IBMPFD2
MCID: INC015
MIFTS: 37

Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 (IBMPFD2)

Categories: Bone diseases, Genetic diseases, Mental diseases

Aliases & Classifications for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

MalaCards integrated aliases for Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2:

Name: Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 56 73 29 6 71
Multisystem Proteinopathy 2 56 73
Ibmpfd2 56 73
Msp2 56 73
Myopathy, Inclusion Body, with Early-Onset Paget Disease with or Without Frontotemporal Dementia, Type 2 39
Multisystem Proteinopathy 2; Msp2 56

Classifications:



External Ids:

OMIM 56 615422
OMIM Phenotypic Series 56 PS167320
UMLS 71 C3809468

Summaries for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

UniProtKB/Swiss-Prot : 73 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2: An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance.

MalaCards based summary : Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2, also known as multisystem proteinopathy 2, is related to inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 and human granulocytic anaplasmosis. An important gene associated with Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 is HNRNPA2B1 (Heterogeneous Nuclear Ribonucleoprotein A2/B1). The drugs Lumefantrine and Artemether have been mentioned in the context of this disorder. Affiliated tissues include bone, skeletal muscle and t cells, and related phenotypes are behavioral abnormality and myopathy

More information from OMIM: 615422 PS167320

Related Diseases for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

Diseases in the Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 family:

Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3

Diseases related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 11.3
2 human granulocytic anaplasmosis 10.6
3 malaria 10.4
4 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 10.4
5 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 3 10.4
6 plasmodium falciparum malaria 10.4
7 ehrlichiosis 10.3
8 ocular motor apraxia 10.1
9 thalassemia 10.1
10 severe combined immunodeficiency 10.1

Graphical network of the top 20 diseases related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2:



Diseases related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2

Symptoms & Phenotypes for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

Human phenotypes related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 behavioral abnormality 31 HP:0000708
2 myopathy 31 HP:0003198
3 elevated serum creatine kinase 31 HP:0003236
4 skeletal muscle atrophy 31 HP:0003202
5 myositis 31 HP:0100614
6 abnormality of the skeletal system 31 HP:0000924
7 muscular dystrophy 31 HP:0003560
8 centrally nucleated skeletal muscle fibers 31 HP:0003687
9 muscle fiber atrophy 31 HP:0100295
10 frontotemporal dementia 31 HP:0002145

Clinical features from OMIM:

615422

Drugs & Therapeutics for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

Drugs for Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lumefantrine Approved Phase 4 82186-77-4 6437380
2
Artemether Approved Phase 4 71963-77-4 68911 9796294 119380
3
Amodiaquine Approved, Investigational Phase 4 86-42-0 2165
4
Artesunate Approved, Investigational Phase 4 88495-63-0 6917864 5464098
5
Primaquine Approved Phase 4 90-34-6 4908
6
Dihydroartemisinin Experimental, Investigational Phase 4 71939-50-9 6918483
7
Piperaquine Experimental, Investigational Phase 4 4085-31-8 5079497
8 Artemisinins Phase 4
9 Artemisinine Phase 4
10 Antiparasitic Agents Phase 4
11 Antiprotozoal Agents Phase 4
12 Artemether, Lumefantrine Drug Combination Phase 4
13 Anti-Infective Agents Phase 4
14 Antimalarials Phase 4
15 Anthelmintics Phase 4
16 Antiviral Agents Phase 4
17
Lactitol Approved, Investigational Phase 3 585-88-6, 585-86-4 493591
18
leucovorin Approved Phase 2, Phase 3 58-05-9 6006 143
19
Sulfadoxine Approved, Investigational Phase 2, Phase 3 2447-57-6 17134
20
Pyrimethamine Approved, Investigational, Vet_approved Phase 2, Phase 3 58-14-0 4993
21
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
22 Folic Acid Antagonists Phase 2, Phase 3
23 Vitamin B Complex Phase 2, Phase 3
24 Folate Phase 2, Phase 3
25 Vitamin B9 Phase 2, Phase 3
26
chloroquine Approved, Investigational, Vet_approved 54-05-7 2719
27 Fanasil, pyrimethamine drug combination
28 Amebicides
29 Chloroquine diphosphate 50-63-5
30 Antirheumatic Agents
31 Amodiaquine, artesunate drug combination

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Efficacy of Artesunate Monotherapy and Dihydroartemisinin - Piperaquine in Patients With Uncomplicated Falciparum Malaria in Central Vietnam Unknown status NCT02604966 Phase 4 Artesunate (AS) group;DHA - PPQ group
2 A Multicentre Randomised Comparative Clinical Trial of the Efficacy of Artesunate + Amodiaquine Versus Artemether-lumefantrine (Coartem®) for the Treatment of Uncomplicated Childhood Plasmodium Falciparum Malaria in Zanzibar Completed NCT03768908 Phase 4 Artemether-lumefantrine;Artesunate + Amodiaquine
3 Efficacy and Safety of Artesunate + Amodiaquine Combined With a Single Low Dose of Primaquine (0.25 mg/kg) for the Treatment of Uncomplicated Plasmodium Falciparum Malaria in Zanzibar Completed NCT03773536 Phase 4 Artesunate-amodiaquine given with single low dose primaquine
4 Evaluation of the Efficacy of Artemisinin Combination Therapy in Kenya Unknown status NCT01899820 Phase 3 Artemether lumefantrine;Dihydroartemisinin piperaquine
5 An Open-label Randomized Controlled Trial to Evaluate the Effectiveness and Safety of a 3 Day Versus 5 Day Course of Artemether-lumefantrine for the Treatment of Uncomplicated Falciparum Malaria in Myanmar Completed NCT02020330 Phase 3 Artemether-lumefantrine 3 days;Artemether-lumefantrine 5 days
6 Anti-malarial Drug Resistance in Cameroon: Therapeutic Efficacy and Biological Markers of Resistance Completed NCT00146718 Phase 2, Phase 3 Amodiaquine and Sulphadoxine/Pyrimethamine
7 Phase III Clinical Trials of Artemisinin-based Combination Therapy in Cameroon Completed NCT00297882 Phase 3 Artemether-Lumefantrine , Amodiaquine-Artesunate
8 Efficacy and Safety of Artesunate+Sulphadoxine-Pyrimethamine for the Treatment of Uncomplicated Plasmodium Falciparum Malaria in Malaria Control Center Asadabad in Kunar Province of Afghanistan Unknown status NCT01707199 Artesunate + Sulphadoxine-pyrimethamine
9 A Study of the Impact of Insecticide-treated Curtains on the Prevalence of Antimalarial Drug Resistance in Children With Uncomplicated Malaria in Burkina Faso Completed NCT00169078 Chloroquine
10 Efficacy of Amodiaquine-Artesunate and Artemether-Lumefantrine for the Treatment of Uncomplicated Childhood Plasmodium Falciparum Malaria in Pweto, Democratic Republic of Congo, 2008 Completed NCT01567423 ASAQ Winthrop® Sanofi Aventis;Coartem®, Novartis
11 Efficacy and Safety of Artemether-lumefantrine for the Treatment of Uncomplicated Plasmodium Falciparum Malaria and Chloroquine for the Treatment of Plasmodium Vivax in the Philippines Completed NCT04222088 Arthemeter-lumefantrine;Chloroquine

Search NIH Clinical Center for Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2

Genetic Tests for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

Genetic tests related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2:

# Genetic test Affiliating Genes
1 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 29 HNRNPA2B1

Anatomical Context for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

MalaCards organs/tissues related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2:

40
Bone, Skeletal Muscle, T Cells, Testes, Placenta, Myeloid, B Cells

Publications for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

Articles related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2:

(show top 50) (show all 484)
# Title Authors PMID Year
1
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. 6 56
23455423 2013
2
Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy. 56 6
11891683 2002
3
No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy. 56
24612671 2014
4
hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes. 56
24119545 2014
5
Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia 6
20301649 2007
6
Serological and molecular detection of Anaplasma phagocytophilum in Thoroughbred horses from Chilean racecourses. 61
32305236 2020
7
An outbreak of bovine babesiosis in February, 2019, triggered by above average winter temperatures in southern England and co-infection with Babesia divergens and Anaplasma phagocytophilum. 61
32532309 2020
8
Efficacy and safety of artemisinin-based combination therapy and the implications of Pfkelch13 and Pfcoronin molecular markers in treatment failure in Senegal. 61
32483161 2020
9
Optimization and evaluation of a multiplex quantitative PCR assay for detection of nucleic acids in human blood from patients with spotted fever rickettsiosis, typhus rickettsiosis, scrub typhus, monocytic ehrlichiosis, and granulocytic anaplasmosis. 61
32493778 2020
10
Measuring antibody avidity to Plasmodium falciparum merozoite antigens using a multiplex immunoassay approach. 61
32357882 2020
11
Molecular detection and genetic diversity of Anaplasma marginale based on the major surface protein genes in Thailand. 61
31953063 2020
12
Transovarial transmission of Borrelia spp., Rickettsia spp. and Anaplasma phagocytophilum in Ixodes ricinus under field conditions extrapolated from DNA detection in questing larvae. 61
32264920 2020
13
Development of a Sensitive and Rapid Recombinase Polymerase Amplification Assay for Detection of Anaplasma phagocytophilum. 61
32132189 2020
14
Prolonged Heat Stress of Lactobacillus paracasei GCRL163 Improves Binding to Human Colorectal Adenocarcinoma HT-29 Cells and Modulates the Relative Abundance of Secreted and Cell Surface-Located Proteins. 61
32108472 2020
15
Molecular detection and phylogenetic analysis of canine tick-borne pathogens from Korea. 61
31839473 2020
16
Prevalence and molecular characterization of Anaplasma phagocytophilum in roe deer (Capreolus capreolus) from Spain. 61
31822398 2020
17
Variation of prevalence of malaria, parasite density and the multiplicity of Plasmodium falciparum infection throughout the year at three different health centers in Brazzaville, Republic of Congo. 61
32131754 2020
18
Genetic diversity of Plasmodium falciparum and genetic profile in children affected by uncomplicated malaria in Cameroon. 61
32188442 2020
19
Impact of an Irrigation Dam on the Transmission and Diversity of Plasmodium falciparum in a Seasonal Malaria Transmission Area of Northern Ghana. 61
32308690 2020
20
Study of the cwaRS-ldcA Operon Coding a Two-Component System and a Putative L,D-Carboxypeptidase in Lactobacillus paracasei. 61
32194510 2020
21
Monitoring of efficacy, tolerability and safety of artemether-lumefantrine and artesunate-amodiaquine for the treatment of uncomplicated Plasmodium falciparum malaria in Lambaréné, Gabon: an open-label clinical trial. 61
31842893 2019
22
Presence of Roe Deer Affects the Occurrence of Anaplasma phagocytophilum Ecotypes in Questing Ixodes ricinus in Different Habitat Types of Central Europe. 61
31783486 2019
23
Development of nematode resistance in Arabidopsis by HD-RNAi-mediated silencing of the effector gene Mi-msp2. 61
31757987 2019
24
Genetic polymorphism of merozoite surface proteins 1 and 2 of Plasmodium falciparum in the China-Myanmar border region. 61
31744492 2019
25
Insight of diagnostic performance using B-cell epitope antigens derived from triple P44-related proteins of Anaplasma phagocytophilum. 61
31182246 2019
26
Characterization of Glycoproteins of Native 19kDa C-Terminal Merozoite Surface Protein-1 from Native Antigen of Plasmodium falciparum. 61
31879671 2019
27
Human granulocytic anaplasmosis in Kinmen, an offshore island of Taiwan. 61
31539395 2019
28
Genetic polymorphism of Merozoite Surface Protein 1 (msp1) and 2 (msp2) genes and multiplicity of Plasmodium falciparum infection across various endemic areas in Senegal. 61
32127816 2019
29
Immunogenicity of a recombinant fusion construct composed of intrinsically unstructured, low polymorphic segments derived from merozoite surface protein 2 and trophozoite exported protein 1. 61
31358409 2019
30
A suite of kinetically superior AEP ligases can cyclise an intrinsically disordered protein. 61
31346249 2019
31
High-Complexity Plasmodium falciparum Infections, North Central Nigeria, 2015-2018. 61
31211682 2019
32
Novel variants of the newly emerged Anaplasma capra from Korean water deer (Hydropotes inermis argyropus) in South Korea. 61
31345253 2019
33
Severe oxidative stress in sickle cell disease patients with uncomplicated Plasmodium falciparum malaria in Kampala, Uganda. 61
31288760 2019
34
Plasmodium falciparum merozoite surface antigen-specific cytophilic IgG and control of malaria infection in a Beninese birth cohort. 61
31185998 2019
35
The Diversity, Multiplicity of Infection and Population Structure of P. falciparum Parasites Circulating in Asymptomatic Carriers Living in High and Low Malaria Transmission Settings of Ghana. 61
31181699 2019
36
Immunization with merozoite surface protein 2 fused to a Plasmodium-specific carrier protein elicits strain-specific and strain-transcending, opsonizing antibody. 61
31227760 2019
37
Sub-microscopic Plasmodium falciparum infections in matched peripheral, placental and umbilical cord blood samples from asymptomatic Congolese women at delivery. 61
30836060 2019
38
Molecular Detection and Characterization of p44/msp2 Multigene Family of Anaplasma phagocytophilum from Haemaphysalis longicornis in Mie Prefecture, Japan. 61
30700658 2019
39
Analysis of antibody responses to selected Plasmodium falciparum merozoite surface antigens in mild and cerebral malaria and associations with clinical outcomes. 61
30580455 2019
40
Diversity of Anaplasma species in cattle in Mozambique. 61
30833198 2019
41
Bartonella and Rickettsia Infections in Haematophagous Spinturnix myoti Mites (Acari: Mesostigmata) and their Bat Host, Myotis myotis (Yangochiroptera: Vespertilionidae), from Poland. 61
30151669 2019
42
Predominant Shift of Different P44-Expressing Anaplasma phagocytophilum in Infected HL-60, THP-1, NB4, and RF/6A Cell Lines. 61
30381676 2019
43
Comparison of msp genotyping and a 24 SNP molecular assay for differentiating Plasmodium falciparum recrudescence from reinfection. 61
30885193 2019
44
An Acid Up-Regulated Surface Protein of Lactobacillus paracasei Strain GCRL 46 is Phylogenetically Related to the Secreted Glucan- (GpbB) and Immunoglobulin-Binding (SibA) Protein of Pathogenic Streptococci. 61
30935131 2019
45
Longitudinal tracking and quantification of individual Plasmodium falciparum clones in complex infections. 61
30833657 2019
46
Molecular detection, characterization of Anaplasma spp. in domestic cats from Rio de Janeiro state. 61
30615856 2019
47
Segmental Variation in a Duplicated msp2 Pseudogene Generates Anaplasma marginale Antigenic Variants. 61
30455197 2019
48
Interaction of merozoite surface protein 2 with lipid membranes. 61
30588612 2019
49
Genetically diverse Plasmodium falciparum infections, within-host competition and symptomatic malaria in humans. 61
30644435 2019
50
Modulation of the aggregation of an amyloidogenic sequence by flanking-disordered region in the intrinsically disordered antigen merozoite surface protein 2. 61
30443712 2019

Variations for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

ClinVar genetic disease variations for Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2:

6 (show all 27) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.905A>T (p.Asp302Val)SNV Pathogenic 65454 rs397515326 7:26232966-26232966 7:26193346-26193346
2 HNRNPA2B1 NC_000007.14:g.(?_26200562)_(26200587_?)dupduplication Uncertain significance 830531 7:26240182-26240207
3 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.1000+5T>GSNV Uncertain significance 858196 7:26232866-26232866 7:26193246-26193246
4 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.1020_1028del (p.341_343SGG[1])deletion Uncertain significance 541427 rs754021381 7:26232170-26232178 7:26192550-26192558
5 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.705C>T (p.Gly235=)SNV Uncertain significance 541426 rs767263210 7:26235519-26235519 7:26195899-26195899
6 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.833A>G (p.Asn278Ser)SNV Uncertain significance 474504 rs1554331125 7:26233239-26233239 7:26193619-26193619
7 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.695-4A>GSNV Uncertain significance 571200 rs1562711082 7:26235533-26235533 7:26195913-26195913
8 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.693T>C (p.Ser231=)SNV Uncertain significance 662036 7:26236022-26236022 7:26196402-26196402
9 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.614-10T>CSNV Uncertain significance 646482 7:26236111-26236111 7:26196491-26196491
10 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.512-3C>TSNV Uncertain significance 659107 7:26236281-26236281 7:26196661-26196661
11 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.1020C>A (p.Gly340=)SNV Likely benign 705959 7:26232178-26232178 7:26192558-26192558
12 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.792A>C (p.Gly264=)SNV Likely benign 704090 7:26233280-26233280 7:26193660-26193660
13 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.646G>A (p.Gly216Ser)SNV Likely benign 704292 7:26236069-26236069 7:26196449-26196449
14 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.69C>G (p.Leu23=)SNV Likely benign 474501 rs774999756 7:26237326-26237326 7:26197706-26197706
15 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.780C>T (p.Pro260=)SNV Likely benign 474503 rs141885504 7:26233292-26233292 7:26193672-26193672
16 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.351C>T (p.Gly117=)SNV Likely benign 474500 rs766409233 7:26236587-26236587 7:26196967-26196967
17 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.669A>G (p.Pro223=)SNV Likely benign 541428 rs752086550 7:26236046-26236046 7:26196426-26196426
18 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.366T>C (p.Asp122=)SNV Likely benign 772754 7:26236572-26236572 7:26196952-26196952
19 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.7-9T>CSNV Likely benign 733173 7:26237495-26237495 7:26197875-26197875
20 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.183A>G (p.Ser61=)SNV Likely benign 763430 7:26237052-26237052 7:26197432-26197432
21 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.681T>C (p.Phe227=)SNV Benign 261955 rs117082250 7:26236034-26236034 7:26196414-26196414
22 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.555A>G (p.Arg185=)SNV Benign 261954 rs34317198 7:26236235-26236235 7:26196615-26196615
23 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.153+4T>CSNV Benign 261953 rs41275982 7:26237238-26237238 7:26197618-26197618
24 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.324T>C (p.His108=)SNV Benign 541430 rs142061533 7:26236614-26236614 7:26196994-26196994
25 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.877+6A>GSNV Benign 541429 rs144309126 7:26233189-26233189 7:26193569-26193569
26 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.279A>G (p.Pro93=)SNV Benign 704997 7:26236956-26236956 7:26197336-26197336
27 HNRNPA2B1 NM_031243.3(HNRNPA2B1):c.695-7C>GSNV Benign 703967 7:26235536-26235536 7:26195916-26195916

UniProtKB/Swiss-Prot genetic disease variations for Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2:

73
# Symbol AA change Variation ID SNP ID
1 HNRNPA2B1 p.Asp302Val VAR_070591 rs397515326

Expression for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

Search GEO for disease gene expression data for Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2.

Pathways for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

GO Terms for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

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