abnormality of skin adnexa Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. (Human Phenotype Ontology, HP_0011138)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011138
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Genes

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

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
AAGAB alpha- and gamma-adaptin binding protein
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABHD5 abhydrolase domain containing 5
ACTB actin, beta
ACTG1 actin gamma 1
ACTG2 actin, gamma 2, smooth muscle, enteric
ACVR1 activin A receptor, type I
ACVRL1 activin A receptor type II-like 1
ADA adenosine deaminase
ADAM17 ADAM metallopeptidase domain 17
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTSL2 ADAMTS-like 2
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AHI1 Abelson helper integration site 1
AIP aryl hydrocarbon receptor interacting protein
AIRE autoimmune regulator
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALAD aminolevulinate dehydratase
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALDOA aldolase A, fructose-bisphosphate
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALMS1 Alstrom syndrome protein 1
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
ALX1 ALX homeobox 1
ALX3 ALX homeobox 3
ALX4 ALX homeobox 4
ANKRD11 ankyrin repeat domain 11
ANOS1 anosmin 1
ANTXR1 anthrax toxin receptor 1
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APCDD1 adenomatosis polyposis coli down-regulated 1
APOE apolipoprotein E
APTX aprataxin
AR androgen receptor
ARHGAP31 Rho GTPase activating protein 31
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL13B ADP-ribosylation factor-like 13B
ARL6 ADP-ribosylation factor-like 6
ARMC5 armadillo repeat containing 5
ARSB arylsulfatase B
ARX aristaless related homeobox
ASCL1 achaete-scute family bHLH transcription factor 1
ASL argininosuccinate lyase
ASXL1 additional sex combs like transcriptional regulator 1
ATL1 atlastin GTPase 1
ATM ATM serine/threonine kinase
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
AXIN2 axin 2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
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
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
BCL2 B-cell CLL/lymphoma 2
BCL6 B-cell CLL/lymphoma 6
BCOR BCL6 corepressor
BCR breakpoint cluster region
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BDNF brain-derived neurotrophic factor
BIRC3 baculoviral IAP repeat containing 3
BLM Bloom syndrome, RecQ helicase-like
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
BMP1 bone morphogenetic protein 1
BMP15 bone morphogenetic protein 15
BMP4 bone morphogenetic protein 4
BMPER BMP binding endothelial regulator
BMPR1B bone morphogenetic protein receptor, type IB
BRAF B-Raf proto-oncogene, serine/threonine kinase
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BTD biotinidase
BTK Bruton agammaglobulinemia tyrosine kinase
C12ORF57 chromosome 12 open reading frame 57
C15ORF41 chromosome 15 open reading frame 41
C5ORF42 chromosome 5 open reading frame 42
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CAMKMT calmodulin-lysine N-methyltransferase
CANT1 calcium activated nucleotidase 1
CARD14 caspase recruitment domain family, member 14
CARD9 caspase recruitment domain family, member 9
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CBS cystathionine-beta-synthase
CC2D2A coiled-coil and C2 domain containing 2A
CCBE1 collagen and calcium binding EGF domains 1
CCDC22 coiled-coil domain containing 22
CCDC8 coiled-coil domain containing 8
CD151 CD151 molecule (Raph blood group)
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDKL5 cyclin-dependent kinase-like 5
CDON cell adhesion associated, oncogene regulated
CDSN corneodesmosin
CENPJ centromere protein J
CEP152 centrosomal protein 152kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CERS3 ceramide synthase 3
CHD7 chromodomain helicase DNA binding protein 7
CHMP1A charged multivesicular body protein 1A
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CHSY1 chondroitin sulfate synthase 1
CHUK conserved helix-loop-helix ubiquitous kinase
CLCF1 cardiotrophin-like cytokine factor 1
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
CLMP CXADR-like membrane protein
CLP1 cleavage and polyadenylation factor I subunit 1
CNBP CCHC-type zinc finger, nucleic acid binding protein
COG4 component of oligomeric golgi complex 4
COG6 component of oligomeric golgi complex 6
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL14A1 collagen, type XIV, alpha 1
COL17A1 collagen, type XVII, alpha 1
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COL7A1 collagen, type VII, alpha 1
COLEC11 collectin sub-family member 11
COX1
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX2
COX3
COX7B cytochrome c oxidase subunit VIIb
CPT2 carnitine palmitoyltransferase 2
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRLF1 cytokine receptor-like factor 1
CSPP1 centrosome and spindle pole associated protein 1
CTC1 CTS telomere maintenance complex component 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTNS cystinosin, lysosomal cystine transporter
CTSC cathepsin C
CTSK cathepsin K
CUL4B cullin 4B
CUL7 cullin 7
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
DCAF17 DDB1 and CUL4 associated factor 17
DCLRE1C DNA cross-link repair 1C
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DEAF1 DEAF1 transcription factor
DHCR7 7-dehydrocholesterol reductase
DKC1 dyskeratosis congenita 1, dyskerin
DLX3 distal-less homeobox 3
DLX5 distal-less homeobox 5
DMPK dystrophia myotonica-protein kinase
DOCK6 dedicator of cytokinesis 6
DOCK7 dedicator of cytokinesis 7
DOLK dolichol kinase
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DSC2 desmocollin 2
DSC3 desmocollin 3
DSG1 desmoglein 1
DSG4 desmoglein 4
DSP desmoplakin
DST dystonin
DTNBP1 dystrobrevin binding protein 1
DUX4 double homeobox 4
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
EFNB1 ephrin-B1
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
ENG endoglin
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EP300 E1A binding protein p300
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
EPS8L3 EPS8-like 3
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXT1 exostosin glycosyltransferase 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM111A family with sequence similarity 111, member A
FAM111B family with sequence similarity 111, member B
FAM134B family with sequence similarity 134, member B
FAM20A family with sequence similarity 20, member A
FAM20C family with sequence similarity 20, member C
FBN1 fibrillin 1
FBXL4 F-box and leucine-rich repeat protein 4
FBXO31 F-box protein 31
FERMT1 fermitin family member 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF3 fibroblast growth factor 3
FGF5 fibroblast growth factor 5
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FLCN folliculin
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FLT4 fms-related tyrosine kinase 4
FMR1 fragile X mental retardation 1
FNBP4 formin binding protein 4
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXC2 forkhead box C2
FOXE1 forkhead box E1
FOXG1 forkhead box G1
FOXL2 forkhead box L2
FOXN1 forkhead box N1
FOXP1 forkhead box P1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
FRG1 FSHD region gene 1
FTO fat mass and obesity associated
FUCA1 fucosidase, alpha-L- 1, tissue
FZD6 frizzled class receptor 6
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GAN gigaxonin
GATA1 GATA binding protein 1 (globin transcription factor 1)
GDF3 growth differentiation factor 3
GDF5 growth differentiation factor 5
GDF6 growth differentiation factor 6
GDNF glial cell derived neurotrophic factor
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
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GLI3 GLI family zinc finger 3
GMPPA GDP-mannose pyrophosphorylase A
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
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
GPC3 glypican 3
GPC4 glypican 4
GRIP1 glutamate receptor interacting protein 1
GTF2H5 general transcription factor IIH, polypeptide 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUSB glucuronidase, beta
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HCCS holocytochrome c synthase
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HESX1 HESX homeobox 1
HEXB hexosaminidase B (beta polypeptide)
HFE hemochromatosis
HGD homogentisate 1,2-dioxygenase
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HINT1 histidine triad nucleotide binding protein 1
HLA-B major histocompatibility complex, class I, B
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)
HMBS hydroxymethylbilane synthase
HMGA2 high mobility group AT-hook 2
HNF1B HNF1 homeobox B
HOXA13 homeobox A13
HOXC13 homeobox C13
HPD 4-hydroxyphenylpyruvate dioxygenase
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
HSPG2 heparan sulfate proteoglycan 2
HTRA1 HtrA serine peptidase 1
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFT122 intraflagellar transport 122
IFT27 intraflagellar transport 27
IFT43 intraflagellar transport 43
IGHMBP2 immunoglobulin mu binding protein 2
IHH indian hedgehog
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
IL11RA interleukin 11 receptor, alpha
IL12B interleukin 12B
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
IL2RG interleukin 2 receptor, gamma
IL36RN interleukin 36 receptor antagonist
IL7R interleukin 7 receptor
IMPAD1 inositol monophosphatase domain containing 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INSR insulin receptor
IRF6 interferon regulatory factor 6
IRX5 iroquois homeobox 5
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
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
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCNK9 potassium channel, two pore domain subfamily K, member 9
KCTD1 potassium channel tetramerization domain containing 1
KDM5C lysine (K)-specific demethylase 5C
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIF11 kinesin family member 11
KIF1A kinesin family member 1A
KIF1B kinesin family member 1B
KIF1BP KIF1 binding protein
KIF22 kinesin family member 22
KIF7 kinesin family member 7
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLLN killin, p53-regulated DNA replication inhibitor
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
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
KRT5 keratin 5, type II
KRT6A keratin 6A, type II
KRT6B keratin 6B, type II
KRT71 keratin 71, type II
KRT74 keratin 74, 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
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LBR lamin B receptor
LEMD3 LEM domain containing 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LHX1 LIM homeobox 1
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LIPH lipase, member H
LIPN lipase, family member N
LMNA lamin A/C
LMNB1 lamin B1
LMNB2 lamin B2
LMX1B LIM homeobox transcription factor 1, beta
LOR loricrin
LPAR6 lysophosphatidic acid receptor 6
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
LYST lysosomal trafficking regulator
LZTFL1 leucine zipper transcription factor-like 1
MALT1 MALT1 paracaspase
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
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MAPK1 mitogen-activated protein kinase 1
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MBD5 methyl-CpG binding domain protein 5
MBTPS2 membrane-bound transcription factor peptidase, site 2
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEF2C myocyte enhancer factor 2C
MEGF8 multiple EGF-like-domains 8
MEOX1 mesenchyme homeobox 1
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGP matrix Gla protein
MID1 midline 1
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLPH melanophilin
MLX MLX, MAX dimerization protein
MMP1 matrix metallopeptidase 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MOGS mannosyl-oligosaccharide glucosidase
MPL MPL proto-oncogene, thrombopoietin receptor
MPLKIP M-phase specific PLK1 interacting protein
MSX1 msh homeobox 1
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
MYO5A myosin VA (heavy chain 12, myoxin)
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGLU N-acetylglucosaminidase, alpha
NBAS neuroblastoma amplified sequence
NBN nibrin
ND1
NDN necdin, melanoma antigen (MAGE) family member
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
NELFA negative elongation factor complex member A
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
NGF nerve growth factor (beta polypeptide)
NHP2 NHP2 ribonucleoprotein
NIPAL4 NIPA-like domain containing 4
NIPBL Nipped-B homolog (Drosophila)
NLRP1 NLR family, pyrin domain containing 1
NLRP3 NLR family, pyrin domain containing 3
NOG noggin
NOP10 NOP10 ribonucleoprotein
NOTCH1 notch 1
NOTCH2 notch 2
NPHP1 nephronophthisis 1 (juvenile)
NPR2 natriuretic peptide receptor 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NTNG1 netrin G1
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OBSL1 obscurin-like 1
OCA2 oculocutaneous albinism II
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
ORC1 origin recognition complex, subunit 1
OTX2 orthodenticle homeobox 2
PAH phenylalanine hydroxylase
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PAX3 paired box 3
PCNT pericentrin
PDE4D phosphodiesterase 4D, cAMP-specific
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PEPD peptidase D
PEX19 peroxisomal biogenesis factor 19
PEX7 peroxisomal biogenesis factor 7
PHF6 PHD finger protein 6
PHF8 PHD finger protein 8
PHGDH phosphoglycerate dehydrogenase
PHOX2B paired-like homeobox 2b
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
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)
PITX1 paired-like homeodomain 1
PKP1 plakophilin 1
PLCD1 phospholipase C, delta 1
PLEC plectin
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PNPLA1 patatin-like phospholipase domain containing 1
POC1A POC1 centriolar protein A
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POMC proopiomelanocortin
POMP proteasome maturation protein
PORCN porcupine homolog (Drosophila)
PPARG peroxisome proliferator-activated receptor gamma
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PREPL prolyl endopeptidase-like
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRNP prion protein
PROKR2 prokineticin receptor 2
PRRX1 paired related homeobox 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
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
RAB18 RAB18, member RAS oncogene family
RAB27A RAB27A, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAB7A RAB7A, member RAS oncogene family
RAD21 RAD21 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RAI1 retinoic acid induced 1
RBBP8 retinoblastoma binding protein 8
RBM28 RNA binding motif protein 28
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
RIN2 Ras and Rab interactor 2
RIPK4 receptor-interacting serine-threonine kinase 4
