Table 2.
The gene with the highest IthaScore for each phenotype. “Phenotype ID” column indicates the identifier assigned to each phenotype throughout this work.
| Phenotype ID | Phenotypic Term | HPO ID | Gene/Intergenic Region | IthaScore |
|---|---|---|---|---|
| 2 | Hb F levels | HP:0011904 | BCL11A | 0.8750 |
| 28 | Bilirubin levels | − | UGT1A1 | 0.4397 |
| 10 | F-cell numbers | − | HBS1L-MYB | 0.3169 |
| 5 | Ineffective erythropoiesis | HP:0010972 | AHSP, SOX6 | 0.3000 |
| 4 | Anaemia | HP:0001903 | CCND3 | 0.2938 |
| 11 | Globin gene regulation | − | SIRT1 | 0.2500 |
| 9 | Hb F response to hydroxyurea | − | HBG2 | 0.2188 |
| 7 | Focal segmental glomerulosclerosis | HP:0000097 | APOL1 | 0.2175 |
| 24 | Response to Hepatitis C treatment | − | IFNL3 | 0.2175 |
| 16 | Abnormal platelet count | HP:0011873 | HBS1L-MYB | 0.1997 |
| 29 | Gallstones | HP:0001081 | UGT1A1 | 0.1663 |
| 14 | Acute chest syndrome | − | EDN1 | 0.1450 |
| 23 | Vaso-occlusive crisis | − | HMOX1 | 0.1413 |
| 6 | Osteonecrosis/Avascular necrosis | HP:0010885 | KL | 0.1413 |
| 3 | Stroke | HP:0001297 | ENPP1 | 0.1350 |
| 22 | Increased serum ferritin | HP:0003281 | HFE | 0.1350 |
| 8 | Proteinuria | HP:0000093 | MYH9 | 0.1325 |
| 19 | Abnormal serum iron concentration | HP:0040130 | GDF15 | 0.1250 |
| 18 | Pain | HP:0012531 | GCH1 | 0.1184 |
| 17 | Left ventricular diastolic dysfunction | HP:0025168 | FUCA2 | 0.1100 |
| 1 | Abnormal red blood cell count | HP:0020058 | ABO, CCND3, PRKCE, PARP11-CCND2 | 0.1038 |
| 13 | Abnormal white blood cell count | HP:0011893 | CDK6, LY6G5C, PNPLA3, PSMD3-CSF3 | 0.1038 |
| 20 | Hyperuricemia | HP:0002149 | HBG1-HBG2 | 0.1038 |
| 21 | Abnormal hematocrit | HP:0031850 | HBS1L-MYB, PDGFRA-KIT |
0.1038 |
| 25 | Increased Hb A2 levels | HP:0045048 | LCRB | 0.1038 |
| 27 | Haemolytic anaemia | HP:0001878 | NPRL3 | 0.1038 |
| 26 | EPO levels | − | MAP2K6 | 0.1038 |
| 15 | Osteoporosis | HP:0000939 | COL1A1 | 0.1038 |
| 12 | Bacteremia | HP:0031864 | BMP6 | 0.1025 |
| 30 | Oxidative stress | HP:0025464 | FOXO3 | 0.1000 |
| 31 | Albuminuria | HP:0012592 | APOL1 | 0.0959 |
| 32 | Pulmonary arterial hypertension | HP:0002092 | NEDD4L | 0.0825 |
| 33 | RBC adhesion | − | ADCY6 | 0.0825 |
| 34 | Delayed menarche | HP:0012569 | NOS3 | 0.0825 |
| 35 | Red blood cell alloimmunisation | − | CD81 | 0.0825 |
| 36 | Reticulocytosis | HP:0001923 | NPRL3 | 0.0803 |
| 37 | Abnormal neutrophil cell number | HP:0011991 | NES | 0.0803 |
| 38 | Abnormal GFR | HP:0012212 | APOL1 | 0.0747 |
| 39 | Leg ulcers | − | SMAD7 | 0.0725 |
| 40 | Increased serum iron | HP:0003452 | HFE | 0.0725 |
| 41 | Cardiac iron load | − | GSTM1 | 0.0725 |
| 42 | Thromboembolism | HP:0001907 | PROC | 0.0613 |
| 43 | Response to Hydroxyurea | − | CD36 | 0.0600 |
| 44 | Priapism | HP:0200023 | AQP1, ITGAV, TGFBR3 | 0.0569 |
| 45 | Reticulocytopenia | HP:0001896 | BCL11A | 0.0569 |
| 46 | Recurrent respiratory infections | HP:0002205 | LGALS3 | 0.0513 |
| 47 | Increased lactate dehydrogenase activity | HP:0025435 | NOS3 | 0.0513 |
| 48 | Response to deferiprone | − | UGT1A6 | 0.0513 |
| 49 | Abnormal hepcidin level | HP:0031875 | TMPRSS6 | 0.0434 |
| 50 | Abnormal serum ferritin | HP:0040133 | GSTM1 | 0.0413 |
| 51 | Elevated transferrin saturation | HP:0012463 | HFE | 0.0413 |
| 52 | Decreased serum ferritin | HP:0012343 | TF, TFR2, TNF | 0.0413 |
| 53 | Abnormal circulating homocysteine concentration | HP:0010919 | MTHFR | 0.0413 |
| 54 | Morphine glucuronidation | − | UGT2B7 | 0.0413 |
| 55 | Increased liver iron level | HP:0012465 | HAMP | 0.0334 |
| 56 | Response to deferasirox | − | CYP1A2 | 0.0434 |
| 57 | Retinopathy | HP:0000488 | IL6, NOS3 | 0.0413 |
| 58 | Recurrent upper respiratory tract infections | HP:0002788 | NOS3 | 0.0413 |
| 59 | Recurrent Infections | HP:0002719 | CCL5, MPO, TLR2 | 0.0313 |
Abbreviations: EPO, erythropoietin; GFR, glomerular filtration rate; Hb, haemoglobin; HPO, Human Phenotype Ontology; RBC, red blood cell.