Paraganglioma Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Xref MGI. (Human Disease Ontology, DOID_0050773)
External Link https://www.disgenet.org/browser/0/1/0/C0030421
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Genes

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

Symbol Name
ACACA acetyl-CoA carboxylase alpha
AGRP agouti related neuropeptide
AIP aryl hydrocarbon receptor interacting protein
ARTN artemin
ATM ATM serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
BCL2 B-cell CLL/lymphoma 2
BMS1 BMS1 ribosome biogenesis factor
BRAF B-Raf proto-oncogene, serine/threonine kinase
C11ORF65 chromosome 11 open reading frame 65
CALCA calcitonin-related polypeptide alpha
CALM1 calmodulin 1 (phosphorylase kinase, delta)
CALM2 calmodulin 2 (phosphorylase kinase, delta)
CALM3 calmodulin 3 (phosphorylase kinase, delta)
CAMKMT calmodulin-lysine N-methyltransferase
CCND1 cyclin D1
CD274 CD274 molecule
CD44 CD44 molecule (Indian blood group)
CDC73 cell division cycle 73
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDKN2A cyclin-dependent kinase inhibitor 2A
CHGA chromogranin A
CHGB chromogranin B
CMAS cytidine monophosphate N-acetylneuraminic acid synthetase
CNTN4 contactin 4
COL11A2 collagen, type XI, alpha 2
CRYGD crystallin, gamma D
CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
CX3CL1 chemokine (C-X3-C motif) ligand 1
CXCR4 chemokine (C-X-C motif) receptor 4
DAXX death-domain associated protein
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DCTN6 dynactin 6
DLST dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
EDNRA endothelin receptor type A
EGLN1 egl-9 family hypoxia-inducible factor 1
EGLN2 egl-9 family hypoxia-inducible factor 2
ENG endoglin
ENO2 enolase 2 (gamma, neuronal)
ENPEP glutamyl aminopeptidase (aminopeptidase A)
EPAS1 endothelial PAS domain protein 1
ERBB2 erb-b2 receptor tyrosine kinase 2
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
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1
GATA3 GATA binding protein 3
GDNF glial cell derived neurotrophic factor
GNA12 guanine nucleotide binding protein (G protein) alpha 12
GPR68 G protein-coupled receptor 68
GRN granulin
GSK3B glycogen synthase kinase 3 beta
GUSB glucuronidase, beta
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HRAS Harvey rat sarcoma viral oncogene homolog
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IFI27 interferon, alpha-inducible protein 27
IGH immunoglobulin heavy locus
INSM1 insulinoma-associated 1
ISCU iron-sulfur cluster assembly enzyme
JAG2 jagged 2
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
KRIT1 KRIT1, ankyrin repeat containing
MAML3 mastermind-like 3 (Drosophila)
MAX MYC associated factor X
MDH2 malate dehydrogenase 2, NAD (mitochondrial)
MEN1 multiple endocrine neoplasia I
MERTK MER proto-oncogene, tyrosine kinase
MGMT O-6-methylguanine-DNA methyltransferase
MIB1 mindbomb E3 ubiquitin protein ligase 1
MITF microphthalmia-associated transcription factor
MKI67 marker of proliferation Ki-67
MPZL2 myelin protein zero-like 2
MTA1 metastasis associated 1
MUC1 mucin 1, cell surface associated
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYO5B myosin VB
NES nestin
NF1 neurofibromin 1
NLGN4X neuroligin 4, X-linked
NME1 NME/NM23 nucleoside diphosphate kinase 1
NNMT nicotinamide N-methyltransferase
NRTN neurturin
PARP1 poly (ADP-ribose) polymerase 1
PCNA proliferating cell nuclear antigen
PDE11A phosphodiesterase 11A
PDE8B phosphodiesterase 8B
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1
PGR progesterone receptor
PHOX2B paired-like homeobox 2b
PNMT phenylethanolamine N-methyltransferase
POMC proopiomelanocortin
PPARA peroxisome proliferator-activated receptor alpha
PPP2R1B protein phosphatase 2, regulatory subunit A, beta
PPY pancreatic polypeptide
PRDM2 PR domain containing 2, with ZNF domain
PROM1 prominin 1
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)
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
RASSF5 Ras association (RalGDS/AF-6) domain family member 5
RBP1 retinol binding protein 1, cellular
RET ret proto-oncogene
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1
S100A1 S100 calcium binding protein A1
S100B S100 calcium binding protein B
SARDH sarcosine dehydrogenase
SCO2 SCO2 cytochrome c oxidase assembly protein
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
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2
SLC22A18 solute carrier family 22, member 18
SLC25A11 solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC6A2 solute carrier family 6 (neurotransmitter transporter), member 2
SMAD4 SMAD family member 4
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SNAI1 snail family zinc finger 1
SORD sorbitol dehydrogenase
SSSCA1 Sjogren syndrome/scleroderma autoantigen 1
SST somatostatin
SSTR2 somatostatin receptor 2
STMN1 stathmin 1
SYP synaptophysin
TET1 tet methylcytosine dioxygenase 1
TH tyrosine hydroxylase
TICAM2 toll-like receptor adaptor molecule 2
TMED7 transmembrane emp24 protein transport domain containing 7
TMED7-TICAM2 TMED7-TICAM2 readthrough
TMEM127 transmembrane protein 127
TP53 tumor protein p53
TRAP1 TNF receptor-associated protein 1
TTR transthyretin
TWIST1 twist family bHLH transcription factor 1
TYMP thymidine phosphorylase
VCAM1 vascular cell adhesion molecule 1
VEGFA vascular endothelial growth factor A
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase