Aliases & Classifications for Genetic Prion Disease

MalaCards integrated aliases for Genetic Prion Disease:

Name: Genetic Prion Disease 25 29 6

Characteristics:

GeneReviews:

25
Penetrance The penetrance for genetic prion disease in general is assumed to be 100%; however, only a limited number of studies have been performed to address this issue....

Summaries for Genetic Prion Disease

MalaCards based summary : Genetic Prion Disease is related to creutzfeldt-jakob disease and prion disease. An important gene associated with Genetic Prion Disease is PRNP (Prion Protein). Affiliated tissues include cortex and thalamus.

GeneReviews: NBK1229

Related Diseases for Genetic Prion Disease

Diseases related to Genetic Prion Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 17, show less)
# Related Disease Score Top Affiliating Genes
1 creutzfeldt-jakob disease 29.7 PRNP HLA-DQB1
2 prion disease 10.6
3 fatal familial insomnia 10.3
4 scrapie 10.0
5 peripheral nervous system disease 10.0
6 neuropathy 10.0
7 encephalopathy 10.0
8 kuru 9.9
9 ataxia and polyneuropathy, adult-onset 9.9
10 dementia 9.9
11 diarrhea 9.9
12 amyloidosis 9.9
13 allergic encephalomyelitis 9.9
14 autonomic dysfunction 9.9
15 dysautonomia 9.9
16 myoclonus 9.9
17 inherited human prion disease 9.9

Graphical network of the top 20 diseases related to Genetic Prion Disease:



Diseases related to Genetic Prion Disease

Symptoms & Phenotypes for Genetic Prion Disease

Drugs & Therapeutics for Genetic Prion Disease

Search Clinical Trials , NIH Clinical Center for Genetic Prion Disease

Genetic Tests for Genetic Prion Disease

Genetic tests related to Genetic Prion Disease:

# Genetic test Affiliating Genes
1 Genetic Prion Disease 29

Anatomical Context for Genetic Prion Disease

MalaCards organs/tissues related to Genetic Prion Disease:

40
Cortex, Thalamus

Publications for Genetic Prion Disease

Articles related to Genetic Prion Disease:

