generalized abnormality of skin Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the skin that is not localized to any one particular region. (Human Phenotype Ontology, HP_0011354)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011354
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Genes

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

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
AAAS achalasia, adrenocortical insufficiency, alacrimia
AAGAB alpha- and gamma-adaptin binding protein
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
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
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ABHD5 abhydrolase domain containing 5
ACP5 acid phosphatase 5, tartrate resistant
ACTC1 actin, alpha, cardiac muscle 1
ACTN2 actinin, alpha 2
ACVRL1 activin A receptor type II-like 1
ADA adenosine deaminase
ADAM17 ADAM metallopeptidase domain 17
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTSL2 ADAMTS-like 2
ADAR adenosine deaminase, RNA-specific
AGA aspartylglucosaminidase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGXT alanine-glyoxylate aminotransferase
AIP aryl hydrocarbon receptor interacting protein
AIRE autoimmune regulator
AK2 adenylate kinase 2
AKR1D1 aldo-keto reductase family 1, member D1
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT2 v-akt murine thymoma viral oncogene homolog 2
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALAD aminolevulinate dehydratase
ALAS2 5'-aminolevulinate synthase 2
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALDH1A1 aldehyde dehydrogenase 1 family, member A1
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALDOA aldolase A, fructose-bisphosphate
ALDOB aldolase B, fructose-bisphosphate
ALMS1 Alstrom syndrome protein 1
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
AMACR alpha-methylacyl-CoA racemase
ANK1 ankyrin 1, erythrocytic
ANKRD26 ankyrin repeat domain 26
ANOS1 anosmin 1
ANTXR1 anthrax toxin receptor 1
ANTXR2 anthrax toxin receptor 2
AP1S1 adaptor-related protein complex 1, sigma 1 subunit
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APC adenomatous polyposis coli
APCDD1 adenomatosis polyposis coli down-regulated 1
APOA1 apolipoprotein A-I
APOE apolipoprotein E
AQP5 aquaporin 5
ARHGAP31 Rho GTPase activating protein 31
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
ARMC5 armadillo repeat containing 5
ARSE arylsulfatase E (chondrodysplasia punctata 1)
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATL3 atlastin GTPase 3
ATM ATM serine/threonine kinase
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2C1 ATPase, Ca++ transporting, type 2C, member 1
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BAAT bile acid CoA:amino acid N-acyltransferase
BAG3 BCL2-associated athanogene 3
BANF1 barrier to autointegration factor 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)
BEST1 bestrophin 1
BLM Bloom syndrome, RecQ helicase-like
BLNK B-cell linker
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
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
C1R complement component 1, r subcomponent
C2 complement component 2
C2ORF71 chromosome 2 open reading frame 71
C4A complement component 4A (Rodgers blood group)
C5 complement component 5
C5ORF42 chromosome 5 open reading frame 42
C8ORF37 chromosome 8 open reading frame 37
CA4 carbonic anhydrase IV
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CALR calreticulin
CARD14 caspase recruitment domain family, member 14
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
CBS cystathionine-beta-synthase
CCBE1 collagen and calcium binding EGF domains 1
CCM2 cerebral cavernous malformation 2
CCR6 chemokine (C-C motif) receptor 6
CD19 CD19 molecule
CD3G CD3g molecule, gamma (CD3-TCR complex)
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CD81 CD81 molecule
CD96 CD96 molecule
CDAN1 codanin 1
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDHR1 cadherin-related family member 1
CDK4 cyclin-dependent kinase 4
CDKL5 cyclin-dependent kinase-like 5
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
CDSN corneodesmosin
CECR1 cat eye syndrome chromosome region, candidate 1
CENPJ centromere protein J
CEP126 centrosomal protein 126kDa
CEP152 centrosomal protein 152kDa
CEP57 centrosomal protein 57kDa
CERKL ceramide kinase-like
CERS3 ceramide synthase 3
CFI complement factor I
CHD2 chromodomain helicase DNA binding protein 2
CHD7 chromodomain helicase DNA binding protein 7
CHKB choline kinase beta
CHM choroideremia (Rab escort protein 1)
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CIDEC cell death-inducing DFFA-like effector c
CIITA class II, major histocompatibility complex, transactivator
CIRH1A cirrhosis, autosomal recessive 1A (cirhin)
CLCN7 chloride channel, voltage-sensitive 7
CLDN1 claudin 1
CLEC7A C-type lectin domain family 7, member A
CLIP2 CAP-GLY domain containing linker protein 2
CLRN1 clarin 1
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB1 cyclic nucleotide gated channel beta 1
COG6 component of oligomeric golgi complex 6
