Polycistic Kidney Disease Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0887850
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Genes

268 genes associated with the disease Polycistic Kidney Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ACE angiotensin I converting enzyme
ACP5 acid phosphatase 5, tartrate resistant
ACTB actin, beta
ADAM10 ADAM metallopeptidase domain 10
ADCY6 adenylate cyclase 6
ADD1 adducin 1 (alpha)
AGER advanced glycosylation end product-specific receptor
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALB albumin
ALG9 ALG9, alpha-1,2-mannosyltransferase
ANGPT2 angiopoietin 2
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
ANO1 anoctamin 1, calcium activated chloride channel
APOE apolipoprotein E
APRT adenine phosphoribosyltransferase
AQP11 aquaporin 11
AQP2 aquaporin 2 (collecting duct)
AQP3 aquaporin 3 (Gill blood group)
AREG amphiregulin
ARG1 arginase 1
ASS1 argininosuccinate synthase 1
ATF2 activating transcription factor 2
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATR ATR serine/threonine kinase
AVP arginine vasopressin
AVPR2 arginine vasopressin receptor 2
B2M beta-2-microglobulin
BICC1 BicC family RNA binding protein 1
BRD2 bromodomain containing 2
BRD4 bromodomain containing 4
CALD1 caldesmon 1
CBX4 chromobox homolog 4
CCL2 chemokine (C-C motif) ligand 2
CCN2 cellular communication network factor 2
CD200 CD200 molecule
CD274 CD274 molecule
CD59 CD59 molecule, complement regulatory protein
CDH8 cadherin 8, type 2
CDHR5 cadherin-related family member 5
CDK1 cyclin-dependent kinase 1
CDK2 cyclin-dependent kinase 2
CDK4 cyclin-dependent kinase 4
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CFB complement factor B
CFH complement factor H
CFHR1 complement factor H-related 1
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CLDN1 claudin 1
CLDN7 claudin 7
COL14A1 collagen, type XIV, alpha 1
COQ8B coenzyme Q8B
COX2
CREB1 cAMP responsive element binding protein 1
CSF1 colony stimulating factor 1 (macrophage)
CST3 cystatin C
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTRL chymotrypsin-like
CTSL cathepsin L
CUX1 cut-like homeobox 1
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL12 chemokine (C-X-C motif) ligand 12
CXCL9 chemokine (C-X-C motif) ligand 9
CXCR2 chemokine (C-X-C motif) receptor 2
DCN decorin
DDR1 discoidin domain receptor tyrosine kinase 1
DKK3 dickkopf WNT signaling pathway inhibitor 3
DNAJB11 DnaJ (Hsp40) homolog, subfamily B, member 11
DNER delta/notch-like EGF repeat containing
DUOX1 dual oxidase 1
DUOX2 dual oxidase 2
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
ECE1 endothelin converting enzyme 1
EDN1 endothelin 1
EDNRA endothelin receptor type A
EDNRB endothelin receptor type B
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EPHB2 EPH receptor B2
EPO erythropoietin
ERAL1 Era-like 12S mitochondrial rRNA chaperone 1
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB4 erb-b2 receptor tyrosine kinase 4
ESR1 estrogen receptor 1
ETFA electron-transfer-flavoprotein, alpha polypeptide
EXO1 exonuclease 1
EXOC4 exocyst complex component 4
EXOC5 exocyst complex component 5
FABP1 fatty acid binding protein 1, liver
FBN1 fibrillin 1
FGF23 fibroblast growth factor 23
FGF7 fibroblast growth factor 7
FGFR2 fibroblast growth factor receptor 2
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSB FBJ murine osteosarcoma viral oncogene homolog B
FSD1 fibronectin type III and SPRY domain containing 1
FSD1L fibronectin type III and SPRY domain containing 1-like
FSHR follicle stimulating hormone receptor
GANAB glucosidase, alpha; neutral AB
GH1 growth hormone 1
GLIS2 GLIS family zinc finger 2
GLS glutaminase
GNA12 guanine nucleotide binding protein (G protein) alpha 12
GOT2 glutamic-oxaloacetic transaminase 2, mitochondrial
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
HAGH hydroxyacylglutathione hydrolase
HAVCR1 hepatitis A virus cellular receptor 1
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HDAC5 histone deacetylase 5
HDAC6 histone deacetylase 6
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HLA-A major histocompatibility complex, class I, A
HMOX1 heme oxygenase 1
HNF1B HNF1 homeobox B
HP haptoglobin
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
ID2 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein
IFT88 intraflagellar transport 88
IGF1 insulin-like growth factor 1 (somatomedin C)
IL13 interleukin 13
IL18 interleukin 18
IL1B interleukin 1, beta
IL6 interleukin 6
