BTHLM1
MCID: BTH005
MIFTS: 46

Bethlem Myopathy 1 (BTHLM1) malady

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

Aliases & Classifications for Bethlem Myopathy 1

Aliases & Descriptions for Bethlem Myopathy 1:

Name: Bethlem Myopathy 1 54 66 29
Bethlem Myopathy 12 50 24 56 66 29 13 52 14 69
Myopathy, Benign Congenital, with Contractures 50 66
Muscular Dystrophy, Benign Congenital 50 66
Benign Congenital Myopathy with Contractures 24
Benign Congenital Muscular Dystrophy 12
Benign Autosomal Dominant Myopathy 56
Bthlm1 66

Characteristics:

Orphanet epidemiological data:

56
bethlem myopathy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

HPO:

32

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 158810
Disease Ontology 12 DOID:0050663
Orphanet 56 ORPHA610
MESH via Orphanet 43 C535436
UMLS via Orphanet 70 C1834674
ICD10 via Orphanet 34 G71.0
MedGen 40 C1834674
MeSH 42 D009136

Summaries for Bethlem Myopathy 1

NIH Rare Diseases : 50 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 cachexia, joint stiffness and myopathy. An important gene associated with Bethlem Myopathy 1 is COL6A1 (Collagen Type VI Alpha 1 Chain), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. Related phenotypes are Increased gamma-H2AX phosphorylation and growth/size/body region

UniProtKB/Swiss-Prot : 66 Bethlem myopathy 1: A benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles.

Wikipedia : 71 Bethlem myopathy is an autosomal dominant myopathy, classified as a congenital form of muscular... more...

Description from OMIM: 158810

Related Diseases for Bethlem Myopathy 1

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 top 50) (show all 60)
id Related Disease Score Top Affiliating Genes
1 ullrich congenital muscular dystrophy 1 29.1 ADAMTS18 ANO5 CAPN3 COL12A1 COL6A1 COL6A2
2 bethlem myopathy 2 12.3
3 collagen vi-related myopathy 11.3
4 collagen vi related muscular dystrophy 11.1
5 ullrich congenital muscular dystrophy 2 10.9
6 ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 10.9
7 myopathy 10.7
8 muscular dystrophy 10.4
9 lumbar malsegmentation short stature 10.2 DMD DYSF
10 dfna2 nonsyndromic hearing loss 10.2 COL6A1 COL6A2 COL6A3
11 myelofibrosis 10.2 COL6A1 COL6A2 COL6A3
12 autosomal recessive nonsyndromic deafness 47 10.2 DMD LAMA2
13 cerebral hemorrhage 10.2 CAPN3 DYSF
14 cardiomyopathy, dilated, 1aa, with or without lvnc 10.1 DMD LAMA2
15 congenital heart defects, multiple types, 3 10.1 CAPN3 DYSF
16 autosomal dominant limb-girdle muscular dystrophy type 1c 10.1 CAPN3 DYSF
17 craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies 10.1 CAPN3 DYSF
18 asthma-related traits 6 10.1 CAPN3 DYSF
19 autosomal recessive limb-girdle muscular dystrophy type 2x 10.1 CAPN3 DYSF
20 cardiomyopathy, familial restrictive, 3 10.1 DMD LAMA2
21 neurodegeneration with brain iron accumulation 6 10.1 CAPN3 DYSF
22 autosomal recessive limb-girdle muscular dystrophy type 2w 10.1 CAPN3 DYSF
23 keloids 10.1
24 ehlers-danlos syndrome, kyphoscoliotic form 10.1 CAPN3 DYSF
25 sdhc-related paraganglioma and gastric stromal sarcoma 10.1 DMD DYSF
26 dermatofibrosarcoma protuberans 10.1 DMD LAMA2
27 arthrogryposis, distal, type 8 10.0 COL6A1 COL6A2 LMNA
28 pancreatic agenesis 1 10.0 CAPN3 DMD DYSF
29 cardiomyopathy, dilated, 1x 10.0 DMD LAMA2
30 inflammatory bowel disease 14 10.0 DMD DYSF
31 myopathy, distal, with anterior tibial onset 10.0 CAPN3 DMD DYSF
32 cubitus valgus with mental retardation and unusual facies 10.0 DMD LAMA2
33 vulvar eccrine adenocarcinoma 10.0 CAPN3 DMD DYSF
34 limb-girdle muscular dystrophy 10.0
35 ceroid lipofuscinosis, neuronal, 2 10.0 DMD DYSF
36 spindle cell sarcoma 10.0 COL6A1 COL6A2 COL6A3 DYSF
37 thrombocytopenia, x-linked 10.0 DMD DYSF LAMA2
38 adrenal cortex disease 10.0 ANO5 DYSF
39 deafness, autosomal recessive 18b 10.0 ANO5 DYSF
40 charcot-marie-tooth disease, type 2b2 10.0 CAPN3 DYSF LAMA2
41 microcephaly and chorioretinopathy 2 9.9 DMD DYSF LMNA
42 sudden infant death with dysgenesis of the testes syndrome 9.9 DMD LAMA2 LMNA
43 lipodystrophy, familial partial, 2 9.9 DMD LAMA2 LMNA
44 glycogen storage disease 0, muscle 9.9 DMD LAMA2 LMNA
45 malignant hyperthermia susceptibility 9.9 CAPN3 DYSF LMNA
46 parametrium malignant neoplasm 9.9 DMD LAMA2 LMNA
47 spinocerebellar ataxia 11 9.9 CAPN3 DYSF
48 muscular dystrophy, rigid spine, 1 9.9 COL6A2 DMD DYSF LAMA2
49 benign autosomal dominant myopathy 9.9
50 keloid formation 9.9

