Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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4620
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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Myosin heavy chain 2 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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MYH2 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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CMYO6, CMYP6, IBM3, MYH2A, MYHSA2, MYHas8, MYPOP, MyHC-2A, MyHC-IIa |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
CMYO6 |
Chromosome
Chromosome number
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17 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
17p13.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Myopathy |
Myopathy |
rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338 View all (81 more) |
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Myopathy with external ophthalmoplegia |
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia |
rs1555787058 |
|
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Congenital contracture |
Congenital contracture |
|
|
ClinVar |
Inclusion body myopathy |
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT |
|
11114175, 23388406, 22349865, 24193343, 20418530 |
ClinVar |
Hereditary Inclusion Body Myopathy-Joint Contractures-Ophthalmoplegia Syndrome |
hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome |
|
|
GenCC |
Myopathy With External Ophthalmoplegia |
childhood-onset autosomal recessive myopathy with external ophthalmoplegia |
|
|
GenCC |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Amyotrophic Lateral Sclerosis |
Associate
|
32792518 |
Carcinoma Hepatocellular |
Associate
|
22272636 |
Cerebral Palsy |
Associate
|
21882064 |
Clubfoot |
Associate
|
20357587 |
Colorectal Neoplasms |
Associate
|
32351322 |
Continuous Muscle Fiber Activity Hereditary |
Associate
|
22349865 |
Contracture |
Associate
|
20357587 |
Cryptorchidism |
Inhibit
|
22906643 |
Cystinosis |
Associate
|
30519981 |
Deglutition Disorders |
Associate
|
23489661 |
Distal Myopathies |
Associate
|
25529940 |
Distal myopathy Nonaka type |
Associate
|
29934118 |
Frontotemporal Dementia |
Associate
|
32792518 |
Hodgkin Disease |
Associate
|
33885377 |
Inflammation |
Associate
|
32986378 |
Muscle Weakness |
Associate
|
17005402, 24193343, 29934118, 32578970, 33926564, 36380287 |
Muscular Diseases |
Associate
|
17005402, 23489661, 24193343, 25529940, 29934118, 32578970, 33926564, 36380287, 36745529, 37457373, 39372444 |
Myopathies Nemaline |
Associate
|
33926564 |
Myopathies Structural Congenital |
Associate
|
32578970 |
Myopathy Myosin Storage |
Associate
|
23489661, 24193343, 36380287 |
Myositis Inclusion Body |
Associate
|
22349865 |
Myotonia Congenita |
Associate
|
23489661, 25529940, 33926564 |
Nasopharyngeal Carcinoma |
Associate
|
32986378 |
Nasopharyngitis |
Associate
|
32986378 |
Neoplasms |
Associate
|
37340028, 39656775 |
Oculopharyngodistal Myopathy |
Associate
|
25529940 |
Ophthalmoplegia |
Associate
|
23489661, 24193343, 25529940, 29934118, 32578970, 33926564 |
Osteoarthritis |
Inhibit
|
25810256 |
Osteogenesis imperfecta type 2A |
Associate
|
24193343 |
Ptosis Hereditary Congenital 2 |
Associate
|
32578970 |
Respiratory Distress Syndrome |
Associate
|
23489661 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
37340028, 37679666 |
Systemic Inflammatory Response Syndrome |
Associate
|
31016887 |
Tremor |
Associate
|
39372444 |
|