MCID: ATS297
MIFTS: 38

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

MalaCards integrated aliases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f:

Name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 12 29 6 15
Delta-Sarcoglycanopathy 12 20 6
Limb-Girdle Muscular Dystrophy Due to Delta-Sarcoglycan Deficiency 12
Limb-Girdle Muscular Dystrophy Type 2f 70
Lgmd2f 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110280
ICD10 32 G71.0
UMLS 70 C1832525

Summaries for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in mutation in the sarcoglycan-delta gene (SGCD).

MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f, also known as delta-sarcoglycanopathy, is related to muscular dystrophy, limb-girdle, autosomal recessive 6 and muscular dystrophy, limb-girdle, autosomal recessive 4, and has symptoms including muscle weakness An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f is SGCD (Sarcoglycan Delta), and among its related pathways/superpathways are Allograft rejection and Cardiac conduction. Related phenotypes are cardiovascular system and homeostasis/metabolism

Related Diseases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
Autosomal Dominant Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Limb-Girdle Muscular Dystrophy Type 1a Limb-Girdle Muscular Dystrophy Type 1b
Limb-Girdle Muscular Dystrophy Type 1c Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

Diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 100)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 6 30.7 SGCG SGCD SGCB SGCA FKRP DYSF
2 muscular dystrophy, limb-girdle, autosomal recessive 4 29.3 TCAP SGCB SGCA FKRP DYSF CAPN3
3 limb-girdle muscular dystrophy type 1a 28.7 TCAP MYOT FKRP DYSF CAV3 CAPN3
4 muscular dystrophy, duchenne type 28.1 TCAP SGCD SGCB SGCA DMD DAG1
5 limb-girdle muscular dystrophy 28.0 TCAP SGCG SGCD SGCB SGCA MYOT
6 muscular dystrophy, limb-girdle, autosomal recessive 2 26.9 TCAP SGCG SGCD SGCB SGCA MYOT
7 myopathy 26.8 TCAP SGCG SGCD SGCB SGCA MYOT
8 muscular dystrophy 26.8 TCAP SSPN SGCG SGCD SGCB SGCA
9 autosomal recessive limb-girdle muscular dystrophy 26.5 TCAP SSPN SGCG SGCD SGCB SGCA
10 muscular dystrophy, limb-girdle, autosomal recessive 5 10.2
11 autosomal recessive limb-girdle muscular dystrophy type 2w 10.2 SGCB MYOT
12 foot drop 10.2 MYOT DYSF
13 paresthesia 10.2 FKRP CAPN3
14 muscular dystrophy, limb-girdle, autosomal recessive 3 10.1
15 miyoshi muscular dystrophy 3 10.1 DYSF CAPN3
16 progressive muscular dystrophy 10.1 SGCA DMD
17 localized lipodystrophy 10.1 DYSF DMD
18 cardiomyopathy, dilated, 1l 10.1 SGCD SGCB
19 mcleod syndrome 10.1 SGCA DMD
20 dysferlinopathy 10.1 SGCA DYSF CAPN3
21 autosomal dominant distal myopathy 10.1 MYOT DMD
22 myopathy, spheroid body 10.0 TCAP MYOT
23 myopathy, myofibrillar, 4 10.0 TCAP MYOT
24 congenital muscular dystrophy-dystroglycanopathy type a5 10.0 FKRP DAG1
25 congenital muscular dystrophy-dystroglycanopathy type a1 10.0 FKRP DAG1
26 muscular dystrophy, congenital, 1b 10.0 FKRP DAG1
27 autosomal recessive limb-girdle muscular dystrophy type 2q 9.9 TCAP SGCA MYOT
28 muscular dystrophy-dystroglycanopathy , type b, 6 9.9 FKRP DAG1
29 myopathy, myofibrillar, 1 9.9 MYOT DMD CAPN3
30 muscular dystrophy, limb-girdle, type 1h 9.9 MYOT CAV3
31 myopathy, myofibrillar, 9, with early respiratory failure 9.9 TCAP MYOT CAPN3
32 cardiomyopathy, dilated, 1d 9.9 FKRP DAG1
33 muscular dystrophy-dystroglycanopathy , type c, 9 9.9 SGCB MYOT DAG1
34 qualitative or quantitative defects of sarcoglycan 9.9
35 polyglucosan body myopathy 1 with or without immunodeficiency 9.9 FKRP DMD CAPN3
36 congenital fiber-type disproportion 9.9 MYOT DYSF DMD
37 muscular dystrophy-dystroglycanopathy , type b, 5 9.9 FKRP DAG1
38 muscular dystrophy, limb-girdle, autosomal dominant 3 9.9 MYOT CAV3
39 muscular dystrophy, limb-girdle, autosomal recessive 1 9.9 SGCB CAPN3
40 myositis 9.9 DYSF DMD CAPN3
41 muscular dystrophy-dystroglycanopathy , type c, 3 9.8 SGCG FKRP DAG1
42 muscular dystrophy-dystroglycanopathy , type c, 2 9.8 FKRP DAG1 CAPN3
43 gas gangrene 9.8 DMD DAG1
44 progressive muscular atrophy 9.8 CAV3 CAPN3
45 autosomal recessive limb-girdle muscular dystrophy type 2x 9.8 MYOT DYSF CAV3
46 x-linked monogenic disease 9.7 SGCA DMD DAG1
47 rippling muscle disease 2 9.7 SSPN DYSF CAV3
48 adermatoglyphia 9.7 FKRP DAG1
49 muscular dystrophy, limb-girdle, autosomal recessive 8 9.7 TCAP FKRP DYSF CAPN3
50 cobblestone lissencephaly 9.7 FKRP DMD DAG1