(showing 97, show less)
# Title Authors PMID Year
1
Clinical Variability in P102L Gerstmann-Sträussler-Scheinker Syndrome. 61 25
31397917 2019
2
Hereditary Human Prion Diseases: an Update. 25 61
27324792 2017
3
Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature. 25 61
27943639 2017
4
Genomic Characteristics of Genetic Creutzfeldt-Jakob Disease Patients with V180I Mutation and Associations with Other Neurodegenerative Disorders. 6
27341347 2016
5
Clinical features of genetic Creutzfeldt-Jakob disease with V180I mutation in the prion protein gene. 6
24838726 2014
6
Rare V180I mutation in PRNP gene of a Chinese patient with Creutzfeldt-Jakob disease. 6
25482600 2014
7
Relationships between clinicopathological features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases. 6
23555862 2013
8
Genotype patterns and characteristics of PRNP in the Korean population. 6
22561193 2012
9
Familial Creutzfeldt-Jakob disease with V180I mutation. 6
20592908 2010
10
An autopsy case of Creutzfeldt-Jakob disease with a V180I mutation of the PrP gene and Alzheimer-type pathology. 6
19703264 2010
11
V180I mutation of the prion protein gene associated with atypical PrPSc glycosylation. 6
17029785 2006
12
Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome. 6
8461023 1993
13
Genetic PrP Prion Diseases. 25
28778873 2018
14
Genetic Creutzfeldt-Jakob disease. 25
29887139 2018
15
Fatal familial insomnia and sporadic fatal insomnia. 25
29887141 2018
16
Doxycycline in early CJD: a double-blinded randomised phase II and observational study. 25
27807198 2017
17
Rapidly Progressive Dementia. 25
27042906 2016
18
Timing, rates and spectra of human germline mutation. 25
26656846 2016
19
Clinical findings and diagnosis in genetic prion diseases in Germany. 25
26076917 2016
20
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
21
Prion mutation D178N with highly variable disease onset and phenotype. 25
19228673 2009
22
Creutzfeldt-Jakob disease with E200K mutation in Slovakia: characterization and development. 25
12197632 2002
23
Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease. 25
10090891 1999
24
High incidence of Creutzfeldt-Jakob disease in rural Calabria, Italy. 25
9872257 1998
25
Prions. 25
9811807 1998
26
New variant Creutzfeldt-Jakob disease: neurological features and diagnostic tests. 25
9314867 1997
27
Complete penetrance of Creutzfeldt-Jakob disease in Libyan Jews carrying the E200K mutation in the prion protein gene. 25
8529127 1995
28
Different post-mortem brain regions from three Chinese FFI patients induce different reactive profiles both in the first and second generation RT-QuIC assays. 61
32573356 2020
29
Genetic prion disease: opportunities for early therapeutic intervention with rigorous pre-symptomatic trials. 61
33089731 2020
30
Autoantibodies against the prion protein in individuals with PRNP mutations. 61
32098855 2020
31
Cerebrospinal fluid and plasma biomarkers in individuals at risk for genetic prion disease. 61
32552681 2020
32
Isolation of infectious, non-fibrillar and oligomeric prions from a genetic prion disease. 61
32303068 2020
33
Towards a treatment for genetic prion disease: trials and biomarkers. 61
32199098 2020
34
Genetic prion disease: no role for the immune system in disease pathogenesis? 61
32057073 2020
35
A case report of genetic prion disease with two different PRNP variants. 61
31953922 2020
36
Genetic prion disease: D178N with 129MV disease modifying polymorphism-a clinical phenotype. 61
33681799 2020
37
Evaluation of Human Cerebrospinal Fluid Malate Dehydrogenase 1 as a Marker in Genetic Prion Disease Patients. 61
31795176 2019
38
Gerstmann-Sträussler-Scheinker syndrome misdiagnosed as conversion disorder. 61
31413052 2019
39
Age at onset in genetic prion disease and the design of preventive clinical trials. 61
31171647 2019
40
Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion Diseases. 61
30062673 2019
41
Mitochondrial dysfunction in preclinical genetic prion disease: A target for preventive treatment? 61
30423473 2019
42
Experimental models to study prion disease pathogenesis and identify potential therapeutic compounds. 61
30878006 2019
43
Two distinct prions in fatal familial insomnia and its sporadic form. 61
32954274 2019
44
Impaired transmissibility of atypical prions from genetic CJDG114V. 61
30109268 2018
45
Autologous neural progenitor cell transplantation into newborn mice modeling for E200K genetic prion disease delays disease progression. 61
29494865 2018
46
Biochemical features of genetic Creutzfeldt-Jakob disease with valine-to-isoleucine substitution at codon 180 on the prion protein gene. 61
29382530 2018
47
Agrypnia excitata and obstructive apnea in a patient with fatal familial insomnia from China: A case report. 61
29245265 2017
48
Continues administration of Nano-PSO significantly increased survival of genetic CJD mice. 61
28847567 2017
49
Genetic human prion disease modelled in PrP transgenic Drosophila. 61
28814578 2017
50
High phenotypic variability in Gerstmann-Sträussler-Scheinker disease. 61
28658400 2017
51
Detection of prion seeding activity in the olfactory mucosa of patients with Fatal Familial Insomnia. 61
