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:0002216 | HP:0002216 | Premature graying of hair | 0 | ACD CL E G H | 65057 | 25070 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | ATM CL E G H | 472 | 795 | ORPHA:100 | Ataxia-telangiectasia | HP:0040281 - Very frequent | | | 3267 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | BRCC3 CL E G H | 79184 | 24185 | ORPHA:280679 | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 160 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 65 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | . | | | 65 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | DSTYK CL E G H | 25778 | 29043 | OMIM:270750 | Spastic paraplegia 23 | | | | 13 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | EDN3 CL E G H | 1908 | 3178 | OMIM:613265 | Waardenburg syndrome, type 4B | . | | | 67 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | EDN3 CL E G H | 1908 | 3178 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040281 - Very frequent | | | 67 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | EDNRB CL E G H | 1910 | 3180 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040281 - Very frequent | | | 55 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | EDNRB CL E G H | 1910 | 3180 | OMIM:277580 | Waardenburg-Shah syndrome | . | | | 55 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | EDNRB CL E G H | 1910 | 3180 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 199 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 55 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3437 | Vogt-Koyanagi-Harada disease | HP:0040281 - Very frequent | | | 59 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | HP:0040283 - Occasional | | | 229 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | KITLG CL E G H | 4254 | 6343 | OMIM:619947 | | | | | 9 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | KITLG CL E G H | 4254 | 6343 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040281 - Very frequent | | | 9 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | HP:0040281 - Very frequent | | | 645 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:363618 | LMNA-related cardiocutaneous progeria syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | MDM2 CL E G H | 4193 | 6973 | OMIM:618681 | LESSEL-KUBISCH SYNDROME; LSKB | | | | 1 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | MITF CL E G H | 4286 | 7105 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040281 - Very frequent | | | 91 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | MITF CL E G H | 4286 | 7105 | OMIM:193510 | Waardenburg syndrome, type 2A | . | | | 91 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | MITF CL E G H | 4286 | 7105 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040281 - Very frequent | | | 91 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | MTAP CL E G H | 4507 | 7413 | OMIM:112250 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma | HP:0040283 - Occasional | | | 85 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | MYO5A CL E G H | 4644 | 7602 | ORPHA:79476 | Griscelli syndrome type 1 | HP:0040281 - Very frequent | | | 35 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | MYO5A CL E G H | 4644 | 7602 | ORPHA:33445 | Neuroectodermal melanolysosomal disease | HP:0040281 - Very frequent | | | 35 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 27 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 17 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 12 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 26 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 26 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | PARN CL E G H | 5073 | 8609 | OMIM:616371 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4 | | | | 26 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | HP:0040282 - Frequent | | | 59 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | . | | | 59 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | . | | | 59 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:3437 | Vogt-Koyanagi-Harada disease | HP:0040281 - Very frequent | | | 3 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | RAB27A CL E G H | 5873 | 9766 | ORPHA:79477 | Griscelli syndrome type 2 | HP:0040281 - Very frequent | | | 67 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | RPA1 CL E G H | 6117 | 10289 | OMIM:619767 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6 | | | | | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 77 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 77 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | SLC5A6 CL E G H | 8884 | 11041 | OMIM:619903 | | | | | | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040281 - Very frequent | | | 19 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | HP:0040282 - Frequent | | | 61 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040281 - Very frequent | | | 61 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | . | | | 61 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:613266 | Waardenburg syndrome, type 4C | . | | | 61 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | STN1 CL E G H | 79991 | 26200 | OMIM:617341 | Cerebroretinal microangiopathy with calcifications and cysts 2 | . | | | 2 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 48 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | TERC CL E G H | 7012 | 11727 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 48 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | TERC CL E G H | 7012 | 11727 | OMIM:614743 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 | . | | | 48 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 238 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | TERT CL E G H | 7015 | 11730 | OMIM:613989 | Dyskeratosis congenita, autosomal dominant 2 | . | | | 238 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | TERT CL E G H | 7015 | 11730 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 238 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 238 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | TERT CL E G H | 7015 | 11730 | OMIM:614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1 | | | | 238 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 60 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:613990 | Dyskeratosis congenita, autosomal dominant 3 | . | | | 60 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 60 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 1 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040281 - Very frequent | | | 146 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 8 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 40 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040281 - Very frequent | | | 310 | | |
HP:0002216 | HP:0002216 | Premature graying of hair | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0002216 | HP:0004771 | Premature graying of body hair | 1 | DSTYK CL E G H | 25778 | 29043 | OMIM:270750 | Spastic paraplegia 23 | . | | | 13 | | |