Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
---|
HPO disease - gene - phenotype typical associations: |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | CIB1 CL E G H | 10519 | 618267 | 618267 | 618267 | | OMIM | 1 | | 109 | 16920 | 602293 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | CIB1 CL E G H | 10519 | 618267 | 618267 | 618267 | | OMIM | 1 | | 62 | 16920 | 602293 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | DDB2 CL E G H | 1643 | 278740 | Xeroderma pigmentosum, group E | 278740 | C1848411 | OMIM | 1 | | 106 | 2718 | 600811 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | DDB2 CL E G H | 1643 | 278740 | Xeroderma pigmentosum, group E | 278740 | C1848411 | OMIM | 1 | | 100 | 2718 | 600811 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | DICER1 CL E G H | 23405 | 276399 | | | | ORPHA | 1 | | 3888 | 17098 | 606241 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | DICER1 CL E G H | 23405 | 276399 | | | | ORPHA | 1 | | 3440 | 17098 | 606241 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 479 | 3434 | 126340 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 360 | 3434 | 126340 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 283 | 3435 | 133510 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 186 | 3435 | 133510 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | ERCC3 CL E G H | 2071 | 610651 | Xeroderma pigmentosum, complementation group b | 610651 | C1970808 | OMIM | 1 | | 283 | 3435 | 133510 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | ERCC3 CL E G H | 2071 | 610651 | Xeroderma pigmentosum, complementation group b | 610651 | C1970808 | OMIM | 1 | | 186 | 3435 | 133510 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | HRAS CL E G H | 3265 | 163200 | Epidermal nevus syndrome | 163200 | C0265318 | OMIM | 1 | | 467 | 5173 | 190020 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | HRAS CL E G H | 3265 | 163200 | Epidermal nevus syndrome | 163200 | C0265318 | OMIM | 1 | | 411 | 5173 | 190020 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | KEAP1 CL E G H | 9817 | 276399 | | | | ORPHA | 1 | | 29 | 23177 | 606016 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | KEAP1 CL E G H | 9817 | 276399 | | | | ORPHA | 1 | | 28 | 23177 | 606016 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | KRAS CL E G H | 3845 | 163200 | Epidermal nevus syndrome | 163200 | C0265318 | OMIM | 1 | | 341 | 6407 | 190070 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | KRAS CL E G H | 3845 | 163200 | Epidermal nevus syndrome | 163200 | C0265318 | OMIM | 1 | | 331 | 6407 | 190070 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | LMNA CL E G H | 4000 | 363618 | | | | ORPHA | 1 | | 1486 | 6636 | 150330 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | LMNA CL E G H | 4000 | 363618 | | | | ORPHA | 1 | | 1347 | 6636 | 150330 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MLH1 CL E G H | 4292 | 158320 | Muir-Torré syndrome | 158320 | C1321489 | OMIM | 1 | | 3763 | 7127 | 120436 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MLH1 CL E G H | 4292 | 158320 | Muir-Torré syndrome | 158320 | C1321489 | OMIM | 1 | | 3540 | 7127 | 120436 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MLH1 CL E G H | 4292 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 3763 | 7127 | 120436 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MLH1 CL E G H | 4292 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 3540 | 7127 | 120436 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MSH2 CL E G H | 4436 | 158320 | Muir-Torré syndrome | 158320 | C1321489 | OMIM | 1 | | 4964 | 7325 | 609309 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MSH2 CL E G H | 4436 | 158320 | Muir-Torré syndrome | 158320 | C1321489 | OMIM | 1 | | 4607 | 7325 | 609309 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MSH2 CL E G H | 4436 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 4964 | 7325 | 609309 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MSH2 CL E G H | 4436 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 4607 | 7325 | 609309 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MSH6 CL E G H | 2956 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 6219 | 7329 | 600678 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MSH6 CL E G H | 2956 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 5717 | 7329 | 600678 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | NRAS CL E G H | 4893 | 163200 | Epidermal nevus syndrome | 163200 | C0265318 | OMIM | 1 | | 226 | 7989 | 164790 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | NRAS CL E G H | 4893 | 163200 | Epidermal nevus syndrome | 163200 | C0265318 | OMIM | 1 | | 212 | 7989 | 164790 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PMS2 CL E G H | 5395 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 3421 | 9122 | 600259 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PMS2 CL E G H | 5395 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 3154 | 9122 | 600259 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | POLH CL E G H | 5429 | 90342 | | | | ORPHA | 1 | | 307 | 9181 | 603968 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | POLH CL E G H | 5429 | 90342 | | | | ORPHA | 1 | | 303 | 9181 | 603968 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | POLH CL E G H | 5429 | 278750 | Xeroderma pigmentosum, variant type | 278750 | C1848410 | OMIM | 1 | | 307 | 9181 | 603968 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | POLH CL E G H | 5429 | 278750 | Xeroderma pigmentosum, variant type | 278750 | C1848410 | OMIM | 1 | | 303 | 9181 | 603968 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PTCH1 CL E G H | 5727 | 77301 | | | | ORPHA | 1 | | 2988 | 9585 | 601309 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PTCH1 CL E G H | 5727 | 77301 | | | | ORPHA | 1 | | 2628 | 9585 | 601309 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PTCH1 CL E G H | 5727 | 605462 | Basal cell carcinoma, multiple | 605462 | C1854245 | OMIM | 1 | | 2988 | 9585 | 601309 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PTCH1 CL E G H | 5727 | 605462 | Basal cell carcinoma, multiple | 605462 | C1854245 | OMIM | 1 | | 2628 | 9585 | 601309 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PTCH1 CL E G H | 5727 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 2988 | 9585 | 601309 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PTCH1 CL E G H | 5727 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 2628 | 9585 | 601309 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PTCH2 CL E G H | 8643 | 605462 | Basal cell carcinoma, multiple | 605462 | C1854245 | OMIM | 1 | | 541 | 9586 | 603673 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PTCH2 CL E G H | 8643 | 605462 | Basal cell carcinoma, multiple | 605462 | C1854245 | OMIM | 1 | | 426 | 9586 | 603673 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PTCH2 CL E G H | 8643 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 541 | 9586 | 603673 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PTCH2 CL E G H | 8643 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 426 | 9586 | 603673 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | RASA1 CL E G H | 5921 | 605462 | Basal cell carcinoma, multiple | 605462 | C1854245 | OMIM | 1 | | 583 | 9871 | 139150 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | RASA1 CL E G H | 5921 | 605462 | Basal cell carcinoma, multiple | 605462 | C1854245 | OMIM | 1 | | 458 | 9871 | 139150 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | RECQL4 CL E G H | 9401 | 221016 | | | | ORPHA | 1 | | 3274 | 9949 | 603780 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | RECQL4 CL E G H | 9401 | 221016 | | | | ORPHA | 1 | | 2751 | 9949 | 603780 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | RECQL4 CL E G H | 9401 | 268400 | Rothmund-Thomson syndrome | 268400 | C0032339 | OMIM | 1 | | 3274 | 9949 | 603780 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | RECQL4 CL E G H | 9401 | 268400 | Rothmund-Thomson syndrome | 268400 | C0032339 | OMIM | 1 | | 2751 | 9949 | 603780 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | SMO CL E G H | 6608 | 605462 | Basal cell carcinoma, multiple | 605462 | C1854245 | OMIM | 1 | | 118 | 11119 | 601500 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | SMO CL E G H | 6608 | 605462 | Basal cell carcinoma, multiple | 605462 | C1854245 | OMIM | 1 | | 116 | 11119 | 601500 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | SUFU CL E G H | 51684 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 815 | 16466 | 607035 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | SUFU CL E G H | 51684 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 703 | 16466 | 607035 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | TMC6 CL E G H | 11322 | 226400 | EPIDERMODYSPLASIA VERRUCIFORMIS | 226400 | C0014522 | OMIM | 1 | | 511 | 18021 | 605828 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | TMC6 CL E G H | 11322 | 226400 | EPIDERMODYSPLASIA VERRUCIFORMIS | 226400 | C0014522 | OMIM | 1 | | 397 | 18021 | 605828 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | WNT10A CL E G H | 80326 | 224750 | Schopf-Schulz-Passarge syndrome | 224750 | C1857069 | OMIM | 1 | | 309 | 13829 | 606268 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | WNT10A CL E G H | 80326 | 224750 | Schopf-Schulz-Passarge syndrome | 224750 | C1857069 | OMIM | 1 | | 291 | 13829 | 606268 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | XPC CL E G H | 7508 | 278720 | Xeroderma pigmentosum, group C | 278720 | C2752147 | OMIM | 1 | | 545 | 12816 | 613208 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | XPC CL E G H | 7508 | 278720 | Xeroderma pigmentosum, group C | 278720 | C2752147 | OMIM | 1 | | 518 | 12816 | 613208 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | CIB1 CL E G H | 10519 | 618267 | 618267 | 618267 | | OMIM | 1 | | 109 | 16920 | 602293 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | CIB1 CL E G H | 10519 | 618267 | 618267 | 618267 | | OMIM | 1 | | 62 | 16920 | 602293 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | DDB2 CL E G H | 1643 | 278740 | Xeroderma pigmentosum, group E | 278740 | C1848411 | OMIM | 1 | | 106 | 2718 | 600811 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | DDB2 CL E G H | 1643 | 278740 | Xeroderma pigmentosum, group E | 278740 | C1848411 | OMIM | 1 | | 100 | 2718 | 600811 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | DICER1 CL E G H | 23405 | 276399 | | | | ORPHA | 1 | | 3888 | 17098 | 606241 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | DICER1 CL E G H | 23405 | 276399 | | | | ORPHA | 1 | | 3440 | 17098 | 606241 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 479 | 3434 | 126340 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 360 | 3434 | 126340 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 283 | 3435 | 133510 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 186 | 3435 | 133510 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | ERCC3 CL E G H | 2071 | 610651 | Xeroderma pigmentosum, complementation group b | 610651 | C1970808 | OMIM | 1 | | 283 | 3435 | 133510 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | ERCC3 CL E G H | 2071 | 610651 | Xeroderma pigmentosum, complementation group b | 610651 | C1970808 | OMIM | 1 | | 186 | 3435 | 133510 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | HRAS CL E G H | 3265 | 163200 | Epidermal nevus syndrome | 163200 | C0265318 | OMIM | 1 | | 467 | 5173 | 190020 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | HRAS CL E G H | 3265 | 163200 | Epidermal nevus syndrome | 163200 | C0265318 | OMIM | 1 | | 411 | 5173 | 190020 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | KEAP1 CL E G H | 9817 | 276399 | | | | ORPHA | 1 | | 29 | 23177 | 606016 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | KEAP1 CL E G H | 9817 | 276399 | | | | ORPHA | 1 | | 28 | 23177 | 606016 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | KRAS CL E G H | 3845 | 163200 | Epidermal nevus syndrome | 163200 | C0265318 | OMIM | 1 | | 341 | 6407 | 190070 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | KRAS CL E G H | 3845 | 163200 | Epidermal nevus syndrome | 163200 | C0265318 | OMIM | 1 | | 331 | 6407 | 190070 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | LMNA CL E G H | 4000 | 363618 | | | | ORPHA | 1 | | 1486 | 6636 | 150330 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | LMNA CL E G H | 4000 | 363618 | | | | ORPHA | 1 | | 1347 | 6636 | 150330 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | MLH1 CL E G H | 4292 | 158320 | Muir-Torré syndrome | 158320 | C1321489 | OMIM | 1 | | 3763 | 7127 | 120436 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | MLH1 CL E G H | 4292 | 158320 | Muir-Torré syndrome | 158320 | C1321489 | OMIM | 1 | | 3540 | 7127 | 120436 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | MLH1 CL E G H | 4292 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 3763 | 7127 | 120436 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | MLH1 CL E G H | 4292 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 3540 | 7127 | 120436 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | MSH2 CL E G H | 4436 | 158320 | Muir-Torré syndrome | 158320 | C1321489 | OMIM | 1 | | 4964 | 7325 | 609309 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | MSH2 CL E G H | 4436 | 158320 | Muir-Torré syndrome | 158320 | C1321489 | OMIM | 1 | | 4607 | 7325 | 609309 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | MSH2 CL E G H | 4436 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 4964 | 7325 | 609309 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | MSH2 CL E G H | 4436 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 4607 | 7325 | 609309 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | MSH6 CL E G H | 2956 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 6219 | 7329 | 600678 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | MSH6 CL E G H | 2956 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 5717 | 7329 | 600678 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | NRAS CL E G H | 4893 | 163200 | Epidermal nevus syndrome | 163200 | C0265318 | OMIM | 1 | | 226 | 7989 | 164790 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | NRAS CL E G H | 4893 | 163200 | Epidermal nevus syndrome | 163200 | C0265318 | OMIM | 1 | | 212 | 7989 | 164790 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | PMS2 CL E G H | 5395 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 3421 | 9122 | 600259 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | PMS2 CL E G H | 5395 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 3154 | 9122 | 600259 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | POLH CL E G H | 5429 | 90342 | | | | ORPHA | 1 | | 307 | 9181 | 603968 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | POLH CL E G H | 5429 | 90342 | | | | ORPHA | 1 | | 303 | 9181 | 603968 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | POLH CL E G H | 5429 | 278750 | Xeroderma pigmentosum, variant type | 278750 | C1848410 | OMIM | 1 | | 307 | 9181 | 603968 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | POLH CL E G H | 5429 | 278750 | Xeroderma pigmentosum, variant type | 278750 | C1848410 | OMIM | 1 | | 303 | 9181 | 603968 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | PTCH1 CL E G H | 5727 | 77301 | | | | ORPHA | 1 | | 2988 | 9585 | 601309 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | PTCH1 CL E G H | 5727 | 77301 | | | | ORPHA | 1 | | 2628 | 9585 | 601309 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | PTCH1 CL E G H | 5727 | 605462 | Basal cell carcinoma, multiple | 605462 | C1854245 | OMIM | 1 | | 2988 | 9585 | 601309 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | PTCH1 CL E G H | 5727 | 605462 | Basal cell carcinoma, multiple | 605462 | C1854245 | OMIM | 1 | | 2628 | 9585 | 601309 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | PTCH1 CL E G H | 5727 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 2988 | 9585 | 601309 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | PTCH1 CL E G H | 5727 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 2628 | 9585 | 601309 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | PTCH2 CL E G H | 8643 | 605462 | Basal cell carcinoma, multiple | 605462 | C1854245 | OMIM | 1 | | 541 | 9586 | 603673 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | PTCH2 CL E G H | 8643 | 605462 | Basal cell carcinoma, multiple | 605462 | C1854245 | OMIM | 1 | | 426 | 9586 | 603673 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | PTCH2 CL E G H | 8643 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 541 | 9586 | 603673 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | PTCH2 CL E G H | 8643 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 426 | 9586 | 603673 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | RASA1 CL E G H | 5921 | 605462 | Basal cell carcinoma, multiple | 605462 | C1854245 | OMIM | 1 | | 583 | 9871 | 139150 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | RASA1 CL E G H | 5921 | 605462 | Basal cell carcinoma, multiple | 605462 | C1854245 | OMIM | 1 | | 458 | 9871 | 139150 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | RECQL4 CL E G H | 9401 | 221016 | | | | ORPHA | 1 | | 3274 | 9949 | 603780 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | RECQL4 CL E G H | 9401 | 221016 | | | | ORPHA | 1 | | 2751 | 9949 | 603780 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | RECQL4 CL E G H | 9401 | 268400 | Rothmund-Thomson syndrome | 268400 | C0032339 | OMIM | 1 | | 3274 | 9949 | 603780 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | RECQL4 CL E G H | 9401 | 268400 | Rothmund-Thomson syndrome | 268400 | C0032339 | OMIM | 1 | | 2751 | 9949 | 603780 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | SMO CL E G H | 6608 | 605462 | Basal cell carcinoma, multiple | 605462 | C1854245 | OMIM | 1 | | 118 | 11119 | 601500 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | SMO CL E G H | 6608 | 605462 | Basal cell carcinoma, multiple | 605462 | C1854245 | OMIM | 1 | | 116 | 11119 | 601500 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | SUFU CL E G H | 51684 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 815 | 16466 | 607035 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | SUFU CL E G H | 51684 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 703 | 16466 | 607035 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | TMC6 CL E G H | 11322 | 226400 | EPIDERMODYSPLASIA