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:0002226 | HP:0002226 | White eyebrow | 0 | EDN3 CL E G H | 1908 | 3178 | OMIM:613265 | Waardenburg syndrome, type 4B | . | | | 67 | | |
HP:0002226 | HP:0002226 | White eyebrow | 0 | EDN3 CL E G H | 1908 | 3178 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040281 - Very frequent | | | 67 | | |
HP:0002226 | HP:0002226 | White eyebrow | 0 | EDNRB CL E G H | 1910 | 3180 | OMIM:600501 | Abcd syndrome | | | | 55 | | |
HP:0002226 | HP:0002226 | White eyebrow | 0 | EDNRB CL E G H | 1910 | 3180 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0002226 | HP:0002226 | White eyebrow | 0 | EDNRB CL E G H | 1910 | 3180 | OMIM:277580 | Waardenburg-Shah syndrome | . | | | 55 | | |
HP:0002226 | HP:0002226 | White eyebrow | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:2884 | Piebaldism | HP:0040282 - Frequent | | | 327 | | |
HP:0002226 | HP:0002226 | White eyebrow | 0 | MC1R CL E G H | 4157 | 6929 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 124 | | |
HP:0002226 | HP:0002226 | White eyebrow | 0 | MITF CL E G H | 4286 | 7105 | ORPHA:42665 | Tietz syndrome | HP:0040281 - Very frequent | | | 91 | | |
HP:0002226 | HP:0002226 | White eyebrow | 0 | MITF CL E G H | 4286 | 7105 | OMIM:103500 | Tietz syndrome | . | | | 91 | | |
HP:0002226 | HP:0002226 | White eyebrow | 0 | MITF CL E G H | 4286 | 7105 | OMIM:193510 | Waardenburg syndrome, type 2A | . | | | 91 | | |
HP:0002226 | HP:0002226 | White eyebrow | 0 | MITF CL E G H | 4286 | 7105 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040281 - Very frequent | | | 91 | | |
HP:0002226 | HP:0002226 | White eyebrow | 0 | MYO5A CL E G H | 4644 | 7602 | OMIM:214450 | Griscelli syndrome, type 1 | | | | 35 | | |
HP:0002226 | HP:0002226 | White eyebrow | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0002226 | HP:0002226 | White eyebrow | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | HP:0040281 - Very frequent | | | 59 | | |
HP:0002226 | HP:0002226 | White eyebrow | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | . | | | 59 | | |
HP:0002226 | HP:0002226 | White eyebrow | 0 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:2884 | Piebaldism | HP:0040282 - Frequent | | | 19 | | |
HP:0002226 | HP:0002226 | White eyebrow | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | . | | | 61 | | |
HP:0002226 | HP:0002226 | White eyebrow | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | . | | | 61 | | |
HP:0002226 | HP:0002226 | White eyebrow | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:613266 | Waardenburg syndrome, type 4C | . | | | 61 | | |
HP:0002226 | HP:0002226 | White eyebrow | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0002226 | HP:0002226 | White eyebrow | 0 | TYRP1 CL E G H | 7306 | 12450 | ORPHA:79433 | Oculocutaneous albinism type 3 | HP:0040283 - Occasional | | | 62 | | |