Prader-Willi Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_11983)
External Link https://www.disgenet.org/browser/0/1/0/C0032897
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Genes

157 genes associated with the disease Prader-Willi Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ADIPOQ adiponectin, C1Q and collagen domain containing
ADIPOR1 adiponectin receptor 1
ADIPOR2 adiponectin receptor 2
AGRP agouti related neuropeptide
ALCAM activated leukocyte cell adhesion molecule
ANGPTL8 angiopoietin like 8
ANKRD36B ankyrin repeat domain 36B
APOC3 apolipoprotein C-III
AR androgen receptor
ARSA arylsulfatase A
ARSD arylsulfatase D
ATP10A ATPase, class V, type 10A
ATR ATR serine/threonine kinase
AVP arginine vasopressin
BCR breakpoint cluster region
BDNF brain-derived neurotrophic factor
BEST1 bestrophin 1
BGLAP bone gamma-carboxyglutamate (gla) protein
BRAF B-Raf proto-oncogene, serine/threonine kinase
CCL5 chemokine (C-C motif) ligand 5
CD36 CD36 molecule (thrombospondin receptor)
CENPJ centromere protein J
CEP63 centrosomal protein 63kDa
CHPT1 choline phosphotransferase 1
CIT citron rho-interacting serine/threonine kinase
CNR1 cannabinoid receptor 1 (brain)
CRP C-reactive protein, pentraxin-related
CYFIP1 cytoplasmic FMR1 interacting protein 1
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DAZ1 deleted in azoospermia 1
DHDDS dehydrodolichyl diphosphate synthase
DHX40 DEAH (Asp-Glu-Ala-His) box polypeptide 40
DIO3 deiodinase, iodothyronine, type III
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLK1 delta-like 1 homolog (Drosophila)
DMD dystrophin
EFNB2 ephrin-B2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EHMT2 euchromatic histone-lysine N-methyltransferase 2
EID1 EP300 interacting inhibitor of differentiation 1
ENHO energy homeostasis associated
EPHB1 EPH receptor B1
F2R coagulation factor II (thrombin) receptor
FMO2 flavin containing monooxygenase 2 (non-functional)
FMR1 fragile X mental retardation 1
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GABRG3 gamma-aminobutyric acid (GABA) A receptor, gamma 3
GAPDH glyceraldehyde-3-phosphate dehydrogenase
GCG glucagon
GH1 growth hormone 1
GHR growth hormone receptor
GHRH growth hormone releasing hormone
GHRL ghrelin/obestatin prepropeptide
GHSR growth hormone secretagogue receptor
GLP1R glucagon-like peptide 1 receptor
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GOLGA6A golgin A6 family, member A
GREM1 gremlin 1, DAN family BMP antagonist
HCRT hypocretin (orexin) neuropeptide precursor
HDC histidine decarboxylase
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HNRNPM heterogeneous nuclear ribonucleoprotein M
HSPG2 heparan sulfate proteoglycan 2
HTR2B 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
IGF1 insulin-like growth factor 1 (somatomedin C)
IL6 interleukin 6
KRAS Kirsten rat sarcoma viral oncogene homolog
LEP leptin
LEPR leptin receptor
LMLN leishmanolysin-like (metallopeptidase M8 family)
LZTR1 leucine-zipper-like transcription regulator 1
MAGED1 melanoma antigen family D1
MAGEL2 melanoma antigen family L2
MARK2 MAP/microtubule affinity-regulating kinase 2
MECP2 methyl CpG binding protein 2
MEN1 multiple endocrine neoplasia I
METAP2 methionyl aminopeptidase 2
MKRN3 makorin ring finger protein 3
MRAP2 melanocortin 2 receptor accessory protein 2
MSMB microseminoprotein, beta-
MST1 macrophage stimulating 1
MT-CYB cytochrome b
NDN necdin, melanoma antigen (MAGE) family member
NHLH2 nescient helix loop helix 2
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NIPA2 non imprinted in Prader-Willi/Angelman syndrome 2
NPAP1 nuclear pore associated protein 1
NPY neuropeptide Y
NPY2R neuropeptide Y receptor Y2
NR1I2 nuclear receptor subfamily 1, group I, member 2
NR4A1 nuclear receptor subfamily 4, group A, member 1
NSMCE3 NSE3 homolog, SMC5-SMC6 complex component
OCA2 oculocutaneous albinism II
PADI4 peptidyl arginine deiminase, type IV
PCSK1 proprotein convertase subtilisin/kexin type 1
PDPK1 3-phosphoinositide dependent protein kinase 1
PGC progastricsin (pepsinogen C)
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
PML promyelocytic leukemia
POM121 POM121 transmembrane nucleoporin
POMC proopiomelanocortin
PRDM9 PR domain containing 9
PREPL prolyl endopeptidase-like
PRKCA protein kinase C, alpha
PRL prolactin
PRNP prion protein
PROCR protein C receptor, endothelial
PTPA protein phosphatase 2 phosphatase activator
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PYY peptide YY
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RBMY1A1 RNA binding motif protein, Y-linked, family 1, member A1
RBMY1D RNA binding motif protein, Y-linked, family 1, member D
RCBTB1 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1
RETN resistin
RIT1 Ras-like without CAAX 1
RNF13 ring finger protein 13
SAG S-antigen; retina and pineal gland (arrestin)
SCG2 secretogranin II
SETDB1 SET domain, bifurcated 1
SIM1 single-minded family bHLH transcription factor 1
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SNRPN small nuclear ribonucleoprotein polypeptide N
SNURF SNRPN upstream reading frame
SOS1 son of sevenless homolog 1 (Drosophila)
SOST sclerostin
STAR steroidogenic acute regulatory protein
STATH statherin
STMN1 stathmin 1
STOML3 stomatin (EPB72)-like 3
STS steroid sulfatase (microsomal), isozyme S
TMPRSS13 transmembrane protease, serine 13
TNF tumor necrosis factor
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TSPY1 testis specific protein, Y-linked 1
TUBGCP5 tubulin, gamma complex associated protein 5
TWIST1 twist family bHLH transcription factor 1
TYR tyrosinase
UBE3A ubiquitin protein ligase E3A
UROD uroporphyrinogen decarboxylase
VEGFA vascular endothelial growth factor A
ZGLP1 zinc finger, GATA-like protein 1
ZNF274 zinc finger protein 274
ZNF654 zinc finger protein 654