28387370 2017
52
Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy. 61
27716661 2017
53
C-Terminal-Deleted Prion Protein Fragment Is a Major Accumulated Component of Systemic PrP Deposits in Hereditary Prion Disease With a 2-Bp (CT) Deletion in PRNP Codon 178. 61
27634965 2016
54
Quantifying prion disease penetrance using large population control cohorts. 61
26791950 2016
55
Creutzfeldt-Jakob disease mortality in Canada, 1998 to 2013. 61
29769950 2015
56
Prion Protein Prolines 102 and 105 and the Surrounding Lysine Cluster Impede Amyloid Formation. 61
26175152 2015
57
Clinical update of Jakob-Creutzfeldt disease. 61
25923128 2015
58
Correction: PrPST, a Soluble, Protease Resistant and Truncated PrP Form Features in the Pathogenesis of a Genetic Prion Disease. 61
26193641 2015
59
Reduced cerebral blood flow in genetic prion disease with PRNP D178N-129M mutation: an arterial spin labeling MRI study. 61
25220284 2015
60
Ascertainment bias causes false signal of anticipation in genetic prion disease. 61
25279981 2014
61
Genetic prion disease: no role for the immune system in disease pathogenesis? 61
24667414 2014
62
Pomegranate seed oil nanoemulsions for the prevention and treatment of neurodegenerative diseases: the case of genetic CJD. 61
24704590 2014
63
Reversible symptoms and clearance of mutant prion protein in an inducible model of a genetic prion disease in Drosophila melanogaster. 61
24686303 2014
64
Presence of voltage-gated potassium channel complex antibody in a case of genetic prion disease. 61
24903967 2014
65
Preimplantation genetic diagnosis (PGD) for genetic prion disorder due to F198S mutation in the PRNP gene. 61
24493558 2014
66
Comparative analysis of gene expression profiles between cortex and thalamus in Chinese fatal familial insomnia patients. 61
23430483 2013
67
Prions in variably protease-sensitive prionopathy: an update. 61
25437202 2013
68
[Review of basic knowledge, surveillance and infectious control of prion disease]. 61
24291944 2013
69
Synaptic dysfunction in prion diseases: a trafficking problem? 61
24369467 2013
70
PrP(ST), a soluble, protease resistant and truncated PrP form features in the pathogenesis of a genetic prion disease. 61
23922744 2013
71
Rapamycin delays disease onset and prevents PrP plaque deposition in a mouse model of Gerstmann-Sträussler-Scheinker disease. 61
22956830 2012
72
Copper is toxic to PrP-ablated mice and exacerbates disease in a mouse model of E200K genetic prion disease. 61
22198568 2012
73
Creutzfeldt-Jakob disease with the M232R mutation in the prion protein gene in two cases showing different disease courses: a clinicopathological study. 61
21983261 2012
74
Genetic prion disease-associated myelodysplasia and SIADH in siblings. 61
22097952 2011
75
Fatal prion disease in a mouse model of genetic E200K Creutzfeldt-Jakob disease. 61
22072968 2011
76
Diffusion-weighted MRI hyperintensity patterns differentiate CJD from other rapid dementias. 61
21471469 2011
77
Genetic prion disease with codon 196 PRNP mutation: clinical and pathological findings. 61
21232818 2011
78
Comprehensive neuropathologic analysis of genetic prion disease associated with the E196K mutation in PRNP reveals phenotypic heterogeneity. 61
21293298 2011
79
Genetic Creutzfeldt-Jakob disease associated with the E200K mutation: characterization of a complex proteinopathy. 61
20593190 2011
80
Genetic Creutzfeldt-Jakob disease and fatal familial insomnia: insights into phenotypic variability and disease pathogenesis. 61
20978903 2011
81
Pathologic evidence that the T188R mutation in PRNP is associated with prion disease. 61
21107135 2010
82
The genetics of prion diseases. 61
20216075 2010
83
Rare E196K mutation in the PRNP gene of a patient exhibiting behavioral abnormalities. 61
20005032 2010
84
A New Transgenic Mouse Model of Gerstmann-Straussler-Scheinker Syndrome Caused by the A117V Mutation of PRNP. 61
19675240 2009
85
Mutant prion protein expression causes motor and memory deficits and abnormal sleep patterns in a transgenic mouse model. 61
19038218 2008
86
A novel PRNP-P105S mutation associated with atypical prion disease and a rare PrPSc conformation. 61
18955686 2008
87
PRNP mutations in a series of apparently sporadic neurodegenerative dementias in China. 61
18425766 2008
88
[Human prion diseases: the Hungarian experience]. 61
18200749 2007
89
[Clinical characteristics and laboratory findings in prion diseases]. 61
17695277 2007
90
Colorado surveillance program for chronic wasting disease transmission to humans: lessons from 2 highly suspicious but negative cases. 61
17353391 2007
91
Genetic prion disease: the EUROCJD experience. 61
16187142 2005
92
Increased incidence of genetic human prion disease in Hungary. 61
16301504 2005
93
Creutzfeldt-Jakob disease in Hungary. 61
16416392 2005
94
Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease. 61
15521976 2004
95
Distinctive cerebellar immunoreactivity for the prion protein in familial (E200K) Creutzfeldt-Jakob disease. 61
12677444 2003
96
Genetic Prion Disease 61
20301407 2003
97
How to improve the clinical diagnosis of Creutzfeldt-Jakob disease. 61
10581227 1999

