Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002916 | HP:0002916 | Abnormality of chromosome segregation | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | | | | 76 | | |
HP:0002916 | HP:0002916 | Abnormality of chromosome segregation | 0 | CDAN1 CL E G H | 146059 | 1713 | OMIM:224120 | Anemia, congenital dyserythropoietic, type Ia | | | | 86 | | |
HP:0002916 | HP:0002916 | Abnormality of chromosome segregation | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | | | | 92 | | |
HP:0002916 | HP:0002916 | Abnormality of chromosome segregation | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2248 | Hypoplastic left heart syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0002916 | HP:0002916 | Abnormality of chromosome segregation | 0 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0002916 | HP:0002916 | Abnormality of chromosome segregation | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:1762 | Proximal Xq28 duplication syndrome | HP:0040281 - Very frequent | | | 950 | | |
HP:0002916 | HP:0002916 | Abnormality of chromosome segregation | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:2248 | Hypoplastic left heart syndrome | HP:0040283 - Occasional | | | 90 | | |
HP:0002916 | HP:0002916 | Abnormality of chromosome segregation | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:1713 | 17p11.2 microduplication syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0002916 | HP:0002916 | Abnormality of chromosome segregation | 0 | SEC23B CL E G H | 10483 | 10702 | OMIM:224100 | Anemia, dyserythropoietic congenital, type II | | | | 60 | | |
HP:0002916 | HP:0002916 | Abnormality of chromosome segregation | 0 | SHH CL E G H | 6469 | 10848 | OMIM:147250 | Solitary median maxillary central incisor | | | | 67 | | |
HP:0002916 | HP:0002916 | Abnormality of chromosome segregation | 0 | TRIP13 CL E G H | 9319 | 12307 | OMIM:617598 | Mosaic variegated aneuploidy syndrome 3 | | | | 2 | | |
HP:0002916 | HP:0002916 | Abnormality of chromosome segregation | 0 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | | | | 1090 | | |
HP:0002916 | HP:0200024 | Premature chromatid separation | 1 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | . | | | 76 | | |
HP:0002916 | HP:0003352 | Endopolyploidy on chromosome studies of bone marrow | 1 | CDAN1 CL E G H | 146059 | 1713 | OMIM:224120 | Anemia, congenital dyserythropoietic, type Ia | . | | | 86 | | |
HP:0002916 | HP:0200024 | Premature chromatid separation | 1 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | | | | 92 | | |
HP:0002916 | HP:0003352 | Endopolyploidy on chromosome studies of bone marrow | 1 | SEC23B CL E G H | 10483 | 10702 | OMIM:224100 | Anemia, dyserythropoietic congenital, type II | . | | | 60 | | |
HP:0002916 | HP:0200024 | Premature chromatid separation | 1 | TRIP13 CL E G H | 9319 | 12307 | OMIM:617598 | Mosaic variegated aneuploidy syndrome 3 | . | | | 2 | | |
HP:0002916 | HP:0200024 | Premature chromatid separation | 1 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | . | | | 1090 | | |
HP:0002916 | HP:0003616 | Premature separation of centromeric heterochromatin | 2 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | . | | | 92 | | |