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:0100751 | HP:0100751 | Esophageal neoplasm | 0 | AAGAB CL E G H | 79719 | 25662 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040283 - Occasional | | | 7 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | | | | 3179 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | | | | 3179 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | ASCC1 CL E G H | 51008 | 24268 | OMIM:614266 | Barrett esophagus | | | | 2 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040284 - Very rare | | | 314 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | COL14A1 CL E G H | 7373 | 2191 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040281 - Very frequent | | | 678 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040281 - Very frequent | | | 18 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | CTHRC1 CL E G H | 115908 | 18831 | OMIM:614266 | Barrett esophagus | | | | 1 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | DCC CL E G H | 1630 | 2701 | OMIM:133239 | Esophageal cancer, somatic | | | | 36 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | DLEC1 CL E G H | 9940 | 2899 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | | | | | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | FH CL E G H | 2271 | 3700 | ORPHA:523 | Hereditary leiomyomatosis and renal cell cancer | HP:0040283 - Occasional | | | 301 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:44890 | Gastrointestinal stromal tumor | HP:0040283 - Occasional | | | 327 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | LZTS1 CL E G H | 11178 | 13861 | OMIM:133239 | Esophageal cancer, somatic | | | | 2 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | MSR1 CL E G H | 4481 | 7376 | OMIM:614266 | Barrett esophagus | | | | 13 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | MYH11 CL E G H | 4629 | 7569 | OMIM:619350 | VISCERAL MYOPATHY 2; VSCM2 | | | | 418 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | PDGFRA CL E G H | 5156 | 8803 | ORPHA:44890 | Gastrointestinal stromal tumor | HP:0040283 - Occasional | | | 337 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | RAD21 CL E G H | 5885 | 9811 | OMIM:611376 | Mungan syndrome | | | | 25 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | RHBDF2 CL E G H | 79651 | 20788 | ORPHA:2198 | Palmoplantar keratoderma-esophageal carcinoma syndrome | HP:0040281 - Very frequent | | | 80 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | RHBDF2 CL E G H | 79651 | 20788 | OMIM:148500 | Tylosis with esophageal cancer | | | | 80 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | RNF6 CL E G H | 6049 | 10069 | OMIM:133239 | Esophageal cancer, somatic | | | | 3 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | RNF6 CL E G H | 6049 | 10069 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | | | | 3 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:44890 | Gastrointestinal stromal tumor | HP:0040283 - Occasional | | | 304 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:44890 | Gastrointestinal stromal tumor | HP:0040283 - Occasional | | | 237 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:44890 | Gastrointestinal stromal tumor | HP:0040283 - Occasional | | | 147 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | 89 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | STK11 CL E G H | 6794 | 11389 | ORPHA:2869 | Peutz-Jeghers syndrome | HP:0040283 - Occasional | | | 740 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | TGFBR2 CL E G H | 7048 | 11773 | OMIM:133239 | Esophageal cancer, somatic | | | | 253 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | | | | 253 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | WWOX CL E G H | 51741 | 12799 | OMIM:133239 | Esophageal cancer, somatic | | | | 149 | | |
HP:0100751 | HP:0100751 | Esophageal neoplasm | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | | | | 149 | | |
HP:0100751 | HP:0031463 | Esophageal squamous papilloma | 1 | CL E G H | | | | | | | | | | |
HP:0100751 | HP:0011459 | Esophageal carcinoma | 1 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | HP:0040284 - Very rare | | | 3179 | | |
HP:0100751 | HP:0011459 | Esophageal carcinoma | 1 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | HP:0040284 - Very rare | | | 3179 | | |
HP:0100751 | HP:0100580 | Barrett esophagus | 1 | ASCC1 CL E G H | 51008 | 24268 | OMIM:614266 | Barrett esophagus | . | | | 2 | | |
HP:0100751 | HP:0011459 | Esophageal carcinoma | 1 | ASCC1 CL E G H | 51008 | 24268 | OMIM:614266 | Barrett esophagus | . | | | 2 | | |
HP:0100751 | HP:0011459 | Esophageal carcinoma | 1 | CTHRC1 CL E G H | 115908 | 18831 | OMIM:614266 | Barrett esophagus | . | | | 1 | | |
HP:0100751 | HP:0100580 | Barrett esophagus | 1 | CTHRC1 CL E G H | 115908 | 18831 | OMIM:614266 | Barrett esophagus | . | | | 1 | | |
HP:0100751 | HP:0011459 | Esophageal carcinoma | 1 | DCC CL E G H | 1630 | 2701 | OMIM:133239 | Esophageal cancer, somatic | . | | | 36 | | |
HP:0100751 | HP:0011459 | Esophageal carcinoma | 1 | DLEC1 CL E G H | 9940 | 2899 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | HP:0040281 - Very frequent | | | | | |
HP:0100751 | HP:0100580 | Barrett esophagus | 1 | FH CL E G H | 2271 | 3700 | ORPHA:523 | Hereditary leiomyomatosis and renal cell cancer | HP:0040283 - Occasional | | | 301 | | |
HP:0100751 | HP:0011459 | Esophageal carcinoma | 1 | LZTS1 CL E G H | 11178 | 13861 | OMIM:133239 | Esophageal cancer, somatic | . | | | 2 | | |
HP:0100751 | HP:0100580 | Barrett esophagus | 1 | MSR1 CL E G H | 4481 | 7376 | OMIM:614266 | Barrett esophagus | . | | | 13 | | |
HP:0100751 | HP:0011459 | Esophageal carcinoma | 1 | MSR1 CL E G H | 4481 | 7376 | OMIM:614266 | Barrett esophagus | . | | | 13 | | |
HP:0100751 | HP:0100580 | Barrett esophagus | 1 | MYH11 CL E G H | 4629 | 7569 | OMIM:619350 | VISCERAL MYOPATHY 2; VSCM2 | | | | 418 | | |
HP:0100751 | HP:0100580 | Barrett esophagus | 1 | RAD21 CL E G H | 5885 | 9811 | OMIM:611376 | Mungan syndrome | . | | | 25 | | |
HP:0100751 | HP:0011459 | Esophageal carcinoma | 1 | RHBDF2 CL E G H | 79651 | 20788 | OMIM:148500 | Tylosis with esophageal cancer | . | | | 80 | | |
HP:0100751 | HP:0011459 | Esophageal carcinoma | 1 | RNF6 CL E G H | 6049 | 10069 | OMIM:133239 | Esophageal cancer, somatic | . | | | 3 | | |
HP:0100751 | HP:0011459 | Esophageal carcinoma | 1 | RNF6 CL E G H | 6049 | 10069 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | HP:0040281 - Very frequent | | | 3 | | |
HP:0100751 | HP:0011459 | Esophageal carcinoma | 1 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040283 - Occasional | | | 89 | | |
HP:0100751 | HP:0011459 | Esophageal carcinoma | 1 | TGFBR2 CL E G H | 7048 | 11773 | OMIM:133239 | Esophageal cancer, somatic | . | | | 253 | | |
HP:0100751 | HP:0011459 | Esophageal carcinoma | 1 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | HP:0040281 - Very frequent | | | 253 | | |
HP:0100751 | HP:0011459 | Esophageal carcinoma | 1 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040283 - Occasional | | | | | |
HP:0100751 | HP:0011459 | Esophageal carcinoma | 1 | WWOX CL E G H | 51741 | 12799 | OMIM:133239 | Esophageal cancer, somatic | . | | | 149 | | |
HP:0100751 | HP:0011459 | Esophageal carcinoma | 1 | WWOX CL E G H | 51741 | 12799 | ORPHA:99977 | Squamous cell carcinoma of the esophagus | HP:0040281 - Very frequent | | | 149 | | |