ILK integrin-linked kinase
ITGA6 integrin, alpha 6
ITGA8 integrin, alpha 8
ITGB4 integrin, beta 4
JADE1 jade family PHD finger 1
JAK2 Janus kinase 2
JUN jun proto-oncogene
JUNB jun B proto-oncogene
JUND jun D proto-oncogene
KIF3A kinesin family member 3A
KL klotho
KLF12 Kruppel-like factor 12
KRT17 keratin 17, type I
KRT6B keratin 6B, type II
LAMA5 laminin, alpha 5
LAMC2 laminin, gamma 2
LCN2 lipocalin 2
LGALS3 lectin, galactoside-binding, soluble, 3
LIN7C lin-7 homolog C (C. elegans)
LOX lysyl oxidase
LRP2 low density lipoprotein receptor-related protein 2
MAPK1 mitogen-activated protein kinase 1
MAPK15 mitogen-activated protein kinase 15
MET MET proto-oncogene, receptor tyrosine kinase
MFAP1 microfibrillar-associated protein 1
MFN2 mitofusin 2
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MMP1 matrix metallopeptidase 1
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MUC1 mucin 1, cell surface associated
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYRF myelin regulatory factor
NCOR2 nuclear receptor corepressor 2
NFE2L2 nuclear factor, erythroid 2-like 2
NOS3 nitric oxide synthase 3 (endothelial cell)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
NTN3 netrin 3
OCLN occludin
OFD1 oral-facial-digital syndrome 1
OXSR1 oxidative stress responsive 1
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
PAK4 p21 protein (Cdc42/Rac)-activated kinase 4
PATJ PATJ crumbs cell polarity complex component
PAX2 paired box 2
PCNA proliferating cell nuclear antigen
PCSK2 proprotein convertase subtilisin/kexin type 2
PDE1A phosphodiesterase 1A, calmodulin-dependent
PDE1B phosphodiesterase 1B, calmodulin-dependent
PGD phosphogluconate dehydrogenase
PGP phosphoglycolate phosphatase
PIGR polymeric immunoglobulin receptor
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKD2L1 polycystic kidney disease 2-like 1
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PLG plasminogen
PODXL podocalyxin-like
POSTN periostin, osteoblast specific factor
PPARA peroxisome proliferator-activated receptor alpha
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPP1R2P9 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 9
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRKCA protein kinase C, alpha
PRKCB protein kinase C, beta
PRKCSH protein kinase C substrate 80K-H
PRKD1 protein kinase D1
PRKX protein kinase, X-linked
PROM1 prominin 1
PRRT2 proline-rich transmembrane protein 2
PTCH1 patched 1
PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTH parathyroid hormone
PTPRF protein tyrosine phosphatase, receptor type, F
RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5
REN renin
RGS7 regulator of G-protein signaling 7
RPL3L ribosomal protein L3-like
RUNX1 runt-related transcription factor 1
SCRIB scribbled planar cell polarity protein
SEC63 SEC63 homolog (S. cerevisiae)
SEMA7A semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SFRP4 secreted frizzled-related protein 4
SKI SKI proto-oncogene
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC16A9 solute carrier family 16, member 9
SLC17A1 solute carrier family 17 (organic anion transporter), member 1
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9
SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
SLC9B2 solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2
SMAD2 SMAD family member 2
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SMYD2 SET and MYND domain containing 2
SOAT1 sterol O-acyltransferase 1
SOCS3 suppressor of cytokine signaling 3
SOST sclerostin
SPAG11A sperm associated antigen 11A
SPAG11B sperm associated antigen 11B
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SST somatostatin
SSTR5 somatostatin receptor 5
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced
STATH statherin
STIM1 stromal interaction molecule 1
TAZ tafazzin
TBPL1 TBP-like 1
TGFA transforming growth factor, alpha
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TIMP1 TIMP metallopeptidase inhibitor 1
TNC tenascin C
TNF tumor necrosis factor
TP53 tumor protein p53
TRPC6 transient receptor potential cation channel, subfamily C, member 6
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TYRP1 tyrosinase-related protein 1
UBD ubiquitin D
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
UMOD uromodulin
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VPS51 vacuolar protein sorting 51 homolog (S. cerevisiae)
WASF1 WAS protein family, member 1
WWTR1 WW domain containing transcription regulator 1
YAP1 Yes-associated protein 1