RIT1 Ras-like without CAAX 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROGDI rogdi homolog (Drosophila)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1L RPGRIP1-like
RPL21 ribosomal protein L21
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RSPO4 R-spondin 4
RTEL1 regulator of telomere elongation helicase 1
SAT1 spermidine/spermine N1-acetyltransferase 1
SATB2 SATB homeobox 2
SCARF2 scavenger receptor class F, member 2
SCN11A sodium channel, voltage gated, type XI alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SDCCAG8 serologically defined colon cancer antigen 8
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)
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SERPINB7 serpin peptidase inhibitor, clade B (ovalbumin), member 7
SETBP1 SET binding protein 1
SETD5 SET domain containing 5
SF3B4 splicing factor 3b, subunit 4, 49kDa
SGSH N-sulfoglucosamine sulfohydrolase
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SHOX short stature homeobox
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
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC45A2 solute carrier family 45, member 2
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SLITRK1 SLIT and NTRK-like family, member 1
SLURP1 secreted LY6/PLAUR domain containing 1
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
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SMOC1 SPARC related modular calcium binding 1
SNAI2 snail family zinc finger 2
SNRPE small nuclear ribonucleoprotein polypeptide E
SNRPN small nuclear ribonucleoprotein polypeptide N
SNX10 sorting nexin 10
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
SOX18 SRY (sex determining region Y)-box 18
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SPINK5 serine peptidase inhibitor, Kazal type 5
SPRED1 sprouty-related, EVH1 domain containing 1
SPTLC2 serine palmitoyltransferase, long chain base subunit 2
SRCAP Snf2-related CREBBP activator protein
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
SRD5A3 steroid 5 alpha-reductase 3
ST14 suppression of tumorigenicity 14 (colon carcinoma)
STAMBP STAM binding protein
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STK11 serine/threonine kinase 11
STS steroid sulfatase (microsomal), isozyme S
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUCLG1 succinate-CoA ligase, alpha subunit
SULF1 sulfatase 1
SUMF1 sulfatase modifying factor 1
SUOX sulfite oxidase
SURF1 surfeit 1
SZT2 seizure threshold 2 homolog (mouse)
TAT tyrosine aminotransferase
TBC1D20 TBC1 domain family, member 20
TBC1D24 TBC1 domain family, member 24
TBL2 transducin (beta)-like 2
TBX15 T-box 15
TBX2 T-box 2
TBX3 T-box 3
TBX4 T-box 4
TBX6 T-box 6
TCF12 transcription factor 12
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TECPR2 tectonin beta-propeller repeat containing 2
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGM1 transglutaminase 1
THOC6 THO complex 6
THPO thrombopoietin
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMCO1 transmembrane and coiled-coil domains 1
TMEM138 transmembrane protein 138
TMEM173 transmembrane protein 173
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNXB tenascin XB
TP63 tumor protein p63
TRAF3IP2 TRAF3 interacting protein 2
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRAPPC9 trafficking protein particle complex 9
TREX1 three prime repair exonuclease 1
TRIM32 tripartite motif containing 32
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
TTI2 TELO2 interacting protein 2
TUBGCP6 tubulin, gamma complex associated protein 6
TWIST1 twist family bHLH transcription factor 1
TWIST2 twist family bHLH transcription factor 2
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
UBA1 ubiquitin-like modifier activating enzyme 1
UBE2A ubiquitin-conjugating enzyme E2A
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UMPS uridine monophosphate synthetase
UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2
UROC1 urocanate hydratase 1
UROD uroporphyrinogen decarboxylase
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFC vascular endothelial growth factor C
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WDPCP WD repeat containing planar cell polarity effector
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WDR81 WD repeat domain 81
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNK1 WNK lysine deficient protein kinase 1
WNT10A wingless-type MMTV integration site family, member 10A
WNT4 wingless-type MMTV integration site family, member 4
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
WRAP53 WD repeat containing, antisense to TP53
WRN Werner syndrome, RecQ helicase-like
XYLT1 xylosyltransferase I
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
ZBTB20 zinc finger and BTB domain containing 20
ZC4H2 zinc finger, C4H2 domain containing
ZDHHC15 zinc finger, DHHC-type containing 15
ZEB2 zinc finger E-box binding homeobox 2
ZIC2 Zic family member 2
ZMPSTE24 zinc metallopeptidase STE24
ZNF423 zinc finger protein 423
ZNF469 zinc finger protein 469
ZSWIM6 zinc finger, SWIM-type containing 6