II expression)
RFXANK regulatory factor X-associated ankyrin-containing protein
RFXAP regulatory factor X-associated protein
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
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
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RPL11 ribosomal protein L11
RPL15 ribosomal protein L15
RPL26 ribosomal protein L26
RPL35A ribosomal protein L35a
RPL5 ribosomal protein L5
RPS10 ribosomal protein S10
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
RSPH1 radial spoke head 1 homolog (Chlamydomonas)
RSPH4A radial spoke head 4 homolog A (Chlamydomonas)
RSPH9 radial spoke head 9 homolog (Chlamydomonas)
RTEL1 regulator of telomere elongation helicase 1
RUNX1 runt-related transcription factor 1
RUNX2 runt-related transcription factor 2
RYR1 ryanodine receptor 1 (skeletal)
SALL4 spalt-like transcription factor 4
SARS2 seryl-tRNA synthetase 2, mitochondrial
SBDS Shwachman-Bodian-Diamond syndrome
SC5D sterol-C5-desaturase
SCARB2 scavenger receptor class B, member 2
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SEC23B Sec23 homolog B (S. cerevisiae)
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEPN1 selenoprotein N, 1
SERAC1 serine active site containing 1
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SETX senataxin
SFTPA2 surfactant protein A2
SFTPC surfactant protein C
SFTPD surfactant protein D
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SGSH N-sulfoglucosamine sulfohydrolase
SH2B3 SH2B adaptor protein 3
SH2D1A SH2 domain containing 1A
SH3GL1 SH3-domain GRB2-like 1
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHH sonic hedgehog
SKI SKI proto-oncogene
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLX4 SLX4 structure-specific endonuclease subunit
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMN1 survival of motor neuron 1, telomeric
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNRPN small nuclear ribonucleoprotein polypeptide N
SNX10 sorting nexin 10
SOS1 son of sevenless homolog 1 (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
SOX11 SRY (sex determining region Y)-box 11
SOX18 SRY (sex determining region Y)-box 18
SP110 SP110 nuclear body protein
SPAG1 sperm associated antigen 1
SPINK5 serine peptidase inhibitor, Kazal type 5
SRCAP Snf2-related CREBBP activator protein
STAT1 signal transducer and activator of transcription 1, 91kDa
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
STK4 serine/threonine kinase 4
STRA6 stimulated by retinoic acid 6
STS steroid sulfatase (microsomal), isozyme S
STX11 syntaxin 11
STX1A syntaxin 1A (brain)
STXBP2 syntaxin binding protein 2
SUMF1 sulfatase modifying factor 1
TALDO1 transaldolase 1
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
TAPBP TAP binding protein (tapasin)
TAZ tafazzin
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX21 T-box 21
TBX6 T-box 6
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
TCN2 transcobalamin II
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TF transferrin
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB1 transforming growth factor, beta 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGM1 transglutaminase 1
THOC6 THO complex 6
THPO thrombopoietin
TICAM1 toll-like receptor adaptor molecule 1
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TLR4 toll-like receptor 4
TLX1 T-cell leukemia homeobox 1
TMC6 transmembrane channel-like 6
TMC8 transmembrane channel-like 8
TMEM173 transmembrane protein 173
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
TMPO thymopoietin
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)
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRAC T cell receptor alpha constant
TRAF3IP2 TRAF3 interacting protein 2
TREM2 triggering receptor expressed on myeloid cells 2
TREX1 three prime repair exonuclease 1
TRIM32 tripartite motif containing 32
TRPS1 trichorhinophalangeal syndrome I
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSPYL1 TSPY-like 1
TTC37 tetratricopeptide repeat domain 37
TTC7A tetratricopeptide repeat domain 7A
TTC8 tetratricopeptide repeat domain 8
TTN titin
TXNRD2 thioredoxin reductase 2
TYK2 tyrosine kinase 2
TYROBP TYRO protein tyrosine kinase binding protein
UBE3B ubiquitin protein ligase E3B
UFD1L ubiquitin fusion degradation 1 like (yeast)
UMPS uridine monophosphate synthetase
UNC119 unc-119 homolog (C. elegans)
UNC13D unc-13 homolog D (C. elegans)
UNC93B1 unc-93 homolog B1 (C. elegans)
UNG uracil-DNA glycosylase
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
VANGL1 VANGL planar cell polarity protein 1
VCL vinculin
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae)
WAS Wiskott-Aldrich syndrome
WDPCP WD repeat containing planar cell polarity effector
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WFS1 Wolfram syndrome 1 (wolframin)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WHSC1L1 Wolf-Hirschhorn syndrome candidate 1-like 1
WIPF1 WAS/WASL interacting protein family, member 1
WNT3 wingless-type MMTV integration site family, member 3
WNT5A wingless-type MMTV integration site family, member 5A
WRAP53 WD repeat containing, antisense to TP53
WT1 Wilms tumor 1
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZBTB24 zinc finger and BTB domain containing 24
ZIC3 Zic family member 3
ZMYND10 zinc finger, MYND-type containing 10