COL14A1 collagen, type XIV, alpha 1
COL17A1 collagen, type XVII, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL3A1 collagen, type III, alpha 1
COL4A5 collagen, type IV, alpha 5
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COL7A1 collagen, type VII, alpha 1
COMT catechol-O-methyltransferase
COX1
COX2
COX3
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
COX7B cytochrome c oxidase subunit VIIb
CPOX coproporphyrinogen oxidase
CR2 complement component (3d/Epstein Barr virus) receptor 2
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CREBBP CREB binding protein
CRX cone-rod homeobox
CRYAB crystallin, alpha B
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CSTA cystatin A (stefin A)
CTC1 CTS telomere maintenance complex component 1
CTGF connective tissue growth factor
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNS cystinosin, lysosomal cystine transporter
CTSA cathepsin A
CTSC cathepsin C
CUL4B cullin 4B
CYB5A cytochrome b5 type A (microsomal)
CYB5R3 cytochrome b5 reductase 3
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
CYLD cylindromatosis (turban tumor syndrome)
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DCLRE1C DNA cross-link repair 1C
DDB2 damage-specific DNA binding protein 2, 48kDa
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DES desmin
DGUOK deoxyguanosine kinase
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
DHFR dihydrofolate reductase
DKC1 dyskeratosis congenita 1, dyskerin
DMD dystrophin
DNASE1L3 deoxyribonuclease I-like 3
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
DSC2 desmocollin 2
DSG1 desmoglein 1
DSG2 desmoglein 2
DSG4 desmoglein 4
DSP desmoplakin
DST dystonin
DTNBP1 dystrobrevin binding protein 1
DUSP6 dual specificity phosphatase 6
EBP emopamil binding protein (sterol isomerase)
ECM1 extracellular matrix protein 1
EDA ectodysplasin A
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
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
ENG endoglin
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
EPOR erythropoietin receptor
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
ERCC8 excision repair cross-complementation group 8
ERF Ets2 repressor factor
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
ETHE1 ethylmalonic encephalopathy 1
EXPH5 exophilin 5
EXT1 exostosin glycosyltransferase 1
EYS eyes shut homolog (Drosophila)
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
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)
F8 coagulation factor VIII, procoagulant component
FAM111B family with sequence similarity 111, member B
FAM161A family with sequence similarity 161, 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
FECH ferrochelatase
FERMT1 fermitin family member 1
FERMT3 fermitin family member 3
FEZF1 FEZ family zinc finger 1
FGA fibrinogen alpha 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
FH fumarate hydratase
FHL2 four and a half LIM domains 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP10 FK506 binding protein 10, 65 kDa
FKBP14 FK506 binding protein 14, 22 kDa
FKTN fukutin
FLG filaggrin
FLNA filamin A, alpha
FLRT3 fibronectin leucine rich transmembrane protein 3
FLT4 fms-related tyrosine kinase 4
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXC1 forkhead box C1
FOXG1 forkhead box G1
FOXP3 forkhead box P3
FSCN2 fascin actin-bundling protein 2, retinal
FTO fat mass and obesity associated
FUCA1 fucosidase, alpha-L- 1, tissue
G6PD glucose-6-phosphate dehydrogenase
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALE UDP-galactose-4-epimerase
GALK1 galactokinase 1
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GATA3 GATA binding protein 3
GATAD1 GATA zinc finger domain containing 1
GBA glucosidase, beta, acid
GDF2 growth differentiation factor 2
GFI1B growth factor independent 1B transcription repressor
GGCX gamma-glutamyl carboxylase
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GJB2 gap junction protein, beta 2, 26kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GJB6 gap junction protein, beta 6, 30kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GLUL glutamate-ammonia ligase
GMPPA GDP-mannose pyrophosphorylase A
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GORAB golgin, RAB6-interacting
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
GPR143 G protein-coupled receptor 143
GSN gelsolin
GTF2H5 general transcription factor IIH, polypeptide 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCA1B guanylate cyclase activator 1B (retina)
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HAMP hepcidin antimicrobial peptide
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HBG1 hemoglobin, gamma A
HBG2 hemoglobin, gamma G
HCCS holocytochrome c synthase
HDAC4 histone deacetylase 4
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
HESX1 HESX homeobox 1
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HGD homogentisate 1,2-dioxygenase
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
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HMGA2 high mobility group AT-hook 2