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



Diseases related to Bethlem Myopathy 1

Symptoms & Phenotypes for Bethlem Myopathy 1

Symptoms by clinical synopsis from OMIM:

158810

Clinical features from OMIM:

158810

Human phenotypes related to Bethlem Myopathy 1:

56 32 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cachexia 56 32 Very frequent (99-80%) HP:0004326
2 joint stiffness 56 32 Very frequent (99-80%) HP:0001387
3 myopathy 56 32 Very frequent (99-80%) HP:0003198
4 emg abnormality 56 32 Very frequent (99-80%) HP:0003457
5 camptodactyly of finger 56 32 Very frequent (99-80%) HP:0100490
6 torticollis 32 HP:0000473
7 neonatal hypotonia 32 HP:0001319
8 abnormality of the cardiovascular system 32 HP:0001626
9 respiratory insufficiency due to muscle weakness 32 HP:0002747
10 elevated serum creatine phosphokinase 32 HP:0003236
11 decreased fetal movement 32 HP:0001558
12 motor delay 32 HP:0001270
13 congenital muscular torticollis 32 HP:0005988
14 distal muscle weakness 32 HP:0002460
15 proximal muscle weakness 32 HP:0003701
16 elbow flexion contracture 32 HP:0002987
17 ankle contracture 32 HP:0006466
18 limb-girdle muscle weakness 32 HP:0003325

GenomeRNAi Phenotypes related to Bethlem Myopathy 1 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.17 LMNA ANO5 COL6A1 COL6A3 DMD DYSF

MGI Mouse Phenotypes related to Bethlem Myopathy 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.76 ADAMTS18 CAPN3 COL12A1 COL6A2 COL6A3 DMD
2 muscle MP:0005369 9.56 LAMA2 LMNA CAPN3 COL12A1 COL6A1 COL6A3
3 skeleton MP:0005390 9.1 ADAMTS18 COL12A1 COL6A3 DMD LAMA2 LMNA

