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:0100570 | HP:0100570 | Carcinoid tumor | 0 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0100570 | HP:0100570 | Carcinoid tumor | 0 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | | | | 3179 | | |
HP:0100570 | HP:0100570 | Carcinoid tumor | 0 | ATRX CL E G H | 546 | 886 | ORPHA:100075 | Neuroendocrine tumor of stomach | HP:0040280 - Obligate | | | 169 | | |
HP:0100570 | HP:0100570 | Carcinoid tumor | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0100570 | HP:0100570 | Carcinoid tumor | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0100570 | HP:0100570 | Carcinoid tumor | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040283 - Occasional | | | 102 | | |
HP:0100570 | HP:0100570 | Carcinoid tumor | 0 | CDKN1B CL E G H | 1027 | 1785 | OMIM:610755 | Multiple endocrine neoplasia, type IV | . | | | 102 | | |
HP:0100570 | HP:0100570 | Carcinoid tumor | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0100570 | HP:0100570 | Carcinoid tumor | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0100570 | HP:0100570 | Carcinoid tumor | 0 | DAXX CL E G H | 1616 | 2681 | ORPHA:100075 | Neuroendocrine tumor of stomach | HP:0040280 - Obligate | | | | | |
HP:0100570 | HP:0100570 | Carcinoid tumor | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040284 - Very rare | | | 23 | | |
HP:0100570 | HP:0100570 | Carcinoid tumor | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:363618 | LMNA-related cardiocutaneous progeria syndrome | | | | 645 | | |
HP:0100570 | HP:0100570 | Carcinoid tumor | 0 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | | | | 462 | | |
HP:0100570 | HP:0100570 | Carcinoid tumor | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |
HP:0100570 | HP:0100570 | Carcinoid tumor | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:100093 | Carcinoid syndrome | HP:0040280 - Obligate | | | 129 | | |
HP:0100570 | HP:0100570 | Carcinoid tumor | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040284 - Very rare | | | 1090 | | |
HP:0100570 | HP:0100570 | Carcinoid tumor | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040284 - Very rare | | | 2738 | | |
HP:0100570 | HP:0006722 | Small intestine carcinoid | 1 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | . | | | 3179 | | |
HP:0100570 | HP:0006722 | Small intestine carcinoid | 1 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | HP:0040284 - Very rare | | | 3179 | | |
HP:0100570 | HP:0030445 | Pulmonary carcinoid tumor | 1 | ATRX CL E G H | 546 | 886 | ORPHA:100075 | Neuroendocrine tumor of stomach | | | | 169 | | |
HP:0100570 | HP:0030445 | Pulmonary carcinoid tumor | 1 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | 2 | | |
HP:0100570 | HP:0006723 | Intestinal carcinoid | 1 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0100570 | HP:0006723 | Intestinal carcinoid | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0100570 | HP:0030445 | Pulmonary carcinoid tumor | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | 102 | | |
HP:0100570 | HP:0030445 | Pulmonary carcinoid tumor | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040282 - Frequent | | | 102 | | |
HP:0100570 | HP:0030445 | Pulmonary carcinoid tumor | 1 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | 1 | | |
HP:0100570 | HP:0006723 | Intestinal carcinoid | 1 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0100570 | HP:0006723 | Intestinal carcinoid | 1 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0100570 | HP:0030445 | Pulmonary carcinoid tumor | 1 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | | | |
HP:0100570 | HP:0030445 | Pulmonary carcinoid tumor | 1 | DAXX CL E G H | 1616 | 2681 | ORPHA:100075 | Neuroendocrine tumor of stomach | | | | | | |
HP:0100570 | HP:0030445 | Pulmonary carcinoid tumor | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:363618 | LMNA-related cardiocutaneous progeria syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0100570 | HP:0030445 | Pulmonary carcinoid tumor | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | 462 | | |
HP:0100570 | HP:0006723 | Intestinal carcinoid | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |
HP:0100570 | HP:0006722 | Small intestine carcinoid | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:100093 | Carcinoid syndrome | HP:0040282 - Frequent | | | 129 | | |
HP:0100570 | HP:0006723 | Intestinal carcinoid | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:100093 | Carcinoid syndrome | HP:0040282 - Frequent | | | 129 | | |
HP:0100570 | HP:0030445 | Pulmonary carcinoid tumor | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:100093 | Carcinoid syndrome | HP:0040283 - Occasional | | | 129 | | |
HP:0100570 | HP:0030446 | Atypical pulmonary carcinoid tumor | 2 | ATRX CL E G H | 546 | 886 | ORPHA:100075 | Neuroendocrine tumor of stomach | HP:0040283 - Occasional | | | 169 | | |
HP:0100570 | HP:0030446 | Atypical pulmonary carcinoid tumor | 2 | DAXX CL E G H | 1616 | 2681 | ORPHA:100075 | Neuroendocrine tumor of stomach | HP:0040283 - Occasional | | | | | |
HP:0100570 | HP:0030446 | Atypical pulmonary carcinoid tumor | 2 | SDHD CL E G H | 6392 | 10683 | ORPHA:100093 | Carcinoid syndrome | HP:0040284 - Very rare | | | 129 | | |