Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0031492 | HP:0031492 | Epithelial neoplasm | 0 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0031492 | HP:0031492 | Epithelial neoplasm | 0 | CDKN1B CL E G H | 1027 | 1785 | OMIM:610755 | Multiple endocrine neoplasia, type IV | | | | 102 | | |
HP:0031492 | HP:0031492 | Epithelial neoplasm | 0 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | | | | 65 | | |
HP:0031492 | HP:0031492 | Epithelial neoplasm | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:615225 | Palmoplantar carcinoma, multiple self-healing | | | | 37 | | |
HP:0031492 | HP:0031492 | Epithelial neoplasm | 0 | POLD1 CL E G H | 5424 | 9175 | OMIM:612591 | Colorectal cancer, susceptibility to, 10 | | | | 731 | | |
HP:0031492 | HP:0031492 | Epithelial neoplasm | 0 | POLE CL E G H | 5426 | 9177 | OMIM:615083 | Colorectal cancer, susceptibility to, 12 | | | | 1129 | | |
HP:0031492 | HP:0031492 | Epithelial neoplasm | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | | | | 948 | | |
HP:0031492 | HP:0031492 | Epithelial neoplasm | 0 | RSPO1 CL E G H | 284654 | 21679 | OMIM:610644 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal | | | | 3 | | |
HP:0031492 | HP:0031493 | Glandular cell neoplasm | 1 | CL E G H | | | | | | | | | | |
HP:0031492 | HP:0030731 | Carcinoma | 1 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | . | | | 3179 | | |
HP:0031492 | HP:0030731 | Carcinoma | 1 | CDKN1B CL E G H | 1027 | 1785 | OMIM:610755 | Multiple endocrine neoplasia, type IV | . | | | 102 | | |
HP:0031492 | HP:0030731 | Carcinoma | 1 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | . | | | 65 | | |
HP:0031492 | HP:0030731 | Carcinoma | 1 | NLRP1 CL E G H | 22861 | 14374 | OMIM:615225 | Palmoplantar carcinoma, multiple self-healing | . | | | 37 | | |
HP:0031492 | HP:0030731 | Carcinoma | 1 | POLD1 CL E G H | 5424 | 9175 | OMIM:612591 | Colorectal cancer, susceptibility to, 10 | . | | | 731 | | |
HP:0031492 | HP:0030731 | Carcinoma | 1 | POLE CL E G H | 5426 | 9177 | OMIM:615083 | Colorectal cancer, susceptibility to, 12 | . | | | 1129 | | |
HP:0031492 | HP:0030731 | Carcinoma | 1 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | . | | | 948 | | |
HP:0031492 | HP:0030731 | Carcinoma | 1 | RSPO1 CL E G H | 284654 | 21679 | OMIM:610644 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal | . | | | 3 | | |
HP:0031492 | HP:0031495 | Mucinous neoplasm | 2 | CL E G H | | | | | | | | | | |
HP:0031492 | HP:0031497 | Mucinous colorectal carcinoma | 3 | CL E G H | | | | | | | | | | |
HP:0031492 | HP:0031496 | Mucinous cystic neoplasm of the pancreas | 3 | CL E G H | | | | | | | | | | |
HP:0031492 | HP:0031494 | Ovarian mucinous tumor | 3 | CL E G H | | | | | | | | | | |
HP:0031492 | HP:0031499 | Appendiceal mucinous neoplasm | 3 | CL E G H | | | | | | | | | | |
HP:0031492 | HP:0031498 | Mucinous gastric carcinoma | 3 | CL E G H | | | | | | | | | | |