Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder), C0410173
Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. | 27708273 | 2017 |
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|
A | 0.700 | GeneticVariation | CLINVAR | A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics. | 25802879 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics. | 25802879 | 2015 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Puerto Rican founder mutation G787A in the SGCG gene: a case report of 2 siblings with LGMD 2C. | 24534832 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | Puerto Rican founder mutation G787A in the SGCG gene: a case report of 2 siblings with LGMD 2C. | 24534832 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. | 22095924 | 2012 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. | 22095924 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | Revised spectrum of mutations in sarcoglycanopathies. | 18285821 | 2008 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Revised spectrum of mutations in sarcoglycanopathies. | 18285821 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | A novel mutation in two families with limb-girdle muscular dystrophy type 2C. | 16832103 | 2006 |
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|
A | 0.700 | GeneticVariation | CLINVAR | A novel mutation in two families with limb-girdle muscular dystrophy type 2C. | 16832103 | 2006 |