HOXA11 homeobox A11
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HPS1 Hermansky-Pudlak syndrome 1
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
HR hair growth associated
HRAS Harvey rat sarcoma viral oncogene homolog
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
ICOS inducible T-cell co-stimulator
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IDUA iduronidase, alpha-L-
IFIH1 interferon induced with helicase C domain 1
IFT43 intraflagellar transport 43
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
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL10RA interleukin 10 receptor, alpha
IL12RB2 interleukin 12 receptor, beta 2
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
IL17RD interleukin 17 receptor D
IL1RN interleukin 1 receptor antagonist
IL23R interleukin 23 receptor
IL2RG interleukin 2 receptor, gamma
IL31RA interleukin 31 receptor A
IL36RN interleukin 36 receptor antagonist
IL6 interleukin 6
IL7R interleukin 7 receptor
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INSR insulin receptor
IRF5 interferon regulatory factor 5
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
ITGA6 integrin, alpha 6
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITGB4 integrin, beta 4
JAG1 jagged 1
JAK2 Janus kinase 2
JUP junction plakoglobin
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KIAA0319L KIAA0319-like
KIF11 kinesin family member 11
KIF22 kinesin family member 22
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KIZ kizuna centrosomal protein
KLF1 Kruppel-like factor 1 (erythroid)
KLHL7 kelch-like family member 7
KLLN killin, p53-regulated DNA replication inhibitor
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT1 keratin 1, type II
KRT10 keratin 10, type I
KRT14 keratin 14, type I
KRT16 keratin 16, type I
KRT17 keratin 17, type I
KRT18 keratin 18, type I
KRT2 keratin 2, type II
KRT5 keratin 5, type II
KRT6A keratin 6A, type II
KRT6B keratin 6B, type II
KRT6C keratin 6C, type II
KRT8 keratin 8, type II
KRT81 keratin 81, type II
KRT83 keratin 83, type II
KRT85 keratin 85, type II
KRT86 keratin 86, type II
KRT9 keratin 9, type I
LAMA3 laminin, alpha 3
LAMA4 laminin, alpha 4
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LBR lamin B receptor
LDB3 LIM domain binding 3
LEMD3 LEM domain containing 3
LHCGR luteinizing hormone/choriogonadotropin receptor
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LIPA lipase A, lysosomal acid, cholesterol esterase
LIPH lipase, member H
LIPN lipase, family member N
LMBRD1 LMBR1 domain containing 1
LMNA lamin A/C
LMNB2 lamin B2
LOR loricrin
LPAR6 lysophosphatidic acid receptor 6
LPIN2 lipin 2
LPL lipoprotein lipase
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRRC8A leucine rich repeat containing 8 family, member A
LTBP2 latent transforming growth factor beta binding protein 2
LTBP4 latent transforming growth factor beta binding protein 4
LYST lysosomal trafficking regulator
LYZ lysozyme
MAK male germ cell-associated kinase
MANBA mannosidase, beta A, lysosomal
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MASTL microtubule associated serine/threonine kinase-like
MBTPS2 membrane-bound transcription factor peptidase, site 2
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MCOLN1 mucolipin 1
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEFV Mediterranean fever
MEGF8 multiple EGF-like-domains 8
MEIS2 Meis homeobox 2
MEN1 multiple endocrine neoplasia I
MERTK MER proto-oncogene, tyrosine kinase
MFRP membrane frizzled-related protein
MGP matrix Gla protein
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MITF microphthalmia-associated transcription factor
MLH1 mutL homolog 1
MLPH melanophilin
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MMP1 matrix metallopeptidase 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MNX1 motor neuron and pancreas homeobox 1
MPL MPL proto-oncogene, thrombopoietin receptor
MPST mercaptopyruvate sulfurtransferase
MPV17 MpV17 mitochondrial inner membrane protein
MRAP melanocortin 2 receptor accessory protein
MRPS16 mitochondrial ribosomal protein S16
MRPS22 mitochondrial ribosomal protein S22
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
MVK mevalonate kinase
MYBPC3 myosin binding protein C, cardiac
MYD88 myeloid differentiation primary response 88
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYH9 myosin, heavy chain 9, non-muscle
MYO5A myosin VA (heavy chain 12, myoxin)
MYPN myopalladin
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGA N-acetylgalactosaminidase, alpha-
NBAS neuroblastoma amplified sequence
NBEAL2 neurobeachin-like 2
NBN nibrin
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
NCSTN nicastrin
ND1
NDN necdin, melanoma antigen (MAGE) family member
NEK2 NIMA-related kinase 2
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)
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NHP2 NHP2 ribonucleoprotein
NIPAL4 NIPA-like domain containing 4
NIPBL Nipped-B homolog (Drosophila)
NLRP1 NLR family, pyrin domain containing 1
NLRP12 NLR family, pyrin domain containing 12
