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:0009892 | HP:0009892 | Anotia | 0 | CDC45 CL E G H | 8318 | 1739 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0009892 | HP:0009892 | Anotia | 0 | CDC6 CL E G H | 990 | 1744 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0009892 | HP:0009892 | Anotia | 0 | CDT1 CL E G H | 81620 | 24576 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0009892 | HP:0009892 | Anotia | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:3412 | VACTERL with hydrocephalus | HP:0040283 - Occasional | | | 58 | | |
HP:0009892 | HP:0009892 | Anotia | 0 | FANCL CL E G H | 55120 | 20748 | OMIM:614083 | Fanconi anemia, complementation group L | | | | 53 | | |
HP:0009892 | HP:0009892 | Anotia | 0 | GMNN CL E G H | 51053 | 17493 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0009892 | HP:0009892 | Anotia | 0 | HOXA2 CL E G H | 3199 | 5103 | ORPHA:83463 | Microtia | HP:0040282 - Frequent | | | 21 | | |
HP:0009892 | HP:0009892 | Anotia | 0 | ORC1 CL E G H | 4998 | 8487 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 53 | | |
HP:0009892 | HP:0009892 | Anotia | 0 | ORC4 CL E G H | 5000 | 8490 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0009892 | HP:0009892 | Anotia | 0 | ORC6 CL E G H | 23594 | 17151 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 39 | | |
HP:0009892 | HP:0009892 | Anotia | 0 | POLR1A CL E G H | 25885 | 17264 | OMIM:616462 | Acrofacial dysostosis, Cincinnati type | . | | | 8 | | |
HP:0009892 | HP:0009892 | Anotia | 0 | POLR1D CL E G H | 51082 | 20422 | OMIM:613717 | Treacher collins syndrome 2 | | | | 31 | | |
HP:0009892 | HP:0009892 | Anotia | 0 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | . | | | 2 | | |