CRB1, crumbs cell polarity complex component 1, 23418
N. diseases: 116; N. variants: 111
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. | 30718709 | 2019 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. | 20591486 | 2010 | ||||||
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TG | 0.700 | CausalMutation | CLINVAR | An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy. | 18055820 | 2007 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). | 10508521 | 1999 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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CCTTA | 0.700 | GeneticVariation | CLINVAR | |||||||||
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CA | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR |