Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0002448 | HP:0002448 | Progressive encephalopathy | 0 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 1 | | 510 | 15832 | 606158 |
HP:0002448 | HP:0002448 | Progressive encephalopathy | 0 | CDKN2A CL E G H | 1029 | 524 | Acute megakaryoblastic leukemia | | C0023462 | ORPHA | 1 | | 1305 | 1787 | 600160 |
HP:0002448 | HP:0002448 | Progressive encephalopathy | 0 | CHEK2 CL E G H | 11200 | 524 | Acute megakaryoblastic leukemia | | C0023462 | ORPHA | 1 | | 3700 | 16627 | 604373 |
HP:0002448 | HP:0002448 | Progressive encephalopathy | 0 | HTRA1 CL E G H | 5654 | 600142 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | 600142 | C1838577 | OMIM | 1 | | 285 | 9476 | 602194 |
HP:0002448 | HP:0002448 | Progressive encephalopathy | 0 | MDM2 CL E G H | 4193 | 524 | Acute megakaryoblastic leukemia | | C0023462 | ORPHA | 1 | | 131 | 6973 | 164785 |
HP:0002448 | HP:0002448 | Progressive encephalopathy | 0 | NADK2 CL E G H | 133686 | 431361 | | | | ORPHA | 1 | | 221 | 26404 | 615787 |
HP:0002448 | HP:0002448 | Progressive encephalopathy | 0 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0002448 | HP:0002448 | Progressive encephalopathy | 0 | TBCE CL E G H | 6905 | 496756 | | | | ORPHA | 1 | | 456 | 11582 | 604934 |
HP:0002448 | HP:0002448 | Progressive encephalopathy | 0 | TP53 CL E G H | 7157 | 524 | Acute megakaryoblastic leukemia | | C0023462 | ORPHA | 1 | | 2977 | 11998 | 191170 |
HP:0002448 | HP:0002448 | Progressive encephalopathy | 0 | TREX1 CL E G H | 11277 | 225750 | Aicardi Goutieres syndrome 1 | 225750 | C0796126 | OMIM | 1 | | 418 | 12269 | 606609 |
HP:0002448 | HP:0002448 | Progressive encephalopathy | 0 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 587 | 28912 | 300526 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002448 | HP:0002448 | Progressive encephalopathy | 0 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 0 | | 967 | 11782 | 191290 |