MCID: BTH005
MIFTS: 46

Bethlem Myopathy 1 malady

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

Aliases & Classifications for Bethlem Myopathy 1

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Bethlem Myopathy 1:

Name: Bethlem Myopathy 1 51 69 26
Bethlem Myopathy 11 47 24 53 69 12 49 13 67
Myopathy, Benign Congenital, with Contractures 47 69
Muscular Dystrophy, Benign Congenital 47 69
 
Benign Congenital Myopathy with Contractures 24
Benign Congenital Muscular Dystrophy 11
Benign Autosomal Dominant Myopathy 53
Bthlm1 69

Characteristics:

Orphanet epidemiological data:

53
bethlem myopathy:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: normal life expectancy

HPO:

63

Classifications:



External Ids:

OMIM51 158810
Disease Ontology11 DOID:0050663
Orphanet53 ORPHA610
MESH via Orphanet39 C535436
UMLS via Orphanet68 C1834674
ICD10 via Orphanet30 G71.0
MedGen36 C1834674
MeSH38 D009136

Summaries for Bethlem Myopathy 1

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NIH Rare Diseases:47 Bethlem myopathy is an inherited movement disorder characterized by progressive muscle weakness and joint stiffness (contractures) in the fingers, wrists, elbows, and ankles. Due to a progressive course, up to two-thirds of people with this condition require a walker or wheelchair after the age of 50. Bethlem myopathy is caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. Most cases are inherited in an autosomal dominant pattern and occur as the result of a new mutation. In rare cases, the disease follows an autosomal recessive pattern of inheritance. Treatment depends upon individual symptoms, but routinely involves physical therapy. Surgery or other measures may be undertaken as needed. Last updated: 2/4/2015

MalaCards based summary: Bethlem Myopathy 1, also known as bethlem myopathy, is related to ullrich congenital muscular dystrophy 1 and bethlem myopathy 2, and has symptoms including limitation of joint mobility, myopathy and emg abnormality. An important gene associated with Bethlem Myopathy 1 is COL6A3 (Collagen Type VI Alpha 3 Chain), and among its related pathways are Muscular Dystrophies and Dystrophin-Glycoprotein Complex and NCAM1 interactions. Related mouse phenotypes are muscle and growth/size/body region.

UniProtKB/Swiss-Prot:69 Bethlem myopathy 1: A benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles.

Wikipedia:70 Bethlem myopathy is an autosomal dominant myopathy, classified as a congenital form of muscular... more...

Description from OMIM:51 158810

Related Diseases for Bethlem Myopathy 1

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Diseases in the Bethlem Myopathy 1 family:

