NOTCH2, notch receptor 2, 4853
N. diseases: 384; N. variants: 30
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 | End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome. | 27312922 | 2016 | ||||||
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TG | 0.700 | CausalMutation | CLINVAR | End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome. | 27312922 | 2016 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. | 21378989 | 2011 | ||||||
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TG | 0.700 | CausalMutation | CLINVAR | Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. | 21378989 | 2011 | ||||||
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TG | 0.700 | CausalMutation | CLINVAR | Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. | 21378985 | 2011 | ||||||
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TG | 0.700 | CausalMutation | CLINVAR | PEST sequences and regulation by proteolysis. | 8755249 | 1996 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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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 |