abnormality of the nose Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the nose. (Human Phenotype Ontology, HP_0000366)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000366
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Genes

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

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACAN aggrecan
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACP5 acid phosphatase 5, tartrate resistant
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTB actin, beta
ACTG1 actin gamma 1
ACTG2 actin, gamma 2, smooth muscle, enteric
ACTN1 actinin, alpha 1
ACVRL1 activin A receptor type II-like 1
ACY1 aminoacylase 1
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTSL2 ADAMTS-like 2
ADNP activity-dependent neuroprotector homeobox
ADSL adenylosuccinate lyase
AFF2 AF4/FMR2 family, member 2
AGA aspartylglucosaminidase
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AHDC1 AT hook, DNA binding motif, containing 1
AHI1 Abelson helper integration site 1
AICDA activation-induced cytidine deaminase
AIP aryl hydrocarbon receptor interacting protein
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALX1 ALX homeobox 1
ALX3 ALX homeobox 3
ALX4 ALX homeobox 4
AMER1 APC membrane recruitment protein 1
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
ANK1 ankyrin 1, erythrocytic
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
ANOS1 anosmin 1
ANTXR1 anthrax toxin receptor 1
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP4B1 adaptor-related protein complex 4, beta 1 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4S1 adaptor-related protein complex 4, sigma 1 subunit
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL13B ADP-ribosylation factor-like 13B
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
ARMC4 armadillo repeat containing 4
ARSB arylsulfatase B
ARSE arylsulfatase E (chondrodysplasia punctata 1)
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ARX aristaless related homeobox
ASPH aspartate beta-hydroxylase
ASXL1 additional sex combs like transcriptional regulator 1
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATM ATM serine/threonine kinase
ATP13A2 ATPase type 13A2
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
ATRX alpha thalassemia/mental retardation syndrome X-linked
AVP arginine vasopressin
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BANF1 barrier to autointegration factor 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBIP1 BBSome interacting protein 1
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
BCOR BCL6 corepressor
BCR breakpoint cluster region
BEST1 bestrophin 1
BLM Bloom syndrome, RecQ helicase-like
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BMPER BMP binding endothelial regulator
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C12ORF57 chromosome 12 open reading frame 57
C1R complement component 1, r subcomponent
C21ORF59 chromosome 21 open reading frame 59
C2ORF71 chromosome 2 open reading frame 71
C5ORF42 chromosome 5 open reading frame 42
C8ORF37 chromosome 8 open reading frame 37
CA4 carbonic anhydrase IV
CAMKMT calmodulin-lysine N-methyltransferase
CAMTA1 calmodulin binding transcription activator 1
CANT1 calcium activated nucleotidase 1
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
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
CCDC22 coiled-coil domain containing 22
CCDC65 coiled-coil domain containing 65
CCDC8 coiled-coil domain containing 8
CCND2 cyclin D2
CD19 CD19 molecule
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CD96 CD96 molecule
CDHR1 cadherin-related family member 1
CDKL5 cyclin-dependent kinase-like 5
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CENPJ centromere protein J
CEP152 centrosomal protein 152kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CEP57 centrosomal protein 57kDa
CERKL ceramide kinase-like
CFI complement factor I
CHD7 chromodomain helicase DNA binding protein 7
CHL1 cell adhesion molecule L1-like
CHN1 chimerin 1
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CIITA class II, major histocompatibility complex, transactivator
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLCF1 cardiotrophin-like cytokine factor 1
CLIP2 CAP-GLY domain containing linker protein 2
CLP1 cleavage and polyadenylation factor I subunit 1
CLRN1 clarin 1
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB1 cyclic nucleotide gated channel beta 1
CNTN4 contactin 4
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL18A1 collagen, type XVIII, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL27A1 collagen, type XXVII, alpha 1
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COLEC11 collectin sub-family member 11
COMT catechol-O-methyltransferase
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
COX7B cytochrome c oxidase subunit VIIb
CPT2 carnitine palmitoyltransferase 2
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRBN cereblon
