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:0002671 | HP:0002671 | Basal cell carcinoma | 0 | AAGAB CL E G H | 79719 | 25662 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040284 - Very rare | | | 7 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | HP:0040284 - Very rare | | | 2 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | APC CL E G H | 324 | 583 | ORPHA:99818 | Turcot syndrome with polyposis | HP:0040284 - Very rare | | | 3179 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 385 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 87 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | CIB1 CL E G H | 10519 | 16920 | OMIM:618267 | Epidermodysplasia verruciformis, susceptibility to, 3 | . | | | | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | COL14A1 CL E G H | 7373 | 2191 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040284 - Very rare | | | 2 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | CYLD CL E G H | 1540 | 2584 | ORPHA:867 | Familial multiple trichoepithelioma | HP:0040283 - Occasional | | | 126 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | CYLD CL E G H | 1540 | 2584 | OMIM:601606 | Trichoepithelioma, multiple familial, 1 | HP:0040283 - Occasional | | | 126 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | DDB2 CL E G H | 1643 | 2718 | OMIM:278740 | Xeroderma pigmentosum, complementation group E | . | | | 30 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | DICER1 CL E G H | 23405 | 17098 | ORPHA:276399 | Familial multinodular goiter | HP:0040282 - Frequent | | | 670 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 170 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | . | | | 106 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040282 - Frequent | | | 106 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | ERCC3 CL E G H | 2071 | 3435 | OMIM:610651 | Xeroderma pigmentosum, complementation group B | . | | | 54 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040282 - Frequent | | | 54 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:278760 | Xeroderma pigmentosum, complementation group F | | | | 158 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040282 - Frequent | | | 158 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040282 - Frequent | | | 83 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | FAN1 CL E G H | 22909 | 29170 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 59 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 37 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | FOXE1 CL E G H | 2304 | 3806 | OMIM:616534 | Thyroid cancer, nonmedullary, 4 | | | | 9 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:2874 | Phakomatosis pigmentokeratotica | | | | 113 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 113 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | KEAP1 CL E G H | 9817 | 23177 | ORPHA:276399 | Familial multinodular goiter | HP:0040282 - Frequent | | | | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 196 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:363618 | LMNA-related cardiocutaneous progeria syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MC1R CL E G H | 4157 | 6929 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040283 - Occasional | | | 124 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MLH1 CL E G H | 4292 | 7127 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1819 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | . | | | 1819 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MLH1 CL E G H | 4292 | 7127 | OMIM:158320 | Muir-Torre syndrome | . | | | 1819 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MLH3 CL E G H | 27030 | 7128 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 131 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MSH2 CL E G H | 4436 | 7325 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2162 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MSH2 CL E G H | 4436 | 7325 | OMIM:158320 | Muir-Torre syndrome | . | | | 2162 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | MSH6 CL E G H | 2956 | 7329 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2232 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 102 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | NTHL1 CL E G H | 4913 | 8028 | OMIM:616415 | Familial adenomatous polyposis 3 | | | | 2 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | NTHL1 CL E G H | 4913 | 8028 | ORPHA:454840 | NTHL1-related attenuated familial adenomatous polyposis | HP:0040283 - Occasional | | | 2 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040283 - Occasional | | | 121 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PMS1 CL E G H | 5378 | 9121 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PMS2 CL E G H | 5395 | 9122 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1121 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | POLH CL E G H | 5429 | 9181 | ORPHA:90342 | Xeroderma pigmentosum variant | HP:0040282 - Frequent | | | 155 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | POLH CL E G H | 5429 | 9181 | OMIM:278750 | Xeroderma pigmentosum, Variant type | . | | | 155 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 10 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:605462 | Basal cell carcinoma, susceptibility to, 1 | . | | | 665 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:77301 | Monosomy 9q22.3 | HP:0040281 - Very frequent | | | 665 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:605462 | Basal cell carcinoma, susceptibility to, 1 | . | | | 40 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | RASA1 CL E G H | 5921 | 9871 | OMIM:605462 | Basal cell carcinoma, susceptibility to, 1 | . | | | 88 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | HP:0040283 - Occasional | | | 445 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | | | | 37 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 1 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 48 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | SMO CL E G H | 6608 | 11119 | OMIM:605462 | Basal cell carcinoma, susceptibility to, 1 | . | | | 22 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 253 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | TMC6 CL E G H | 11322 | 18021 | OMIM:226400 | Epidermodysplasia verruciformis, susceptibility to, 1 | . | | | 10 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | TYMS CL E G H | 7298 | 12441 | OMIM:620040 | | | | | 1 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:79431 | Oculocutaneous albinism type 1A | HP:0040283 - Occasional | | | 146 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:79434 | Oculocutaneous albinism type 1B | HP:0040283 - Occasional | | | 146 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | WNT10A CL E G H | 80326 | 13829 | ORPHA:50944 | Schöpf-Schulz-Passarge syndrome | HP:0040283 - Occasional | | | 71 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:224750 | Schopf-Schulz-Passarge syndrome | . | | | 71 | | |
HP:0002671 | HP:0002671 | Basal cell carcinoma | 0 | XPC CL E G H | 7508 | 12816 | OMIM:278720 | Xeroderma pigmentosum, complementation group C | . | | | 86 | | |
HP:0002671 | HP:0040098 | Basalioma of the outer ear | 1 | CL E G H | | | | | | | | | | |