Graphical network of the top 20 diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f:



Diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Symptoms & Phenotypes for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

UMLS symptoms related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f:


muscle weakness

MGI Mouse Phenotypes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 CAPN3 CAV3 DAG1 DMD FKRP SGCA
2 homeostasis/metabolism MP:0005376 9.7 CAPN3 CAV3 DAG1 DMD DYSF FKRP
3 muscle MP:0005369 9.4 CAPN3 CAV3 DAG1 DMD DYSF FKRP

Drugs & Therapeutics for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Genetic Tests for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Genetic tests related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f:

# Genetic test Affiliating Genes
1 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 29 SGCD

Anatomical Context for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Publications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Articles related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f:

(show all 13)
# Title Authors PMID Year
1
A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F. 6 61
10838250 2000
2
LGMD2E is the most common type of sarcoglycanopathies in the Iranian population. 6
28687063 2017
3
Clinical application of whole-exome sequencing across clinical indications. 6
26633542 2016
4
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. 6
26077850 2015
5
Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist? 6
19259135 2009
6
Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T. 6
19770540 2009
7
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. 6
17994539 2008
8
Identification of functional domains in sarcoglycans essential for their interaction and plasma membrane targeting. 6
16524571 2006
9
A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies. 6
9832045 1998
10
Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). 6
10735275 1997
11
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. 6
8841194 1996
12
[Anesthetic management of a child with delta sarcoglycanopathy]. 61
17346919 2007
13
Sarcoglycanopathies: a report of 25 cases. 61
11960147 2002

Variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

ClinVar genetic disease variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f:

