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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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4604
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Myosin binding protein C1 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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MYBPC1 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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CMYO16, CMYP16, LCCS4, MYBPCC, MYBPCS, MYOTREM, ssMyBP-C |
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Chromosome
Chromosome number
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12 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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12q23.2 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skel |
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Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
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| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Breast Cancer |
Breast cancer |
N/A |
N/A |
GWAS |
| Congenital contracture |
lethal congenital contracture syndrome 3 |
N/A |
N/A |
GenCC |
| Digitotalar Dysmorphism |
digitotalar dysmorphism |
N/A |
N/A |
GenCC |
| Lethal Congenital Contracture Syndrome |
lethal congenital contracture syndrome 4 |
N/A |
N/A |
ClinVar |
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