Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
0.440 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.440 | CausalMutation | CLINVAR | Genomic analysis of primordial dwarfism reveals novel disease genes. | 24389050 | 2014 |
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|
|
0.150 | CausalMutation | CLINVAR | |||||||||||
|
|
0.110 | CausalMutation | CLINVAR | Genomic analysis of primordial dwarfism reveals novel disease genes. | 24389050 | 2014 |
||||||||
|
|
0.110 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | Extreme growth failure is a common presentation of ligase IV deficiency. | 24123394 | 2014 |
||||||||
|
|
0.100 | CausalMutation | CLINVAR | DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. | 11779494 | 2001 |
||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.610 | Biomarker | HPO | |||||||||||
|
|
0.450 | Biomarker | HPO | |||||||||||
|
|
0.440 | Biomarker | HPO | |||||||||||
|
|
0.420 | Biomarker | HPO | |||||||||||
|
|
0.420 | Biomarker | HPO | |||||||||||
|
|
0.410 | Biomarker | HPO | |||||||||||
|
|
0.410 | Biomarker | HPO | |||||||||||
|
|
0.410 | Biomarker | HPO | |||||||||||
|
|
0.410 | Biomarker | HPO | |||||||||||
|
|
0.410 | Biomarker | HPO | |||||||||||
|
|
0.410 | Biomarker | HPO | |||||||||||
|
|
0.410 | Biomarker | HPO | |||||||||||
|
|
0.400 | Biomarker | HPO | |||||||||||
|
|
0.400 | Biomarker | HPO | |||||||||||
|
|
0.400 | Biomarker | HPO |