abnormality of the urinary system physiology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011277
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Genes

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

Symbol Name
AASS aminoadipate-semialdehyde synthase
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ACAD9 acyl-CoA dehydrogenase family, member 9
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACADVL acyl-CoA dehydrogenase, very long chain
ACE angiotensin I converting enzyme
ACSF3 acyl-CoA synthetase family member 3
ACSL4 acyl-CoA synthetase long-chain family member 4
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
AGK acylglycerol kinase
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
ALDH4A1 aldehyde dehydrogenase 4 family, member A1
ALDOB aldolase B, fructose-bisphosphate
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALMS1 Alstrom syndrome protein 1
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALPL alkaline phosphatase, liver/bone/kidney
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
AMN amnion associated transmembrane protein
AMT aminomethyltransferase
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
AP2S1 adaptor-related protein complex 2, sigma 1 subunit
APOA1 apolipoprotein A-I
APOE apolipoprotein E
APRT adenine phosphoribosyltransferase
AQP2 aquaporin 2 (collecting duct)
ARG1 arginase 1
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
ARL6 ADP-ribosylation factor-like 6
ARSB arylsulfatase B
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASL argininosuccinate lyase
ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
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
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
ATRX alpha thalassemia/mental retardation syndrome X-linked
AVP arginine vasopressin
AVPR2 arginine vasopressin receptor 2
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
BCR breakpoint cluster region
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BMPR1A bone morphogenetic protein receptor, type IA
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
BTD biotinidase
BTK Bruton agammaglobulinemia tyrosine kinase
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
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
CBS cystathionine-beta-synthase
CC2D2A coiled-coil and C2 domain containing 2A
CCR6 chemokine (C-C motif) receptor 6
CD151 CD151 molecule (Raph blood group)
CD2AP CD2-associated protein
CD320 CD320 molecule
CD59 CD59 molecule, complement regulatory protein
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CECR1 cat eye syndrome chromosome region, candidate 1
CEP290 centrosomal protein 290kDa
CEP83 centrosomal protein 83kDa
CFH complement factor H
CFHR5 complement factor H-related 5
CFI complement factor I
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD7 chromodomain helicase DNA binding protein 7
CHRM3 cholinergic receptor, muscarinic 3
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CIITA class II, major histocompatibility complex, transactivator
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
COL1A1 collagen, type I, 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
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL7A1 collagen, type VII, alpha 1
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)
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT2 carnitine palmitoyltransferase 2
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CTGF connective tissue growth factor
CTH cystathionine gamma-lyase
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNS cystinosin, lysosomal cystine transporter
CUBN cubilin (intrinsic factor-cobalamin receptor)
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
D2HGDH D-2-hydroxyglutarate dehydrogenase
DCLRE1C DNA cross-link repair 1C
DGKE diacylglycerol kinase, epsilon 64kDa
DGUOK deoxyguanosine kinase
DHTKD1 dehydrogenase E1 and transketolase domain containing 1
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DLD dihydrolipoamide dehydrogenase
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DNASE1L3 deoxyribonuclease I-like 3
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELN elastin
ENG endoglin
EPCAM epithelial cell adhesion molecule
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
ETHE1 ethylmalonic encephalopathy 1
EXT1 exostosin glycosyltransferase 1
EYA1 EYA transcriptional coactivator and phosphatase 1
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAM20A family with sequence similarity 20, member A
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
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FASTKD2 FAST kinase domains 2
FBLN5 fibulin 5
FBXL4 F-box and leucine-rich repeat protein 4
FGA fibrinogen alpha chain
FGF10 fibroblast growth factor 10
