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:0001029 | HP:0001029 | Poikiloderma | 0 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | HP:0040281 - Very frequent | | | 2 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | ANAPC1 CL E G H | 64682 | 19988 | OMIM:618625 | ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1 | | | | 2 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040283 - Occasional | | | 314 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | CD28 CL E G H | 940 | 1653 | ORPHA:2584 | Classic mycosis fungoides | HP:0040282 - Frequent | | | | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158673 | Localized dystrophic epidermolysis bullosa, acral form | HP:0040282 - Frequent | | | 263 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:2584 | Classic mycosis fungoides | HP:0040282 - Frequent | | | 10 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 30 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | DDB2 CL E G H | 1643 | 2718 | OMIM:278740 | Xeroderma pigmentosum, complementation group E | . | | | 30 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 106 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:278730 | Xeroderma pigmentosum, complementation group D | . | | | 106 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040281 - Very frequent | | | 106 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 54 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040281 - Very frequent | | | 54 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 158 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040281 - Very frequent | | | 158 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 83 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040281 - Very frequent | | | 83 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:278800 | De Sanctis-Cacchione syndrome | . | | | 199 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | FAM111B CL E G H | 374393 | 24200 | OMIM:615704 | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis | . | HP:0003577 - Congenital onset | | 6 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | HP:0040281 - Very frequent | | | 136 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | FERMT1 CL E G H | 55612 | 15889 | OMIM:173650 | Kindler syndrome | | | | 136 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | | | | 25 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | | | | 645 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | POLH CL E G H | 5429 | 9181 | ORPHA:90342 | Xeroderma pigmentosum variant | HP:0040281 - Very frequent | | | 155 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | POLH CL E G H | 5429 | 9181 | OMIM:278750 | Xeroderma pigmentosum, Variant type | . | | | 155 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:1225 | Baller-Gerold syndrome | HP:0040283 - Occasional | | | 445 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | HP:0040281 - Very frequent | | | 445 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | TNFRSF1B CL E G H | 7133 | 11917 | ORPHA:2584 | Classic mycosis fungoides | HP:0040282 - Frequent | | | | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 34 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | XPA CL E G H | 7507 | 12814 | OMIM:278700 | Xeroderma pigmentosum, complementation group A | . | | | 34 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 86 | | |
HP:0001029 | HP:0001029 | Poikiloderma | 0 | XPC CL E G H | 7508 | 12816 | OMIM:278720 | Xeroderma pigmentosum, complementation group C | . | | | 86 | | |