NLRP3 NLR family, pyrin domain containing 3
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
NPR2 natriuretic peptide receptor 2
NR0B1 nuclear receptor subfamily 0, group B, member 1
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
NTNG1 netrin G1
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OCA2 oculocutaneous albinism II
OCLN occludin
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
ORAI1 ORAI calcium release-activated calcium modulator 1
OSMR oncostatin M receptor
OTX2 orthodenticle homeobox 2
P2RY12 purinergic receptor P2Y, G-protein coupled, 12
PAH phenylalanine hydroxylase
PALB2 partner and localizer of BRCA2
PANK2 pantothenate kinase 2
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PAX2 paired box 2
PAX3 paired box 3
PAX6 paired box 6
PAX8 paired box 8
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PCNA proliferating cell nuclear antigen
PCNT pericentrin
PDE11A phosphodiesterase 11A
PDE4D phosphodiesterase 4D, cAMP-specific
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDE8B phosphodiesterase 8B
PDGFB platelet-derived growth factor beta polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 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
PFKM phosphofructokinase, muscle
PGM3 phosphoglucomutase 3
PHGDH phosphoglycerate dehydrogenase
PHYH phytanoyl-CoA 2-hydroxylase
PI3 peptidase inhibitor 3, skin-derived
PIEZO1 piezo-type mechanosensitive ion channel component 1
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PITX2 paired-like homeodomain 2
PKLR pyruvate kinase, liver and RBC
PKP1 plakophilin 1
PLAU plasminogen activator, urokinase
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLEC plectin
PLIN1 perilipin 1
PLN phospholamban
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PMM2 phosphomannomutase 2
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNPLA1 patatin-like phospholipase domain containing 1
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLE polymerase (DNA directed), epsilon, catalytic subunit
POLH polymerase (DNA directed), eta
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMP proteasome maturation protein
PORCN porcupine homolog (Drosophila)
POT1 protection of telomeres 1
POU1F1 POU class 1 homeobox 1
PPARG peroxisome proliferator-activated receptor gamma
PPOX protoporphyrinogen oxidase
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PRCD progressive rod-cone degeneration
PRDM16 PR domain containing 16
PRDM5 PR domain containing 5
PRF1 perforin 1 (pore forming protein)
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCD protein kinase C, delta
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PROM1 prominin 1
PROS1 protein S (alpha)
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)
PRTN3 proteinase 3
PSAT1 phosphoserine aminotransferase 1
PSEN1 presenilin 1
PSEN2 presenilin 2
PSENEN presenilin enhancer gamma secretase subunit
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PTCH1 patched 1
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTF1A pancreas specific transcription factor, 1a
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPN3 protein tyrosine phosphatase, non-receptor type 3
PTPRC protein tyrosine phosphatase, receptor type, C
PTRF polymerase I and transcript release factor
PUS1 pseudouridylate synthase 1
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PVRL4 poliovirus receptor-related 4
PYCR1 pyrroline-5-carboxylate reductase 1
RAB27A RAB27A, 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
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RBBP8 retinoblastoma binding protein 8
RBCK1 RanBP-type and C3HC4-type zinc finger containing 1
RBM20 RNA binding motif protein 20
RBM28 RNA binding motif protein 28
RBM8A RNA binding motif protein 8A
RBP3 retinol binding protein 3, interstitial
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RECQL4 RecQ protein-like 4
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
RHAG Rh-associated glycoprotein
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
RHO rhodopsin
RIN2 Ras and Rab interactor 2
RIT1 Ras-like without CAAX 1
RLBP1 retinaldehyde binding protein 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNF168 ring finger protein 168, E3 ubiquitin protein ligase
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROM1 retinal outer segment membrane protein 1
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
RPL11 ribosomal protein L11
RPL15 ribosomal protein L15
RPL21 ribosomal protein L21
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
RSPO1 R-spondin 1
RTEL1 regulator of telomere elongation helicase 1
RUNX1 runt-related transcription factor 1
SAG S-antigen; retina and pineal gland (arrestin)
SAMHD1 SAM domain and HD domain 1
SART3 squamous cell carcinoma antigen recognized by T cells 3
SAT1 spermidine/spermine N1-acetyltransferase 1
SBDS Shwachman-Bodian-Diamond syndrome
SCARB2 scavenger receptor class B, member 2
SCN2A sodium channel, voltage gated, type II alpha subunit
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
SEC23A Sec23 homolog A (S. cerevisiae)
SEC23B Sec23 homolog B (S. cerevisiae)
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SEPT9 septin 9
SERPINB7 serpin peptidase inhibitor, clade B (ovalbumin), member 7
SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SETX senataxin
SF3B4 splicing factor 3b, subunit 4, 49kDa
SFTPB surfactant protein B
SFTPC surfactant protein C
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SH2B3 SH2B adaptor protein 3
SH3BP2 SH3-domain binding protein 2
SH3PXD2B SH3 and PX domains 2B
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SKI SKI proto-oncogene
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC30A2 solute carrier family 30 (zinc transporter), member 2
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
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC45A2 solute carrier family 45, member 2
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC7A14 solute carrier family 7, member 14
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SLCO1B1 solute carrier organic anion transporter family, member 1B1
SLCO1B3 solute carrier organic anion transporter family, member 1B3
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLURP1 secreted LY6/PLAUR domain containing 1
SLX4 SLX4 structure-specific endonuclease subunit
SMAD3 SMAD family member 3
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
SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
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
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNAI2 snail family zinc finger 2
SNAP29 synaptosomal-associated protein, 29kDa
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SNRPE small nuclear ribonucleoprotein polypeptide E
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
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SPATA7 spermatogenesis associated 7
SPINK5 serine peptidase inhibitor, Kazal type 5
SPRED1 sprouty-related, EVH1 domain containing 1
SPRY4 sprouty homolog 4 (Drosophila)
SPTB spectrin, beta, erythrocytic
SRD5A3 steroid 5 alpha-reductase 3
ST14 suppression of tumorigenicity 14 (colon carcinoma)
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
STIM1 stromal interaction molecule 1
STK11 serine/threonine kinase 11
STS steroid sulfatase (microsomal), isozyme S
SUMF1 sulfatase modifying factor 1
SUOX sulfite oxidase
TACR3 tachykinin receptor 3
TALDO1 transaldolase 1
TAT tyrosine aminotransferase
TAZ tafazzin
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBXAS1 thromboxane A synthase 1 (platelet)
TCAP titin-cap
TCF3 transcription factor 3
TCF4 transcription factor 4
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFR2 transferrin receptor 2
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)
TGM1 transglutaminase 1
TGM5 transglutaminase 5
THPO thrombopoietin
THRA thyroid hormone receptor, alpha
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TJP2 tight junction protein 2
TLR4 toll-like receptor 4
TMC6 transmembrane channel-like 6
TMC8 transmembrane channel-like 8
TMEM173 transmembrane protein 173
TMPO thymopoietin
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
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
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TP63 tumor protein p63
TPI1 triosephosphate isomerase 1
TPM1 tropomyosin 1 (alpha)
TRAF3IP2 TRAF3 interacting protein 2
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TREX1 three prime repair exonuclease 1
TRH thyrotropin-releasing hormone
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
TRPM1 transient receptor potential cation channel, subfamily M, member 1
TRPS1 trichorhinophalangeal syndrome I
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TTC37 tetratricopeptide repeat domain 37
TTC8 tetratricopeptide repeat domain 8
TTN titin
TUB tubby bipartite transcription factor
TUBGCP6 tubulin, gamma complex associated protein 6
TULP1 tubby like protein 1
TWIST2 twist family bHLH transcription factor 2
TXNRD2 thioredoxin reductase 2
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
UBE2A ubiquitin-conjugating enzyme E2A
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
UFD1L ubiquitin fusion degradation 1 like (yeast)
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UROD uroporphyrinogen decarboxylase
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
USH2A Usher syndrome 2A (autosomal recessive, mild)
UVSSA UV-stimulated scaffold protein A
VCL vinculin
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS33B vacuolar protein sorting 33 homolog B (yeast)
VWF von Willebrand factor
WAS Wiskott-Aldrich syndrome
WDR11 WD repeat domain 11
WDR19 WD repeat domain 19
WIPF1 WAS/WASL interacting protein family, member 1
WNT10A wingless-type MMTV integration site family, member 10A
WNT4 wingless-type MMTV integration site family, member 4
WRAP53 WD repeat containing, antisense to TP53
WRN Werner syndrome, RecQ helicase-like
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZMPSTE24 zinc metallopeptidase STE24
ZNF469 zinc finger protein 469
ZNF513 zinc finger protein 513
ZNF750 zinc finger protein 750