Drugs & Therapeutics for Bethlem Myopathy 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Low Protein Diet in Patients With Collagen VI Related Myopathies Completed NCT01438788 Phase 2
2 The Effect of Aerobic Exercise, on Fitness and Functional Muscle Strength, in Patients With Muscular Dystrophy Completed NCT01895283
3 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Bethlem Myopathy 1

Genetic Tests for Bethlem Myopathy 1

Genetic tests related to Bethlem Myopathy 1:

id Genetic test Affiliating Genes
1 Bethlem Myopathy 1 29
2 Bethlem Myopathy 29 24

Anatomical Context for Bethlem Myopathy 1

Publications for Bethlem Myopathy 1

Variations for Bethlem Myopathy 1

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

66 (show all 25)
id Symbol AA change Variation ID SNP ID
1 COL6A1 p.Lys121Arg VAR_013580 rs121912936
2 COL6A1 p.Gly305Val VAR_013581
3 COL6A1 p.Gly341Asp VAR_013582 rs121912935
4 COL6A1 p.Ser116Asn VAR_058213 rs11553519
5 COL6A1 p.Gly272Asp VAR_058214
6 COL6A1 p.Pro274Leu VAR_058215 rs201093313
7 COL6A1 p.Gly275Arg VAR_058216
8 COL6A1 p.Gly290Arg VAR_058219 rs121912939
9 COL6A1 p.Gly341Val VAR_058221
10 COL6A1 p.Lys571Thr VAR_058222 rs751040647
11 COL6A2 p.Gly271Ser VAR_013589 rs121912940
12 COL6A2 p.Asp621Asn VAR_013590 rs267606750
13 COL6A2 p.Gly700Ser VAR_058231 rs794727418
14 COL6A2 p.Cys777Arg VAR_058233 rs267606747
15 COL6A2 p.Pro932Leu VAR_058241 rs117725825
16 COL6A3 p.Gly1679Glu VAR_001910 rs121434553
17 COL6A3 p.Lys1014Glu VAR_058248 rs114284669
18 COL6A3 p.Glu1386Lys VAR_058250 rs146092501
19 COL6A3 p.Asn1467Asp VAR_058252 rs138049094
20 COL6A3 p.Leu1726Arg VAR_058257 rs121434555
21 COL6A3 p.Val1985Met VAR_058258 rs200478135
22 COL6A3 p.Gly2047Asp VAR_058259
23 COL6A3 p.Gly2056Arg VAR_058260
24 COL6A3 p.Gly2080Asp VAR_058261 rs794727188
25 COL6A3 p.Ala2941Val VAR_058264 rs11903206

ClinVar genetic disease variations for Bethlem Myopathy 1:

