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:0006739 | HP:0006739 | Squamous cell carcinoma of the skin | 0 | DDB2 CL E G H | 1643 | 2718 | OMIM:278740 | Xeroderma pigmentosum, complementation group E | . | | | 30 | | |
HP:0006739 | HP:0006739 | Squamous cell carcinoma of the skin | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040282 - Frequent | | | 106 | | |
HP:0006739 | HP:0006739 | Squamous cell carcinoma of the skin | 0 | ERCC3 CL E G H | 2071 | 3435 | OMIM:610651 | Xeroderma pigmentosum, complementation group B | . | | | 54 | | |
HP:0006739 | HP:0006739 | Squamous cell carcinoma of the skin | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040282 - Frequent | | | 54 | | |
HP:0006739 | HP:0006739 | Squamous cell carcinoma of the skin | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040282 - Frequent | | | 158 | | |
HP:0006739 | HP:0006739 | Squamous cell carcinoma of the skin | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040282 - Frequent | | | 83 | | |
HP:0006739 | HP:0006739 | Squamous cell carcinoma of the skin | 0 | IL7 CL E G H | 3574 | 6023 | OMIM:618309 | EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5 | | | | | | |
HP:0006739 | HP:0006739 | Squamous cell carcinoma of the skin | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040284 - Very rare | | | 110 | | |
HP:0006739 | HP:0006739 | Squamous cell carcinoma of the skin | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040284 - Very rare | | | 173 | | |
HP:0006739 | HP:0006739 | Squamous cell carcinoma of the skin | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:363618 | LMNA-related cardiocutaneous progeria syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0006739 | HP:0006739 | Squamous cell carcinoma of the skin | 0 | MC1R CL E G H | 4157 | 6929 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040283 - Occasional | | | 124 | | |
HP:0006739 | HP:0006739 | Squamous cell carcinoma of the skin | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040283 - Occasional | | | 121 | | |
HP:0006739 | HP:0006739 | Squamous cell carcinoma of the skin | 0 | RSPO1 CL E G H | 284654 | 21679 | ORPHA:85112 | Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0006739 | HP:0006739 | Squamous cell carcinoma of the skin | 0 | SMARCAD1 CL E G H | 56916 | 18398 | OMIM:181600 | Huriez syndrome | | | | 6 | | |
HP:0006739 | HP:0006739 | Squamous cell carcinoma of the skin | 0 | TERC CL E G H | 7012 | 11727 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 48 | | |
HP:0006739 | HP:0006739 | Squamous cell carcinoma of the skin | 0 | TERT CL E G H | 7015 | 11730 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 238 | | |
HP:0006739 | HP:0006739 | Squamous cell carcinoma of the skin | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 60 | | |
HP:0006739 | HP:0006739 | Squamous cell carcinoma of the skin | 0 | TMC8 CL E G H | 147138 | 20474 | OMIM:618231 | EPIDERMODYSPLASIA VERRUCIFORMIS 2; EV2 | | | | 4 | | |
HP:0006739 | HP:0006739 | Squamous cell carcinoma of the skin | 0 | TYMS CL E G H | 7298 | 12441 | OMIM:620040 | | | | | 1 | | |
HP:0006739 | HP:0006739 | Squamous cell carcinoma of the skin | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:79431 | Oculocutaneous albinism type 1A | HP:0040283 - Occasional | | | 146 | | |
HP:0006739 | HP:0006739 | Squamous cell carcinoma of the skin | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:79434 | Oculocutaneous albinism type 1B | HP:0040283 - Occasional | | | 146 | | |
HP:0006739 | HP:0006739 | Squamous cell carcinoma of the skin | 0 | XPC CL E G H | 7508 | 12816 | OMIM:278720 | Xeroderma pigmentosum, complementation group C | . | | | 86 | | |