6 (show top 50) (show all 364)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SGCD NM_000337.5(SGCD):c.657del (p.Thr220fs) Deletion Pathogenic 8171 rs1369919728 GRCh37: 5:156184672-156184672
GRCh38: 5:156757661-156757661
2 SGCD NM_000337.5(SGCD):c.89G>A (p.Trp30Ter) SNV Pathogenic 8173 rs121909296 GRCh37: 5:155771584-155771584
GRCh38: 5:156344574-156344574
3 SGCD NM_000337.5(SGCD):c.784G>A (p.Glu262Lys) SNV Pathogenic 8174 rs121909297 GRCh37: 5:156186312-156186312
GRCh38: 5:156759301-156759301
4 SGCD NM_000337.5(SGCD):c.391G>C (p.Ala131Pro) SNV Pathogenic 8177 rs267607045 GRCh37: 5:156021950-156021950
GRCh38: 5:156594940-156594940
5 SGCD NM_000337.5(SGCD):c.74_77dup (p.Ile27fs) Duplication Pathogenic 411697 rs1554094947 GRCh37: 5:155771566-155771567
GRCh38: 5:156344556-156344557
6 SGCD NC_000005.10:g.(?_156757561)_(156759410_?)del Deletion Pathogenic 584277 GRCh37: 5:156184572-156186421
GRCh38: 5:156757561-156759410
7 SGCD NC_000005.10:g.(?_156329567)_(156344687_?)del Deletion Pathogenic 831480 GRCh37: 5:155756577-155771697
GRCh38:
8 SGCD NC_000005.9:g.(?_155338082)_(156186411_?)del Deletion Pathogenic 832673 GRCh37: 5:155338082-156186411
GRCh38:
9 SGCD NM_172244.3(SGCD):c.354_358del (p.Thr119fs) Deletion Pathogenic 946381 GRCh37: 5:156016299-156016303
GRCh38: 5:156589289-156589293
10 SGCD NM_000337.5(SGCD):c.493C>T (p.Arg165Ter) SNV Pathogenic 8172 rs121909295 GRCh37: 5:156022052-156022052
GRCh38: 5:156595042-156595042
11 SGCD NM_000337.5(SGCD):c.493C>T (p.Arg165Ter) SNV Pathogenic 8172 rs121909295 GRCh37: 5:156022052-156022052
GRCh38: 5:156595042-156595042
12 SGCD NM_000337.5(SGCD):c.4-1G>T SNV Likely pathogenic 583211 rs1554094927 GRCh37: 5:155771498-155771498
GRCh38: 5:156344488-156344488
13 SGCD NM_000337.5(SGCD):c.69C>A (p.Tyr23Ter) SNV Likely pathogenic 553642 rs397517923 GRCh37: 5:155771564-155771564
GRCh38: 5:156344554-156344554
14 SGCD NM_000337.5(SGCD):c.699+1G>T SNV Likely pathogenic 558197 rs1554137130 GRCh37: 5:156184716-156184716
GRCh38: 5:156757705-156757705
15 SGCD NM_000337.5(SGCD):c.192+1G>A SNV Likely pathogenic 551052 rs1267810339 GRCh37: 5:155771688-155771688
GRCh38: 5:156344678-156344678
16 SGCD NM_000337.5(SGCD):c.663C>A (p.Cys221Ter) SNV Likely pathogenic 557026 rs1175344271 GRCh37: 5:156184679-156184679
GRCh38: 5:156757668-156757668
17 SGCD NM_000337.5(SGCD):c.618del (p.Gly207fs) Deletion Likely pathogenic 557061 rs1554137109 GRCh37: 5:156184631-156184631
GRCh38: 5:156757620-156757620
18 SGCD NM_000337.5(SGCD):c.294+1G>A SNV Likely pathogenic 165232 rs727503422 GRCh37: 5:155935713-155935713
GRCh38: 5:156508703-156508703
19 SGCD NM_000337.5(SGCD):c.4-1G>A SNV Likely pathogenic 532691 rs1554094927 GRCh37: 5:155771498-155771498
GRCh38: 5:156344488-156344488
20 SGCD NM_000337.5(SGCD):c.98G>A (p.Arg33Gln) SNV Uncertain significance 532692 rs1488623227 GRCh37: 5:155771593-155771593
GRCh38: 5:156344583-156344583
21 SGCD NM_000337.5(SGCD):c.461A>G (p.Asn154Ser) SNV Uncertain significance 532693 rs759767804 GRCh37: 5:156022020-156022020
GRCh38: 5:156595010-156595010
22 SGCD NM_000337.5(SGCD):c.437G>T (p.Gly146Val) SNV Uncertain significance 532694 rs1438925313 GRCh37: 5:156021996-156021996
GRCh38: 5:156594986-156594986
23 SGCD NM_000337.5(SGCD):c.744T>G (p.His248Gln) SNV Uncertain significance 464020 rs1160680799 GRCh37: 5:156186272-156186272
GRCh38: 5:156759261-156759261
24 SGCD NM_000337.5(SGCD):c.434C>G (p.Ser145Cys) SNV Uncertain significance 464019 rs1324593212 GRCh37: 5:156021993-156021993
GRCh38: 5:156594983-156594983
25 SGCD NM_000337.5(SGCD):c.354G>T (p.Gln118His) SNV Uncertain significance 464018 rs770930747 GRCh37: 5:156016300-156016300
GRCh38: 5:156589290-156589290
