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:0006660 | HP:0006660 | Aplastic clavicle | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | HP:0040283 - Occasional | | | 192 | | |
HP:0006660 | HP:0006660 | Aplastic clavicle | 0 | CDC45 CL E G H | 8318 | 1739 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0006660 | HP:0006660 | Aplastic clavicle | 0 | CDC6 CL E G H | 990 | 1744 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040282 - Frequent | | | 31 | | |
HP:0006660 | HP:0006660 | Aplastic clavicle | 0 | CDT1 CL E G H | 81620 | 24576 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040282 - Frequent | | | 50 | | |
HP:0006660 | HP:0006660 | Aplastic clavicle | 0 | CTSK CL E G H | 1513 | 2536 | OMIM:265800 | PYCNODYSOSTOSIS | | | | 39 | | |
HP:0006660 | HP:0006660 | Aplastic clavicle | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | . | | | 111 | | |
HP:0006660 | HP:0006660 | Aplastic clavicle | 0 | GMNN CL E G H | 51053 | 17493 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0006660 | HP:0006660 | Aplastic clavicle | 0 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616546 | Short-Rib thoracic dysplasia 14 with polydactyly | . | | | 24 | | |
HP:0006660 | HP:0006660 | Aplastic clavicle | 0 | ORC1 CL E G H | 4998 | 8487 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040282 - Frequent | | | 53 | | |
HP:0006660 | HP:0006660 | Aplastic clavicle | 0 | ORC4 CL E G H | 5000 | 8490 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0006660 | HP:0006660 | Aplastic clavicle | 0 | ORC6 CL E G H | 23594 | 17151 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040282 - Frequent | | | 39 | | |
HP:0006660 | HP:0006660 | Aplastic clavicle | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0006660 | HP:0006660 | Aplastic clavicle | 0 | PTDSS1 CL E G H | 9791 | 9587 | ORPHA:2658 | Lenz-Majewski hyperostotic dwarfism | HP:0040281 - Very frequent | | | 6 | | |
HP:0006660 | HP:0006660 | Aplastic clavicle | 0 | PTH1R CL E G H | 5745 | 9608 | ORPHA:50945 | Blomstrand lethal chondrodysplasia | HP:0040281 - Very frequent | | | 58 | | |
HP:0006660 | HP:0006660 | Aplastic clavicle | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | HP:0040281 - Very frequent | | | 15 | | |
HP:0006660 | HP:0006660 | Aplastic clavicle | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | . | | | 90 | | |
HP:0006660 | HP:0006660 | Aplastic clavicle | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:2307 | IVIC syndrome | HP:0040283 - Occasional | | | 86 | | |