Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.700 | GeneticVariation | UNIPROT | Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. | 23519317 | 2013 |
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0.700 | GeneticVariation | UNIPROT | Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex. | 22161988 | 2012 |
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0.700 | GeneticVariation | UNIPROT | Missense mutations to the TSC1 gene cause tuberous sclerosis complex. | 18830229 | 2009 |
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0.700 | GeneticVariation | UNIPROT | Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis. | 11829138 | 2002 |
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0.700 | GeneticVariation | UNIPROT | Tuberous sclerosis type 1: three novel mutations detected in exon 15 by a combination of HDA and TGGE. | 10874311 | 2000 |
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|
0.700 | GeneticVariation | UNIPROT | Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations. | 10533069 | 1999 |
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|
0.700 | GeneticVariation | UNIPROT | Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex. | 10570911 | 1999 |
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0.700 | GeneticVariation | UNIPROT | Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation. | 10227394 | 1999 |
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0.700 | GeneticVariation | UNIPROT | Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. | 9328481 | 1997 |