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRLF1 cytokine receptor-like factor 1
CRX cone-rod homeobox
CSPP1 centrosome and spindle pole associated protein 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNND2 catenin (cadherin-associated protein), delta 2
CTSD cathepsin D
CTSK cathepsin K
CUL7 cullin 7
CXCR4 chemokine (C-X-C motif) receptor 4
DCAF17 DDB1 and CUL4 associated factor 17
DCHS1 dachsous cadherin-related 1
DCLRE1C DNA cross-link repair 1C
DDR2 discoidin domain receptor tyrosine kinase 2
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
DHODH dihydroorotate dehydrogenase (quinone)
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DLL3 delta-like 3 (Drosophila)
DNA2 DNA replication helicase/nuclease 2
DNAAF1 dynein, axonemal, assembly factor 1
DNAAF2 dynein, axonemal, assembly factor 2
DNAAF3 dynein, axonemal, assembly factor 3
DNAAF5 dynein, axonemal, assembly factor 5
DNAI1 dynein, axonemal, intermediate chain 1
DNAI2 dynein, axonemal, intermediate chain 2
DNAL1 dynein, axonemal, light chain 1
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOCK6 dedicator of cytokinesis 6
DOCK7 dedicator of cytokinesis 7
DOK7 docking protein 7
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DUSP6 dual specificity phosphatase 6
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EBP emopamil binding protein (sterol isomerase)
ECE1 endothelin converting enzyme 1
ECEL1 endothelin converting enzyme-like 1
ECM1 extracellular matrix protein 1
EDA ectodysplasin A
EDA2R ectodysplasin A2 receptor
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EDN3 endothelin 3
EDNRB endothelin receptor type B
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFNB1 ephrin-B1
EFTUD2 elongation factor Tu GTP binding domain containing 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EIF4A3 eukaryotic translation initiation factor 4A3
ELN elastin
EMG1 EMG1 N1-specific pseudouridine methyltransferase
ENG endoglin
EP300 E1A binding protein p300
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
EPOR erythropoietin receptor
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ERF Ets2 repressor factor
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
EWSR1 EWS RNA-binding protein 1
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EYA1 EYA transcriptional coactivator and phosphatase 1
EYS eyes shut homolog (Drosophila)
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
F10 coagulation factor X
F13A1 coagulation factor XIII, A1 polypeptide
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
FAM111A family with sequence similarity 111, member A
FAM161A family with sequence similarity 161, member A
FAM20C family with sequence similarity 20, member C
FAM58A family with sequence similarity 58, 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
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FBXL4 F-box and leucine-rich repeat protein 4
FBXO31 F-box protein 31
FERMT3 fermitin family member 3
FEZF1 FEZ family zinc finger 1
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF10 fibroblast growth factor 10
FGF17 fibroblast growth factor 17
FGF20 fibroblast growth factor 20
FGF3 fibroblast growth factor 3
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGG fibrinogen gamma chain
FH fumarate hydratase
FIG4 FIG4 phosphoinositide 5-phosphatase
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FLRT3 fibronectin leucine rich transmembrane protein 3
FMR1 fragile X mental retardation 1
FOXC1 forkhead box C1
FOXE1 forkhead box E1
FOXG1 forkhead box G1
FOXL2 forkhead box L2
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
FSCN2 fascin actin-bundling protein 2, retinal
FTO fat mass and obesity associated
FTSJ1 FtsJ RNA methyltransferase homolog 1 (E. coli)
FUCA1 fucosidase, alpha-L- 1, tissue
G6PC3 glucose 6 phosphatase, catalytic, 3
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALNS galactosamine (N-acetyl)-6-sulfatase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GATA6 GATA binding protein 6
GBA glucosidase, beta, acid
GCK glucokinase (hexokinase 4)
GDF1 growth differentiation factor 1
GDF2 growth differentiation factor 2
GDF5 growth differentiation factor 5
GFI1B growth factor independent 1B transcription repressor
GGCX gamma-glutamyl carboxylase
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GJA5 gap junction protein, alpha 5, 40kDa
GLB1 galactosidase, beta 1
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GLUL glutamate-ammonia ligase
GNAS GNAS complex locus
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNPAT glyceronephosphate O-acyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GNS glucosamine (N-acetyl)-6-sulfatase
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GP1BB glycoprotein Ib (platelet), beta polypeptide
GP6 glycoprotein VI (platelet)
GP9 glycoprotein IX (platelet)
GPC3 glypican 3
GPC4 glypican 4
GPC6 glypican 6
GRIP1 glutamate receptor interacting protein 1
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCA1B guanylate cyclase activator 1B (retina)
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HCCS holocytochrome c synthase
HDAC4 histone deacetylase 4
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
HES7 hes family bHLH transcription factor 7
HESX1 HESX homeobox 1
HGD homogentisate 1,2-dioxygenase
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HIC1 hypermethylated in cancer 1
HIRA histone cell cycle regulator
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HMGA2 high mobility group AT-hook 2
HOXB1 homeobox B1
HOXD13 homeobox D13
HPS1 Hermansky-Pudlak syndrome 1
HPS6 Hermansky-Pudlak syndrome 6
HRAS Harvey rat sarcoma viral oncogene homolog
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPG2 heparan sulfate proteoglycan 2
HYAL1 hyaluronoglucosaminidase 1
HYDIN HYDIN, axonemal central pair apparatus protein
HYLS1 hydrolethalus syndrome 1
ICK intestinal cell (MAK-like) kinase
ICOS inducible T-cell co-stimulator
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IDUA iduronidase, alpha-L-
IFT122 intraflagellar transport 122
IFT27 intraflagellar transport 27
IFT43 intraflagellar transport 43
IFT80 intraflagellar transport 80
IGBP1 immunoglobulin (CD79A) binding protein 1
IGF1R insulin-like growth factor 1 receptor
IGHM immunoglobulin heavy constant mu
IL17RD interleukin 17 receptor D
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
IL21R interleukin 21 receptor
IL2RG interleukin 2 receptor, gamma
IMPAD1 inositol monophosphatase domain containing 1
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INPPL1 inositol polyphosphate phosphatase-like 1
INS insulin
INSR insulin receptor
IRF6 interferon regulatory factor 6
IRX5 iroquois homeobox 5
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGA8 integrin, alpha 8
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITGB4 integrin, beta 4
JAG1 jagged 1
JAK2 Janus kinase 2
JAK3 Janus kinase 3
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCTD1 potassium channel tetramerization domain containing 1
KDM5C lysine (K)-specific demethylase 5C
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIAA2022 KIAA2022
KIF11 kinesin family member 11
KIF1BP KIF1 binding protein
KIF22 kinesin family member 22
KIF7 kinesin family member 7
KISS1 KiSS-1 metastasis-suppressor
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KIZ kizuna centrosomal protein
KLHL7 kelch-like family member 7
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
KPTN kaptin (actin binding protein)
KRAS Kirsten rat sarcoma viral oncogene homolog
LARP7 La ribonucleoprotein domain family, member 7
LBR lamin B receptor
LEMD3 LEM domain containing 3
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
LINS lines homolog (Drosophila)
LMBR1 limb development membrane protein 1
LMNA lamin A/C
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRP2 low density lipoprotein receptor-related protein 2
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
LRPPRC leucine-rich pentatricopeptide repeat containing
LRRC6 leucine rich repeat containing 6
LRRK2 leucine-rich repeat kinase 2
LTBP4 latent transforming growth factor beta binding protein 4
LYST lysosomal trafficking regulator
LZTFL1 leucine zipper transcription factor-like 1
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAK male germ cell-associated kinase
MAN1B1 mannosidase, alpha, class 1B, member 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPK1 mitogen-activated protein kinase 1
MATR3 matrin 3
MBD5 methyl-CpG binding domain protein 5
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCFD2 multiple coagulation factor deficiency 2
MCOLN1 mucolipin 1
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEF2C myocyte enhancer factor 2C
MEGF8 multiple EGF-like-domains 8
MEIS2 Meis homeobox 2
MERTK MER proto-oncogene, tyrosine kinase
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
METTL23 methyltransferase like 23
MFN2 mitofusin 2
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGP matrix Gla protein
MID1 midline 1
MIPOL1 mirror-image polydactyly 1
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MOGS mannosyl-oligosaccharide glucosidase
MPL MPL proto-oncogene, thrombopoietin receptor
MPLKIP M-phase specific PLK1 interacting protein
MPST mercaptopyruvate sulfurtransferase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYD88 myeloid differentiation primary response 88
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH9 myosin, heavy chain 9, non-muscle
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGA N-acetylgalactosaminidase, alpha-
NAGLU N-acetylglucosaminidase, alpha
NALCN sodium leak channel, non selective
NBEAL2 neurobeachin-like 2
NBN nibrin
NCF4 neutrophil cytosolic factor 4, 40kDa
NDE1 nudE neurodevelopment protein 1
NDN necdin, melanoma antigen (MAGE) family member
NDP Norrie disease (pseudoglioma)
NEK2 NIMA-related kinase 2
NELFA negative elongation factor complex member A
NEU1 sialidase 1 (lysosomal sialidase)
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NHEJ1 nonhomologous end-joining factor 1
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NIN ninein (GSK3B interacting protein)
NIPBL Nipped-B homolog (Drosophila)
NKX2-5 NK2 homeobox 5
NLRP3 NLR family, pyrin domain containing 3
NME8 NME/NM23 family member 8
NOG noggin
NOTCH2 notch 2
NPHP1 nephronophthisis 1 (juvenile)
NPR2 natriuretic peptide receptor 2
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRL neural retina leucine zipper
NSD1 nuclear receptor binding SET domain protein 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OBSL1 obscurin-like 1
OCLN occludin
OFD1 oral-facial-digital syndrome 1
OPHN1 oligophrenin 1
ORC4 origin recognition complex, subunit 4
OTX2 orthodenticle homeobox 2
P2RY12 purinergic receptor P2Y, G-protein coupled, 12
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PALB2 partner and localizer of BRCA2
PAX1 paired box 1
PAX3 paired box 3
PCNT pericentrin
PDE4D phosphodiesterase 4D, cAMP-specific
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PEPD peptidase D
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
PEX7 peroxisomal biogenesis factor 7
PGAP3 post-GPI attachment to proteins 3
PGM3 phosphoglucomutase 3
PHF8 PHD finger protein 8
PHGDH phosphoglycerate dehydrogenase
PHYH phytanoyl-CoA 2-hydroxylase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PITX2 paired-like homeodomain 2
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLAU plasminogen activator, urokinase
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLEC plectin
PLG plasminogen
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PMM2 phosphomannomutase 2
PNP purine nucleoside phosphorylase
POC1A POC1 centriolar protein A
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POR P450 (cytochrome) oxidoreductase
PORCN porcupine homolog (Drosophila)
POU1F1 POU class 1 homeobox 1
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B
PQBP1 polyglutamine binding protein 1
PRCD progressive rod-cone degeneration
PRDM16 PR domain containing 16
PREPL prolyl endopeptidase-like
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PROM1 prominin 1
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF4 pre-mRNA processing factor 4
PRPF6 pre-mRNA processing factor 6
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRRX1 paired related homeobox 1
PRTN3 proteinase 3
PSAT1 phosphoserine aminotransferase 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTCH1 patched 1
PTCH2 patched 2
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTF1A pancreas specific transcription factor, 1a
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN14 protein tyrosine phosphatase, non-receptor type 14
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPRF protein tyrosine phosphatase, receptor type, F
PUF60 poly-U binding splicing factor 60KDa
PUS1 pseudouridylate synthase 1
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PYCR1 pyrroline-5-carboxylate reductase 1
RAB18 RAB18, member RAS oncogene family
RAB23 RAB23, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAB40AL RAB40A, member RAS oncogene family-like
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RAPSN receptor-associated protein of the synapse
RARB retinoic acid receptor, beta
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RASGRP2 RAS guanyl releasing protein 2 (calcium and DAG-regulated)
RB1 retinoblastoma 1
RBBP8 retinoblastoma binding protein 8
RBM10 RNA binding motif protein 10
RBM8A RNA binding motif protein 8A
RBP3 retinol binding protein 3, interstitial
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RECQL4 RecQ protein-like 4
RELN reelin
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
RGR retinal G protein coupled receptor
RHO rhodopsin
RIPK4 receptor-interacting serine-threonine kinase 4
RLBP1 retinaldehyde binding protein 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNASEH2A ribonuclease H2, subunit A
RNF135 ring finger protein 135
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROM1 retinal outer segment membrane protein 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP2 retinitis pigmentosa 2 (X-linked recessive)
RP9 retinitis pigmentosa 9 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
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
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RPS7 ribosomal protein S7
RSPH1 radial spoke head 1 homolog (Chlamydomonas)
RSPH4A radial spoke head 4 homolog A (Chlamydomonas)
RSPH9 radial spoke head 9 homolog (Chlamydomonas)
RUNX1 runt-related transcription factor 1
RUNX2 runt-related transcription factor 2
SAG S-antigen; retina and pineal gland (arrestin)
SALL4 spalt-like transcription factor 4
SATB2 SATB homeobox 2
SC5D sterol-C5-desaturase
SCARF2 scavenger receptor class F, member 2
SCN4A sodium channel, voltage gated, type IV 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
SCP2 sterol carrier protein 2
SDCCAG8 serologically defined colon cancer antigen 8
SEC23A Sec23 homolog A (S. cerevisiae)
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SEPT9 septin 9
SETBP1 SET binding protein 1
SETD5 SET domain containing 5
SF3B4 splicing factor 3b, subunit 4, 49kDa
SGSH N-sulfoglucosamine sulfohydrolase
SH2D1A SH2 domain containing 1A
SH3PXD2B SH3 and PX domains 2B
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHH sonic hedgehog
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SHOX short stature homeobox
SIM1 single-minded family bHLH transcription factor 1
SIX3 SIX homeobox 3
SIX6 SIX homeobox 6
SKI SKI proto-oncogene
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC7A14 solute carrier family 7, member 14
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
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
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMOC1 SPARC related modular calcium binding 1
SNAI2 snail family zinc finger 2
SNAP29 synaptosomal-associated protein, 29kDa
SNIP1 Smad nuclear interacting protein 1
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SNRPN small nuclear ribonucleoprotein polypeptide N
SOS1 son of sevenless homolog 1 (Drosophila)
SOST sclerostin
SOX10 SRY (sex determining region Y)-box 10
SOX11 SRY (sex determining region Y)-box 11
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SOX9 SRY (sex determining region Y)-box 9
SP7 Sp7 transcription factor
SPAG1 sperm associated antigen 1
SPATA7 spermatogenesis associated 7
SPINT2 serine peptidase inhibitor, Kunitz type, 2
SPRY4 sprouty homolog 4 (Drosophila)
SRCAP Snf2-related CREBBP activator protein
SRD5A3 steroid 5 alpha-reductase 3
STAMBP STAM binding protein
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STIM1 stromal interaction molecule 1
STK11 serine/threonine kinase 11
STRA6 stimulated by retinoic acid 6
STRADA STE20-related kinase adaptor alpha
STS steroid sulfatase (microsomal), isozyme S
SUFU suppressor of fused homolog (Drosophila)
SULF1 sulfatase 1
SUMF1 sulfatase modifying factor 1
TAC3 tachykinin 3
TACR3 tachykinin receptor 3
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)
TBC1D20 TBC1 domain family, member 20
TBC1D24 TBC1 domain family, member 24
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX2 T-box 2
TBX21 T-box 21
TBX4 T-box 4
TBX6 T-box 6
TBXAS1 thromboxane A synthase 1 (platelet)
TCF4 transcription factor 4
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TET2 tet methylcytosine dioxygenase 2
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGIF1 TGFB-induced factor homeobox 1
THOC6 THO complex 6
THRB thyroid hormone receptor, beta
TMCO1 transmembrane and coiled-coil domains 1
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
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
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TP53 tumor protein p53
TP63 tumor protein p63
TPM2 tropomyosin 2 (beta)
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRAPPC9 trafficking protein particle complex 9
TRIM32 tripartite motif containing 32
TRIM37 tripartite motif containing 37
TRIP11 thyroid hormone receptor interactor 11
TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae)
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSHB thyroid stimulating hormone, beta
TTC37 tetratricopeptide repeat domain 37
TTC8 tetratricopeptide repeat domain 8
TTI2 TELO2 interacting protein 2
TUB tubby bipartite transcription factor
TUBGCP6 tubulin, gamma complex associated protein 6
TULP1 tubby like protein 1
TWIST1 twist family bHLH transcription factor 1
TWIST2 twist family bHLH transcription factor 2
UBA1 ubiquitin-like modifier activating enzyme 1
UBE2A ubiquitin-conjugating enzyme E2A
UBE3B ubiquitin protein ligase E3B
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)
UNG uracil-DNA glycosylase
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VPS33B vacuolar protein sorting 33 homolog B (yeast)
VWF von Willebrand factor
WAS Wiskott-Aldrich syndrome
WDPCP WD repeat containing planar cell polarity effector
WDR11 WD repeat domain 11
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WHSC1 Wolf-Hirschhorn syndrome candidate 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
WNT7A wingless-type MMTV integration site family, member 7A
WRN Werner syndrome, RecQ helicase-like
WT1 Wilms tumor 1
XYLT1 xylosyltransferase I
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZBTB18 zinc finger and BTB domain containing 18
ZBTB24 zinc finger and BTB domain containing 24
ZDHHC15 zinc finger, DHHC-type containing 15
ZDHHC9 zinc finger, DHHC-type containing 9
ZEB2 zinc finger E-box binding homeobox 2
ZFPM2 zinc finger protein, FOG family member 2
ZIC2 Zic family member 2
ZMPSTE24 zinc metallopeptidase STE24
ZMYND10 zinc finger, MYND-type containing 10
ZNF335 zinc finger protein 335
ZNF423 zinc finger protein 423
ZNF513 zinc finger protein 513
ZSWIM6 zinc finger, SWIM-type containing 6