| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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A | 0.700 | GeneticVariation | CLINVAR | Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping. | 27102954 | 2017 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping. | 27102954 | 2017 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Whole-exome sequencing identified three linked homozygous missense variants in THOC6 (c.298T>A, p.Trp100Arg; c.700G>C, p.Val234Leu; c.824G>A, p.Gly275Asp) as the likely cause of this child's intellectual disability syndrome, resulting in a molecular diagnosis of Beaulieu-Boycott-Innes syndrome (BBIS). | 27295358 | 2016 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Confirming the candidacy of THOC6 in the etiology of intellectual disability. | 26739162 | 2016 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Confirming the candidacy of THOC6 in the etiology of intellectual disability. | 26739162 | 2016 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Intellectual disability associated with a homozygous missense mutation in THOC6. | 23621916 | 2013 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Intellectual disability associated with a homozygous missense mutation in THOC6. | 23621916 | 2013 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population. | 20503307 | 2010 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population. | 20503307 | 2010 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Nuclear localization of the pre-mRNA associating protein THOC7 depends upon its direct interaction with Fms tyrosine kinase interacting protein (FMIP). | 19059247 | 2009 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Nuclear localization of the pre-mRNA associating protein THOC7 depends upon its direct interaction with Fms tyrosine kinase interacting protein (FMIP). | 19059247 | 2009 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Recruitment of the human TREX complex to mRNA during splicing. | 15998806 | 2005 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Recruitment of the human TREX complex to mRNA during splicing. | 15998806 | 2005 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | A protein complex containing Tho2, Hpr1, Mft1 and a novel protein, Thp2, connects transcription elongation with mitotic recombination in Saccharomyces cerevisiae. | 11060033 | 2000 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | A protein complex containing Tho2, Hpr1, Mft1 and a novel protein, Thp2, connects transcription elongation with mitotic recombination in Saccharomyces cerevisiae. | 11060033 | 2000 | ||||||
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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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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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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR |