ERCC5, ERCC excision repair 5, endonuclease, 2073
N. diseases: 238; N. variants: 38
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. | 7951246 | 1994 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. | 7951246 | 1994 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. | 7951246 | 1994 | |||||||
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0.710 | GeneticVariation | UNIPROT | Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. | 7951246 | 1994 | |||||||
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0.700 | GeneticVariation | UNIPROT | Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. | 7951246 | 1994 | |||||||
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0.700 | GeneticVariation | UNIPROT | Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. | 7951246 | 1994 | |||||||
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0.800 | GeneticVariation | UNIPROT | A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. | 9096355 | 1997 | |||||||
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0.800 | GeneticVariation | UNIPROT | A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. | 9096355 | 1997 | |||||||
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0.800 | GeneticVariation | UNIPROT | A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. | 9096355 | 1997 | |||||||
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0.710 | GeneticVariation | UNIPROT | A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. | 9096355 | 1997 | |||||||
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0.700 | GeneticVariation | UNIPROT | A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. | 9096355 | 1997 | |||||||
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0.700 | GeneticVariation | UNIPROT | A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. | 9096355 | 1997 | |||||||
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0.800 | GeneticVariation | UNIPROT | A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. | 10447254 | 1999 | |||||||
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0.800 | GeneticVariation | UNIPROT | A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. | 10447254 | 1999 | |||||||
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0.800 | GeneticVariation | UNIPROT | A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. | 10447254 | 1999 |