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:0002574 | HP:0002574 | Episodic abdominal pain | 0 | ATRX CL E G H | 546 | 886 | ORPHA:100075 | Neuroendocrine tumor of stomach | HP:0040282 - Frequent | | | 169 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | HP:0040283 - Occasional | | | 169 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040282 - Frequent | | | 102 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | HP:0040282 - Frequent | | | 101 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | DAXX CL E G H | 1616 | 2681 | ORPHA:100075 | Neuroendocrine tumor of stomach | HP:0040282 - Frequent | | | | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 44 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 112 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | ERBB3 CL E G H | 2065 | 3431 | OMIM:243180 | Visceral neuropathy, familial, autosomal recessive | . | | | 12 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | ESR1 CL E G H | 2099 | 3467 | ORPHA:785 | Estrogen resistance syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | F12 CL E G H | 2161 | 3530 | OMIM:610618 | ANGIOEDEMA, HEREDITARY, TYPE III; HAE3 | | | | 28 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 301 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:370348 | Peripheral primitive neuroectodermal tumor | HP:0040283 - Occasional | | | 8 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | HP:0040281 - Very frequent | | | 173 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | . | | | 80 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 202 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | LPL CL E G H | 4023 | 6677 | OMIM:238600 | Type I hyperlipoproteinemia | . | | | 106 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 84 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 94 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 4 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 26 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 1952 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 13 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040282 - Frequent | | | 46 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:101111 | Spinocerebellar ataxia type 25 | HP:0040283 - Occasional | | | 60 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 304 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 55 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 147 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:100093 | Carcinoid syndrome | HP:0040282 - Frequent | | | 129 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 45 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 131 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 85 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 490 | | |
HP:0002574 | HP:0002574 | Episodic abdominal pain | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 490 | | |