Bethlem Myopathy 2

Diseases related to Bethlem Myopathy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1ullrich congenital muscular dystrophy 129.0CAPN3, COL12A1, COL6A1, COL6A2, COL6A3, COL6A5
2bethlem myopathy 212.3
3collagen vi-related myopathy11.3
4ullrich congenital muscular dystrophy 210.9
5ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.9
6myopathy10.7
7cataract 9, multiple types10.5COL6A1, COL6A2
8muscular dystrophy10.5
9dystonia 2710.3COL6A1, COL6A2, COL6A3
10congenital hepatic fibrosis10.3COL6A1, COL6A2, COL6A3
11cerebellar agenesis10.3DMD, DYSF
12myelodysplastic myeloproliferative cancer10.3COL6A1, COL6A2, COL6A3
13cataract10.2CAPN3, DYSF
14miyoshi muscular dystrophy 110.2CAPN3, DYSF
15dystrophinopathies10.2CAPN3, DYSF
16segawa syndrome, recessive10.1DMD, DYSF
17keloids10.1
18myopathy, distal, 410.1DMD, DYSF
19fletcher factor deficiency10.0CAPN3, DMD
20limb-girdle muscular dystrophy10.0
21adrenal gland hyperfunction10.0ANO5, DYSF
22microcephaly and chorioretinopathy 110.0DMD, DYSF, LMNA
23cubitus valgus with mental retardation and unusual facies9.9DMD, LAMA2
24schindler disease9.9DMD, DYSF, SGCG
25becker muscular dystrophy9.9
26calpainopathy9.9
27ptosis9.9
28benign autosomal dominant myopathy9.9
29keloid formation9.9
30sarcoglycanopathies9.9
31extraosseous ewing's sarcoma9.9COL6A1, COL6A2, COL6A3, DYSF
32muscular dystrophy-dystroglycanopathy , type b, 49.9DMD, LAMA2
33autoimmune disease of skin and connective tissue9.8DMD, LMNA
34thrombocytopenia, x-linked9.6DMD, DYSF, LAMA2
35ectodermal dysplasia9.4DMD, LAMA2, LMNA
36muscular dystrophy, congenital9.0COL6A1, COL6A2, COL6A3, DMD, LAMA2, LMNA
37emery-dreifuss muscular dystrophy9.0ANO5, CAPN3, DYSF, LMNA, SGCG
38classic variant of chromophobe renal cell carcinoma8.3ANO5, CAPN3, DMD, DYSF, LAMA2, SGCG
39median arcuate ligament syndrome7.5ANO5, CAPN3, COL6A2, COL6A3, DMD, DYSF

Graphical network of the top 20 diseases related to Bethlem Myopathy 1:



Diseases related to bethlem myopathy 1

Symptoms for Bethlem Myopathy 1

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Symptoms by clinical synopsis from OMIM:

158810

Clinical features from OMIM:

158810

Human phenotypes related to Bethlem Myopathy 1:

 63 53 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 limitation of joint mobility63 hallmark (90%) HP:0001376
2 myopathy63 53 hallmark (90%) Very frequent (99-80%) HP:0003198
3 emg abnormality63 53 hallmark (90%) Very frequent (99-80%) HP:0003457
4 decreased body weight63 hallmark (90%) HP:0004325
5 camptodactyly of finger63 53 hallmark (90%) Very frequent (99-80%) HP:0100490
6 torticollis63 HP:0000473
7 motor delay63 HP:0001270
8 neonatal hypotonia63 HP:0001319
9 decreased fetal movement63 HP:0001558
10 abnormality of the cardiovascular system63 HP:0001626
11 distal muscle weakness63 HP:0002460
12 respiratory insufficiency due to muscle weakness63 HP:0002747
13 elbow flexion contracture63 HP:0002987
14 elevated serum creatine phosphokinase63 HP:0003236
15 limb-girdle muscle weakness63 HP:0003325
16 proximal muscle weakness63 HP:0003701
17 congenital muscular torticollis63 HP:0005988
18 ankle contracture63 HP:0006466
19 joint stiffness53 Very frequent (99-80%)
20 cachexia53 Very frequent (99-80%)

Drugs & Therapeutics for Bethlem Myopathy 1

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Low Protein Diet in Patients With Collagen VI Related MyopathiesCompletedNCT01438788Phase 2
2The Effect of Aerobic Exercise, on Fitness and Functional Muscle Strength, in Patients With Muscular DystrophyCompletedNCT01895283
3Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

Search NIH Clinical Center for Bethlem Myopathy 1

Genetic Tests for Bethlem Myopathy 1

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Genetic tests related to Bethlem Myopathy 1:

id Genetic test Affiliating Genes
1 Bethlem Myopathy 126
2 Bethlem Myopathy24

Anatomical Context for Bethlem Myopathy 1

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Animal Models for Bethlem Myopathy 1 or affiliated genes

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MGI Mouse Phenotypes related to Bethlem Myopathy 1:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.5CAPN3, COL12A1, COL6A1, COL6A3, DMD, DYSF
2MP:00053787.5ADAMTS18, CAPN3, COL12A1, COL6A2, COL6A3, DMD
3MP:00053907.3ADAMTS18, COL12A1, COL6A3, DMD, LAMA2, LMNA

Publications for Bethlem Myopathy 1

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Variations for Bethlem Myopathy 1

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UniProtKB/Swiss-Prot genetic disease variations for Bethlem Myopathy 1:

69 (show all 25)
id Symbol AA change Variation ID SNP ID
1COL6A1p.Lys121ArgVAR_013580rs121912936
2COL6A1p.Gly305ValVAR_013581
3COL6A1p.Gly341AspVAR_013582rs121912935
4COL6A1p.Ser116AsnVAR_058213rs11553519
5COL6A1p.Gly272AspVAR_058214
6COL6A1p.Pro274LeuVAR_058215rs201093313
7COL6A1p.Gly275ArgVAR_058216
8COL6A1p.Gly290ArgVAR_058219rs121912939
9COL6A1p.Gly341ValVAR_058221
10COL6A1p.Lys571ThrVAR_058222rs751040647
11COL6A2p.Gly271SerVAR_013589rs121912940
12COL6A2p.Asp621AsnVAR_013590rs267606750
13COL6A2p.Gly700SerVAR_058231rs794727418
14COL6A2p.Cys777ArgVAR_058233rs267606747
15COL6A2p.Pro932LeuVAR_058241rs117725825
16COL6A3p.Gly1679GluVAR_001910rs121434553
17COL6A3p.Lys1014GluVAR_058248rs114284669
18COL6A3p.Glu1386LysVAR_058250rs146092501
19COL6A3p.Asn1467AspVAR_058252rs138049094
20COL6A3p.Leu1726ArgVAR_058257rs121434555
21COL6A3p.Val1985MetVAR_058258rs200478135
22COL6A3p.Gly2047AspVAR_058259
23COL6A3p.Gly2056ArgVAR_058260
24COL6A3p.Gly2080AspVAR_058261rs794727188
25COL6A3p.Ala2941ValVAR_058264rs11903206

Clinvar genetic disease variations for Bethlem Myopathy 1:

