| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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0.400 | CausalMutation | CLINVAR | Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. | 29571850 | 2018 |
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0.100 | GeneticVariation | CLINVAR | A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity. | 28891236 | 2017 |
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|
|
0.100 | CausalMutation | CLINVAR | Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. | 27108799 | 2016 |
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|
|
0.100 | CausalMutation | CLINVAR | SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. | 26626314 | 2016 |
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|
|
0.100 | CausalMutation | CLINVAR | Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. | 26350204 | 2015 |
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|
|
0.100 | GeneticVariation | CLINVAR | Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. | 25256811 | 2014 |
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|
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0.100 | GeneticVariation | CLINVAR | Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. | 24785942 | 2014 |
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|
|
0.100 | GeneticVariation | CLINVAR | Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. | 23422942 | 2013 |
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0.100 | CausalMutation | CLINVAR | Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. | 22426309 | 2012 |
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|
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0.100 | CausalMutation | CLINVAR | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 17603483 | 2007 |
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|
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0.100 | CausalMutation | CLINVAR | Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | 17603482 | 2007 |
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|
|
0.440 | Biomarker | HPO | |||||||||||
|
|
0.440 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.410 | Biomarker | HPO | |||||||||||
|
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0.410 | Biomarker | HPO | |||||||||||
|
|
0.400 | Biomarker | HPO | |||||||||||
|
|
0.200 | Biomarker | HPO | |||||||||||
|
|
0.140 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.140 | Biomarker | HPO | |||||||||||
|
|
0.140 | Biomarker | HPO | |||||||||||
|
|
0.140 | Biomarker | HPO | |||||||||||
|
|
0.140 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.130 | Biomarker | HPO | |||||||||||
|
|
0.120 | Biomarker | HPO | |||||||||||
|
|
0.120 | Biomarker | HPO |