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:0001022 | HP:0001022 | Albinism | 0 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0001022 | HP:0001022 | Albinism | 0 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0001022 | HP:0001022 | Albinism | 0 | BLOC1S3 CL E G H | 388552 | 20914 | OMIM:614077 | Hermansky-Pudlak syndrome 8 | . | | | 42 | | |
HP:0001022 | HP:0001022 | Albinism | 0 | BLOC1S5 CL E G H | 63915 | 18561 | OMIM:619172 | HERMANSKY-PUDLAK SYNDROME 11; HPS11 | | | | | | |
HP:0001022 | HP:0001022 | Albinism | 0 | CACNA1F CL E G H | 778 | 1393 | OMIM:300600 | Aland island eye disease | . | | | 58 | | |
HP:0001022 | HP:0001022 | Albinism | 0 | DTNBP1 CL E G H | 84062 | 17328 | OMIM:614076 | Hermansky-Pudlak syndrome 7 | . | | | 46 | | |
HP:0001022 | HP:0001022 | Albinism | 0 | EDNRB CL E G H | 1910 | 3180 | OMIM:600501 | Abcd syndrome | . | | | 55 | | |
HP:0001022 | HP:0001022 | Albinism | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0001022 | HP:0001022 | Albinism | 0 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | . | | | 121 | | |
HP:0001022 | HP:0001022 | Albinism | 0 | HPS3 CL E G H | 84343 | 15597 | OMIM:614072 | Hermansky-Pudlak syndrome 3 | | | | 67 | | |
HP:0001022 | HP:0001022 | Albinism | 0 | HPS4 CL E G H | 89781 | 15844 | OMIM:614073 | Hermansky-Pudlak syndrome 4 | . | | | 123 | | |
HP:0001022 | HP:0001022 | Albinism | 0 | HPS5 CL E G H | 11234 | 17022 | OMIM:614074 | Hermansky-Pudlak syndrome 5 | . | | | 105 | | |
HP:0001022 | HP:0001022 | Albinism | 0 | HPS6 CL E G H | 79803 | 18817 | OMIM:614075 | Hermansky-Pudlak syndrome 6 | . | | | 45 | | |
HP:0001022 | HP:0001022 | Albinism | 0 | LRMDA CL E G H | 83938 | 23405 | OMIM:615179 | Albinism, oculocutaneous, type V | . | | | 13 | | |
HP:0001022 | HP:0001022 | Albinism | 0 | MC1R CL E G H | 4157 | 6929 | OMIM:203200 | Albinism, oculocutaneous, type II | . | | | 124 | | |
HP:0001022 | HP:0001022 | Albinism | 0 | MITF CL E G H | 4286 | 7105 | OMIM:193510 | Waardenburg syndrome, type 2A | . | HP:0003577 - Congenital onset | | 91 | | |
HP:0001022 | HP:0001022 | Albinism | 0 | OCA2 CL E G H | 4948 | 8101 | OMIM:203200 | Albinism, oculocutaneous, type II | . | | | 121 | | |
HP:0001022 | HP:0001022 | Albinism | 0 | SLC45A2 CL E G H | 51151 | 16472 | OMIM:606574 | ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4 | | | | 42 | | |
HP:0001022 | HP:0001022 | Albinism | 0 | SLC45A2 CL E G H | 51151 | 16472 | ORPHA:79435 | Oculocutaneous albinism type 4 | HP:0040282 - Frequent | | | 42 | | |
HP:0001022 | HP:0001022 | Albinism | 0 | TYR CL E G H | 7299 | 12442 | OMIM:203100 | Albinism, oculocutaneous, type IA | . | | | 146 | | |
HP:0001022 | HP:0001022 | Albinism | 0 | TYR CL E G H | 7299 | 12442 | OMIM:606952 | Albinism, oculocutaneous, type IB | . | | | 146 | | |
HP:0001022 | HP:0001022 | Albinism | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:79431 | Oculocutaneous albinism type 1A | HP:0040281 - Very frequent | | | 146 | | |
HP:0001022 | HP:0001022 | Albinism | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:79434 | Oculocutaneous albinism type 1B | HP:0040281 - Very frequent | | | 146 | | |
HP:0001022 | HP:0001022 | Albinism | 0 | TYRP1 CL E G H | 7306 | 12450 | OMIM:203290 | Albinism, oculocutaneous, type III | . | | | 62 | | |
HP:0001022 | HP:0001022 | Albinism | 0 | WDR45 CL E G H | 11152 | 28912 | OMIM:615179 | Albinism, oculocutaneous, type V | . | | | 51 | | |