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:0011459 | HP:0011459 | Esophageal carcinoma | 0 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | HP:0040284 - Very rare | | | 3179 | | |
HP:0011459 | HP:0011459 | Esophageal carcinoma | 0 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | HP:0040284 - Very rare | | | 3179 | | |
HP:0011459 | HP:0011459 | Esophageal carcinoma | 0 | ASCC1 CL E G H | 51008 | 24268 | OMIM:614266 | Barrett esophagus | . | | | 2 | | |
HP:0011459 | HP:0011459 | Esophageal carcinoma | 0 | CTHRC1 CL E G H | 115908 | 18831 | OMIM:614266 | Barrett esophagus | . | | | 1 | | |
HP:0011459 | HP:0011459 | Esophageal carcinoma | 0 | DCC CL E G H | 1630 | 2701 | OMIM:133239 | Esophageal cancer, somatic | . | | | 36 | | |
HP:0011459 | HP:0011459 | Esophageal carcinoma | 0 | DLEC1 CL E G H | 9940 | 2899 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | HP:0040281 - Very frequent | | | | | |
HP:0011459 | HP:0011459 | Esophageal carcinoma | 0 | LZTS1 CL E G H | 11178 | 13861 | OMIM:133239 | Esophageal cancer, somatic | . | | | 2 | | |
HP:0011459 | HP:0011459 | Esophageal carcinoma | 0 | MSR1 CL E G H | 4481 | 7376 | OMIM:614266 | Barrett esophagus | . | | | 13 | | |
HP:0011459 | HP:0011459 | Esophageal carcinoma | 0 | RHBDF2 CL E G H | 79651 | 20788 | OMIM:148500 | Tylosis with esophageal cancer | . | | | 80 | | |
HP:0011459 | HP:0011459 | Esophageal carcinoma | 0 | RNF6 CL E G H | 6049 | 10069 | OMIM:133239 | Esophageal cancer, somatic | . | | | 3 | | |
HP:0011459 | HP:0011459 | Esophageal carcinoma | 0 | RNF6 CL E G H | 6049 | 10069 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | HP:0040281 - Very frequent | | | 3 | | |
HP:0011459 | HP:0011459 | Esophageal carcinoma | 0 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040283 - Occasional | | | 89 | | |
HP:0011459 | HP:0011459 | Esophageal carcinoma | 0 | TGFBR2 CL E G H | 7048 | 11773 | OMIM:133239 | Esophageal cancer, somatic | . | | | 253 | | |
HP:0011459 | HP:0011459 | Esophageal carcinoma | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | HP:0040281 - Very frequent | | | 253 | | |
HP:0011459 | HP:0011459 | Esophageal carcinoma | 0 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040283 - Occasional | | | | | |
HP:0011459 | HP:0011459 | Esophageal carcinoma | 0 | WWOX CL E G H | 51741 | 12799 | OMIM:133239 | Esophageal cancer, somatic | . | | | 149 | | |
HP:0011459 | HP:0011459 | Esophageal carcinoma | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | HP:0040281 - Very frequent | | | 149 | | |