MCID: DYS030
MIFTS: 33

Dysferlinopathy

Categories: Muscle diseases, Rare diseases

Aliases & Classifications for Dysferlinopathy

MalaCards integrated aliases for Dysferlinopathy:

Name: Dysferlinopathy 25 54 30 6 74

Classifications:



External Ids:

UMLS 74 C2931687

Summaries for Dysferlinopathy

NIH Rare Diseases : 54 Dysferlinopathies are a group of muscle diseases that have a slow progression of muscle weakness and atrophy (wasting).  The diseases in the group are: Miyoshi myopathy, where there is weakness and atrophy (wasting)of the muscles of the legs that are closer to  the feet (distal myopathy) Limb-girdle muscular dystrophy type 2B (LGMD2B), where there is  weakness and atrophy of the muscles of the pelvic and shoulder Scapuloperoneal syndrome, where weakness and atrophy affect both the distal legs and shoulder girdle muscles Distal myopathy with anterior tibial onset, where there is weakness of the front part of the leg and foot drop A form of congenital muscular dystrophy that was referred in a few people, and A condition where there are not symptoms but only an elevated level of the muscular enzyme CK in the blood tests.  All dysferlinopathies are caused by pathogenic variations (mutations) in the  DYSF gene which result in a deficiency of the  protein dysferlin (hence, the name),  important for the efficient repair of muscle fibers. Inheritance is autosomal recessive. There is no cure or specific treatment. Management depend on the symptoms and is aimed to improve the quality of life and the life expectation. Research to find an effective treatment is ongoing.  

MalaCards based summary : Dysferlinopathy is related to muscular dystrophy, limb-girdle, autosomal recessive 2 and muscular dystrophy. An important gene associated with Dysferlinopathy is DYSF (Dysferlin), and among its related pathways/superpathways is Aquaporin-mediated transport. The drugs Deflazacort and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include testes, skeletal muscle and monocytes, and related phenotype is muscle.

Wikipedia : 77 Limb-girdle muscular dystrophy (LGMD) or Erb''s muscular dystrophy is a genetically and clinically... more...

GeneReviews: NBK1303

Related Diseases for Dysferlinopathy

Diseases related to Dysferlinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 2 30.4 CAPN3 DYSF TOR1AIP1
2 muscular dystrophy 30.1 CAPN3 DYSF MYOF TOR1AIP1
3 miyoshi muscular dystrophy 1 11.5
4 autosomal recessive limb-girdle muscular dystrophy 10.3 CAPN3 DYSF
5 autosomal recessive limb-girdle muscular dystrophy type 2f 10.3 CAPN3 DYSF
6 autosomal recessive limb-girdle muscular dystrophy type 2g 10.3 CAPN3 DYSF
7 autosomal recessive limb-girdle muscular dystrophy type 2d 10.3 CAPN3 DYSF
8 autosomal recessive limb-girdle muscular dystrophy type 2c 10.3 CAPN3 DYSF
9 autosomal recessive limb-girdle muscular dystrophy type 2a 10.3 CAPN3 DYSF
10 limb-girdle muscular dystrophy 10.3
11 muscular dystrophy, limb-girdle, autosomal recessive 8 10.3 CAPN3 DYSF
12 muscular dystrophy, limb-girdle, autosomal recessive 7 10.3 CAPN3 DYSF
13 muscular dystrophy-dystroglycanopathy , type c, 5 10.2 CAPN3 DYSF
14 myopathy 10.2
15 muscular dystrophy, limb-girdle, autosomal recessive 6 10.2 CAPN3 DYSF
16 polymyositis 10.1
17 hydrops, lactic acidosis, and sideroblastic anemia 10.1 AQP4 MIP
18 deafness, autosomal recessive 9 10.1 MYOF OTOF
19 central pontine myelinolysis 10.1 AQP1 AQP4
20 bethlem myopathy 1 10.1 CAPN3 DYSF
21 subependymoma 10.0 AQP1 AQP4
22 autosomal recessive limb-girdle muscular dystrophy type 2b 10.0 CAPN3 DYSF MYOF
23 miyoshi muscular dystrophy 10.0 CAPN3 DYSF MYOF
24 hydrarthrosis 10.0 AQP1 MIP
25 muscular dystrophy, limb-girdle, autosomal recessive 1 10.0
26 rigid spine muscular dystrophy 1 10.0
27 pulmonary disease, chronic obstructive 10.0
28 muscle hypertrophy 10.0
29 ichthyosis lamellar 1 10.0
30 autosomal recessive congenital ichthyosis 10.0
31 ichthyosis 10.0
32 dystrophinopathies 10.0
33 cytokine deficiency 10.0
34 idiopathic inflammatory myopathy 10.0
35 neuromyelitis optica 9.9 AQP1 AQP4
36 muscle tissue disease 9.9 CAPN3 DYSF
37 muscular disease 9.9 CAPN3 DYSF MYOF
38 intracranial hypertension 9.9 AQP1 AQP4
39 meniere disease 9.9 AQP1 AQP4 MIP
40 diabetes insipidus, nephrogenic, autosomal 9.9 AQP1 AQP4 MIP
41 brain edema 9.9 AQP1 AQP4 MIP

Graphical network of the top 20 diseases related to Dysferlinopathy:



Diseases related to Dysferlinopathy

Symptoms & Phenotypes for Dysferlinopathy

MGI Mouse Phenotypes related to Dysferlinopathy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 CAPN3 DYSF MYOF RELA THBS1

Drugs & Therapeutics for Dysferlinopathy

Drugs for Dysferlinopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deflazacort Approved, Investigational Phase 2, Phase 3 14484-47-0
2 Immunologic Factors Phase 2, Phase 3
3 Anti-Inflammatory Agents Phase 2, Phase 3
4 Immunosuppressive Agents Phase 2, Phase 3
5
Bortezomib Approved, Investigational Phase 1 179324-69-7 387447 93860
6 Vaccines Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Deflazacort in Dysferlinopathies Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
2 Gene Transfer Clinical Trial for LGMD2E (Beta-sarcoglycan Deficiency) Using scAAVrh74.MHCK7.hSGCB Recruiting NCT03652259 Phase 1, Phase 2 scAAVrh74.MHCK7.hSGCB
3 rAAVrh74.MHCK7.DYSF.DV for Treatment of Dysferlinopathies Active, not recruiting NCT02710500 Phase 1 rAAVrh74.MHCK7.DYSF.DV
4 Proteasomal Inhibition for Patients With Mis-sense Mutated Dysferlin Terminated NCT01863004 Phase 1 Bortezomib
5 Clinical Outcome Study for Dysferlinopathy Unknown status NCT01676077

Search NIH Clinical Center for Dysferlinopathy

Genetic Tests for Dysferlinopathy

Genetic tests related to Dysferlinopathy:

# Genetic test Affiliating Genes
1 Dysferlinopathy 30

Anatomical Context for Dysferlinopathy

MalaCards organs/tissues related to Dysferlinopathy:

42
Testes, Skeletal Muscle, Monocytes, Liver, Brain

Publications for Dysferlinopathy

Articles related to Dysferlinopathy:

(show top 50) (show all 98)
# Title Authors Year
1
Assessment of disease progression in dysferlinopathy: A 1-year cohort study. ( 30626655 )
2019
2
Effects of Prednisone on a Patient with Dysferlinopathy Assessed by Maximal Voluntary Isometric Contraction: Alternate-Day Low-Dose Administration for a 17-Year Period. ( 31043956 )
2019
3
Systemic Delivery of Dysferlin Overlap Vectors Provides Long-Term Gene Expression and Functional Improvement for Dysferlinopathy. ( 28707952 )
2018
4
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study. ( 29378789 )
2018
5
Serum exosomes can restore cellular function in vitro and be used for diagnosis in dysferlinopathy. ( 29507617 )
2018
6
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials. ( 29735511 )
2018
7
Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy. ( 30439648 )
2018
8
Disease duration and disability in dysfelinopathy can be described by muscle imaging using heatmaps and random forests. ( 30578674 )
2018
9
Gene co-expression network analysis of dysferlinopathy: Altered cellular processes and functional prediction of TOR1AIP1, a novel muscular dystrophy gene. ( 28110863 )
2017
10
Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan. ( 28337173 )
2017
11
Dysferlinopathy Promotes an Intramuscle Expansion of Macrophages with a Cyto-Destructive Phenotype. ( 28412297 )
2017
12
Corrigendum: Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan. ( 28428771 )
2017
13
A unique case of dysferlinopathy with a large-segment duplication mutation who experienced rapid deterioration after small-dosage corticosteroid treatment. ( 28431623 )
2017
14
Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy. ( 28487742 )
2017
15
Limb-Girdle Muscular Dystrophy 2B and Miyoshi Presentations of Dysferlinopathy. ( 28502335 )
2017
16
Structure-Based Designed Nano-Dysferlin Significantly Improves Dysferlinopathy in BLA/J Mice. ( 28629822 )
2017
17
Detection of Dysferlin Gene Pathogenic Variants in the Indian Population in Patients Predicted to have a Dysferlinopathy Using a Blood-based Monocyte Assay and Clinical Algorithm: A Model for Accurate and Cost-effective Diagnosis. ( 28904466 )
2017
18
Thrombospondin-1 and disease progression in dysferlinopathy. ( 29206970 )
2017
19
Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy. ( 26620441 )
2016
20
Toward an objective measure of functional disability in dysferlinopathy. ( 25900324 )
2016
21
Dysferlinopathy: mitochondrial abnormalities in human skeletal muscle. ( 26000923 )
2016
22
Respiratory and cardiac function in japanese patients with dysferlinopathy. ( 26088049 )
2016
23
Late onset dysferlinopathy mimicking treatment resistant polymyositis. ( 26471412 )
2016
24
Broadening the imaging phenotype of dysferlinopathy at different disease stages. ( 26800485 )
2016
25
Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C). ( 27195159 )
2016
26
Heterogeneous characteristics of MRI changes of thigh muscles in patients with dysferlinopathy. ( 27251469 )
2016
27
Progress and challenges in diagnosis of dysferlinopathy. ( 27501525 )
2016
28
The Clinical Outcome Study for dysferlinopathy: An international multicenter study. ( 27602406 )
2016
29
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy. ( 27647186 )
2016
30
AAV.Dysferlin Overlap Vectors Restore Function in Dysferlinopathy Animal Models. ( 25815352 )
2015
31
Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy. ( 25868377 )
2015
32
CD4+ cells, macrophages, MHC-I and C5b-9 involve the pathogenesis of dysferlinopathy. ( 26045819 )
2015
33
Muscle hypertrophy induced by myostatin inhibition accelerates degeneration in dysferlinopathy. ( 26206886 )
2015
34
Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects. ( 26444858 )
2015
35
Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair. ( 26579332 )
2015
36
Dysferlinopathy in Iran: Clinical and genetic report. ( 26671124 )
2015
37
Genome-wide expression analysis comparing hypertrophic changes in normal and dysferlinopathy mice. ( 26697388 )
2015
38
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing. ( 27066573 )
2015
39
LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing. ( 27066575 )
2015
40
Late-onset dysferlinopathy presented as "liver enzyme" abnormalities: a technical note. ( 25036559 )
2014
41
Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients. ( 25046369 )
2014
42
Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy. ( 25591676 )
2014
43
Muscle atrophy, ubiquitin-proteasome, and autophagic pathways in dysferlinopathy. ( 24395438 )
2014
44
Improved immunoblotting methods provide critical insights into phenotypic differences between two murine dysferlinopathy models. ( 24639380 )
2014
45
Involvement of oxidative stress, nuclear factor kappa B and the ubiquitin proteasomal pathway in dysferlinopathy. ( 24846833 )
2014
46
Dysferlinopathy presenting as rhabdomyolysis and acute renal failure. ( 22550092 )
2013
47
DYSF mutation analysis in a group of Chinese patients with dysferlinopathy. ( 23254335 )
2013
48
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial. ( 23406536 )
2013
49
Dual effects of exercise in dysferlinopathy. ( 23624156 )
2013
50
An autopsy case of a dysferlinopathy patient with cardiac involvement. ( 22246893 )
2012

Variations for Dysferlinopathy

ClinVar genetic disease variations for Dysferlinopathy:

6 (show top 50) (show all 567)
# Gene Variation Type Significance SNP ID Assembly Location
1 DYSF NM_003494.3(DYSF): c.5594delG (p.Gly1865Alafs) deletion Pathogenic rs786205081 GRCh37 Chromosome 2, 71896803: 71896803
2 DYSF NM_003494.3(DYSF): c.5594delG (p.Gly1865Alafs) deletion Pathogenic rs786205081 GRCh38 Chromosome 2, 71669673: 71669673
3 DYSF NM_003494.3(DYSF): c.3892A> G (p.Ile1298Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121908954 GRCh37 Chromosome 2, 71829924: 71829924
4 DYSF NM_003494.3(DYSF): c.3892A> G (p.Ile1298Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121908954 GRCh38 Chromosome 2, 71602794: 71602794
5 DYSF NM_003494.3(DYSF): c.2779del (p.Ala927Leufs) deletion Pathogenic rs727503909 GRCh37 Chromosome 2, 71795437: 71795437
6 DYSF NM_003494.3(DYSF): c.2779del (p.Ala927Leufs) deletion Pathogenic rs727503909 GRCh38 Chromosome 2, 71568307: 71568307
7 DYSF NM_003494.3(DYSF): c.5371C> T (p.Pro1791Ser) single nucleotide variant Uncertain significance rs145832952 GRCh37 Chromosome 2, 71895914: 71895914
8 DYSF NM_003494.3(DYSF): c.5371C> T (p.Pro1791Ser) single nucleotide variant Uncertain significance rs145832952 GRCh38 Chromosome 2, 71668784: 71668784
9 DYSF NM_003494.3(DYSF): c.5371C> T (p.Pro1791Ser) single nucleotide variant Uncertain significance rs145832952 NCBI36 Chromosome 2, 71749422: 71749422
10 DYSF NM_003494.3(DYSF): c.1053+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123763 GRCh37 Chromosome 2, 71748035: 71748035
11 DYSF NM_003494.3(DYSF): c.1053+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123763 GRCh38 Chromosome 2, 71520905: 71520905
12 DYSF NM_003494.3(DYSF): c.1120G> C (p.Val374Leu) single nucleotide variant Benign/Likely benign rs150724610 GRCh37 Chromosome 2, 71753416: 71753416
13 DYSF NM_003494.3(DYSF): c.1120G> C (p.Val374Leu) single nucleotide variant Benign/Likely benign rs150724610 GRCh38 Chromosome 2, 71526286: 71526286
14 DYSF NM_003494.3(DYSF): c.1368C> A (p.Cys456Ter) single nucleotide variant Pathogenic rs202044973 GRCh37 Chromosome 2, 71762412: 71762412
15 DYSF NM_003494.3(DYSF): c.1368C> A (p.Cys456Ter) single nucleotide variant Pathogenic rs202044973 GRCh38 Chromosome 2, 71535282: 71535282
16 DYSF NM_003494.3(DYSF): c.1369G> A (p.Glu457Lys) single nucleotide variant Benign/Likely benign rs61740288 GRCh37 Chromosome 2, 71762413: 71762413
17 DYSF NM_003494.3(DYSF): c.1369G> A (p.Glu457Lys) single nucleotide variant Benign/Likely benign rs61740288 GRCh38 Chromosome 2, 71535283: 71535283
18 DYSF NM_003494.3(DYSF): c.1731G> A (p.Ala577=) single nucleotide variant Benign rs35984374 GRCh37 Chromosome 2, 71778829: 71778829
19 DYSF NM_003494.3(DYSF): c.1731G> A (p.Ala577=) single nucleotide variant Benign rs35984374 GRCh38 Chromosome 2, 71551699: 71551699
20 DYSF NM_003494.3(DYSF): c.1787C> T (p.Ala596Val) single nucleotide variant Uncertain significance rs146261069 GRCh37 Chromosome 2, 71780175: 71780175
21 DYSF NM_003494.3(DYSF): c.1787C> T (p.Ala596Val) single nucleotide variant Uncertain significance rs146261069 GRCh38 Chromosome 2, 71553045: 71553045
22 DYSF NM_003494.3(DYSF): c.1860C> T (p.Tyr620=) single nucleotide variant Benign/Likely benign rs35721373 GRCh37 Chromosome 2, 71780248: 71780248
23 DYSF NM_003494.3(DYSF): c.1860C> T (p.Tyr620=) single nucleotide variant Benign/Likely benign rs35721373 GRCh38 Chromosome 2, 71553118: 71553118
24 DYSF NM_003494.3(DYSF): c.1890G> A (p.Pro630=) single nucleotide variant Conflicting interpretations of pathogenicity rs115849497 GRCh37 Chromosome 2, 71780278: 71780278
25 DYSF NM_003494.3(DYSF): c.1890G> A (p.Pro630=) single nucleotide variant Conflicting interpretations of pathogenicity rs115849497 GRCh38 Chromosome 2, 71553148: 71553148
26 DYSF NM_003494.3(DYSF): c.2500A> G (p.Ile834Val) single nucleotide variant Benign/Likely benign rs34671418 GRCh37 Chromosome 2, 71791332: 71791332
27 DYSF NM_003494.3(DYSF): c.2500A> G (p.Ile834Val) single nucleotide variant Benign/Likely benign rs34671418 GRCh38 Chromosome 2, 71564202: 71564202
28 DYSF NM_003494.3(DYSF): c.2643+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs140108514 GRCh37 Chromosome 2, 71795213: 71795213
29 DYSF NM_003494.3(DYSF): c.2643+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs140108514 GRCh38 Chromosome 2, 71568083: 71568083
30 DYSF NM_003494.3(DYSF): c.2763G> A (p.Ser921=) single nucleotide variant Benign/Likely benign rs148902254 GRCh37 Chromosome 2, 71795421: 71795421
31 DYSF NM_003494.3(DYSF): c.2763G> A (p.Ser921=) single nucleotide variant Benign/Likely benign rs148902254 GRCh38 Chromosome 2, 71568291: 71568291
32 DYSF NM_003494.3(DYSF): c.2802G> A (p.Pro934=) single nucleotide variant Benign rs34836829 GRCh37 Chromosome 2, 71795460: 71795460
33 DYSF NM_003494.3(DYSF): c.2802G> A (p.Pro934=) single nucleotide variant Benign rs34836829 GRCh38 Chromosome 2, 71568330: 71568330
34 DYSF NM_003494.3(DYSF): c.3065G> A (p.Arg1022Gln) single nucleotide variant Benign rs34211915 GRCh37 Chromosome 2, 71797762: 71797762
35 DYSF NM_003494.3(DYSF): c.3065G> A (p.Arg1022Gln) single nucleotide variant Benign rs34211915 GRCh38 Chromosome 2, 71570632: 71570632
36 DYSF NM_003494.3(DYSF): c.3191_3196dupCGGAGG (p.Glu1065_Gly1066insAlaGlu) duplication Benign/Likely benign rs398123779 GRCh37 Chromosome 2, 71801344: 71801349
37 DYSF NM_003494.3(DYSF): c.3191_3196dupCGGAGG (p.Glu1065_Gly1066insAlaGlu) duplication Benign/Likely benign rs398123779 GRCh38 Chromosome 2, 71574214: 71574219
38 DYSF NM_003494.3(DYSF): c.3444_3445delTGinsAA (p.Tyr1148Ter) indel Pathogenic rs398123781 GRCh37 Chromosome 2, 71817342: 71817343
39 DYSF NM_003494.3(DYSF): c.3444_3445delTGinsAA (p.Tyr1148Ter) indel Pathogenic rs398123781 GRCh38 Chromosome 2, 71590212: 71590213
40 DYSF NM_003494.3(DYSF): c.3534C> T (p.Ile1178=) single nucleotide variant Conflicting interpretations of pathogenicity rs79899601 GRCh37 Chromosome 2, 71825707: 71825707
41 DYSF NM_003494.3(DYSF): c.3534C> T (p.Ile1178=) single nucleotide variant Conflicting interpretations of pathogenicity rs79899601 GRCh38 Chromosome 2, 71598577: 71598577
42 DYSF NM_003494.3(DYSF): c.383G> A (p.Gly128Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs34997054 GRCh37 Chromosome 2, 71738977: 71738977
43 DYSF NM_003494.3(DYSF): c.383G> A (p.Gly128Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs34997054 GRCh38 Chromosome 2, 71511847: 71511847
44 DYSF NM_003494.3(DYSF): c.3992G> T (p.Arg1331Leu) single nucleotide variant Benign rs61742872 GRCh37 Chromosome 2, 71838463: 71838463
45 DYSF NM_003494.3(DYSF): c.3992G> T (p.Arg1331Leu) single nucleotide variant Benign rs61742872 GRCh38 Chromosome 2, 71611333: 71611333
46 DYSF NM_003494.3(DYSF): c.4068C> T (p.Ser1356=) single nucleotide variant Benign/Likely benign rs2303607 GRCh37 Chromosome 2, 71838657: 71838657
47 DYSF NM_003494.3(DYSF): c.4068C> T (p.Ser1356=) single nucleotide variant Benign/Likely benign rs2303607 GRCh38 Chromosome 2, 71611527: 71611527
48 DYSF NM_003494.3(DYSF): c.4200dupC (p.Ile1401Hisfs) duplication Pathogenic rs398123786 GRCh37 Chromosome 2, 71839803: 71839803
49 DYSF NM_003494.3(DYSF): c.4200dupC (p.Ile1401Hisfs) duplication Pathogenic rs398123786 GRCh38 Chromosome 2, 71612673: 71612673
50 DYSF NM_003494.3(DYSF): c.4253G> A (p.Gly1418Asp) single nucleotide variant Pathogenic/Likely pathogenic rs398123787 GRCh37 Chromosome 2, 71839856: 71839856

