abnormality of the upper urinary tract Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the upper urinary tract. (Human Phenotype Ontology, HP_0010935)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010935
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Genes

721 genes associated with the abnormality of the upper urinary tract phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAGAB alpha- and gamma-adaptin binding protein
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ACE angiotensin I converting enzyme
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
ACTN4 actinin, alpha 4
ACVRL1 activin A receptor type II-like 1
ADA adenosine deaminase
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADCK4 aarF domain containing kinase 4
AGGF1 angiogenic factor with G patch and FHA domains 1
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AGXT alanine-glyoxylate aminotransferase
AHI1 Abelson helper integration site 1
AIP aryl hydrocarbon receptor interacting protein
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALDOB aldolase B, fructose-bisphosphate
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG8 ALG8, alpha-1,3-glucosyltransferase
ALMS1 Alstrom syndrome protein 1
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALPL alkaline phosphatase, liver/bone/kidney
AMER1 APC membrane recruitment protein 1
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
ANOS1 anosmin 1
ANTXR1 anthrax toxin receptor 1
AP2S1 adaptor-related protein complex 2, sigma 1 subunit
APC adenomatous polyposis coli
APOA1 apolipoprotein A-I
APOE apolipoprotein E
APOL1 apolipoprotein L, 1
APRT adenine phosphoribosyltransferase
AQP2 aquaporin 2 (collecting duct)
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL6 ADP-ribosylation factor-like 6
ARMC5 armadillo repeat containing 5
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ARX aristaless related homeobox
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASXL1 additional sex combs like transcriptional regulator 1
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
AVP arginine vasopressin
AVPR2 arginine vasopressin receptor 2
AXIN1 axin 1
AXIN2 axin 2
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALTL beta 1,3-galactosyltransferase-like
B3GNT1
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BAX BCL2-associated X protein
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
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BMP4 bone morphogenetic protein 4
BMPER BMP binding endothelial regulator
BMPR1A bone morphogenetic protein receptor, type IA
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)
BSND barttin CLCNK-type chloride channel accessory beta subunit
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C1QA complement component 1, q subcomponent, A chain
C1QB complement component 1, q subcomponent, B chain
C1QC complement component 1, q subcomponent, C chain
C1R complement component 1, r subcomponent
C3 complement component 3
C4A complement component 4A (Rodgers blood group)
CA2 carbonic anhydrase II
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CAMKMT calmodulin-lysine N-methyltransferase
CARD9 caspase recruitment domain family, member 9
CASP10 caspase 10, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CC2D2A coiled-coil and C2 domain containing 2A
CCBE1 collagen and calcium binding EGF domains 1
CCDC22 coiled-coil domain containing 22
CCND2 cyclin D2
CCR6 chemokine (C-C motif) receptor 6
CD151 CD151 molecule (Raph blood group)
CD2AP CD2-associated protein
CD96 CD96 molecule
CDC73 cell division cycle 73
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CECR1 cat eye syndrome chromosome region, candidate 1
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CEP57 centrosomal protein 57kDa
CEP83 centrosomal protein 83kDa
CFH complement factor H
CFHR5 complement factor H-related 5
CFI complement factor I
CHD7 chromodomain helicase DNA binding protein 7
CHN1 chimerin 1
CHRM3 cholinergic receptor, muscarinic 3
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CISD2 CDGSH iron sulfur domain 2
CLCN5 chloride channel, voltage-sensitive 5
CLCNKA chloride channel, voltage-sensitive Ka
CLCNKB chloride channel, voltage-sensitive Kb
CLDN16 claudin 16
CLDN19 claudin 19
CLEC7A C-type lectin domain family 7, member A
CLIP2 CAP-GLY domain containing linker protein 2
COA5 cytochrome c oxidase assembly factor 5
COG6 component of oligomeric golgi complex 6
COL14A1 collagen, type XIV, alpha 1
COL18A1 collagen, type XVIII, alpha 1
COL3A1 collagen, type III, alpha 1
COL4A1 collagen, type IV, alpha 1
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4 collagen, type IV, alpha 4
COL4A5 collagen, type IV, alpha 5
COL7A1 collagen, type VII, alpha 1
COMT catechol-O-methyltransferase
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COQ6 coenzyme Q6 monooxygenase
COX1
