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 | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. | 30345904 | 2018 |
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0.700 | GeneticVariation | UNIPROT | Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion. | 10714584 | 2000 |
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0.700 | GeneticVariation | UNIPROT | A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India. | 8968757 | 1996 |