FGF23 fibroblast growth factor 23
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
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FMO3 flavin containing monooxygenase 3
FMR1 fragile X mental retardation 1
FN1 fibronectin 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXC2 forkhead box C2
FOXI1 forkhead box I1
FTCD formimidoyltransferase cyclodeaminase
FUCA1 fucosidase, alpha-L- 1, tissue
FUZ fuzzy planar cell polarity protein
FXYD2 FXYD domain containing ion transport regulator 2
G6PC glucose-6-phosphatase, catalytic subunit
GALE UDP-galactose-4-epimerase
GALNS galactosamine (N-acetyl)-6-sulfatase
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GALT galactose-1-phosphate uridylyltransferase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA3 GATA binding protein 3
GATA6 GATA binding protein 6
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCDH glutaryl-CoA dehydrogenase
GCSH glycine cleavage system protein H (aminomethyl carrier)
GDF2 growth differentiation factor 2
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GLDC glycine dehydrogenase (decarboxylating)
GLIS2 GLIS family zinc finger 2
GLYCTK glycerate kinase
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAS GNAS complex locus
GNAS-AS1 GNAS antisense RNA 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNS glucosamine (N-acetyl)-6-sulfatase
GRHPR glyoxylate reductase/hydroxypyruvate reductase
GSN gelsolin
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
GUSB glucuronidase, beta
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HADH hydroxyacyl-CoA dehydrogenase
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HBB hemoglobin, beta
HCFC1 host cell factor C1
HDAC8 histone deacetylase 8
HESX1 HESX homeobox 1
HGD homogentisate 1,2-dioxygenase
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HIBCH 3-hydroxyisobutyryl-CoA hydrolase
HIC1 hypermethylated in cancer 1
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
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HMBS hydroxymethylbilane synthase
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase
HMOX1 heme oxygenase 1
HNF1B HNF1 homeobox B
HOGA1 4-hydroxy-2-oxoglutarate aldolase 1
HOXA13 homeobox A13
HPRT1 hypoxanthine phosphoribosyltransferase 1
HPS1 Hermansky-Pudlak syndrome 1
HPSE2 heparanase 2 (inactive)
HRAS Harvey rat sarcoma viral oncogene homolog
HYAL1 hyaluronoglucosaminidase 1
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
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
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
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
INPPL1 inositol polyphosphate phosphatase-like 1
INSR insulin receptor
INVS inversin
IQCB1 IQ motif containing B1
IRF5 interferon regulatory factor 5
ISCU iron-sulfur cluster assembly enzyme
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
ITGA8 integrin, alpha 8
IVD isovaleryl-CoA dehydrogenase
JAG1 jagged 1
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
KCTD1 potassium channel tetramerization domain containing 1
KIF1B kinesin family member 1B
KL klotho
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMB2 laminin, beta 2 (laminin S)
LCAT lecithin-cholesterol acyltransferase
LDHA lactate dehydrogenase A
LHX1 LIM homeobox 1
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LIPN lipase, family member N
LMBRD1 LMBR1 domain containing 1
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
LRRFIP2 leucine rich repeat (in FLII) interacting protein 2
LYZ lysozyme
LZTFL1 leucine zipper transcription factor-like 1
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAPK1 mitogen-activated protein kinase 1
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MCEE methylmalonyl CoA epimerase
MEFV Mediterranean fever
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MNX1 motor neuron and pancreas homeobox 1
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MPC1 mitochondrial pyruvate carrier 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-TK tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
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
NAGA N-acetylgalactosaminidase, alpha-
NAGLU N-acetylglucosaminidase, alpha
NBN nibrin
ND1
NEK8 NIMA-related kinase 8
NEU1 sialidase 1 (lysosomal sialidase)
NIPAL4 NIPA-like domain containing 4
NIPBL Nipped-B homolog (Drosophila)
NLRP3 NLR family, pyrin domain containing 3
NME1 NME/NM23 nucleoside diphosphate kinase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH2 notch 2
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)
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NT5C3A 5'-nucleotidase, cytosolic IIIA
OCLN occludin
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OTC ornithine carbamoyltransferase
OTX2 orthodenticle homeobox 2
OXCT1 3-oxoacid CoA transferase 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAH phenylalanine hydroxylase
PALB2 partner and localizer of BRCA2
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PAX2 paired box 2
PC pyruvate carboxylase
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PET100 PET100 homolog (S. cerevisiae)
PEX1 peroxisomal biogenesis factor 1
PEX19 peroxisomal biogenesis factor 19
PEX5 peroxisomal biogenesis factor 5
PEX7 peroxisomal biogenesis factor 7
PFKM phosphofructokinase, muscle
PGAM2 phosphoglycerate mutase 2 (muscle)
PGK1 phosphoglycerate kinase 1
PGM3 phosphoglucomutase 3
PHEX phosphate regulating endopeptidase homolog, X-linked
PHKA1 phosphorylase kinase, alpha 1 (muscle)
PHYH phytanoyl-CoA 2-hydroxylase
PIEZO1 piezo-type mechanosensitive ion channel component 1
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PLCE1 phospholipase C, epsilon 1
PLG plasminogen
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLP1 proteolipid protein 1
PMM2 phosphomannomutase 2
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNP purine nucleoside phosphorylase
POLG polymerase (DNA directed), gamma
POU6F2 POU class 6 homeobox 2
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B
PREPL prolyl endopeptidase-like
PRKCD protein kinase C, delta
PRODH proline dehydrogenase (oxidase) 1
PROKR2 prokineticin receptor 2
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRTN3 proteinase 3
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PTH1R parathyroid hormone 1 receptor
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPN3 protein tyrosine phosphatase, non-receptor type 3
PTPRO protein tyrosine phosphatase, receptor type, O
PYGM phosphorylase, glycogen, muscle
RAB40AL RAB40A, member RAS oncogene family-like
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
REN renin
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RFX5 regulatory factor X, 5 (influences HLA class II expression)
RFXANK regulatory factor X-associated ankyrin-containing protein
RFXAP regulatory factor X-associated protein
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RPGRIP1L RPGRIP1-like
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RYR1 ryanodine receptor 1 (skeletal)
SALL1 spalt-like transcription factor 1
SARS2 seryl-tRNA synthetase 2, mitochondrial
SCARB2 scavenger receptor class B, member 2
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SDCCAG8 serologically defined colon cancer antigen 8
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SERAC1 serine active site containing 1
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SGSH N-sulfoglucosamine sulfohydrolase
SIX1 SIX homeobox 1
SIX5 SIX homeobox 5
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC16A12 solute carrier family 16, member 12
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9
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
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1
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
SLITRK6 SLIT and NTRK-like family, member 6
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SNAP29 synaptosomal-associated protein, 29kDa
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SPINK5 serine peptidase inhibitor, Kazal type 5
SQSTM1 sequestosome 1
STAR steroidogenic acute regulatory protein
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT4 signal transducer and activator of transcription 4
STS steroid sulfatase (microsomal), isozyme S
STX16 syntaxin 16
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUCLG1 succinate-CoA ligase, alpha subunit
SUMF1 sulfatase modifying factor 1
SUOX sulfite oxidase
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TAT tyrosine aminotransferase
TBL2 transducin (beta)-like 2
TCN2 transcobalamin II
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGM1 transglutaminase 1
THOC6 THO complex 6
TK2 thymidine kinase 2, mitochondrial
TLR4 toll-like receptor 4
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNXB tenascin XB
TP63 tumor protein p63
TRAF3IP2 TRAF3 interacting protein 2
TREX1 three prime repair exonuclease 1
TRIM32 tripartite motif containing 32
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
TTC8 tetratricopeptide repeat domain 8
UMOD uromodulin
UMPS uridine monophosphate synthetase
UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2
UROS uroporphyrinogen III synthase
VANGL1 VANGL planar cell polarity protein 1
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)
WAS Wiskott-Aldrich syndrome
WDPCP WD repeat containing planar cell polarity effector
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR60 WD repeat domain 60
WFS1 Wolfram syndrome 1 (wolframin)
WIPF1 WAS/WASL interacting protein family, member 1
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
ZNF423 zinc finger protein 423