Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
0.700 | CausalMutation | CLINVAR | |||||||||||
|
|
0.700 | Biomarker | HPO | |||||||||||
|
|
0.700 | Biomarker | HPO | |||||||||||
|
|
0.700 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.490 | Biomarker | HPO | |||||||||||
|
|
0.450 | Biomarker | HPO | |||||||||||
|
|
0.440 | Biomarker | HPO | |||||||||||
|
|
0.430 | Biomarker | HPO | |||||||||||
|
|
0.420 | Biomarker | HPO | |||||||||||
|
|
0.410 | Biomarker | HPO | |||||||||||
|
|
0.410 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.410 | Biomarker | HPO | |||||||||||
|
|
0.410 | Biomarker | HPO | |||||||||||
|
|
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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|
|
0.400 | Biomarker | HPO | |||||||||||
|
|
0.400 | Biomarker | HPO | |||||||||||
|
|
0.400 | Biomarker | HPO | |||||||||||
|
|
0.400 | Biomarker | HPO | |||||||||||
|
|
0.400 | Biomarker | HPO | |||||||||||
|
|
0.400 | Biomarker | HPO | |||||||||||
|
|
0.400 | Biomarker | HPO | |||||||||||
|
|
0.300 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.300 | Biomarker | HPO | |||||||||||
|
|
0.300 | Biomarker | HPO | |||||||||||
|
|
0.200 | CausalMutation | CLINVAR | The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy. | 25182139 | 2015 |