| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.010 | GeneticVariation | BEFREE | We now show compound heterozygous mutations, Phe361fsX379 and Trp340Arg, in the zinc metalloproteinase (ZMPSTE24) gene in one of the four patients who had severe MAD associated with progeroid appearance and generalized lipodystrophy. | 12913070 | 2003 | |||||||
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0.010 | GeneticVariation | BEFREE | We now show compound heterozygous mutations, Phe361fsX379 and Trp340Arg, in the zinc metalloproteinase (ZMPSTE24) gene in one of the four patients who had severe MAD associated with progeroid appearance and generalized lipodystrophy. | 12913070 | 2003 | |||||||
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0.010 | GeneticVariation | BEFREE | We now report novel compound heterozygous mutations in exon 1 (c.121C>T; p.Q41X) and exon 6 (c.743C>T; p.P248L) in ZMPSTE24 in two Japanese sisters, 7- and 3-year old, with severe MAD and characteristic facies and atrophic skin. | 18435794 | 2008 | |||||||
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0.010 | GeneticVariation | BEFREE | We now report novel compound heterozygous mutations in exon 1 (c.121C>T; p.Q41X) and exon 6 (c.743C>T; p.P248L) in ZMPSTE24 in two Japanese sisters, 7- and 3-year old, with severe MAD and characteristic facies and atrophic skin. | 18435794 | 2008 | |||||||
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0.010 | GeneticVariation | BEFREE | We now report novel compound heterozygous mutations in exon 1 (c.121C>T; p.Q41X) and exon 6 (c.743C>T; p.P248L) in ZMPSTE24 in two Japanese sisters, 7- and 3-year old, with severe MAD and characteristic facies and atrophic skin. | 18435794 | 2008 | |||||||
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0.010 | GeneticVariation | BEFREE | We now report novel compound heterozygous mutations in exon 1 (c.121C>T; p.Q41X) and exon 6 (c.743C>T; p.P248L) in ZMPSTE24 in two Japanese sisters, 7- and 3-year old, with severe MAD and characteristic facies and atrophic skin. | 18435794 | 2008 | |||||||
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0.010 | GeneticVariation | BEFREE | We now report a 37-year-old Australian man with MAD who also had compound heterozygous mutations in the ZMPSTE24 gene, a null mutation, Phe361fsX379, and a missense mutation, Asn265Ser, which is partially active in the yeast complementation assay. | 17152860 | 2006 | |||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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GT | 0.700 | CausalMutation | CLINVAR | |||||||||
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GT | 0.700 | CausalMutation | CLINVAR | |||||||||
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GT | 0.700 | CausalMutation | CLINVAR | |||||||||
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GT | 0.700 | CausalMutation | CLINVAR | |||||||||
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GT | 0.700 | CausalMutation | CLINVAR | |||||||||
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GT | 0.700 | CausalMutation | CLINVAR | |||||||||
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GT | 0.700 | CausalMutation | CLINVAR | |||||||||
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GT | 0.700 | CausalMutation | CLINVAR | |||||||||
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GT | 0.700 | CausalMutation | CLINVAR | |||||||||
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GT | 0.700 | CausalMutation | CLINVAR | |||||||||
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GT | 0.700 | CausalMutation | CLINVAR | |||||||||
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GT | 0.700 | CausalMutation | CLINVAR | |||||||||
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GT | 0.700 | CausalMutation | CLINVAR | |||||||||
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GT | 0.700 | CausalMutation | CLINVAR | |||||||||
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GT | 0.700 | CausalMutation | CLINVAR |