6 (show top 50) (show all 77)
id Gene Variation Type Significance SNP ID Assembly Location
1 COL6A3 COL6A3, IVS15DS, GT-TC, +1 undetermined variant Pathogenic
2 COL6A3 NM_004369.3(COL6A3): c.5177T> G (p.Leu1726Arg) single nucleotide variant Pathogenic rs121434555 GRCh37 Chromosome 2, 238275653: 238275653
3 COL6A2 NM_001849.3(COL6A2): c.811G> A (p.Gly271Ser) single nucleotide variant Pathogenic rs121912940 GRCh37 Chromosome 21, 47535795: 47535795
4 COL6A2 NM_001849.3(COL6A2): c.1861G> A (p.Asp621Asn) single nucleotide variant Pathogenic rs267606750 GRCh37 Chromosome 21, 47545423: 47545423
5 COL6A2 COL6A2, IVS10AS, A-G, -2 single nucleotide variant Pathogenic
6 COL6A1 NM_001848.2(COL6A1): c.1577G> T (p.Gly526Val) single nucleotide variant Pathogenic rs121912934 GRCh37 Chromosome 21, 47418313: 47418313
7 COL6A1 COL6A1, IVS11AS, G-A, -1 single nucleotide variant Pathogenic
8 COL6A1 NM_001848.2(COL6A1): c.1003_1056del54 single nucleotide variant Pathogenic rs797044456 GRCh38 Chromosome 21, 45990828: 45990828
9 COL6A1 NM_001848.2(COL6A1): c.1022G> A (p.Gly341Asp) single nucleotide variant Pathogenic rs121912935 GRCh37 Chromosome 21, 47410706: 47410706
10 COL6A1 NM_001848.2(COL6A1): c.362A> G (p.Lys121Arg) single nucleotide variant Pathogenic rs121912936 GRCh37 Chromosome 21, 47404317: 47404317
11 COL6A1 NM_001848.2(COL6A1): c.1003_1056del54 single nucleotide variant Pathogenic rs398123631 GRCh37 Chromosome 21, 47410741: 47410741
12 COL6A1 COL6A1, IVS3DS, G-A, +1 single nucleotide variant Pathogenic
13 COL6A1 NM_001848.2(COL6A1): c.850G> A (p.Gly284Arg) single nucleotide variant Pathogenic rs121912938 GRCh37 Chromosome 21, 47409043: 47409043
14 COL6A2 NM_001849.3(COL6A2): c.1096C> T (p.Arg366Ter) single nucleotide variant Pathogenic rs387906609 GRCh37 Chromosome 21, 47537830: 47537830
15 COL6A2 NM_001849.3(COL6A2): c.2611G> A (p.Asp871Asn) single nucleotide variant Pathogenic/Likely pathogenic rs387906610 GRCh37 Chromosome 21, 47552017: 47552017
16 COL6A2 NM_001849.3(COL6A2): c.803G> A (p.Gly268Asp) single nucleotide variant Likely pathogenic rs397515333 GRCh37 Chromosome 21, 47535787: 47535787
17 COL6A1 NM_001848.2(COL6A1): c.805-2A> G single nucleotide variant Pathogenic rs398123639 GRCh37 Chromosome 21, 47408996: 47408996
18 COL6A1 NM_001848.2(COL6A1): c.868G> A (p.Gly290Arg) single nucleotide variant Pathogenic rs121912939 GRCh37 Chromosome 21, 47409531: 47409531
19 COL6A1 NM_001848.2(COL6A1): c.877G> A (p.Gly293Arg) single nucleotide variant Likely pathogenic rs398123643 GRCh37 Chromosome 21, 47409540: 47409540
20 COL6A1 NM_001848.2(COL6A1): c.896G> A (p.Gly299Glu) single nucleotide variant Likely pathogenic rs398123644 GRCh37 Chromosome 21, 47409559: 47409559
21 COL6A2 NM_001849.3(COL6A2): c.1461delA (p.Ser488Leufs) deletion Pathogenic rs398123645 GRCh37 Chromosome 21, 47541472: 47541472
22 COL6A2 NM_001849.3(COL6A2): c.1522-1G> A single nucleotide variant Pathogenic rs398123646 GRCh37 Chromosome 21, 47542021: 47542021
23 COL6A2 NM_001849.3(COL6A2): c.855+2T> G single nucleotide variant Pathogenic rs113525292 GRCh37 Chromosome 21, 47535841: 47535841
24 COL6A3 NM_004369.3(COL6A3): c.175C> T (p.Arg59Ter) single nucleotide variant Pathogenic rs398124119 GRCh37 Chromosome 2, 238303764: 238303764
25 COL6A3 NM_004369.3(COL6A3): c.6210+1G> A single nucleotide variant Pathogenic rs398124126 GRCh37 Chromosome 2, 238269763: 238269763
26 COL6A3 NM_004369.3(COL6A3): c.6282+1G> A single nucleotide variant Pathogenic rs398124128 GRCh37 Chromosome 2, 238268730: 238268730