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX2
COX20 COX20 cytochrome c oxidase assembly factor
COX3
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CP ceruloplasmin (ferroxidase)
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT2 carnitine palmitoyltransferase 2
CREBBP CREB binding protein
CRTAP cartilage associated protein
CSPP1 centrosome and spindle pole associated protein 1
CTGF connective tissue growth factor
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNS cystinosin, lysosomal cystine transporter
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
DCC DCC netrin 1 receptor
DCHS1 dachsous cadherin-related 1
DCLRE1C DNA cross-link repair 1C
DGKE diacylglycerol kinase, epsilon 64kDa
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DIRC2 disrupted in renal carcinoma 2
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DKC1 dyskeratosis congenita 1, dyskerin
DLL3 delta-like 3 (Drosophila)
DMPK dystrophia myotonica-protein kinase
DNA2 DNA replication helicase/nuclease 2
DNASE1L3 deoxyribonuclease I-like 3
DSE dermatan sulfate epimerase
DUSP6 dual specificity phosphatase 6
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EBP emopamil binding protein (sterol isomerase)
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELN elastin
ENG endoglin
EP300 E1A binding protein p300
EPCAM epithelial cell adhesion molecule
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERBB3 erb-b2 receptor tyrosine kinase 3
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
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
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXT1 exostosin glycosyltransferase 1
EYA1 EYA transcriptional coactivator and phosphatase 1
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAM111A family with sequence similarity 111, member A
FAM20A family with sequence similarity 20, member A
FAM20C family with sequence similarity 20, member C
FAM58A family with sequence similarity 58, member A
FAN1 FANCD2/FANCI-associated nuclease 1
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
FASTKD2 FAST kinase domains 2
FAT4 FAT atypical cadherin 4
FBLN5 fibulin 5
FBN1 fibrillin 1
FBXL4 F-box and leucine-rich repeat protein 4
FERMT1 fermitin family member 1
FEZF1 FEZ family zinc finger 1
FGA fibrinogen alpha chain
FGF10 fibroblast growth factor 10
FGF17 fibroblast growth factor 17
FGF20 fibroblast growth factor 20
FGF23 fibroblast growth factor 23
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
FKRP fukutin related protein
FKTN fukutin
FLCN folliculin
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
FN1 fibronectin 1
FNBP4 formin binding protein 4
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXC2 forkhead box C2
FOXF1 forkhead box F1
FOXI1 forkhead box I1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FUZ fuzzy planar cell polarity protein
G6PC glucose-6-phosphatase, catalytic subunit
G6PC3 glucose 6 phosphatase, catalytic, 3
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GATA3 GATA binding protein 3
GATA6 GATA binding protein 6
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GDF2 growth differentiation factor 2
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GLA galactosidase, alpha
GLI3 GLI family zinc finger 3
GLIS2 GLIS family zinc finger 2
GLIS3 GLIS family zinc finger 3
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GRHPR glyoxylate reductase/hydroxypyruvate reductase
GRIP1 glutamate receptor interacting protein 1
GSN gelsolin
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HBB hemoglobin, beta
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HES7 hes family bHLH transcription factor 7
HESX1 HESX homeobox 1
HGD homogentisate 1,2-dioxygenase
HIC1 hypermethylated in cancer 1
HIRA histone cell cycle regulator
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMBS hydroxymethylbilane synthase
HMGA2 high mobility group AT-hook 2
HMOX1 heme oxygenase 1
HNF1A HNF1 homeobox A
HNF1B HNF1 homeobox B
HOGA1 4-hydroxy-2-oxoglutarate aldolase 1
HOXA13 homeobox A13
HOXD13 homeobox D13
HPRT1 hypoxanthine phosphoribosyltransferase 1
HPS1 Hermansky-Pudlak syndrome 1
HPSE2 heparanase 2 (inactive)
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
HYLS1 hydrolethalus syndrome 1
IFIH1 interferon induced with helicase C domain 1
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IFT43 intraflagellar transport 43
IFT80 intraflagellar transport 80
IGF2 insulin-like growth factor 2
IGHV4-34 immunoglobulin heavy variable 4-34
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IL10 interleukin 10
IL12RB2 interleukin 12 receptor, beta 2
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
IL17RD interleukin 17 receptor D
IL23R interleukin 23 receptor
IL2RG interleukin 2 receptor, gamma
IL7R interleukin 7 receptor
INF2 inverted formin, FH2 and WH2 domain containing
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INSL3 insulin-like 3 (Leydig cell)
INSR insulin receptor
INVS inversin
IQCB1 IQ motif containing B1
IRF5 interferon regulatory factor 5
ISPD isoprenoid synthase domain containing
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
ITGA6 integrin, alpha 6
ITGA8 integrin, alpha 8
ITGB4 integrin, beta 4
JAG1 jagged 1
JAM3 junctional adhesion molecule 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
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KCTD1 potassium channel tetramerization domain containing 1
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIF1B kinesin family member 1B
KISS1R KISS1 receptor
KL klotho
KLLN killin, p53-regulated DNA replication inhibitor
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT17 keratin 17, type I
LAMB2 laminin, beta 2 (laminin S)
LARGE like-glycosyltransferase
LCAT lecithin-cholesterol acyltransferase
LDHA lactate dehydrogenase A
LEMD3 LEM domain containing 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LHX1 LIM homeobox 1
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LIPN lipase, family member N
LMNA lamin A/C
LMNB2 lamin B2
LMX1B LIM homeobox transcription factor 1, beta
LPIN1 lipin 1
LPIN2 lipin 2
LRIG2 leucine-rich repeats and immunoglobulin-like domains 2
LRP2 low density lipoprotein receptor-related protein 2
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
LRRFIP2 leucine rich repeat (in FLII) interacting protein 2
LTBP4 latent transforming growth factor beta binding protein 4
LYZ lysozyme
LZTFL1 leucine zipper transcription factor-like 1
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
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)
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCC mutated in colorectal cancers
MCPH1 microcephalin 1
MEFV Mediterranean fever
MEOX1 mesenchyme homeobox 1
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MET MET proto-oncogene, receptor tyrosine kinase
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MNX1 motor neuron and pancreas homeobox 1
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MPST mercaptopyruvate sulfurtransferase
MRPS22 mitochondrial ribosomal protein S22
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-TK tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MUC1 mucin 1, cell surface associated
MUT methylmalonyl CoA mutase
MYD88 myeloid differentiation primary response 88
MYH9 myosin, heavy chain 9, non-muscle
MYO1E myosin IE
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NBN nibrin
ND1
NEK1 NIMA-related kinase 1
NEK8 NIMA-related kinase 8
NELFA negative elongation factor complex member A
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPAL4 NIPA-like domain containing 4
NIPBL Nipped-B homolog (Drosophila)
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH2 notch 2
NOTCH3 notch 3
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
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
OCLN occludin
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OGG1 8-oxoguanine DNA glycosylase
OTX2 orthodenticle homeobox 2
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PALB2 partner and localizer of BRCA2
PAX1 paired box 1
PAX2 paired box 2
PC pyruvate carboxylase
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PCK2 phosphoenolpyruvate carboxykinase 2 (mitochondrial)
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDGFRL platelet-derived growth factor receptor-like
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PET100 PET100 homolog (S. cerevisiae)
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PEX7 peroxisomal biogenesis factor 7
PGAM2 phosphoglycerate mutase 2 (muscle)
PGK1 phosphoglycerate kinase 1
PGM3 phosphoglucomutase 3
PHEX phosphate regulating endopeptidase homolog, X-linked
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
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)
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PLCD1 phospholipase C, delta 1
PLCE1 phospholipase C, epsilon 1
PLG plasminogen
PLP1 proteolipid protein 1
PMM2 phosphomannomutase 2
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
POR P450 (cytochrome) oxidoreductase
PORCN porcupine homolog (Drosophila)
POU6F2 POU class 6 homeobox 2
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B
PQBP1 polyglutamine binding protein 1
PRCC papillary renal cell carcinoma (translocation-associated)
PRDM16 PR domain containing 16
PREPL prolyl endopeptidase-like
PRKCD protein kinase C, delta
PRKCSH protein kinase C substrate 80K-H
PRODH proline dehydrogenase (oxidase) 1
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRTN3 proteinase 3
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN12 protein tyrosine phosphatase, non-receptor type 12
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPRJ protein tyrosine phosphatase, receptor type, J
PTPRO protein tyrosine phosphatase, receptor type, O
