RB1, RB transcriptional corepressor 1, 5925
N. diseases: 339; N. variants: 239
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.800 | GeneticVariation | UNIPROT | Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. | 18297072 | 2008 | |||||||
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0.800 | GeneticVariation | UNIPROT | Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. | 18297072 | 2008 | |||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis. | 25119526 | 2014 | ||||||
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0.700 | GeneticVariation | UNIPROT | Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. | 18297072 | 2008 | |||||||
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T | 0.700 | GeneticVariation | CLINVAR | Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). | 18461368 | 2008 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR |