| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.100 | GeneticVariation | CLINVAR | Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation. | 28654857 | 2017 |
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0.100 | CausalMutation | CLINVAR | Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation. | 28654857 | 2017 |
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0.100 | GeneticVariation | CLINVAR | Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. | 26138355 | 2016 |
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0.100 | CausalMutation | CLINVAR | The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. | 26986877 | 2016 |
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0.100 | CausalMutation | CLINVAR | Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. | 26138355 | 2016 |
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|
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0.100 | GeneticVariation | CLINVAR | The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. | 26986877 | 2016 |
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|
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0.100 | GeneticVariation | CLINVAR | Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. | 25877686 | 2015 |
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0.100 | CausalMutation | CLINVAR | Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. | 25877686 | 2015 |
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|
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0.100 | CausalMutation | CLINVAR | NR2F1 mutations cause optic atrophy with intellectual disability. | 24462372 | 2014 |
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0.100 | GeneticVariation | CLINVAR | NR2F1 mutations cause optic atrophy with intellectual disability. | 24462372 | 2014 |
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0.100 | CausalMutation | CLINVAR | The genetic landscape of infantile spasms. | 24781210 | 2014 |
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0.100 | GeneticVariation | CLINVAR | The genetic landscape of infantile spasms. | 24781210 | 2014 |
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0.100 | CausalMutation | CLINVAR | NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay. | 23300014 | 2013 |
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0.100 | GeneticVariation | CLINVAR | NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay. | 23300014 | 2013 |
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0.100 | GeneticVariation | CLINVAR | COUP-TFs regulate eye development by controlling factors essential for optic vesicle morphogenesis. | 20147377 | 2010 |
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0.100 | CausalMutation | CLINVAR | COUP-TFs regulate eye development by controlling factors essential for optic vesicle morphogenesis. | 20147377 | 2010 |
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0.100 | CausalMutation | CLINVAR | The spatial patterning of mouse cone opsin expression is regulated by bone morphogenetic protein signaling through downstream effector COUP-TF nuclear receptors. | 19812316 | 2009 |
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0.100 | GeneticVariation | CLINVAR | The spatial patterning of mouse cone opsin expression is regulated by bone morphogenetic protein signaling through downstream effector COUP-TF nuclear receptors. | 19812316 | 2009 |
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|
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0.100 | GeneticVariation | CLINVAR | The nuclear orphan receptor COUP-TFI is important for differentiation of oligodendrocytes. | 14738874 | 2004 |
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0.100 | CausalMutation | CLINVAR | The nuclear orphan receptor COUP-TFI is important for differentiation of oligodendrocytes. | 14738874 | 2004 |
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0.100 | GeneticVariation | CLINVAR | COUP-TFI: an intrinsic factor for early regionalization of the neocortex. | 11511537 | 2001 |
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0.100 | CausalMutation | CLINVAR | COUP-TFI: an intrinsic factor for early regionalization of the neocortex. | 11511537 | 2001 |
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0.100 | CausalMutation | CLINVAR | The nuclear orphan receptor COUP-TFI is required for differentiation of subplate neurons and guidance of thalamocortical axons. | 10624948 | 1999 |
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0.100 | GeneticVariation | CLINVAR | The nuclear orphan receptor COUP-TFI is required for differentiation of subplate neurons and guidance of thalamocortical axons. | 10624948 | 1999 |