TP63, tumor protein p63, 8626
N. diseases: 816; N. variants: 64
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 | Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. | 11159940 | 2001 | |||||||
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0.800 | GeneticVariation | UNIPROT | Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. | 11159940 | 2001 | |||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.710 | GeneticVariation | BEFREE | In addition, we evaluated the conformation and the interaction with Itch-WW2 of a site specific mutant of p63, I549T, that has been reported in both Hay-Wells syndrome and Rapp-Hodgkin syndrome. | 20855944 | 2010 | |||||||
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C | 0.710 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 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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0.020 | GeneticVariation | BEFREE | Here, we report the generation of a knock-in mouse model for AEC syndrome (p63(+/L514F) ) that recapitulates the human disorder. | 22247000 | 2012 | |||||||
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0.020 | GeneticVariation | BEFREE | To further investigate the molecular mechanisms associated with AEC syndrome we established the cellular model for this disorder by stable introduction of mutated allele [L514F] of p63alpha into immortalized keratinocyte cells. | 16177572 | 2005 |