VERRUCIFORMIS | 226400 | C0014522 | OMIM | 1 | | 511 | 18021 | 605828 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | TMC6 CL E G H | 11322 | 226400 | EPIDERMODYSPLASIA VERRUCIFORMIS | 226400 | C0014522 | OMIM | 1 | | 397 | 18021 | 605828 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | WNT10A CL E G H | 80326 | 224750 | Schopf-Schulz-Passarge syndrome | 224750 | C1857069 | OMIM | 1 | | 309 | 13829 | 606268 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | WNT10A CL E G H | 80326 | 224750 | Schopf-Schulz-Passarge syndrome | 224750 | C1857069 | OMIM | 1 | | 291 | 13829 | 606268 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | XPC CL E G H | 7508 | 278720 | Xeroderma pigmentosum, group C | 278720 | C2752147 | OMIM | 1 | | 545 | 12816 | 613208 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | XPC CL E G H | 7508 | 278720 | Xeroderma pigmentosum, group C | 278720 | C2752147 | OMIM | 1 | | 518 | 12816 | 613208 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | CYLD CL E G H | 1540 | 867 | Berylliosis | | | ORPHA | 0 | | 246 | 2584 | 605018 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | CYLD CL E G H | 1540 | 867 | Berylliosis | | | ORPHA | 0 | | 244 | 2584 | 605018 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | CYLD CL E G H | 1540 | 601606 | Familial multiple trichoepitheliomata | 601606 | C1275122 | OMIM | 0 | | 246 | 2584 | 605018 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | CYLD CL E G H | 1540 | 601606 | Familial multiple trichoepitheliomata | 601606 | C1275122 | OMIM | 0 | | 244 | 2584 | 605018 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 0 | | 374 | 11529 | 185535 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 0 | | 360 | 11529 | 185535 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 0 | | 361 | 29170 | 613534 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 0 | | 351 | 29170 | 613534 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 0 | | 341 | 6407 | 190070 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 0 | | 331 | 6407 | 190070 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MC1R CL E G H | 4157 | 79432 | | | | ORPHA | 0 | | 428 | 6929 | 155555 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MC1R CL E G H | 4157 | 79432 | | | | ORPHA | 0 | | 376 | 6929 | 155555 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 0 | | 3763 | 7127 | 120436 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 0 | | 3540 | 7127 | 120436 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 0 | | 763 | 7128 | 604395 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 0 | | 634 | 7128 | 604395 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 0 | | 4964 | 7325 | 609309 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 0 | | 4607 | 7325 | 609309 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 0 | | 6219 | 7329 | 600678 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 0 | | 5717 | 7329 | 600678 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | NTHL1 CL E G H | 4913 | 454840 | | | | ORPHA | 0 | | 902 | 8028 | 602656 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | NTHL1 CL E G H | 4913 | 454840 | | | | ORPHA | 0 | | 755 | 8028 | 602656 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | OCA2 CL E G H | 4948 | 79432 | | | | ORPHA | 0 | | 851 | 8101 | 611409 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | OCA2 CL E G H | 4948 | 79432 | | | | ORPHA | 0 | | 662 | 8101 | 611409 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 0 | | 613 | 8975 | 171834 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 0 | | 544 | 8975 | 171834 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 0 | | 92 | 9121 | 600258 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 0 | | 85 | 9121 | 600258 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 0 | | 3421 | 9122 | 600259 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 0 | | 3154 | 9122 | 600259 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | SLC45A2 CL E G H | 51151 | 79435 | | | | ORPHA | 0 | | 267 | 16472 | 606202 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | SLC45A2 CL E G H | 51151 | 79435 | | | | ORPHA | 0 | | 162 | 16472 | 606202 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 0 | | 750 | 11773 | 190182 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 0 | | 694 | 11773 | 190182 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | TYR CL E G H | 7299 | 79431 | | | | ORPHA | 0 | | 358 | 12442 | 606933 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | TYR CL E G H | 7299 | 79434 | | | | ORPHA | 0 | | 358 | 12442 | 606933 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | TYR CL E G H | 7299 | 79431 | | | | ORPHA | 0 | | 259 | 12442 | 606933 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | TYR CL E G H | 7299 | 79434 | | | | ORPHA | 0 | | 259 | 12442 | 606933 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | WNT10A CL E G H | 80326 | 50944 | | | | ORPHA | 0 | | 309 | 13829 | 606268 |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | WNT10A CL E G H | 80326 | 50944 | | | | ORPHA | 0 | | 291 | 13829 | 606268 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | CYLD CL E G H | 1540 | 867 | Berylliosis | | | ORPHA | 0 | | 246 | 2584 | 605018 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | CYLD CL E G H | 1540 | 867 | Berylliosis | | | ORPHA | 0 | | 244 | 2584 | 605018 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | CYLD CL E G H | 1540 | 601606 | Familial multiple trichoepitheliomata | 601606 | C1275122 | OMIM | 0 | | 246 | 2584 | 605018 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | CYLD CL E G H | 1540 | 601606 | Familial multiple trichoepitheliomata | 601606 | C1275122 | OMIM | 0 | | 244 | 2584 | 605018 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 0 | | 374 | 11529 | 185535 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 0 | | 360 | 11529 | 185535 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 0 | | 361 | 29170 | 613534 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 0 | | 351 | 29170 | 613534 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 0 | | 341 | 6407 | 190070 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 0 | | 331 | 6407 | 190070 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | MC1R CL E G H | 4157 | 79432 | | | | ORPHA | 0 | | 428 | 6929 | 155555 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | MC1R CL E G H | 4157 | 79432 | | | | ORPHA | 0 | | 376 | 6929 | 155555 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 0 | | 3763 | 7127 | 120436 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 0 | | 3540 | 7127 | 120436 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 0 | | 763 | 7128 | 604395 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 0 | | 634 | 7128 | 604395 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 0 | | 4964 | 7325 | 609309 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 0 | | 4607 | 7325 | 609309 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 0 | | 6219 | 7329 | 600678 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 0 | | 5717 | 7329 | 600678 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | NTHL1 CL E G H | 4913 | 454840 | | | | ORPHA | 0 | | 902 | 8028 | 602656 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | NTHL1 CL E G H | 4913 | 454840 | | | | ORPHA | 0 | | 755 | 8028 | 602656 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | OCA2 CL E G H | 4948 | 79432 | | | | ORPHA | 0 | | 851 | 8101 | 611409 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | OCA2 CL E G H | 4948 | 79432 | | | | ORPHA | 0 | | 662 | 8101 | 611409 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 0 | | 613 | 8975 | 171834 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 0 | | 544 | 8975 | 171834 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 0 | | 92 | 9121 | 600258 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 0 | | 85 | 9121 | 600258 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 0 | | 3421 | 9122 | 600259 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 0 | | 3154 | 9122 | 600259 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | SLC45A2 CL E G H | 51151 | 79435 | | | | ORPHA | 0 | | 267 | 16472 | 606202 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | SLC45A2 CL E G H | 51151 | 79435 | | | | ORPHA | 0 | | 162 | 16472 | 606202 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 0 | | 750 | 11773 | 190182 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 0 | | 694 | 11773 | 190182 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | TYR CL E G H | 7299 | 79431 | | | | ORPHA | 0 | | 358 | 12442 | 606933 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | TYR CL E G H | 7299 | 79434 | | | | ORPHA | 0 | | 358 | 12442 | 606933 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | TYR CL E G H | 7299 | 79434 | | | | ORPHA | 0 | | 259 | 12442 | 606933 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | TYR CL E G H | 7299 | 79431 | | | | ORPHA | 0 | | 259 | 12442 | 606933 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | WNT10A CL E G H | 80326 | 50944 | | | | ORPHA | 0 | | 309 | 13829 | 606268 |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | WNT10A CL E G H | 80326 | 50944 | | | | ORPHA | 0 | | 291 | 13829 | 606268 |