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:0100833 | HP:0100833 | Neoplasm of the small intestine | 0 | AAGAB CL E G H | 79719 | 25662 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | | | | 7 | | |
HP:0100833 | HP:0100833 | Neoplasm of the small intestine | 0 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0100833 | HP:0100833 | Neoplasm of the small intestine | 0 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | | | | 3179 | | |
HP:0100833 | HP:0100833 | Neoplasm of the small intestine | 0 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | | | | 3179 | | |
HP:0100833 | HP:0100833 | Neoplasm of the small intestine | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:157794 | Hereditary mixed polyposis syndrome | | | | 385 | | |
HP:0100833 | HP:0100833 | Neoplasm of the small intestine | 0 | BMPR1A CL E G H | 657 | 1076 | OMIM:174900 | Juvenile polyposis syndrome | | | | 385 | | |
HP:0100833 | HP:0100833 | Neoplasm of the small intestine | 0 | COL14A1 CL E G H | 7373 | 2191 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | | | | 2 | | |
HP:0100833 | HP:0100833 | Neoplasm of the small intestine | 0 | GREM1 CL E G H | 26585 | 2001 | ORPHA:157794 | Hereditary mixed polyposis syndrome | | | | 9 | | |
HP:0100833 | HP:0100833 | Neoplasm of the small intestine | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:44890 | Gastrointestinal stromal tumor | HP:0040283 - Occasional | | | 327 | | |
HP:0100833 | HP:0100833 | Neoplasm of the small intestine | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040282 - Frequent | | | 645 | | |
HP:0100833 | HP:0100833 | Neoplasm of the small intestine | 0 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 1819 | | |
HP:0100833 | HP:0100833 | Neoplasm of the small intestine | 0 | MLH1 CL E G H | 4292 | 7127 | OMIM:158320 | Muir-Torre syndrome | | | | 1819 | | |
HP:0100833 | HP:0100833 | Neoplasm of the small intestine | 0 | MSH2 CL E G H | 4436 | 7325 | OMIM:158320 | Muir-Torre syndrome | | | | 2162 | | |
HP:0100833 | HP:0100833 | Neoplasm of the small intestine | 0 | NTHL1 CL E G H | 4913 | 8028 | OMIM:616415 | Familial adenomatous polyposis 3 | | | | 2 | | |
HP:0100833 | HP:0100833 | Neoplasm of the small intestine | 0 | NTHL1 CL E G H | 4913 | 8028 | ORPHA:454840 | NTHL1-related attenuated familial adenomatous polyposis | | | | 2 | | |
HP:0100833 | HP:0100833 | Neoplasm of the small intestine | 0 | PDGFRA CL E G H | 5156 | 8803 | ORPHA:44890 | Gastrointestinal stromal tumor | HP:0040283 - Occasional | | | 337 | | |
HP:0100833 | HP:0100833 | Neoplasm of the small intestine | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:44890 | Gastrointestinal stromal tumor | HP:0040283 - Occasional | | | 304 | | |
HP:0100833 | HP:0100833 | Neoplasm of the small intestine | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:44890 | Gastrointestinal stromal tumor | HP:0040283 - Occasional | | | 237 | | |
HP:0100833 | HP:0100833 | Neoplasm of the small intestine | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:44890 | Gastrointestinal stromal tumor | HP:0040283 - Occasional | | | 147 | | |
HP:0100833 | HP:0100833 | Neoplasm of the small intestine | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:100093 | Carcinoid syndrome | | | | 129 | | |
HP:0100833 | HP:0100833 | Neoplasm of the small intestine | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:174900 | Juvenile polyposis syndrome | | | | 504 | | |
HP:0100833 | HP:0100833 | Neoplasm of the small intestine | 0 | STK11 CL E G H | 6794 | 11389 | ORPHA:2869 | Peutz-Jeghers syndrome | HP:0040283 - Occasional | | | 740 | | |
HP:0100833 | HP:0100833 | Neoplasm of the small intestine | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040283 - Occasional | | | 310 | | |
HP:0100833 | HP:0012737 | Small intestinal polyp | 1 | CL E G H | | | | | | | | | | |
HP:0100833 | HP:0040274 | Adenocarcinoma of the small intestine | 1 | AAGAB CL E G H | 79719 | 25662 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040284 - Very rare | | | 7 | | |
HP:0100833 | HP:0040274 | Adenocarcinoma of the small intestine | 1 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0100833 | HP:0006722 | Small intestine carcinoid | 1 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | . | | | 3179 | | |
HP:0100833 | HP:0040274 | Adenocarcinoma of the small intestine | 1 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | | | | 3179 | | |
HP:0100833 | HP:0006722 | Small intestine carcinoid | 1 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | HP:0040284 - Very rare | | | 3179 | | |
HP:0100833 | HP:0040274 | Adenocarcinoma of the small intestine | 1 | BMPR1A CL E G H | 657 | 1076 | ORPHA:157794 | Hereditary mixed polyposis syndrome | | | | 385 | | |
HP:0100833 | HP:0040274 | Adenocarcinoma of the small intestine | 1 | BMPR1A CL E G H | 657 | 1076 | OMIM:174900 | Juvenile polyposis syndrome | | | | 385 | | |
HP:0100833 | HP:0040274 | Adenocarcinoma of the small intestine | 1 | COL14A1 CL E G H | 7373 | 2191 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040284 - Very rare | | | 2 | | |
HP:0100833 | HP:0040274 | Adenocarcinoma of the small intestine | 1 | GREM1 CL E G H | 26585 | 2001 | ORPHA:157794 | Hereditary mixed polyposis syndrome | | | | 9 | | |
HP:0100833 | HP:0040274 | Adenocarcinoma of the small intestine | 1 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 1819 | | |
HP:0100833 | HP:0040274 | Adenocarcinoma of the small intestine | 1 | MLH1 CL E G H | 4292 | 7127 | OMIM:158320 | Muir-Torre syndrome | | | | 1819 | | |
HP:0100833 | HP:0040274 | Adenocarcinoma of the small intestine | 1 | MSH2 CL E G H | 4436 | 7325 | OMIM:158320 | Muir-Torre syndrome | | | | 2162 | | |
HP:0100833 | HP:0040274 | Adenocarcinoma of the small intestine | 1 | NTHL1 CL E G H | 4913 | 8028 | OMIM:616415 | Familial adenomatous polyposis 3 | | | | 2 | | |
HP:0100833 | HP:0040274 | Adenocarcinoma of the small intestine | 1 | NTHL1 CL E G H | 4913 | 8028 | ORPHA:454840 | NTHL1-related attenuated familial adenomatous polyposis | | | | 2 | | |
HP:0100833 | HP:0006722 | Small intestine carcinoid | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:100093 | Carcinoid syndrome | HP:0040282 - Frequent | | | 129 | | |
HP:0100833 | HP:0040274 | Adenocarcinoma of the small intestine | 1 | SMAD4 CL E G H | 4089 | 6770 | OMIM:174900 | Juvenile polyposis syndrome | | | | 504 | | |
HP:0100833 | HP:0030412 | Ileal adenocarcinoma | 2 | CL E G H | | | | | | | | | | |
HP:0100833 | HP:0030411 | Jejunal adenocarcinoma | 2 | CL E G H | | | | | | | | | | |
HP:0100833 | HP:0006771 | Duodenal adenocarcinoma | 2 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0100833 | HP:0006771 | Duodenal adenocarcinoma | 2 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | HP:0040284 - Very rare | | | 3179 | | |
HP:0100833 | HP:0006771 | Duodenal adenocarcinoma | 2 | BMPR1A CL E G H | 657 | 1076 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040284 - Very rare | | | 385 | | |
HP:0100833 | HP:0006771 | Duodenal adenocarcinoma | 2 | BMPR1A CL E G H | 657 | 1076 | OMIM:174900 | Juvenile polyposis syndrome | | | | 385 | | |
HP:0100833 | HP:0006771 | Duodenal adenocarcinoma | 2 | GREM1 CL E G H | 26585 | 2001 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040284 - Very rare | | | 9 | | |
HP:0100833 | HP:0006771 | Duodenal adenocarcinoma | 2 | MLH1 CL E G H | 4292 | 7127 | OMIM:158320 | Muir-Torre syndrome | . | | | 1819 | | |
HP:0100833 | HP:0006771 | Duodenal adenocarcinoma | 2 | MSH2 CL E G H | 4436 | 7325 | OMIM:158320 | Muir-Torre syndrome | . | | | 2162 | | |
HP:0100833 | HP:0006771 | Duodenal adenocarcinoma | 2 | NTHL1 CL E G H | 4913 | 8028 | OMIM:616415 | Familial adenomatous polyposis 3 | | | | 2 | | |
HP:0100833 | HP:0006771 | Duodenal adenocarcinoma | 2 | NTHL1 CL E G H | 4913 | 8028 | ORPHA:454840 | NTHL1-related attenuated familial adenomatous polyposis | HP:0040283 - Occasional | | | 2 | | |
HP:0100833 | HP:0006771 | Duodenal adenocarcinoma | 2 | SMAD4 CL E G H | 4089 | 6770 | OMIM:174900 | Juvenile polyposis syndrome | | | | 504 | | |