5 (show all 64)
id Gene Variation Type Significance SNP ID Assembly Location
1COL6A3NM_004369.3(COL6A3): c.5036G> A (p.Gly1679Glu)SNVLikely pathogenic, Pathogenicrs121434553GRCh37Chr 2, 238275794: 238275794
2COL6A3COL6A3, IVS15DS, GT-TC, +1undetermined variantPathogenicChr na, -1: -1
3COL6A3NM_004369.3(COL6A3): c.5177T> G (p.Leu1726Arg)SNVPathogenicrs121434555GRCh37Chr 2, 238275653: 238275653
4COL6A2NM_001849.3(COL6A2): c.811G> A (p.Gly271Ser)SNVPathogenicrs121912940GRCh37Chr 21, 47535795: 47535795
5COL6A2NM_001849.3(COL6A2): c.1861G> A (p.Asp621Asn)SNVPathogenicrs267606750GRCh37Chr 21, 47545423: 47545423
6COL6A2COL6A2, IVS10AS, A-G, -2SNVPathogenicChr na, -1: -1
7COL6A1NM_001848.2(COL6A1): c.1577G> T (p.Gly526Val)SNVPathogenicrs121912934GRCh37Chr 21, 47418313: 47418313
8COL6A1COL6A1, IVS11AS, G-A, -1SNVPathogenicChr na, -1: -1
9COL6A1NM_001848.2(COL6A1): c.1003_1056del54SNVPathogenicrs797044456GRCh38Chr 21, 45990828: 45990828
10COL6A1NM_001848.2(COL6A1): c.1022G> A (p.Gly341Asp)SNVPathogenicrs121912935GRCh37Chr 21, 47410706: 47410706
11COL6A1NM_001848.2(COL6A1): c.362A> G (p.Lys121Arg)SNVPathogenicrs121912936GRCh37Chr 21, 47404317: 47404317
12COL6A1NM_001848.2(COL6A1): c.1003_1056del54SNVPathogenicrs398123631GRCh37Chr 21, 47410741: 47410741
13COL6A1COL6A1, IVS3DS, G-A, +1SNVPathogenicChr na, -1: -1
14COL6A1NM_001848.2(COL6A1): c.850G> A (p.Gly284Arg)SNVPathogenicrs121912938GRCh37Chr 21, 47409043: 47409043
15COL6A1NM_001848.2(COL6A1): c.904G> C (p.Gly302Arg)SNVPathogenicrs794727028GRCh37Chr 21, 47409666: 47409666
16COL6A1NM_001848.2(COL6A1): c.957+2T> CSNVPathogenicrs794727060GRCh37Chr 21, 47410200: 47410200
17COL6A1NM_001848.2(COL6A1): c.1013G> A (p.Gly338Glu)SNVPathogenicrs794727121GRCh37Chr 21, 47410697: 47410697
18COL6A3NM_004369.3(COL6A3): c.6239G> A (p.Gly2080Asp)SNVPathogenicrs794727188GRCh37Chr 2, 238268774: 238268774
19COL6A3NM_004369.3(COL6A3): c.6293G> T (p.Gly2098Val)SNVPathogenicrs794727206GRCh37Chr 2, 238268021: 238268021
20COL6A3NM_004369.3(COL6A3): c.7447A> G (p.Lys2483Glu)SNVPathogenicrs139260335GRCh37Chr 2, 238253214: 238253214
21COL6A2NM_001849.3(COL6A2): c.801+1G> ASNVPathogenicrs794727715GRCh37Chr 21, 47533988: 47533988
22COL6A2NM_001849.3(COL6A2): c.812G> A (p.Gly271Asp)SNVPathogenicrs794727788GRCh37Chr 21, 47535796: 47535796
23COL6A2NM_001849.3(COL6A2): c.875G> T (p.Gly292Val)SNVPathogenicrs794727855GRCh37Chr 21, 47535942: 47535942
24COL6A2NM_001849.3(COL6A2): c.2096G> A (p.Gly699Asp)SNVLikely pathogenicrs863224861GRCh38Chr 21, 46125911: 46125911
25COL6A2NM_001849.3(COL6A2): c.954G> T (p.Lys318Asn)SNVLikely pathogenicrs878854362GRCh37Chr 21, 47536591: 47536591
26COL6A3NM_004369.3(COL6A3): c.7264C> T (p.Arg2422Ter)SNVLikely pathogenicrs878854379GRCh37Chr 2, 238253397: 238253397
27COL6A1NM_001848.2(COL6A1): c.1425delA (p.Gly476Alafs)deletionLikely pathogenic, Pathogenicrs878854398GRCh38Chr 21, 45997447: 45997447
28COL6A1NM_001848.2(COL6A1): c.931-1G> ASNVPathogenicrs886042354GRCh37Chr 21, 47410171: 47410171
29COL6A3NM_004369.3(COL6A3): c.5010T> A (p.Tyr1670Ter)SNVPathogenicrs886042402GRCh37Chr 2, 238275820: 238275820
30COL6A1NM_001848.2(COL6A1): c.1022G> T (p.Gly341Val)SNVPathogenicrs121912935GRCh37Chr 21, 47410706: 47410706
31COL6A3NM_004369.3(COL6A3): c.4124delA (p.Gln1375Argfs)deletionPathogenicrs886042447GRCh37Chr 2, 238280536: 238280536
32COL6A2NM_001849.3(COL6A2): c.920G> T (p.Gly307Val)SNVLikely pathogenicrs886042541GRCh37Chr 21, 47536310: 47536310
