Von Hippel-Lindau Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0019562
Similar Terms
Downloads & Tools

Genes

167 genes associated with the disease Von Hippel-Lindau Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ADRB2 adrenoceptor beta 2, surface
ANGPTL4 angiopoietin-like 4
APC adenomatous polyposis coli
APEH acylaminoacyl-peptide hydrolase
APOH apolipoprotein H (beta-2-glycoprotein I)
AR androgen receptor
ATP1B1 ATPase, Na+/K+ transporting, beta 1 polypeptide
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
AURKA aurora kinase A
BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRK1 BRICK1, SCAR/WAVE actin-nucleating complex subunit
CA9 carbonic anhydrase IX
CALCA calcitonin-related polypeptide alpha
CCND1 cyclin D1
CD274 CD274 molecule
CD38 CD38 molecule
CDC73 cell division cycle 73
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDK4 cyclin-dependent kinase 4
CDK6 cyclin-dependent kinase 6
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CGA glycoprotein hormones, alpha polypeptide
CHGA chromogranin A
CIB1 calcium and integrin binding 1 (calmyrin)
CISH cytokine inducible SH2-containing protein
CLU clusterin
COX2
CUL2 cullin 2
CXCL12 chemokine (C-X-C motif) ligand 12
CXCR4 chemokine (C-X-C motif) receptor 4
DAPK1 death-associated protein kinase 1
DDIT4 DNA-damage-inducible transcript 4
DERL3 derlin 3
DIRC2 disrupted in renal carcinoma 2
DNMT1 DNA (cytosine-5-)-methyltransferase 1
EGFR epidermal growth factor receptor
EGLN1 egl-9 family hypoxia-inducible factor 1
EGLN3 egl-9 family hypoxia-inducible factor 3
ELL elongation factor RNA polymerase II
ELOA elongin A
ELOB elongin B
ELOC elongin C
EPAS1 endothelial PAS domain protein 1
EPO erythropoietin
EPOR erythropoietin receptor
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
F10 coagulation factor X
FECH ferrochelatase
FHIT fragile histidine triad
FLCN folliculin
FLT1 fms-related tyrosine kinase 1
FN1 fibronectin 1
GCG glucagon
GNA12 guanine nucleotide binding protein (G protein) alpha 12
GRN granulin
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HILPDA hypoxia inducible lipid droplet-associated
HNF1B HNF1 homeobox B
HYLS1 hydrolethalus syndrome 1
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
JADE1 jade family PHD finger 1
JMJD6 jumonji domain containing 6
KLRD1 killer cell lectin-like receptor subfamily D, member 1
LEF1 lymphoid enhancer-binding factor 1
LHX1 LIM homeobox 1
MAGEA1 melanoma antigen family A1
MAX MYC associated factor X
MAZ MYC-associated zinc finger protein (purine-binding transcription factor)
MEN1 multiple endocrine neoplasia I
MET MET proto-oncogene, receptor tyrosine kinase
MIB1 mindbomb E3 ubiquitin protein ligase 1
MIP major intrinsic protein of lens fiber
MITF microphthalmia-associated transcription factor
MKI67 marker of proliferation Ki-67
MMP1 matrix metallopeptidase 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP3 matrix metallopeptidase 3
MST1 macrophage stimulating 1
MUL1 mitochondrial E3 ubiquitin protein ligase 1
MYBL2 v-myb avian myeloblastosis viral oncogene homolog-like 2
MYC v-myc avian myelocytomatosis viral oncogene homolog
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
NME1 NME/NM23 nucleoside diphosphate kinase 1
NPY neuropeptide Y
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
PARK2 parkin RBR E3 ubiquitin protein ligase
PAX2 paired box 2
PBRM1 polybromo 1
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PIAS4 protein inhibitor of activated STAT, 4
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
PLAU plasminogen activator, urokinase
PNMT phenylethanolamine N-methyltransferase
PROM1 prominin 1
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTHLH parathyroid hormone-like hormone
PYGM phosphorylase, glycogen, muscle
RAB40B RAB40B, member RAS oncogene family
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
RARA retinoic acid receptor, alpha
RARB retinoic acid receptor, beta
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
RB1 retinoblastoma 1
RBMXL1 RNA binding motif protein, X-linked-like 1
RBMY1A1 RNA binding motif protein, Y-linked, family 1, member A1
RBMY1D RNA binding motif protein, Y-linked, family 1, member D
RBX1 ring-box 1, E3 ubiquitin protein ligase
RET ret proto-oncogene
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
RHEB Ras homolog enriched in brain
RWDD3 RWD domain containing 3
SARDH sarcosine dehydrogenase
SDHAF2 succinate dehydrogenase complex assembly factor 2
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
SDS serine dehydratase
SEC13 SEC13 homolog (S. cerevisiae)
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SESN2 sestrin 2
SETD2 SET domain containing 2
SFRP1 secreted frizzled-related protein 1
SIX2 SIX homeobox 2
SLC18A1 solute carrier family 18 (vesicular monoamine transporter), member 1
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2
SLC2A3 solute carrier family 2 (facilitated glucose transporter), member 3
SLC6A2 solute carrier family 6 (neurotransmitter transporter), member 2
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SORD sorbitol dehydrogenase
SPP1 secreted phosphoprotein 1
SST somatostatin
STK11 serine/threonine kinase 11
SYVN1 synovial apoptosis inhibitor 1, synoviolin
TCHP trichoplein, keratin filament binding
TCP1 t-complex 1
TDRD9 tudor domain containing 9
TGFA transforming growth factor, alpha
TGFB1 transforming growth factor, beta 1
TGFBI transforming growth factor, beta-induced, 68kDa
TGM2 transglutaminase 2
TH tyrosine hydroxylase
THRB thyroid hormone receptor, beta
TIMP3 TIMP metallopeptidase inhibitor 3
TMEM127 transmembrane protein 127
TP53 tumor protein p53
TUSC3 tumor suppressor candidate 3
VBP1 von Hippel-Lindau binding protein 1
VEGFA vascular endothelial growth factor A
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VHLL von Hippel-Lindau tumor suppressor-like
WT1 Wilms tumor 1
ZNF645 zinc finger protein 645