Pheochromocytoma Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines. (Human Phenotype Ontology, HP_0002666)
External Link https://www.disgenet.org/browser/0/1/0/C1257877
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Genes

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

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ACACA acetyl-CoA carboxylase alpha
ACE angiotensin I converting enzyme
ACKR3 atypical chemokine receptor 3
ACO1 aconitase 1, soluble
ACTB actin, beta
ACVR1 activin A receptor, type I
ACVR1B activin A receptor, type IB
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
ADCYAP1R1 adenylate cyclase activating polypeptide 1 (pituitary) receptor type I
ADIPOQ adiponectin, C1Q and collagen domain containing
ADIPOR1 adiponectin receptor 1
ADIPOR2 adiponectin receptor 2
ADM adrenomedullin
AGRP agouti related neuropeptide
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AGTR2 angiotensin II receptor, type 2
AIP aryl hydrocarbon receptor interacting protein
AKT1 v-akt murine thymoma viral oncogene homolog 1
ANGPTL4 angiopoietin-like 4
APC adenomatous polyposis coli
APP amyloid beta (A4) precursor protein
APRT adenine phosphoribosyltransferase
ARHGEF1 Rho guanine nucleotide exchange factor (GEF) 1
ARTN artemin
ASCL1 achaete-scute family bHLH transcription factor 1
ATRX alpha thalassemia/mental retardation syndrome X-linked
BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
BCL2 B-cell CLL/lymphoma 2
BDNF brain-derived neurotrophic factor
BIRC5 baculoviral IAP repeat containing 5
BMP7 bone morphogenetic protein 7
BMS1 BMS1 ribosome biogenesis factor
BRAF B-Raf proto-oncogene, serine/threonine kinase
CA9 carbonic anhydrase IX
CALCA calcitonin-related polypeptide alpha
CALCRL calcitonin receptor-like
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CAT catalase
CBS cystathionine-beta-synthase
CBX4 chromobox homolog 4
CCL7 chemokine (C-C motif) ligand 7
CCND1 cyclin D1
CD274 CD274 molecule
CDC42 cell division cycle 42
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CGA glycoprotein hormones, alpha polypeptide
CGB chorionic gonadotropin, beta polypeptide
CGB5 chorionic gonadotropin, beta polypeptide 5
CGB8 chorionic gonadotropin, beta polypeptide 8
CHGA chromogranin A
CHGB chromogranin B
CIB1 calcium and integrin binding 1 (calmyrin)
CLDN10 claudin 10
CNTN4 contactin 4
COL11A2 collagen, type XI, alpha 2
COMT catechol-O-methyltransferase
CPE carboxypeptidase E
CRH corticotropin releasing hormone
CRP C-reactive protein, pentraxin-related
CRYGD crystallin, gamma D
CS citrate synthase
CTNNBL1 catenin, beta like 1
CUL2 cullin 2
CUL4A cullin 4A
CX3CL1 chemokine (C-X3-C motif) ligand 1
CXCL12 chemokine (C-X-C motif) ligand 12
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DCTN6 dynactin 6
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DGCR2 DiGeorge syndrome critical region gene 2
DHRS11 dehydrogenase/reductase (SDR family) member 11
DIRAS3 DIRAS family, GTP-binding RAS-like 3
DLST dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)
DMBT1 deleted in malignant brain tumors 1
DNM1L dynamin 1-like
DRD2 dopamine receptor D2
EDN1 endothelin 1
EDNRA endothelin receptor type A
EDNRB endothelin receptor type B
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EGLN1 egl-9 family hypoxia-inducible factor 1
EGLN2 egl-9 family hypoxia-inducible factor 2
EGLN3 egl-9 family hypoxia-inducible factor 3
ELOA elongin A
ELOB elongin B
EMP3 epithelial membrane protein 3
ENPEP glutamyl aminopeptidase (aminopeptidase A)
EPAS1 endothelial PAS domain protein 1
EPHA3 EPH receptor A3
EPO erythropoietin
EPOR erythropoietin receptor
ERBB2 erb-b2 receptor tyrosine kinase 2
ERV3-1 endogenous retrovirus group 3, member 1
ESRRA estrogen-related receptor alpha
ETS1 v-ets avian erythroblastosis virus E26 oncogene homolog 1
FARP1 FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)
FGF21 fibroblast growth factor 21
