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:0004866 | HP:0004866 | Impaired ADP-induced platelet aggregation | 0 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0004866 | HP:0004866 | Impaired ADP-induced platelet aggregation | 0 | CALR CL E G H | 811 | 1455 | OMIM:187950 | THROMBOCYTHEMIA 1; THCYT1 | | | | 1 | | |
HP:0004866 | HP:0004866 | Impaired ADP-induced platelet aggregation | 0 | FLI1 CL E G H | 2313 | 3749 | OMIM:617443 | Bleeding disorder, platelet-type, 21 | | | | 8 | | |
HP:0004866 | HP:0004866 | Impaired ADP-induced platelet aggregation | 0 | HPS5 CL E G H | 11234 | 17022 | OMIM:614074 | Hermansky-Pudlak syndrome 5 | | | | 105 | | |
HP:0004866 | HP:0004866 | Impaired ADP-induced platelet aggregation | 0 | HPS6 CL E G H | 79803 | 18817 | OMIM:614075 | Hermansky-Pudlak syndrome 6 | . | | | 45 | | |
HP:0004866 | HP:0004866 | Impaired ADP-induced platelet aggregation | 0 | IKZF5 CL E G H | 64376 | 14283 | OMIM:619130 | THROMBOCYTOPENIA 7; THC7 | | | | | | |
HP:0004866 | HP:0004866 | Impaired ADP-induced platelet aggregation | 0 | ITGA2B CL E G H | 3674 | 6138 | OMIM:273800 | Glanzmann thrombasthenia | | | | 69 | | |
HP:0004866 | HP:0004866 | Impaired ADP-induced platelet aggregation | 0 | ITGB3 CL E G H | 3690 | 6156 | OMIM:619271 | BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT24 | | | | 80 | | |
HP:0004866 | HP:0004866 | Impaired ADP-induced platelet aggregation | 0 | ITGB3 CL E G H | 3690 | 6156 | OMIM:619267 | GLANZMANN THROMBASTHENIA 2; GT2 | | | | 80 | | |
HP:0004866 | HP:0004866 | Impaired ADP-induced platelet aggregation | 0 | MYH9 CL E G H | 4627 | 7579 | OMIM:155100 | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | | | | 297 | | |
HP:0004866 | HP:0004866 | Impaired ADP-induced platelet aggregation | 0 | P2RY12 CL E G H | 64805 | 18124 | OMIM:609821 | Bleeding disorder, platelet-type, 8 | | | | 5 | | |
HP:0004866 | HP:0004866 | Impaired ADP-induced platelet aggregation | 0 | SH2B3 CL E G H | 10019 | 29605 | OMIM:187950 | THROMBOCYTHEMIA 1; THCYT1 | | | | 4 | | |
HP:0004866 | HP:0004866 | Impaired ADP-induced platelet aggregation | 0 | THPO CL E G H | 7066 | 11795 | OMIM:187950 | THROMBOCYTHEMIA 1; THCYT1 | | | | 23 | | |