27 COL6A1 NM_001848.2(COL6A1): c.904G> C (p.Gly302Arg) single nucleotide variant Pathogenic rs794727028 GRCh37 Chromosome 21, 47409666: 47409666
28 COL6A1 NM_001848.2(COL6A1): c.957+2T> C single nucleotide variant Pathogenic rs794727060 GRCh37 Chromosome 21, 47410200: 47410200
29 COL6A3 NM_004369.3(COL6A3): c.6239G> A (p.Gly2080Asp) single nucleotide variant Pathogenic rs794727188 GRCh37 Chromosome 2, 238268774: 238268774
30 COL6A3 NM_004369.3(COL6A3): c.6293G> T (p.Gly2098Val) single nucleotide variant Pathogenic rs794727206 GRCh37 Chromosome 2, 238268021: 238268021
31 COL6A2 NM_001849.3(COL6A2): c.801+1G> A single nucleotide variant Pathogenic rs794727715 GRCh37 Chromosome 21, 47533988: 47533988
32 COL6A2 NM_001849.3(COL6A2): c.812G> A (p.Gly271Asp) single nucleotide variant Pathogenic rs794727788 GRCh37 Chromosome 21, 47535796: 47535796
33 COL6A2 NM_001849.3(COL6A2): c.875G> T (p.Gly292Val) single nucleotide variant Pathogenic rs794727855 GRCh37 Chromosome 21, 47535942: 47535942
34 COL6A3 NM_004369.3(COL6A3): c.6283-2A> C single nucleotide variant Likely pathogenic rs797044988 GRCh37 Chromosome 2, 238268033: 238268033
35 COL6A2 NM_001849.3(COL6A2): c.2096G> A (p.Gly699Asp) single nucleotide variant Likely pathogenic rs863224861 GRCh38 Chromosome 21, 46125911: 46125911
36 COL6A3 NM_004369.3(COL6A3): c.7264C> T (p.Arg2422Ter) single nucleotide variant Likely pathogenic rs878854379 GRCh37 Chromosome 2, 238253397: 238253397
37 COL6A2 NM_001849.3(COL6A2): c.954G> T (p.Lys318Asn) single nucleotide variant Likely pathogenic rs878854362 GRCh37 Chromosome 21, 47536591: 47536591
38 COL6A1 NM_001848.2(COL6A1): c.931-1G> A single nucleotide variant Pathogenic rs886042354 GRCh37 Chromosome 21, 47410171: 47410171
39 COL6A3 NM_004369.3(COL6A3): c.5010T> A (p.Tyr1670Ter) single nucleotide variant Pathogenic rs886042402 GRCh37 Chromosome 2, 238275820: 238275820
40 COL6A1 NM_001848.2(COL6A1): c.1022G> T (p.Gly341Val) single nucleotide variant Pathogenic rs121912935 GRCh37 Chromosome 21, 47410706: 47410706
41 COL6A3 NM_004369.3(COL6A3): c.4124delA (p.Gln1375Argfs) deletion Pathogenic rs886042447 GRCh37 Chromosome 2, 238280536: 238280536
42 COL6A2 NM_001849.3(COL6A2): c.920G> T (p.Gly307Val) single nucleotide variant Likely pathogenic rs886042541 GRCh37 Chromosome 21, 47536310: 47536310
43 COL6A3 NM_004369.3(COL6A3): c.7796_7797delTT (p.Phe2599Trpfs) deletion Pathogenic rs886042623 GRCh37 Chromosome 2, 238249762: 238249763
44 COL6A1 NM_001848.2(COL6A1): c.1075_1076delGGinsAA (p.Gly359Asn) indel Likely pathogenic rs886042646 GRCh37 Chromosome 21, 47410911: 47410912
45 COL6A1 NM_001848.2(COL6A1): c.914G> A (p.Gly305Glu) single nucleotide variant Likely pathogenic rs886042684 GRCh37 Chromosome 21, 47409676: 47409676
46 COL6A1 NM_001848.2(COL6A1): c.1603G> A (p.Gly535Arg) single nucleotide variant Likely pathogenic rs764556767 GRCh37 Chromosome 21, 47418339: 47418339
47 COL6A2 NM_001849.3(COL6A2): c.901G> A (p.Gly301Ser) single nucleotide variant Pathogenic rs886042705 GRCh37 Chromosome 21, 47536291: 47536291
48 COL6A1 NM_001848.2(COL6A1): c.1611+1G> A single nucleotide variant Pathogenic rs886042748 GRCh37 Chromosome 21, 47418348: 47418348
49 COL6A1 NM_001848.2(COL6A1): c.805G> A (p.Gly269Arg) single nucleotide variant Likely pathogenic rs886042856 GRCh37 Chromosome 21, 47408998: 47408998
50 COL6A2 NM_001849.3(COL6A2): c.857G> T (p.Gly286Val) single nucleotide variant Likely pathogenic rs727502827 GRCh37 Chromosome 21, 47535924: 47535924