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FLT1 fms-related tyrosine kinase 1
FN1 fibronectin 1
FNDC3A fibronectin type III domain containing 3A
FOXM1 forkhead box M1
FSIP1 fibrous sheath interacting protein 1
G6PD glucose-6-phosphate dehydrogenase
GAL galanin/GMAP prepropeptide
GALR2 galanin receptor 2
GAP43 growth associated protein 43
GATA3 GATA binding protein 3
GATA4 GATA binding protein 4
GCG glucagon
GCGR glucagon receptor
GDE1 glycerophosphodiester phosphodiesterase 1
GDNF glial cell derived neurotrophic factor
GHRHR growth hormone releasing hormone receptor
GHRL ghrelin/obestatin prepropeptide
GIPC1 GIPC PDZ domain containing family, member 1
GLP1R glucagon-like peptide 1 receptor
GNAS GNAS complex locus
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GPR143 G protein-coupled receptor 143
GPR68 G protein-coupled receptor 68
GSK3B glycogen synthase kinase 3 beta
GUSB glucuronidase, beta
HCRTR1 hypocretin (orexin) receptor 1
HDAC6 histone deacetylase 6
HIC1 hypermethylated in cancer 1
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HNF1B HNF1 homeobox B
HPR haptoglobin-related protein
HPSE heparanase
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B13 hydroxysteroid (17-beta) dehydrogenase 13
HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
HSPA4 heat shock 70kDa protein 4
HTR4 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled
HYLS1 hydrolethalus syndrome 1
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IFI27 interferon, alpha-inducible protein 27
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IGFBP1 insulin-like growth factor binding protein 1
IGFBP2 insulin-like growth factor binding protein 2, 36kDa
IL1A interleukin 1, alpha
IL4R interleukin 4 receptor
IL5 interleukin 5
IL6 interleukin 6
INSR insulin receptor
IRF3 interferon regulatory factor 3
ISL1 ISL LIM homeobox 1
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5
KDR kinase insert domain receptor
KIF1B kinesin family member 1B
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KMT2D lysine (K)-specific methyltransferase 2D
KRT17 keratin 17, type I
KRT20 keratin 20, type I
KRT6B keratin 6B, type II
L1CAM L1 cell adhesion molecule
LEP leptin
LEPR leptin receptor
LGALS3 lectin, galactoside-binding, soluble, 3
MAML3 mastermind-like 3 (Drosophila)
MAOA monoamine oxidase A
MAOB monoamine oxidase B
MAPK14 mitogen-activated protein kinase 14
MAPK3 mitogen-activated protein kinase 3
MAPK8 mitogen-activated protein kinase 8
MAX MYC associated factor X
MDH2 malate dehydrogenase 2, NAD (mitochondrial)
MEN1 multiple endocrine neoplasia I
MFAP1 microfibrillar-associated protein 1
MGMT O-6-methylguanine-DNA methyltransferase
MIB1 mindbomb E3 ubiquitin protein ligase 1
MITF microphthalmia-associated transcription factor
MKI67 marker of proliferation Ki-67
MLH1 mutL homolog 1
MMP9 matrix metallopeptidase 9
MOS v-mos Moloney murine sarcoma viral oncogene homolog
MPZL2 myelin protein zero-like 2
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MSH2 mutS homolog 2
MT1A metallothionein 1A
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYCL v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog
MZB1 marginal zone B and B1 cell-specific protein
NCOA1 nuclear receptor coactivator 1
NF1 neurofibromin 1
NFE2L2 nuclear factor, erythroid 2-like 2
NGF nerve growth factor (beta polypeptide)
NOTCH1 notch 1
NPY neuropeptide Y
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NRTN neurturin
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NTS neurotensin
PARP1 poly (ADP-ribose) polymerase 1
PCDHGC3 protocadherin gamma subfamily C, 3
PCSK2 proprotein convertase subtilisin/kexin type 2
PDC phosducin
PDE11A phosphodiesterase 11A
PDE5A phosphodiesterase 5A, cGMP-specific
PDE8B phosphodiesterase 8B
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDK1 pyruvate dehydrogenase kinase, isozyme 1
PDYN prodynorphin
PENK proenkephalin
PHOX2B paired-like homeobox 2b
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
PKD2 polycystic kidney disease 2 (autosomal dominant)
PLAGL1 pleiomorphic adenoma gene-like 1
PMCH pro-melanin-concentrating hormone
PMPCA peptidase (mitochondrial processing) alpha
PNMT phenylethanolamine N-methyltransferase
POMC proopiomelanocortin
POTEF POTE ankyrin domain family, member F
POU4F1 POU class 4 homeobox 1
PPARG peroxisome proliferator-activated receptor gamma
PRDM2 PR domain containing 2, with ZNF domain
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PSMD9 proteasome (prosome, macropain) 26S subunit, non-ATPase, 9
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTH parathyroid hormone
PTPRF protein tyrosine phosphatase, receptor type, F
PTPRU protein tyrosine phosphatase, receptor type, U
QPCT glutaminyl-peptide cyclotransferase
RAB6A RAB6A, member RAS oncogene family
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RAMP2 receptor (G protein-coupled) activity modifying protein 2
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
RASSF5 Ras association (RalGDS/AF-6) domain family member 5
RBP3 retinol binding protein 3, interstitial
REG1A regenerating islet-derived 1 alpha
REN renin
RET ret proto-oncogene
RETN resistin
RGS6 regulator of G-protein signaling 6
RNF41 ring finger protein 41, E3 ubiquitin protein ligase
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1
RPS6KB2 ribosomal protein S6 kinase, 70kDa, polypeptide 2
RWDD3 RWD domain containing 3
S100A12 S100 calcium binding protein A12
SARDH sarcosine dehydrogenase
SCARB1 scavenger receptor class B, member 1
SCG2 secretogranin II
SCTR secretin receptor
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF2 succinate dehydrogenase complex assembly factor 2
SDHAF3 succinate dehydrogenase complex assembly factor 3
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
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETD2 SET domain containing 2
SIM2 single-minded family bHLH transcription factor 2
SLC17A6 solute carrier family 17 (vesicular glutamate transporter), member 6
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2
SLC25A11 solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11
SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC6A2 solute carrier family 6 (neurotransmitter transporter), member 2
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SNAI1 snail family zinc finger 1
SNAP25 synaptosomal-associated protein, 25kDa
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SORD sorbitol dehydrogenase
SRC SRC proto-oncogene, non-receptor tyrosine kinase
SSSCA1 Sjogren syndrome/scleroderma autoantigen 1
SST somatostatin
SSTR1 somatostatin receptor 1
SSTR2 somatostatin receptor 2
SSTR5 somatostatin receptor 5
STAR steroidogenic acute regulatory protein
STMN1 stathmin 1
SYP synaptophysin
SYT1 synaptotagmin I
TDRD9 tudor domain containing 9
TERT telomerase reverse transcriptase
TET1 tet methylcytosine dioxygenase 1
TGFA transforming growth factor, alpha
TGM2 transglutaminase 2
TH tyrosine hydroxylase
TICAM2 toll-like receptor adaptor molecule 2
TIMP2 TIMP metallopeptidase inhibitor 2
TIMP3 TIMP metallopeptidase inhibitor 3
TMED7 transmembrane emp24 protein transport domain containing 7
TMED7-TICAM2 TMED7-TICAM2 readthrough
TMEM127 transmembrane protein 127
TNF tumor necrosis factor
TP53 tumor protein p53
TRPC6 transient receptor potential cation channel, subfamily C, member 6
TTR transthyretin
TWIST1 twist family bHLH transcription factor 1
TXN thioredoxin
UCN3 urocortin 3
UCP1 uncoupling protein 1 (mitochondrial, proton carrier)
UTS2 urotensin 2
UTS2R urotensin 2 receptor
VBP1 von Hippel-Lindau binding protein 1
VEGFA vascular endothelial growth factor A
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VIP vasoactive intestinal peptide
VIPR1 vasoactive intestinal peptide receptor 1
VIPR2 vasoactive intestinal peptide receptor 2
ZACN zinc activated ligand-gated ion channel