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	creutzfeldt jakob disease

Disease ID	286
Disease	creutzfeldt jakob disease
Definition	A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))
Synonym	cjd cjd (creutzfeldt jakob disease) cjd (creutzfeldt-jakob disease) cjd - creutzfeldt-jakob disease cjd creutzfeldt jakob dis classic creutzfeldt-jakob disease creutzfeld-jakob disease creutzfeldt jacob disease creutzfeldt jakob dis creutzfeldt jakob syndrome creutzfeldt-jacob disease creutzfeldt-jakob disease creutzfeldt-jakob disease (disorder) creutzfeldt-jakob syndrome creutzfeldt-jakob syndrome [disease/finding] creutzfeldt-jakob's disease disease, creutzfeldt jacob disease, creutzfeldt-jakob disease, jakob-creutzfeldt encephalopathies, subacute spongiform encephalopathy, subacute spongiform jacob disease, creutzfeldt jakob creutzfeldt dis jakob creutzfeldt disease jakob creutzfeldt syndrome jakob-creutzfeld disease jakob-creutzfeldt disease jakob-creutzfeldt disease (disorder) jakob-creutzfeldt disease, unspecified jakob-creutzfeldt syndrome jcd - jakob-creutzfeldt disease spongiform enceph subacute spongiform encephalopathies, subacute spongiform encephalopathy subacute spongiform encephalopathy, subacute subacute spongiform encephalopathies subacute spongiform encephalopathy syndrome, creutzfeldt-jakob syndrome, jakob-creutzfeldt transmissible virus dementia transmissible virus dementia (disorder)
Orphanet	ORPHANET:204
OMIM	OMIM:123400
DOID	DOID:11949
UMLS	C0022336
MeSH	D007562
SNOMED-CT	SNOMEDCT_US_2016_09_01:792004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:15) C0497327 \| dementia \| 5 C0743039 \| progressive dementia \| 4 C0038220 \| status epilepticus \| 3 C0162534 \| spongiform encephalopathy \| 3 C0524851 \| neurodegenerative disease \| 2 C0524851 \| neurodegenerative diseases \| 2 C0031069 \| familial mediterranean fever \| 1 C0002395 \| alzheimer's disease \| 1 C0851578 \| sleep disorders \| 1 C1527336 \| sjogren syndrome \| 1 C0043046 \| wasting disease \| 1 C0011570 \| depression \| 1 C0027765 \| neurological disease \| 1 C1135993 \| chronic wasting disease \| 1 C0752347 \| dementia with lewy bodies \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:14) 216 \| ALDH1A1 \| CTD_human 3119 \| HLA-DQB1 \| CTD_human 5621 \| PRNP \| CLINVAR;CTD_human;GWASCAT;UNIPROT;ORPHANET 780851 \| SNORD3A \| CTD_human 3822 \| KLRC2 \| CTD_human 8360 \| HIST1H4D \| CTD_human 7280 \| TUBB2A \| CTD_human 22926 \| ATF6 \| CTD_human 79644 \| SRD5A3 \| CTD_human 151507 \| MSL3P1 \| CTD_human 79974 \| CPED1 \| CTD_human 319101 \| KRT73 \| CTD_human 9108 \| MTMR7 \| GWASCAT 692157 \| SNORA16B \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:25) 5621 \| PRNP \| CIPHER;CTD_human 23627 \| PRND \| CIPHER 102 \| ADAM10 \| CIPHER 348 \| APOE \| CIPHER 149830 \| PRNT \| CIPHER 11075 \| STMN2 \| CIPHER 1509 \| CTSD \| CIPHER 3574 \| IL7 \| CIPHER 9108 \| MTMR7 \| CIPHER 79031 \| PDCL3 \| CIPHER 63876 \| PKNOX2 \| CIPHER 7103 \| TSPAN8 \| CIPHER 4137 \| MAPT \| CIPHER 780851 \| SNORD3A \| CTD_human 3822 \| KLRC2 \| CTD_human 8360 \| HIST1H4D \| CTD_human 79644 \| SRD5A3 \| CTD_human 7280 \| TUBB2A \| CTD_human 151507 \| MSL3P1 \| CTD_human 79974 \| CPED1 \| CTD_human 216 \| ALDH1A1 \| CTD_human 319101 \| KRT73 \| CTD_human 692157 \| SNORA16B \| CTD_human 3119 \| HLA-DQB1 \| CTD_human 22926 \| ATF6 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:27) 160 \| AP2A1 \| 2.416 \| DISEASES 203228 \| C9orf72 \| 1.005 \| DISEASES 23066 \| CAND2 \| 2.258 \| DISEASES 100506742 \| CASP12 \| 1.305 \| DISEASES 875 \| CBS \| 1.261 \| DISEASES 1270 \| CNTF \| 1.249 \| DISEASES 9244 \| CRLF1 \| 1.719 \| DISEASES 29103 \| DNAJC15 \| 3.038 \| DISEASES 80331 \| DNAJC5 \| 2.397 \| DISEASES 2258 \| FGF13 \| 1.054 \| DISEASES 2534 \| FYN \| 1.153 \| DISEASES 9446 \| GSTO1 \| 1.648 \| DISEASES 3005 \| H1F0 \| 1.392 \| DISEASES 23764 \| MAFF \| 2.821 \| DISEASES 4137 \| MAPT \| 2.435 \| DISEASES 4477 \| MSMB \| 3.261 \| DISEASES 8856 \| NR1I2 \| 1.043 \| DISEASES 11315 \| PARK7 \| 1.073 \| DISEASES 5294 \| PIK3CG \| 1.429 \| DISEASES 10687 \| PNMA2 \| 4.151 \| DISEASES 5621 \| PRNP \| 6.482 \| DISEASES 149830 \| PRNT \| 2.973 \| DISEASES 5649 \| RELN \| 1.505 \| DISEASES 399 \| RHOH \| 2.496 \| DISEASES 6623 \| SNCG \| 1.785 \| DISEASES 503542 \| SPRN \| 2.376 \| DISEASES 7018 \| TF \| 1.31 \| DISEASES
Locus	(Waiting for update.)

Disease ID	286
Disease	creutzfeldt jakob disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:19) HP:0000605 \| Supranuclear gaze paralysis HP:0000505 \| Poor vision HP:0007076 \| Extrapyramidal muscular rigidity HP:0000738 \| Sensory hallucination HP:0001289 \| Confusion HP:0000741 \| Apathy HP:0000746 \| Delusions HP:0002922 \| Increased CSF protein HP:0000716 \| Depression HP:0001269 \| Hemiparesis HP:0002066 \| Gait ataxia HP:0000737 \| Irritability HP:0000726 \| Dementia HP:0005327 \| Loss of facial expression HP:0002381 \| Aphasia HP:0002354 \| Memory loss HP:0000739 \| Anxiety HP:0000751 \| Personality changes HP:0001336 \| Myoclonic jerks
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:15) HP:0000726 \| Dementia \| 7 HP:0100315 \| Lewy bodies \| 4 HP:0002133 \| Status epilepticus \| 3 HP:0001298 \| Encephalopathy \| 3 HP:0001268 \| Mental deterioration \| 2 HP:0001336 \| Myoclonic jerks \| 2 HP:0003470 \| Inability to move \| 1 HP:0100022 \| Movement disorder \| 1 HP:0001250 \| Seizures \| 1 HP:0002367 \| Visual hallucinations \| 1 HP:0000738 \| Sensory hallucination \| 1 HP:0002446 \| Astrocytosis \| 1 HP:0000716 \| Depression \| 1 HP:0001297 \| Cerebral vascular events \| 1 HP:0001269 \| Hemiparesis \| 1

Disease ID	286
Disease	creutzfeldt jakob disease
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:5) C0751523 \| nonconvulsive status epilepticus \| 3 C0497327 \| dementia \| 3 C0021311 \| infections \| 2 C0018989 \| hemiparesis \| 1 C0027066 \| myoclonus \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:75)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs12273350	22137330	63876	PKNOX2	umls:C0022336	GAD	[Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.]	0.002367032	2012	PKNOX2	11	125371150	G	A
rs140842009	18325785	5621	PRNP	umls:C0022336	BeFree	Point mutations M232R (PrP(232R)), M232T (PrP(232T)), and P238S (PrP(238S)) in the glycosylphosphatidylinositol signal peptide (GPI-SP) of the prion protein (PrP(C)) segregate with familial Creutzfeldt-Jakob disease (CJD).	0.858675489	2008	GPI	19	34378959	C	T
rs1460163	19081515	3574	IL7	umls:C0022336	GAD	[The polymorphic codon 129 of PRNP was the main genetic risk factor for vCJD; however, additional candidate loci have been identified, which justifies functional analyses of these biological pathways in prion disease.]	0.002367032	2009	NA	8	79315213	G	A
rs1460163	19081515	11075	STMN2	umls:C0022336	GAD	[Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study.]	0.002638474	2009	NA	8	79315213	G	A
rs1495377	22137330	7103	TSPAN8	umls:C0022336	GAD	[Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.]	0.002367032	2012	NA	12	71183321	G	C
rs17571	18426579	1509	CTSD	umls:C0022336	GAD	[This mutation event has been observed to alter the protease activity of the cathepsin D protein and has been linked to an increase in amyloid beta plaque formation in AD.]	0.01036833	2008	CTSD	11	1761364	G	A
rs1799990	19081515	5621	PRNP	umls:C0022336	GWASCAT	A similar association was found in a small sample of patients with iatrogenic CJD (p=0.030) but not in patients with sporadic CJD (sCJD) or kuru.	0.858675489	2009	PRNP	20	4699605	A	G
rs1799990	8647879	5621	PRNP	umls:C0022336	BeFree	FFI and a familial type of Creutzfeldt-Jakob disease (CJD178), share the D178N mutation in the PrP gene but have distinct phenotypes linked to codon 129, the site of a methionine/valine polymorphism (129M/V).	0.858675489	1996	PRNP	20	4699605	A	G
rs1799990	12815603	5621	PRNP	umls:C0022336	BeFree	A total of 616 chromosomes from control individuals of all major continental groups, and six individuals affected by either Creutzfeldt-Jakob disease (CJD) or fatal familial insomnia (FFI), were typed with a new single-reaction protocol method and were also sequenced, with total reproducibility to screen variation at important positions (385A>G: M129V and 655G>A: E219K) in the human prion protein gene (PRNP).	0.858675489	2003	PRNP	20	4699605	A	G
rs1799990	19081515	5621	PRNP	umls:C0022336	GAD	[A similar association was found in a small sample of patients with iatrogenic CJD (p=0.030) but not in patients with sporadic CJD (sCJD) or kuru.]	0.858675489	2009	PRNP	20	4699605	A	G
rs1799990	21600043	5621	PRNP	umls:C0022336	BeFree	An important determinant for CJD risk and phenotype is the M129V polymorphism of the human prion protein gene (PRNP), but there are also other coding and non-coding polymorphisms inside this gene.	0.858675489	2011	PRNP	20	4699605	A	G
rs1799990	17202849	5621	PRNP	umls:C0022336	BeFree	The polymorphism at codon 129 (M129V) of the human prion protein gene (PRNP) is a known risk factor for Creutzfeldt-Jakob disease (CJD) in Caucasians.	0.858675489	2006	PRNP	20	4699605	A	G
rs1799990	11840201	5621	PRNP	umls:C0022336	BeFree	Distribution of the M129V polymorphism of the prion protein gene in a Turkish population suggests a high risk for Creutzfeldt-Jakob disease.	0.858675489	2001	PRNP	20	4699605	A	G
rs1799990	16897605	5621	PRNP	umls:C0022336	BeFree	Prion protein gene polymorphism M129V represents a known risk factor for Creutzfeldt-Jakob disease.	0.858675489	2006	PRNP	20	4699605	A	G
rs1799990	16324095	5621	PRNP	umls:C0022336	BeFree	The polymorphism at codon 129 (M129V) of the prion protein gene (PRNP) is a recognized genetic marker for susceptibility to Creutzfeldt-Jakob disease (CJD) in the Caucasians.	0.858675489	2005	PRNP	20	4699605	A	G
rs1799990	NA	5621	PRNP	umls:C0022336	CLINVAR	NA	0.858675489	NA	PRNP	20	4699605	A	G
rs1799990	18236005	5621	PRNP	umls:C0022336	BeFree	Our proband was MM homozygous for the M129V polymorphism within the prion protein gene (PRNP), a known risk factor for CJD.	0.858675489	2008	PRNP	20	4699605	A	G
rs1800014	12815603	5621	PRNP	umls:C0022336	BeFree	A total of 616 chromosomes from control individuals of all major continental groups, and six individuals affected by either Creutzfeldt-Jakob disease (CJD) or fatal familial insomnia (FFI), were typed with a new single-reaction protocol method and were also sequenced, with total reproducibility to screen variation at important positions (385A>G: M129V and 655G>A: E219K) in the human prion protein gene (PRNP).	0.858675489	2003	PRNP	20	4699875	G	A
rs193922906	NA	5621	PRNP	umls:C0022336	CLINVAR	NA	0.858675489	NA	NA	NA	NA	NA	NA
rs28933385	25279981	5621	PRNP	umls:C0022336	BeFree	Three independent reports have claimed anticipation in Creutzfeldt-Jakob disease (CJD) caused by the c.598G > A mutation in PRNP encoding a p.Glu200Lys (E200K) substitution in the prion protein.	0.858675489	2014	PRNP	20	4699818	G	A
rs28933385	20593190	5621	PRNP	umls:C0022336	BeFree	The E200K mutation is the most frequent prion protein gene (PRNP) mutation detected worldwide that is associated with Creutzfeldt-Jakob disease (CJD) and thought to have overlapping features with sporadic CJD, yet detailed neuropathological studies have not been reported.	0.858675489	2011	PRNP	20	4699818	G	A
rs28933385	20529115	5621	PRNP	umls:C0022336	BeFree	Codon 129 polymorphism and the E200K mutation do not affect the cellular prion protein isoform composition in the cerebrospinal fluid from patients with Creutzfeldt-Jakob disease.	0.858675489	2010	PRNP	20	4699818	G	A
rs28933385	22318125	5621	PRNP	umls:C0022336	BeFree	Recently, we reported widespread intraneuronal prion protein (PrP) immunoreactivity in genetic Creutzfeldt-Jakob disease (CJD) associated with the E200K mutation.	0.858675489	2012	PRNP	20	4699818	G	A
rs28933385	10665501	5621	PRNP	umls:C0022336	BeFree	Creutzfeldt-Jakob disease profile in patients homozygous for the PRNP E200K mutation.	0.858675489	2000	PRNP	20	4699818	G	A
rs28933385	10522892	5621	PRNP	umls:C0022336	BeFree	Creutzfeldt-Jakob disease (CJD) linked to the E200K mutation of the prion protein (PrP) gene presents within a wide range of phenotypic heterogeneity, including the age at disease onset.	0.858675489	1999	PRNP	20	4699818	G	A
rs28933385	23565236	5621	PRNP	umls:C0022336	BeFree	Age at Death of Creutzfeldt-Jakob disease in subsequent family generation carrying the E200K mutation of the prion protein gene.	0.858675489	2013	PRNP	20	4699818	G	A
rs28933385	11259483	5621	PRNP	umls:C0022336	BeFree	Creutzfeldt-Jakob disease (CJD) in Libyan Jews, linked to the E200K mutation in PRNP (E200KCJD), is the most prevalent of the inherited prion diseases.	0.858675489	2001	PRNP	20	4699818	G	A
rs28933385	19597763	5621	PRNP	umls:C0022336	BeFree	Creutzfeldt-Jakob disease with E200K PRNP mutation: a case report and revision of the literature.	0.858675489	2009	PRNP	20	4699818	G	A
rs28933385	NA	5621	PRNP	umls:C0022336	CLINVAR	NA	0.858675489	NA	PRNP	20	4699818	G	A
rs28933385	12197632	5621	PRNP	umls:C0022336	BeFree	In the Slovak CJD group 95 out of 136 CJD cases (74.2%) carried a CJD-specific mutation in the prion protein gene (PRNP) at codon 200 (mutation E200K).	0.858675489	2002	PRNP	20	4699818	G	A
rs28933385	23296137	5621	PRNP	umls:C0022336	BeFree	Molecular analysis confirmed genetic CJD (PRNP E200K mutation).	0.858675489	2013	PRNP	20	4699818	G	A
rs28933385	21508834	5621	PRNP	umls:C0022336	BeFree	The purpose of this study was (1) to detect asymptomatic carriers of the prion protein gene mutation E200K, which is associated with Creutzfeldt-Jakob disease (CJD), in corneal donors and in the general population of Slovakia and (2) to assess the genetic testing of corneal donors as an effective preventive measure against iatrogenic infection in a country with an unusually high incidence of genetic CJD.	0.858675489	2011	PRNP	20	4699818	G	A
rs28933385	10360778	5621	PRNP	umls:C0022336	BeFree	A novel phenotype of familial Creutzfeldt-Jakob disease (CJD) with mutated codon 200 of the prion protein gene (PRNP) coupled with the valine codon 129 (E200K-129V haplotype) has two features never observed in subjects carrying the pathogenic mutation coupled with the methionine codon 129 (E200K-129M haplotype): (1) plaque-like prion protein (PrP) deposits in the cerebellum and (2) type 2 protease-resistant prion protein (PrP(res)).	0.858675489	1999	PRNP	20	4699818	G	A
rs28933385	12677444	5621	PRNP	umls:C0022336	BeFree	Distinctive cerebellar immunoreactivity for the prion protein in familial (E200K) Creutzfeldt-Jakob disease.	0.858675489	2003	PRNP	20	4699818	G	A
rs28933385	20514992	5621	PRNP	umls:C0022336	BeFree	The first Chinese case of Creutzfeldt-Jakob disease with mutation of E200K in PRNP.	0.858675489	2010	PRNP	20	4699818	G	A
rs28933385	8529127	5621	PRNP	umls:C0022336	BeFree	Complete penetrance of Creutzfeldt-Jakob disease in Libyan Jews carrying the E200K mutation in the prion protein gene.	0.858675489	1995	PRNP	20	4699818	G	A
rs28933385	20730466	5621	PRNP	umls:C0022336	BeFree	An atypical phenotype of CJD associated with the E200K mutation in the prion protein gene.	0.858675489	2010	PRNP	20	4699818	G	A
rs28933385	22026293	5621	PRNP	umls:C0022336	BeFree	Slovakia is characterised by an unusually high number of patients affected by genetic Creutzfeldt-Jakob disease (CJD) with E200K mutation at the PRNP gene.	0.858675489	2011	PRNP	20	4699818	G	A
rs295301	22210626	253461	ZBTB38	umls:C0022336	BeFree	SNPs at the ZBTB38-RASA2 locus were associated with CJD in the UK (rs295301, P = 3.13 × 10(-8); OR, 0.70) but these SNPs showed no replication evidence of association in German sCJD or in Papua New Guinea-based tests.	0.000271442	2012	NA	3	141619799	G	A
rs295301	22210626	5922	RASA2	umls:C0022336	BeFree	SNPs at the ZBTB38-RASA2 locus were associated with CJD in the UK (rs295301, P = 3.13 × 10(-8); OR, 0.70) but these SNPs showed no replication evidence of association in German sCJD or in Papua New Guinea-based tests.	0.000271442	2012	NA	3	141619799	G	A
rs398122370	10790216	5621	PRNP	umls:C0022336	BeFree	Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.	0.858675489	2000	PRNP	20	4699851	G	C
rs398122370	NA	5621	PRNP	umls:C0022336	CLINVAR	NA	0.858675489	NA	PRNP	20	4699851	G	C
rs4921542	22137330	9108	MTMR7	umls:C0022336	GAD	[Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.]	0.122638474	2012	MTMR7;LOC102724838	8	17348068	T	G
rs4921542	22137330	9108	MTMR7	umls:C0022336	GWASCAT	Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.	0.122638474	2012	MTMR7;LOC102724838	8	17348068	T	G
rs6107516	22137330	5621	PRNP	umls:C0022336	GWASCAT	Post hoc analysis to assess our main results included 5711 French controls, 445 Dutch controls, and 446 sporadic Creutzfeldt-Jakob disease (CJD) cases.	0.858675489	2012	PRNP	20	4696446	G	A
rs74315401	16597650	5621	PRNP	umls:C0022336	BeFree	A proline-to-leucine substitution at prion protein (PrP) residue 102 (P102L), classically associated with the Gerstmann-Sträussler-Scheinker (GSS) phenotype, also shows marked clinical and pathological heterogeneity, including patients with a Creutzfeldt-Jakob disease (CJD) phenotype.	0.858675489	2006	PRNP	20	4699525	C	T
rs74315401	8520719	5621	PRNP	umls:C0022336	BeFree	In contrast, a recent case with proven P102L mutation of the PRNP gene had rapidly developing dementia and severe cortical damage indistinguishable from the clinicopathological phenotype of Creutzfeldt-Jakob disease (CJD).	0.858675489	1995	PRNP	20	4699525	C	T
rs74315402	19675240	5621	PRNP	umls:C0022336	BeFree	The biophysical properties of PrP from Tg(A116V) mice and human GSS(A117V) revealed a similarly low fraction of insoluble PrP and a weakly protease-resistant approximately 13 kDa midspan PrP fragment, not observed in CJD.	0.858675489	2009	PRNP	20	4699570	C	T
rs74315403	NA	5621	PRNP	umls:C0022336	CLINVAR	NA	0.858675489	NA	PRNP	20	4699752	G	A
rs74315403	24118545	5621	PRNP	umls:C0022336	BeFree	Panencephalopathic Creutzfeldt-Jakob disease with distinct pattern of prion protein deposition in a patient with D178N mutation and homozygosity for valine at codon 129 of the prion protein Gene.	0.858675489	2013	PRNP	20	4699752	G	A
rs74315403	21071944	5621	PRNP	umls:C0022336	BeFree	Fatal familial insomnia (FFI) and genetic Creutzfeldt-Jakob disease (CJD(D178N,)(129V)) are two phenotypes that share a common point mutation at codon 178 of the prion protein gene (PRNP), but differ in their polymorphism at codon 129 of the mutant allele.	0.858675489	2010	PRNP	20	4699752	G	A
rs74315403	9288728	5621	PRNP	umls:C0022336	BeFree	We investigated the allelic origin of PrP(res) in brains of subjects heterozygous for the D178N mutation linked to fatal familial insomnia (FFI) and a subtype of Creutzfeldt-Jakob disease (CJD178), as well as for insertional mutations associated with another CJD subtype.	0.858675489	1997	PRNP	20	4699752	G	A
rs74315403	8647879	5621	PRNP	umls:C0022336	BeFree	FFI and a familial type of Creutzfeldt-Jakob disease (CJD178), share the D178N mutation in the PrP gene but have distinct phenotypes linked to codon 129, the site of a methionine/valine polymorphism (129M/V).	0.858675489	1996	PRNP	20	4699752	G	A
rs74315403	12849238	5621	PRNP	umls:C0022336	BeFree	Accumulation of an isoform of protease-resistant PrP fragment in FFI distinct from that found in a familial form of Creutzfeldt-Jakob disease with the same D178N mutation, shows the effect of the polymorphism at codon 129 of PRNP on phenotypic expression and the possibility of distinct prion strains with diverse pathological potential.	0.858675489	2003	PRNP	20	4699752	G	A
rs74315403	9531435	5621	PRNP	umls:C0022336	BeFree	The D178N mutation, known to be linked to 2 different phenotypes: Fatal Familial Insomnia (FFI) and CJD, was not described so far among Jews.	0.858675489	1998	PRNP	20	4699752	G	A
rs74315407	10526198	5621	PRNP	umls:C0022336	BeFree	Mutation at codon 210 (V210I) of the prion protein gene in a North African patient with Creutzfeldt-Jakob disease.	0.858675489	1999	PRNP	20	4699848	G	A
rs74315407	NA	5621	PRNP	umls:C0022336	CLINVAR	NA	0.858675489	NA	PRNP	20	4699848	G	A
rs74315407	25450391	5621	PRNP	umls:C0022336	BeFree	Different mechanisms can be hypothesized to explain the pathogenic role of mutant residues: V210I and R208H substitutions can increase the concentration of PrP(C) and the probability to form insoluble aggregates, or they may facilitate the formation of pathological intermediates, or, alternatively, they may increase the affinity for ligands that are involved in the initial phases of PrP(CJD) formation and aggregation.	0.858675489	2014	PRNP	20	4699848	G	A
rs74315408	21269331	5621	PRNP	umls:C0022336	BeFree	An autopsied case of V180I Creutzfeldt-Jakob disease presenting with panencephalopathic-type pathology and a characteristic prion protein type.	0.858675489	2011	PRNP	20	4699758	G	A
rs74315408	19703264	5621	PRNP	umls:C0022336	BeFree	An autopsy case of Creutzfeldt-Jakob disease with a V180I mutation of the PrP gene and Alzheimer-type pathology.	0.858675489	2010	PRNP	20	4699758	G	A
rs74315408	25482600	5621	PRNP	umls:C0022336	BeFree	Rare V180I mutation in PRNP gene of a Chinese patient with Creutzfeldt-Jakob disease.	0.858675489	2015	PRNP	20	4699758	G	A
rs74315408	20051687	5621	PRNP	umls:C0022336	BeFree	The present study reported DWI results in cases of familial CJD with a V180I mutation (CJD180) in the prion protein gene as well as neurological findings.	0.858675489	2009	PRNP	20	4699758	G	A
rs74315408	NA	5621	PRNP	umls:C0022336	CLINVAR	NA	0.858675489	NA	PRNP	20	4699758	G	A
rs74315409	NA	5621	PRNP	umls:C0022336	CLINVAR	NA	0.858675489	NA	PRNP	20	4699915	T	G
rs74315409	19422537	5621	PRNP	umls:C0022336	BeFree	Patients with genetic Creutzfeldt-Jakob disease in which arginine is substituted for methionine at codon 232 (M232R) of the prion protein gene (CJD232) have been described in Japan, and a recent study has revealed the presence of two clinical phenotypes: a rapidly progressive type (rapid-type) and a slowly progressive type (slow-type).	0.858675489	2009	PRNP	20	4699915	T	G
rs74315409	21983261	5621	PRNP	umls:C0022336	BeFree	Creutzfeldt-Jakob disease with the M232R mutation in the prion protein gene in two cases showing different disease courses: a clinicopathological study.	0.858675489	2012	PRNP	20	4699915	T	G
rs74315409	17965961	5621	PRNP	umls:C0022336	BeFree	To describe the clinical features of Creutzfeldt-Jakob disease with a substitution of arginine for methionine (M232R substitution) at codon 232 (CJD232) of the prion protein gene (PRNP).	0.858675489	2007	PRNP	20	4699915	T	G
rs74315409	18325785	5621	PRNP	umls:C0022336	BeFree	Point mutations M232R (PrP(232R)), M232T (PrP(232T)), and P238S (PrP(238S)) in the glycosylphosphatidylinositol signal peptide (GPI-SP) of the prion protein (PrP(C)) segregate with familial Creutzfeldt-Jakob disease (CJD).	0.858675489	2008	PRNP	20	4699915	T	G
rs74315412	NA	5621	PRNP	umls:C0022336	CLINVAR	NA	0.858675489	NA	PRNP	20	4699843	G	A
rs74315412	15753435	5621	PRNP	umls:C0022336	BeFree	Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene.	0.858675489	2005	PRNP	20	4699843	G	A
rs74315412	15739100	5621	PRNP	umls:C0022336	BeFree	Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragment.	0.858675489	2005	PRNP	20	4699843	G	A
rs74315412	21791975	5621	PRNP	umls:C0022336	BeFree	The first Chinese case of Creutzfeldt-Jakob disease patient with R208H mutation in PRNP.	0.858675489	2011	PRNP	20	4699843	G	A
rs74315412	25450391	5621	PRNP	umls:C0022336	BeFree	Different mechanisms can be hypothesized to explain the pathogenic role of mutant residues: V210I and R208H substitutions can increase the concentration of PrP(C) and the probability to form insoluble aggregates, or they may facilitate the formation of pathological intermediates, or, alternatively, they may increase the affinity for ligands that are involved in the initial phases of PrP(CJD) formation and aggregation.	0.858675489	2014	PRNP	20	4699843	G	A
rs7565981	22137330	79031	PDCL3	umls:C0022336	GAD	[Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.]	0.002367032	2012	NA	2	100807869	G	A
rs75932628	25160042	54209	TREM2	umls:C0022336	BeFree	We used next generation sequencing of the whole gene (n = 700), exon 2 Sanger sequencing (n = 2634), p.R47H genotyping (n = 3518), and genome wide association study imputation (n = 13,048) to determine whether TREM2 variants are risk factors or phenotypic modifiers in patients with AD (n = 1002), frontotemporal dementia (n = 358), sporadic (n = 2500), and variant (n = 115) Creutzfeldt-Jakob disease (CJD).	0.000271442	2014	TREM2;LOC105375056	6	41161514	C	A,T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:43)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
1	21742737	rs10916983	T	C	rs10916983	22137330	9.15E-06	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	NA	NA
1	162905434	rs6681091	T	G	rs6681091	22137330	2.40E-06	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	T	NA
1	204367668	rs3014622	G	C	rs3014622	22137330	1.09E-05	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	C	NA
1	240919970	rs16848948	T	C	rs16848948	22137330	5.41E-05	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	T	NA
1	240963070	rs16840647	A	G	rs16840647	22137330	4.02E-07	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	A	RGS7
2	101424331	rs7565981	G	A	rs7565981	22137330	4.00E-08	NA	2.98	[2.03-4.35]	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	G	NA
2	101958295	rs4851422	G	A	rs4851422	22137330	3.13E-05	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	A	NA
4	114085448	rs407709	A	T	rs407709	22137330	3.94E-05	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	A	ANK2
4	188030901	rs1487590	G	A	rs1487590	22137330	4.79E-05	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	G	NA
5	41504813	rs662066	A	G	rs662066	22137330	9.28E-06	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	A	PLCXD3
5	41505689	rs676328	T	C	rs676328	22137330	5.73E-07	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	C	PLCXD3
5	41506860	rs3863150	T	C	rs3863150	22137330	5.73E-07	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	A	PLCXD3
5	140855329	rs4151701	G	A	rs4151701	22137330	3.45E-05	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	G	PCDHGB4
6	6909328	rs9392131	T	C	rs9392131	22137330	2.39E-05	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	C	NA
6	71835518	rs1857224	A	G	rs1857224	22137330	4.88E-05	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	G	NA
8	17205577	rs4921542	T	G	rs4921542	22137330	2.00E-08	NA	3.25	[2.22-4.78]	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	G	MTMR7
8	80227448	rs1460163	G	A	rs1460163	19081515	6.00E-08	NA	NA	NA	117 CJD cases; 3,083 controls	NOPOP(3200)	ALL(3200)	NOPOP(3200)	ALL(3200)	Creutzfeldt-Jakob disease	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	rs1460163-A	Research Support, Non-U.S. Gov't	Research Support, U.S. Gov't, Non-P.H.S.	A
9	114155811	rs3737126	T	C	rs3737126	22137330	3.01E-05	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	T	KIAA0368
11	125241046	rs12273350	G	A	rs12273350	22137330	2.00E-06	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	A	PKNOX2
12	71411561	rs7132840	T	G	rs7132840	22137330	4.18E-05	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	T	NA
12	71558448	rs17226863	G	C	rs17226863	22137330	1.02E-05	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	G	NA
12	71566754	rs7972188	T	C	rs7972188	22137330	1.83E-05	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	T	NA
12	71566956	rs1510937	T	C	rs1510937	22137330	2.28E-05	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	T	NA
12	71577101	rs1495377	G	C	rs1495377	22137330	2.00E-06	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	G	NA
12	79460072	rs17273464	G	A	rs17273464	22137330	5.31E-05	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	G	SYT1
15	88709057	rs17830422	T	C	rs17830422	22137330	8.88E-06	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	T	NTRK3
16	53648482	rs9922369	G	A	rs9922369	22137330	3.36E-06	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	G	RPGRIP1L
16	76935150	rs1496961	T	G	rs1496961	22137330	3.50E-05	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	A	NA
16	76949414	rs1580765	G	A	rs1580765	22137330	2.36E-05	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	A	NA
16	76954287	rs1874536	G	A	rs1874536	22137330	2.61E-05	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	A	NA
16	76955287	rs4519342	A	T	rs4519342	22137330	3.39E-05	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	T	NA
16	76978695	rs12598288	A	G	rs12598288	22137330	5.55E-05	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	A	NA
17	1657073	rs8074026	T	C	rs8074026	22137330	2.00E-10	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	C	SERPINF2
18	21515391	rs1154238	G	A	rs1154238	22137330	5.30E-05	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	A	LAMA3
18	53267742	rs17061809	C	G	rs17061809	22137330	4.29E-05	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	C	TCF4
19	5743824	rs3097891	A	G	rs3097891	22137330	4.22E-05	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	A	CATSPERD
20	4677092	rs6107516	G	A	rs6107516	22137330	3.00E-18	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	G	PRNP
20	4680251	rs1799990	A	G	rs1799990	19081515	2.00E-21	NA	NA	NA	117 CJD cases; 3,083 controls	NOPOP(3200)	ALL(3200)	NOPOP(3200)	ALL(3200)	Creutzfeldt-Jakob disease	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	rs1799990-A	Research Support, Non-U.S. Gov't	Research Support, U.S. Gov't, Non-P.H.S.	A
20	4683295	rs2065706	T	C	rs2065706	22137330	3.50E-09	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	A	NA
20	4689474	rs6052780	G	A	rs6052780	22137330	8.03E-08	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	A	NA
20	4698626	rs6116492	G	T	rs6116492	22137330	5.00E-07	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	T	NA
22	20761899	rs887023	C	T	rs887023	22137330	6.59E-06	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	T	ZNF74
X	72743401	rs17312304	T	G	rs17312304	22137330	3.59E-05	NA	NA	NA	93 European ancestry cases; 1,504 European ancestry controls	European(1597)	ALL(1597)	EUR(1597)	ALL(1597)	Creutzfeldt-Jakob disease (variant)	HPOID:0000708	Behavioral abnormality	DOID:11949	Creutzfeldt-Jakob syndrome	D007562	Creutzfeldt-Jakob Syndrome	EFOID:0004226	creutzfeldt jacob disease	Creutzfeldt-Jakob syndrome	NA	Research Support, Non-U.S. Gov't	G	NA

Mapped by lexical matching(Total Items:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002922	Increased CSF protein	MP:0008469	abnormal protein level	anomaly in the amount of any of the macromolecules consisting of long chains of amino acids in peptide linkage
HP:0002066	Gait ataxia	MP:0001393	ataxia	inability to coordinate voluntary muscular movements

Mapped by homologous gene(Total Items:19)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0007076	Extrapyramidal muscular rigidity	MP:0020187	altered susceptibility to prion infection	altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is
HP:0000737	Irritability	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000739	Anxiety	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000726	Dementia	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002066	Gait ataxia	MP:0020187	altered susceptibility to prion infection	altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is
HP:0000738	Hallucinations	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001289	Confusion	MP:0020187	altered susceptibility to prion infection	altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is
HP:0000716	Depression	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002381	Aphasia	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000605	Supranuclear gaze palsy	MP:0020187	altered susceptibility to prion infection	altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is
HP:0002354	Memory impairment	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000505	Visual impairment	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000741	Apathy	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0005327	Loss of facial expression	MP:0020187	altered susceptibility to prion infection	altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is
HP:0001269	Hemiparesis	MP:0020216	decreased circulating complement protein level	less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0001336	Myoclonus	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002922	Increased CSF protein	MP:0020215	impaired blood coagulation	impaired ability of the blood to clot
HP:0000751	Personality changes	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000746	Delusions	MP:0020187	altered susceptibility to prion infection	altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is

Disease ID	286
Disease	creutzfeldt jakob disease
Case	(Waiting for update.)