26 SGCD NM_000337.5(SGCD):c.175G>T (p.Val59Phe) SNV Uncertain significance 464016 rs1274415049 GRCh37: 5:155771670-155771670
GRCh38: 5:156344660-156344660
27 SGCD NM_000337.5(SGCD):c.285G>C (p.Gln95His) SNV Uncertain significance 532690 rs1421460814 GRCh37: 5:155935703-155935703
GRCh38: 5:156508693-156508693
28 SGCD NM_000337.5(SGCD):c.767C>T (p.Thr256Met) SNV Uncertain significance 464021 rs578056399 GRCh37: 5:156186295-156186295
GRCh38: 5:156759284-156759284
29 SGCD NM_000337.5(SGCD):c.*3420C>T SNV Uncertain significance 352370 rs886060299 GRCh37: 5:156189821-156189821
GRCh38: 5:156762810-156762810
30 SGCD NM_000337.5(SGCD):c.761C>T (p.Thr254Ile) SNV Uncertain significance 411707 rs372607729 GRCh37: 5:156186289-156186289
GRCh38: 5:156759278-156759278
31 SGCD NM_000337.5(SGCD):c.559C>T (p.Pro187Ser) SNV Uncertain significance 411708 rs769250018 GRCh37: 5:156074530-156074530
GRCh38: 5:156647520-156647520
32 SGCD NM_000337.5(SGCD):c.*5663A>G SNV Uncertain significance 352408 rs151214419 GRCh37: 5:156192064-156192064
GRCh38: 5:156765053-156765053
33 SGCD NM_000337.5(SGCD):c.*3845T>C SNV Uncertain significance 352377 rs528838126 GRCh37: 5:156190246-156190246
GRCh38: 5:156763235-156763235
34 SGCD NM_000337.5(SGCD):c.*6660dup Duplication Uncertain significance 352425 rs57240389 GRCh37: 5:156193045-156193046
GRCh38: 5:156766034-156766035
35 SGCD NM_000337.5(SGCD):c.*8380A>G SNV Uncertain significance 352454 rs556296196 GRCh37: 5:156194781-156194781
GRCh38: 5:156767770-156767770
36 SGCD NM_000337.5(SGCD):c.*8355C>T SNV Uncertain significance 352453 rs886060324 GRCh37: 5:156194756-156194756
GRCh38: 5:156767745-156767745
37 SGCD NM_000337.5(SGCD):c.*7489G>A SNV Uncertain significance 352439 rs886060322 GRCh37: 5:156193890-156193890
GRCh38: 5:156766879-156766879
38 SGCD NM_000337.5(SGCD):c.*8110A>C SNV Uncertain significance 352452 rs796540027 GRCh37: 5:156194511-156194511
GRCh38: 5:156767500-156767500
39 SGCD NM_000337.5(SGCD):c.*6785C>T SNV Uncertain significance 352431 rs886060318 GRCh37: 5:156193186-156193186
GRCh38: 5:156766175-156766175
40 SGCD NM_000337.5(SGCD):c.193-10T>A SNV Uncertain significance 352332 rs886060285 GRCh37: 5:155935601-155935601
GRCh38: 5:156508591-156508591
41 SGCD NM_000337.5(SGCD):c.*148G>A SNV Uncertain significance 352337 rs886060287 GRCh37: 5:156186549-156186549
GRCh38: 5:156759538-156759538
42 SGCD NM_000337.5(SGCD):c.-135C>T SNV Uncertain significance 352330 rs886060284 GRCh37: 5:155754151-155754151
GRCh38: 5:156327141-156327141
43 SGCD NM_000337.5(SGCD):c.*6917C>T SNV Uncertain significance 352433 rs549743616 GRCh37: 5:156193318-156193318
GRCh38: 5:156766307-156766307
44 SGCD NM_000337.5(SGCD):c.*4303T>C SNV Uncertain significance 352386 rs554618416 GRCh37: 5:156190704-156190704
GRCh38: 5:156763693-156763693
45 SGCD NM_000337.5(SGCD):c.*3491G>A SNV Uncertain significance 352371 rs886060300 GRCh37: 5:156189892-156189892
GRCh38: 5:156762881-156762881
46 SGCD NM_000337.5(SGCD):c.*5591G>A SNV Uncertain significance 352407 rs746078886 GRCh37: 5:156191992-156191992
GRCh38: 5:156764981-156764981
47 SGCD NM_000337.5(SGCD):c.*1856A>T SNV Uncertain significance 352357 rs886060295 GRCh37: 5:156188257-156188257
GRCh38: 5:156761246-156761246
48 SGCD NM_000337.5(SGCD):c.*4993A>C SNV Uncertain significance 352398 rs62382385 GRCh37: 5:156191394-156191394
GRCh38: 5:156764383-156764383
49 SGCD NM_000337.5(SGCD):c.*6223T>A SNV Uncertain significance 352419 rs886060313 GRCh37: 5:156192624-156192624
GRCh38: 5:156765613-156765613
50 SGCD NM_000337.5(SGCD):c.716C>T (p.Ala239Val) SNV Uncertain significance 352336 rs377153196 GRCh37: 5:156186244-156186244
GRCh38: 5:156759233-156759233