33COL6A3NM_004369.3(COL6A3): c.7796_7797delTT (p.Phe2599Trpfs)deletionPathogenicrs886042623GRCh37Chr 2, 238249762: 238249763
34COL6A2NM_001849.3(COL6A2): c.901G> A (p.Gly301Ser)SNVPathogenicrs886042705GRCh37Chr 21, 47536291: 47536291
35COL6A1NM_001848.2(COL6A1): c.1611+1G> ASNVPathogenicrs886042748GRCh37Chr 21, 47418348: 47418348
36COL6A1NM_001848.2(COL6A1): c.930+1G> ASNVPathogenicrs886042902GRCh37Chr 21, 47409693: 47409693
37COL6A3NM_004369.3(COL6A3): c.6175G> T (p.Gly2059Cys)SNVPathogenicrs758124326GRCh37Chr 2, 238269799: 238269799
38COL6A2NM_001849.3(COL6A2): c.785G> A (p.Gly262Asp)SNVPathogenicrs886042943GRCh37Chr 21, 47533971: 47533971
39COL6A1NM_001848.2(COL6A1): c.928_930delAAG (p.Lys310del)deletionPathogenicrs886043114GRCh37Chr 21, 47409690: 47409692
40COL6A2NM_001849.3(COL6A2): c.1053+1G> ASNVPathogenicrs886043187GRCh37Chr 21, 47537368: 47537368
41COL6A2NM_001849.3(COL6A2): c.865G> T (p.Gly289Cys)SNVPathogenicrs886043270GRCh37Chr 21, 47535932: 47535932
42COL6A1NM_001848.2(COL6A1): c.1039_1052delGGCTCGCCCGGGTT (p.Gly347Terfs)deletionPathogenicrs886043291GRCh37Chr 21, 47410723: 47410736
43COL6A1NM_001848.2(COL6A1): c.1021G> T (p.Gly341Cys)SNVPathogenicrs886043321GRCh37Chr 21, 47410705: 47410705
44COL6A2NM_001849.3(COL6A2): c.838G> C (p.Gly280Arg)SNVLikely pathogenicrs886043323GRCh37Chr 21, 47535822: 47535822
45COL6A1NM_001848.2(COL6A1): c.1003-1G> ASNVPathogenicrs886043330GRCh37Chr 21, 47410686: 47410686
46COL6A2NM_001849.3(COL6A2): c.801+1G> TSNVPathogenicrs794727715GRCh37Chr 21, 47533988: 47533988
47COL6A3NM_004369.3(COL6A3): c.761delG (p.Gly254Glufs)deletionPathogenicrs780921503GRCh37Chr 2, 238296776: 238296776
48COL6A1NM_001848.2(COL6A1): c.1002+1G> TSNVPathogenicrs886043700GRCh37Chr 21, 47410337: 47410337
49COL6A1NM_001848.2(COL6A1): c.1002+1G> ASNVPathogenicrs886043700GRCh37Chr 21, 47410337: 47410337
50COL6A2NM_001849.3(COL6A2): c.1054-2A> GSNVPathogenicrs886044023GRCh37Chr 21, 47537786: 47537786
51COL6A2NM_001849.3(COL6A2): c.1053+2delTdeletionPathogenicrs886044140GRCh37Chr 21, 47537369: 47537369
52COL6A1NM_001848.2(COL6A1): c.932G> A (p.Gly311Asp)SNVPathogenicrs886044231GRCh37Chr 21, 47410173: 47410173
53COL6A1NM_001848.2(COL6A1): c.931-1G> CSNVLikely pathogenicrs886042354GRCh37Chr 21, 47410171: 47410171
54COL6A2NM_001849.3(COL6A2): c.1396-11_1396-2delCTTTCTTCCAdeletionPathogenicrs886044484GRCh37Chr 21, 47540964: 47540973
55COL6A2NM_001849.3(COL6A2): c.1096C> T (p.Arg366Ter)SNVPathogenicrs387906609GRCh37Chr 21, 47537830: 47537830
56COL6A2NM_001849.3(COL6A2): c.2611G> A (p.Asp871Asn)SNVLikely pathogenic, Pathogenicrs387906610GRCh37Chr 21, 47552017: 47552017
57COL6A1NM_001848.2(COL6A1): c.805-2A> GSNVPathogenicrs398123639GRCh37Chr 21, 47408996: 47408996
58COL6A1NM_001848.2(COL6A1): c.868G> A (p.Gly290Arg)SNVPathogenicrs121912939GRCh37Chr 21, 47409531: 47409531
59COL6A2NM_001849.3(COL6A2): c.1461delA (p.Ser488Leufs)deletionPathogenicrs398123645GRCh37Chr 21, 47541472: 47541472
60COL6A2NM_001849.3(COL6A2): c.1522-1G> ASNVPathogenicrs398123646GRCh37Chr 21, 47542021: 47542021
61COL6A2NM_001849.3(COL6A2): c.855+2T> GSNVPathogenicrs113525292GRCh37Chr 21, 47535841: 47535841
62COL6A3NM_004369.3(COL6A3): c.175C> T (p.Arg59Ter)SNVPathogenicrs398124119GRCh37Chr 2, 238303764: 238303764
63COL6A3NM_004369.3(COL6A3): c.6210+1G> ASNVPathogenicrs398124126GRCh37Chr 2, 238269763: 238269763
64COL6A3NM_004369.3(COL6A3): c.6282+1G> ASNVPathogenicrs398124128GRCh37Chr 2, 238268730: 238268730