PUF60 poly-U binding splicing factor 60KDa
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PYGM phosphorylase, glycogen, muscle
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
RAD54B RAD54 homolog B (S. cerevisiae)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RAI1 retinoic acid induced 1
RAPSN receptor-associated protein of the synapse
RARB retinoic acid receptor, beta
RBBP8 retinoblastoma binding protein 8
RBM10 RNA binding motif protein 10
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
REN renin
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RIPK4 receptor-interacting serine-threonine kinase 4
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNF139 ring finger protein 139
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RPL11 ribosomal protein L11
RPL26 ribosomal protein L26
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RXFP2 relaxin/insulin-like family peptide receptor 2
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SARS2 seryl-tRNA synthetase 2, mitochondrial
SBDS Shwachman-Bodian-Diamond syndrome
SC5D sterol-C5-desaturase
SCARB2 scavenger receptor class B, member 2
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SDCCAG8 serologically defined colon cancer antigen 8
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
SEC63 SEC63 homolog (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
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SFTPC surfactant protein C
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHH sonic hedgehog
SI sucrase-isomaltase (alpha-glucosidase)
SIX1 SIX homeobox 1
SIX5 SIX homeobox 5
SIX6 SIX homeobox 6
SKI SKI proto-oncogene
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC36A2 solute carrier family 36 (proton/amino acid symporter), member 2
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLC6A20 solute carrier family 6 (proline IMINO transporter), member 20
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SLITRK6 SLIT and NTRK-like family, member 6
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
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
SOX10 SRY (sex determining region Y)-box 10
SOX11 SRY (sex determining region Y)-box 11
SOX17 SRY (sex determining region Y)-box 17
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SOX9 SRY (sex determining region Y)-box 9
SPINK5 serine peptidase inhibitor, Kazal type 5
SPRY4 sprouty homolog 4 (Drosophila)
SRCAP Snf2-related CREBBP activator protein
STAMBP STAM binding protein
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT4 signal transducer and activator of transcription 4
STK11 serine/threonine kinase 11
STRA6 stimulated by retinoic acid 6
STRADA STE20-related kinase adaptor alpha
STS steroid sulfatase (microsomal), isozyme S
SULF1 sulfatase 1
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TACR3 tachykinin receptor 3
TBC1D20 TBC1 domain family, member 20
TBC1D24 TBC1 domain family, member 24
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX15 T-box 15
TBX22 T-box 22
TBX3 T-box 3
TBX6 T-box 6
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFE3 transcription factor binding to IGHM enhancer 3
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGM1 transglutaminase 1
THOC6 THO complex 6
TLR4 toll-like receptor 4
TMCO1 transmembrane and coiled-coil domains 1
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNXB tenascin XB
TP53 tumor protein p53
TP63 tumor protein p63
TRAF3IP2 TRAF3 interacting protein 2
TREX1 three prime repair exonuclease 1
TRIM32 tripartite motif containing 32
TRIM37 tripartite motif containing 37
TRNE
TRPC6 transient receptor potential cation channel, subfamily C, member 6
TRPS1 trichorhinophalangeal syndrome I
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TTC21B tetratricopeptide repeat domain 21B
TTC37 tetratricopeptide repeat domain 37
TTC8 tetratricopeptide repeat domain 8
TWIST2 twist family bHLH transcription factor 2
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
UMOD uromodulin
UMPS uridine monophosphate synthetase
UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2
VANGL1 VANGL planar cell polarity protein 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
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
WFS1 Wolfram syndrome 1 (wolframin)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WIPF1 WAS/WASL interacting protein family, member 1
WNT3 wingless-type MMTV integration site family, member 3
WNT4 wingless-type MMTV integration site family, member 4
WNT5A wingless-type MMTV integration site family, member 5A
WRN Werner syndrome, RecQ helicase-like
WT1 Wilms tumor 1
XDH xanthine dehydrogenase
XPNPEP3 X-prolyl aminopeptidase 3, mitochondrial
YAP1 Yes-associated protein 1
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZIC3 Zic family member 3
ZMPSTE24 zinc metallopeptidase STE24
ZNF423 zinc finger protein 423