Table 2 Sample records from our dataset used to create the hypergraphs. It is a part of the original dataset encompassing disease name, OrphaID associated with it, HPO ID of the various phenotypes along with the specific HPO Name and the list of causal genes associated with the phenotypes.
From: A Hypergraph powered approach to Phenotype-driven Gene Prioritization and Rare Disease Prediction
Disease | OrphaID | HPO ID | HPO name | Gene |
|---|---|---|---|---|
Spinocerebellar ataxia type 8 | 98760 | HP:0025142 | Constitutional symptom | ATXN8OS |
Spinocerebellar ataxia type 8 | 98760 | HP:0002495 | Impaired vibratory sensation | ATXN8OS |
Pseudotumor cerebri | 238624 | HP:0100240 | Synostosis of joints | CYP26B1 |
Burkitt lymphoma | 543 | HP:0002250 | Abnormal large intestine morphology | CEACAM6 |
Machado-Joseph disease | 98757 | HP:0000298 | Mask-like facies | ATXN8OS |
Xanthinuria | 93601 | HP:0002644 | Abnormal pelvic girdle bone morphology | NANS |
Pancreatitis | 676 | HP:0001159 | Syndactyly | MAPK1 |
