prion disease Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
Description A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83) (Experimental Factor Ontology, EFO_0004720)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:649
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Genes

119 genes associated with the disease prion disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

Symbol Name Standardized Value
TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast) 3.29961
PRNP prion protein 1.94389
ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7 1.89713
CRHR1 corticotropin releasing hormone receptor 1 1.8651
SNCA synuclein, alpha (non A4 component of amyloid precursor) 1.86278
MS4A6A membrane-spanning 4-domains, subfamily A, member 6A 1.77685
CLU clusterin 1.49866
PPP1R12B protein phosphatase 1, regulatory subunit 12B 1.46738
CD2AP CD2-associated protein 1.43186
SLC2A13 solute carrier family 2 (facilitated glucose transporter), member 13 1.37833
CHN2 chimerin 2 1.30086
ANK3 ankyrin 3, node of Ranvier (ankyrin G) 1.20788
CCDC62 coiled-coil domain containing 62 1.20112
ZBTB38 zinc finger and BTB domain containing 38 1.14463
CSMD2 CUB and Sushi multiple domains 2 1.1059
CPEB4 cytoplasmic polyadenylation element binding protein 4 1.00407
MFHAS1 malignant fibrous histiocytoma amplified sequence 1 1.00407
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 0.975492
CR1 complement component (3b/4b) receptor 1 (Knops blood group) 0.96839
PCSK6 proprotein convertase subtilisin/kexin type 6 0.950418
CSMD1 CUB and Sushi multiple domains 1 0.950418
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime 0.92437
SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 0.919371
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) 0.912226
MORC1 MORC family CW-type zinc finger 1 0.901524
MYO5A myosin VA (heavy chain 12, myoxin) 0.898875
SLC12A9 solute carrier family 12, member 9 0.898225
SHISA6 shisa family member 6 0.896938
LRRC4C leucine rich repeat containing 4C 0.896302
OCA2 oculocutaneous albinism II 0.894421
FRA10AC1 fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 0.884624
MBTPS2 membrane-bound transcription factor peptidase, site 2 0.882152
ARNTL2 aryl hydrocarbon receptor nuclear translocator-like 2 0.877396
UGT2B7 UDP glucuronosyltransferase 2 family, polypeptide B7 0.863433
ANKMY2 ankyrin repeat and MYND domain containing 2 0.863433
CTNNA2 catenin (cadherin-associated protein), alpha 2 0.856323
HTT huntingtin 0.852796
GRIK2 glutamate receptor, ionotropic, kainate 2 0.843377
DAGLA diacylglycerol lipase, alpha 0.830742
DZANK1 double zinc ribbon and ankyrin repeat domains 1 0.829868
ANO4 anoctamin 4 0.823542
COL23A1 collagen, type XXIII, alpha 1 0.819536
CPQ carboxypeptidase Q 0.817207
NCK2 NCK adaptor protein 2 0.801631
GAS7 growth arrest-specific 7 0.798811
NXPH2 neurexophilin 2 0.794936
C17ORF99 chromosome 17 open reading frame 99 0.789545
MCHR2 melanin-concentrating hormone receptor 2 0.783487
SRPK1 SRSF protein kinase 1 0.771525
LARP6 La ribonucleoprotein domain family, member 6 0.754478
GRK5 G protein-coupled receptor kinase 5 0.750108
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11 0.74664
LY86-AS1 LY86 antisense RNA 1 0.74447
LHFPL5 lipoma HMGIC fusion partner-like 5 0.744231
RBMS3 RNA binding motif, single stranded interacting protein 3 0.742344
PLCXD3 phosphatidylinositol-specific phospholipase C, X domain containing 3 0.739803
IL18R1 interleukin 18 receptor 1 0.732629
SLC9A4 solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 0.730983
WIPF3 WAS/WASL interacting protein family, member 3 0.729362
ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif, 12 0.726413
ZNF415 zinc finger protein 415 0.725966
ULK4 unc-51 like kinase 4 0.722673
ITPKB inositol-trisphosphate 3-kinase B 0.720744
NOC3L nucleolar complex associated 3 homolog (S. cerevisiae) 0.720532
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2 0.720109
SEC13 SEC13 homolog (S. cerevisiae) 0.715155
SCHIP1 schwannomin interacting protein 1 0.712171
DNAJC24 DnaJ (Hsp40) homolog, subfamily C, member 24 0.712171
TAF5L TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 0.705888
BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2 0.705518
SLC6A13 solute carrier family 6 (neurotransmitter transporter), member 13 0.700315
PALM2 paralemmin 2 0.696714
RBM11 RNA binding motif protein 11 0.689083
HIP1 huntingtin interacting protein 1 0.687839
CAMK2D calcium/calmodulin-dependent protein kinase II delta 0.685094
PROM1 prominin 1 0.684046
NPAS3 neuronal PAS domain protein 3 0.683898
SQRDL sulfide quinone reductase-like (yeast) 0.683009
CECR1 cat eye syndrome chromosome region, candidate 1 0.674805
TESPA1 thymocyte expressed, positive selection associated 1 0.67239
SCAI suppressor of cancer cell invasion 0.670682
NRXN3 neurexin 3 0.662072
MAPK4 mitogen-activated protein kinase 4 0.653298
ANO3 anoctamin 3 0.651654
IPCEF1 interaction protein for cytohesin exchange factors 1 0.650844
IL1RAP interleukin 1 receptor accessory protein 0.646446
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.64532
SLIT1 slit homolog 1 (Drosophila) 0.64313
CACNA1E calcium channel, voltage-dependent, R type, alpha 1E subunit 0.641015
MTMR7 myotubularin related protein 7 0.638262
C2CD2 C2 calcium-dependent domain containing 2 0.636995
KIF20B kinesin family member 20B 0.624931
SCGB1D2 secretoglobin, family 1D, member 2 0.622682
CORIN corin, serine peptidase 0.622315
KLHL7 kelch-like family member 7 0.62123
MVK mevalonate kinase 0.620518
KIAA0226 KIAA0226 0.618434
ITFG1 integrin alpha FG-GAP repeat containing 1 0.618094
BANK1 B-cell scaffold protein with ankyrin repeats 1 0.618094
PANK1 pantothenate kinase 1 0.614416
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 0.613722
SETBP1 SET binding protein 1 0.613722
ZFPM2 zinc finger protein, FOG family member 2 0.612357
ADAM22 ADAM metallopeptidase domain 22 0.611023
GP6 glycoprotein VI (platelet) 0.610041
ROPN1 rhophilin associated tail protein 1 0.608756
BCAT1 branched chain amino-acid transaminase 1, cytosolic 0.608439
RGS7 regulator of G-protein signaling 7 0.528154
PKNOX2 PBX/knotted 1 homeobox 2 0.484681
RPGRIP1L RPGRIP1-like 0.480048
ZNF74 zinc finger protein 74 0.47396
NTRK3 neurotrophic tyrosine kinase, receptor, type 3 0.471064
KIAA0368 KIAA0368 0.458115
PCDHGB4 protocadherin gamma subfamily B, 4 0.456144
ANK2 ankyrin 2, neuronal 0.454226
CATSPERD catsper channel auxiliary subunit delta 0.453238
TCF4 transcription factor 4 0.453002
LAMA3 laminin, alpha 3 0.449689
SYT1 synaptotagmin I 0.449656