Variations for Genetic Prion Disease

ClinVar genetic disease variations for Genetic Prion Disease:

6 (showing 56, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRNP NM_000311.5(PRNP):c.538G>A (p.Val180Ile) SNV Pathogenic 13405 rs74315408 GRCh37: 20:4680404-4680404
GRCh38: 20:4699758-4699758
2 PRNP NM_000311.5(PRNP):c.154_177[(6_13)] Microsatellite Pathogenic 13394 rs193922906 GRCh37: 20:4680026-4680049
GRCh38: 20:4699379-4699380
3 PRNP NM_000311.5(PRNP):c.76C>G (p.Pro26Ala) SNV Uncertain significance 899177 GRCh37: 20:4679942-4679942
GRCh38: 20:4699296-4699296
4 PRNP NM_000311.5(PRNP):c.*874C>T SNV Uncertain significance 338666 rs760516358 GRCh37: 20:4681502-4681502
GRCh38: 20:4700856-4700856
5 PRNP NM_000311.5(PRNP):c.143G>A (p.Arg48His) SNV Uncertain significance 895060 GRCh37: 20:4680009-4680009
GRCh38: 20:4699363-4699363
6 PRNP NM_000311.5(PRNP):c.*1134T>A SNV Uncertain significance 895124 GRCh37: 20:4681762-4681762
GRCh38: 20:4701116-4701116
7 PRNP NM_000311.5(PRNP):c.*1328T>C SNV Uncertain significance 895125 GRCh37: 20:4681956-4681956
GRCh38: 20:4701310-4701310
8 PRNP NM_000311.5(PRNP):c.497T>C (p.Met166Thr) SNV Uncertain significance 896503 GRCh37: 20:4680363-4680363
GRCh38: 20:4699717-4699717
9 PRNP NM_000311.5(PRNP):c.565G>A (p.Val189Ile) SNV Uncertain significance 896504 GRCh37: 20:4680431-4680431
GRCh38: 20:4699785-4699785
10 PRNP NM_000311.5(PRNP):c.*1281A>G SNV Uncertain significance 338672 rs540167431 GRCh37: 20:4681909-4681909
GRCh38: 20:4701263-4701263
11 PRNP NM_000311.5(PRNP):c.*1035T>G SNV Uncertain significance 338669 rs886056747 GRCh37: 20:4681663-4681663
GRCh38: 20:4701017-4701017
12 PRNP NM_000311.5(PRNP):c.*460G>T SNV Uncertain significance 898128 GRCh37: 20:4681088-4681088
GRCh38: 20:4700442-4700442
13 PRNP NM_000311.5(PRNP):c.*216G>A SNV Uncertain significance 338658 rs748532463 GRCh37: 20:4680844-4680844
GRCh38: 20:4700198-4700198
14 PRNP NM_000311.5(PRNP):c.*1588C>T SNV Uncertain significance 338675 rs886056750 GRCh37: 20:4682216-4682216
GRCh38: 20:4701570-4701570
15 PRNP NM_000311.5(PRNP):c.-22C>G SNV Uncertain significance 338642 rs886056741 GRCh37: 20:4667147-4667147
GRCh38: 20:4686501-4686501
16 PRNP NM_000311.4(PRNP):c.-211G>A SNV Uncertain significance 338640 rs886056739 GRCh37: 20:4666958-4666958
GRCh38: 20:4686312-4686312
17 PRNP NM_000311.5(PRNP):c.*358C>A SNV Uncertain significance 338659 rs886056744 GRCh37: 20:4680986-4680986
GRCh38: 20:4700340-4700340
18 PRNP NM_000311.5(PRNP):c.-21G>T SNV Uncertain significance 338643 rs886056742 GRCh37: 20:4667148-4667148
GRCh38: 20:4686502-4686502
19 PRNP NM_000311.5(PRNP):c.*994C>T SNV Uncertain significance 338668 rs886056746 GRCh37: 20:4681622-4681622
GRCh38: 20:4700976-4700976
20 PRNP NM_000311.5(PRNP):c.*1193G>A SNV Uncertain significance 338671 rs886056748 GRCh37: 20:4681821-4681821
GRCh38: 20:4701175-4701175
21 PRNP NM_000311.4(PRNP):c.-310T>A SNV Uncertain significance 338638 rs765471807 GRCh37: 20:4666859-4666859
GRCh38: 20:4686213-4686213
22 PRNP NM_000311.5(PRNP):c.*115G>A SNV Uncertain significance 338656 rs746943389 GRCh37: 20:4680743-4680743
GRCh38: 20:4700097-4700097
23 PRNP NM_000311.5(PRNP):c.*1466G>C SNV Uncertain significance 338674 rs886056749 GRCh37: 20:4682094-4682094
GRCh38: 20:4701448-4701448
24 PRNP NM_000311.4(PRNP):c.-206C>G SNV Uncertain significance 338641 rs886056740 GRCh37: 20:4666963-4666963
GRCh38: 20:4686317-4686317
25 PRNP NM_000311.5(PRNP):c.*407T>G SNV Uncertain significance 338660 rs886056745 GRCh37: 20:4681035-4681035
GRCh38: 20:4700389-4700389
26 PRNP NM_000311.5(PRNP):c.160G>A (p.Gly54Ser) SNV Likely benign 338646 rs763524380 GRCh37: 20:4680026-4680026
GRCh38: 20:4699380-4699380
27 PRNP NM_000311.5(PRNP):c.424G>A (p.Gly142Ser) SNV Likely benign 338652 rs150351644 GRCh37: 20:4680290-4680290
GRCh38: 20:4699644-4699644
28 PRNP NM_000311.5(PRNP):c.*98_*100TCT[1] Microsatellite Likely benign 338655 rs570683075 GRCh37: 20:4680725-4680727
GRCh38: 20:4700079-4700081
29 PRNP NM_000311.5(PRNP):c.5C>T (p.Ala2Val) SNV Likely benign 899176 GRCh37: 20:4679871-4679871
GRCh38: 20:4699225-4699225
30 PRNP NM_000311.5(PRNP):c.654C>T (p.Tyr218=) SNV Likely benign 896505 GRCh37: 20:4680520-4680520
GRCh38: 20:4699874-4699874
31 PRNP NM_000311.5(PRNP):c.252T>C (p.Pro84=) SNV Benign 338649 rs62637686 GRCh37: 20:4680118-4680118
GRCh38: 20:4699472-4699472
32 PRNP NM_000311.5(PRNP):c.116C>T (p.Pro39Leu) SNV Benign 899178 GRCh37: 20:4679982-4679982
GRCh38: 20:4699336-4699336
33 PRNP NM_000311.5(PRNP):c.*482A>G SNV Benign 899237 GRCh37: 20:4681110-4681110
GRCh38: 20:4700464-4700464
34 PRNP NM_000311.5(PRNP):c.512A>G (p.Asn171Ser) SNV Benign 13408 rs16990018 GRCh37: 20:4680378-4680378
GRCh38: 20:4699732-4699732
35 PRNP NM_000311.5(PRNP):c.655G>A (p.Glu219Lys) SNV Benign 13409 rs1800014 GRCh37: 20:4680521-4680521
GRCh38: 20:4699875-4699875
36 PRNP NM_000311.5(PRNP):c.385A>G (p.Met129Val) SNV Benign 13397 rs1799990 GRCh37: 20:4680251-4680251
GRCh38: 20:4699605-4699605
37 PRNP NM_000311.5(PRNP):c.*697A>G SNV Benign 338664 rs73896126 GRCh37: 20:4681325-4681325
GRCh38: 20:4700679-4700679
38 PRNP NM_000311.5(PRNP):c.*936C>T SNV Benign 338667 rs76116805 GRCh37: 20:4681564-4681564
GRCh38: 20:4700918-4700918
39 PRNP NM_000311.5(PRNP):c.228C>T (p.Pro76=) SNV Benign 218578 rs112637437 GRCh37: 20:4680094-4680094
GRCh38: 20:4699448-4699448
40 PRNP NM_000311.5(PRNP):c.*592T>C SNV Benign 338661 rs138751953 GRCh37: 20:4681220-4681220
GRCh38: 20:4700574-4700574
41 PRNP NM_000311.5(PRNP):c.351A>G (p.Ala117=) SNV Benign 338650 rs8124214 GRCh37: 20:4680217-4680217
GRCh38: 20:4699571-4699571
42 PRNP NM_000311.5(PRNP):c.159C>T (p.Gly53=) SNV Benign 338645 rs776188950 GRCh37: 20:4680025-4680025
GRCh38: 20:4699379-4699379
43 PRNP NM_000311.5(PRNP):c.*1412T>A SNV Benign 338673 rs150850205 GRCh37: 20:4682040-4682040
GRCh38: 20:4701394-4701394
44 PRNP NM_000311.5(PRNP):c.*4A>T SNV Benign 338653 rs11087654 GRCh37: 20:4680632-4680632
GRCh38: 20:4699986-4699986
45 PRNP NM_000311.5(PRNP):c.*1063G>A SNV Benign 338670 rs58499385 GRCh37: 20:4681691-4681691
GRCh38: 20:4701045-4701045
46 PRNP NM_000311.5(PRNP):c.*672C>G SNV Benign 338662 rs183570240 GRCh37: 20:4681300-4681300
GRCh38: 20:4700654-4700654
47 PRNP NM_000311.3(PRNP):c.204_227del24 (p.Pro84_Gln91del) Microsatellite Benign 65494 rs193922906 GRCh37: 20:4680026-4680049
GRCh38: 20:4699380-4699403
48 PRNP NM_000311.4(PRNP):c.-245C>G SNV Benign 338639 rs13040327 GRCh37: 20:4666924-4666924
GRCh38: 20:4686278-4686278
49 PRNP NM_000311.5(PRNP):c.*70G>A SNV Benign 338654 rs116970629 GRCh37: 20:4680698-4680698
GRCh38: 20:4700052-4700052
50 PRNP NM_000311.5(PRNP):c.*682A>G SNV Benign 338663 rs7274758 GRCh37: 20:4681310-4681310
GRCh38: 20:4700664-4700664
51 PRNP NM_000311.5(PRNP):c.204T>C (p.Pro68=) SNV Benign 338647 rs532493114 GRCh37: 20:4680070-4680070
GRCh38: 20:4699424-4699424
52 PRNP NM_000311.5(PRNP):c.-18C>T SNV Benign 338644 rs537449340 GRCh37: 20:4667151-4667151
GRCh38: 20:4686505-4686505
53 PRNP NM_000311.5(PRNP):c.*206A>G SNV Benign 338657 rs41279420 GRCh37: 20:4680834-4680834
GRCh38: 20:4700188-4700188
54 PRNP NM_000311.5(PRNP):c.372C>G (p.Gly124=) SNV Benign 338651 rs201423990 GRCh37: 20:4680238-4680238
GRCh38: 20:4699592-4699592
55 PRNP NM_000311.5(PRNP):c.*800C>T SNV Benign 338665 rs111321071 GRCh37: 20:4681428-4681428
GRCh38: 20:4700782-4700782
56 PRNP NM_000311.5(PRNP):c.246A>G (p.Gly82=) SNV Benign 338648 rs62643364 GRCh37: 20:4680112-4680112
GRCh38: 20:4699466-4699466

Expression for Genetic Prion Disease

Search GEO for disease gene expression data for Genetic Prion Disease.

Pathways for Genetic Prion Disease

GO Terms for Genetic Prion Disease

Sources for Genetic Prion Disease

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7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
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69 Tocris
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71 UMLS via Orphanet
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