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:0002211 | HP:0002211 | White forelock | 0 | EDN3 CL E G H | 1908 | 3178 | OMIM:613265 | Waardenburg syndrome, type 4B | . | | | 67 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | EDN3 CL E G H | 1908 | 3178 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040281 - Very frequent | | | 67 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | EDNRB CL E G H | 1910 | 3180 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040282 - Frequent | | | 55 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | EDNRB CL E G H | 1910 | 3180 | OMIM:277580 | Waardenburg-Shah syndrome | . | | | 55 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | EDNRB CL E G H | 1910 | 3180 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | KIT CL E G H | 3815 | 6342 | OMIM:172800 | Piebald trait | . | | | 327 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:2884 | Piebaldism | HP:0040281 - Very frequent | | | 327 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | KITLG CL E G H | 4254 | 6343 | OMIM:619947 | | | | | 9 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | KITLG CL E G H | 4254 | 6343 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040282 - Frequent | | | 9 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | MITF CL E G H | 4286 | 7105 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040282 - Frequent | | | 91 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | MITF CL E G H | 4286 | 7105 | OMIM:193510 | Waardenburg syndrome, type 2A | . | | | 91 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | MITF CL E G H | 4286 | 7105 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040281 - Very frequent | | | 91 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | HP:0040281 - Very frequent | | | 59 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | . | | | 59 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | . | | | 59 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | HP:0040282 - Frequent | | | 66 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | SNAI2 CL E G H | 6591 | 11094 | OMIM:172800 | Piebald trait | . | | | 19 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:2884 | Piebaldism | HP:0040281 - Very frequent | | | 19 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040282 - Frequent | | | 19 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | . | | | 61 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040282 - Frequent | | | 61 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | . | | | 61 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:613266 | Waardenburg syndrome, type 4C | . | | | 61 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | TERT CL E G H | 7015 | 11730 | OMIM:613989 | Dyskeratosis congenita, autosomal dominant 2 | | | | 238 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | . | | | 12 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040282 - Frequent | | | 146 | | |
HP:0002211 | HP:0002211 | White forelock | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040281 - Very frequent | | | 310 | | |