Expression for Dysferlinopathy

Search GEO for disease gene expression data for Dysferlinopathy.

Pathways for Dysferlinopathy

GO Terms for Dysferlinopathy

Cellular components related to Dysferlinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 T-tubule GO:0030315 9.16 CAPN3 DYSF
2 nuclear membrane GO:0031965 9.13 AQP1 MYOF TOR1AIP1
3 basolateral plasma membrane GO:0016323 8.8 AQP1 AQP4 OTOF

Biological processes related to Dysferlinopathy according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.78 AQP1 CAPN3 RELA THBS1
2 response to drug GO:0042493 9.73 AQP1 RELA THBS1
3 cellular response to hydrogen peroxide GO:0070301 9.57 AQP1 RELA
4 positive regulation of cell adhesion GO:0045785 9.55 DYSF MIP
5 negative regulation of extrinsic apoptotic signaling pathway GO:2001237 9.54 RELA THBS1
6 negative regulation of protein catabolic process GO:0042177 9.52 DYSF RELA
7 response to progesterone GO:0032570 9.51 RELA THBS1
8 renal water homeostasis GO:0003091 9.49 AQP1 AQP4
9 glycerol metabolic process GO:0006071 9.43 DYSF MYOF
10 muscle fiber development GO:0048747 9.4 DYSF MYOF
11 negative regulation of protein sumoylation GO:0033234 9.37 CAPN3 RELA
12 multicellular organismal water homeostasis GO:0050891 9.32 AQP1 AQP4
13 plasma membrane repair GO:0001778 9.26 DYSF MYOF
14 cellular response to nitric oxide GO:0071732 9.16 AQP1
15 T-tubule organization GO:0033292 9.16 DYSF MYOF
16 cellular response to salt stress GO:0071472 8.96 AQP1 CAPN3
17 water transport GO:0006833 8.8 AQP1 AQP4 MIP

Molecular functions related to Dysferlinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.56 CAPN3 DYSF OTOF THBS1
2 water transmembrane transporter activity GO:0005372 9.16 AQP1 AQP4
3 channel activity GO:0015267 9.13 AQP1 AQP4 MIP
4 water channel activity GO:0015250 8.8 AQP1 AQP4 MIP

Sources for Dysferlinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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