Copy number variations for Bethlem Myopathy 1 from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 42157 10 29600000 38000000 Dul ITGB1 Bethlem myopathy

Expression for Bethlem Myopathy 1

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

Pathways for Bethlem Myopathy 1

Pathways related to Bethlem Myopathy 1 according to GeneCards Suite gene sharing:

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 CAPN3 COL12A1 COL6A1 COL6A2 COL6A3 LAMA2
2
Show member pathways
12.75 COL12A1 COL6A1 COL6A2 COL6A3 LAMA2
3
Show member pathways
12.52 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5
4
Show member pathways
12.5 CAPN3 COL6A1 COL6A2 COL6A3 COL6A5 LAMA2
5 12.25 COL6A1 COL6A2 COL6A3 COL6A5 LAMA2
6
Show member pathways
12.14 CAPN3 DMD LAMA2 LMNA
7
Show member pathways
11.93 ADAMTS18 CAPN3 COL12A1 COL6A1 COL6A2 COL6A3
8
Show member pathways
11.92 DMD LAMA2 LMNA
9
Show member pathways
11.73 COL6A1 COL6A2 COL6A3 COL6A5 LAMA2
10 11.18 COL6A1 COL6A2 COL6A3
11 10.82 COL6A1 COL6A2 COL6A3 COL6A5
12 10.77 DMD LAMA2

GO Terms for Bethlem Myopathy 1

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.98 ADAMTS18 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5
2 protein complex GO:0043234 9.76 CAPN3 COL6A1 COL6A2 DMD
3 endoplasmic reticulum lumen GO:0005788 9.71 COL12A1 COL6A1 COL6A2 COL6A3
4 proteinaceous extracellular matrix GO:0005578 9.7 ADAMTS18 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5
5 collagen trimer GO:0005581 9.65 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5
6 extracellular vesicle GO:1903561 9.54 COL12A1 COL6A2 COL6A3
7 myofibril GO:0030016 9.49 CAPN3 DMD
8 T-tubule GO:0030315 9.48 CAPN3 DYSF
9 sarcolemma GO:0042383 9.43 COL6A1 COL6A2 COL6A3 DMD DYSF LAMA2
10 collagen type VI trimer GO:0005589 9.32 COL6A1 COL6A3
11 extracellular matrix GO:0031012 9.23 ADAMTS18 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5

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

id Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.63 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5 LAMA2
2 extracellular matrix organization GO:0030198 9.56 COL6A1 COL6A2 COL6A3 LAMA2
3 endodermal cell differentiation GO:0035987 9.4 COL12A1 COL6A1
4 muscle cell cellular homeostasis GO:0046716 9.37 CAPN3 DMD
5 protein heterotrimerization GO:0070208 9.32 COL6A1 COL6A2
6 muscle organ development GO:0007517 9.26 CAPN3 COL6A3 DMD LAMA2
7 collagen catabolic process GO:0030574 9.02 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5

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

id Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 8.62 CAPN3 DMD

Sources for Bethlem Myopathy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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38 LifeMap
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42 MeSH
43 MESH via Orphanet
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65 SNOMED-CT via Orphanet
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70 UMLS via Orphanet
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