Expression for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Search GEO for disease gene expression data for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f.

Pathways for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Pathways related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.37 SGCG SGCD SGCB SGCA DMD DAG1
2
Show member pathways
12.35 TCAP DYSF DMD CAV3
3
Show member pathways
11.7 SGCG SGCD SGCB SGCA DMD DAG1
4 11.29 SGCG SGCD SGCB SGCA DMD DAG1
5 10.92 DYSF CAV3
6 10.71 SSPN DMD DAG1

GO Terms for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Cellular components related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.26 SSPN SGCG SGCD SGCB SGCA MYOT
2 cytoplasm GO:0005737 10.22 TCAP SGCG SGCD SGCB SGCA MYOT
3 plasma membrane GO:0005886 10.15 SSPN SGCG SGCD SGCB SGCA MYOT
4 cytoskeleton GO:0005856 9.95 SGCG SGCD SGCB SGCA MYOT DMD
5 membrane raft GO:0045121 9.76 SGCA DMD DAG1 CAV3
6 Z disc GO:0030018 9.72 TCAP MYOT DMD CAV3 CAPN3
7 postsynaptic membrane GO:0045211 9.69 SSPN DMD DAG1
8 T-tubule GO:0030315 9.61 DYSF CAV3 CAPN3
9 dystrophin-associated glycoprotein complex GO:0016010 9.5 SSPN SGCD SGCB SGCA DMD DAG1
10 costamere GO:0043034 9.49 DMD DAG1
11 sarcoglycan complex GO:0016012 9.46 SGCG SGCD SGCB SGCA
12 dystroglycan complex GO:0016011 9.43 SGCB SGCA DAG1
13 sarcolemma GO:0042383 9.36 SSPN SGCG SGCD SGCB SGCA MYOT

Biological processes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 muscle filament sliding GO:0030049 9.6 TCAP DMD
2 sarcomere organization GO:0045214 9.59 TCAP CAPN3
3 regulation of heart rate GO:0002027 9.58 DMD CAV3
4 negative regulation of MAPK cascade GO:0043409 9.58 DAG1 CAV3
5 positive regulation of cell-matrix adhesion GO:0001954 9.57 DMD DAG1
6 plasma membrane organization GO:0007009 9.56 DYSF CAV3
7 cardiac muscle tissue development GO:0048738 9.55 SGCG SGCD
8 response to muscle stretch GO:0035994 9.54 TCAP DMD
9 heart contraction GO:0060047 9.52 SGCG SGCD
10 muscle fiber development GO:0048747 9.51 SGCB DMD
11 skeletal muscle tissue regeneration GO:0043403 9.5 SGCA DMD DAG1
12 plasma membrane repair GO:0001778 9.49 DYSF CAV3
13 cardiac muscle cell development GO:0055013 9.48 SGCB CAV3
14 T-tubule organization GO:0033292 9.46 DYSF CAV3
15 nucleus localization GO:0051647 9.43 DMD CAV3
16 muscle cell cellular homeostasis GO:0046716 9.43 DMD CAV3 CAPN3
17 detection of muscle stretch GO:0035995 9.4 TCAP CAV3
18 regulation of skeletal muscle contraction GO:0014819 9.37 DMD CAV3
19 muscle contraction GO:0006936 9.35 SSPN SGCA MYOT DYSF CAV3
20 response to denervation involved in regulation of muscle adaptation GO:0014894 9.33 SGCA DMD DAG1
21 muscle organ development GO:0007517 9.17 SGCG SGCD SGCB SGCA DMD CAV3

Molecular functions related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 alpha-actinin binding GO:0051393 9.37 MYOT DAG1
2 nitric-oxide synthase binding GO:0050998 9.32 DMD CAV3
3 titin binding GO:0031432 9.26 TCAP CAPN3
4 vinculin binding GO:0017166 9.16 DMD DAG1
5 dystroglycan binding GO:0002162 9.13 FKRP DMD DAG1
6 structural constituent of muscle GO:0008307 9.02 TCAP MYOT DMD DAG1 CAPN3

Sources for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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