Copy number variations for Bethlem Myopathy 1 from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
142157102960000038000000DulITGB1Bethlem myopathy

Expression for genes affiliated with Bethlem Myopathy 1

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Search GEO for disease gene expression data for Bethlem Myopathy 1.

Pathways for genes affiliated with Bethlem Myopathy 1

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GO Terms for genes affiliated with Bethlem Myopathy 1

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Cellular components related to Bethlem Myopathy 1 according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1collagen type VI trimerGO:000558910.5COL6A1, COL6A3
2T-tubuleGO:003031510.3CAPN3, DYSF
3collagen trimerGO:000558110.2COL6A2, COL6A3, COL6A5
4extracellular vesicleGO:190356110.0COL12A1, COL6A2, COL6A3
5myofibrilGO:00300169.9CAPN3, DMD
6endoplasmic reticulum lumenGO:00057889.7COL12A1, COL6A1, COL6A2, COL6A3
7proteinaceous extracellular matrixGO:00055789.0ADAMTS18, COL6A1, COL6A2, COL6A3, COL6A5
8protein complexGO:00432348.9CAPN3, COL6A1, COL6A2, DMD
9extracellular regionGO:00055768.2COL12A1, COL6A1, COL6A2, COL6A3, COL6A5, LAMA2
10extracellular matrixGO:00310128.0COL12A1, COL6A1, COL6A2, COL6A3, COL6A5, LAMA2
11sarcolemmaGO:00423837.7COL6A1, COL6A2, COL6A3, DMD, DYSF, LAMA2

Biological processes related to Bethlem Myopathy 1 according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1protein heterotrimerizationGO:007020810.4COL6A1, COL6A2
2endodermal cell differentiationGO:003598710.4COL12A1, COL6A1
3muscle cell cellular homeostasisGO:00467169.9CAPN3, DMD
4collagen catabolic processGO:00305749.3COL12A1, COL6A1, COL6A2, COL6A3, COL6A5
5extracellular matrix organizationGO:00301988.9COL6A1, COL6A2, COL6A3, LAMA2
6muscle organ developmentGO:00075178.2CAPN3, COL6A3, DMD, LAMA2, SGCG
7cell adhesionGO:00071558.2COL12A1, COL6A1, COL6A2, COL6A3, COL6A5, LAMA2

Molecular functions related to Bethlem Myopathy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:00083079.8CAPN3, DMD

Sources for Bethlem Myopathy 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet