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:0002668 | HP:0002668 | Paraganglioma | 0 | ATRX CL E G H | 546 | 886 | ORPHA:100075 | Neuroendocrine tumor of stomach | HP:0040284 - Very rare | | | 169 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040284 - Very rare | | | 1 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | CCND1 CL E G H | 595 | 1582 | OMIM:193300 | Von hippel-lindau syndrome | . | | | 1 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | DAXX CL E G H | 1616 | 2681 | ORPHA:100075 | Neuroendocrine tumor of stomach | HP:0040284 - Very rare | | | | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | DLST CL E G H | 1743 | 2911 | OMIM:618475 | Paragangliomas 7 | . | | | | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040281 - Very frequent | | | 44 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040281 - Very frequent | | | 112 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 301 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 202 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 84 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 4 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | | | | 1952 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 1952 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 572 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040281 - Very frequent | | | 572 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 304 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:614165 | PARAGANGLIOMAS 5; PGL5 | | | | 304 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 55 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | SDHAF2 CL E G H | 54949 | 26034 | OMIM:601650 | Paragangliomas 2 | | | | 55 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:606864 | Carney-Stratakis syndrome | . | | | 237 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:97286 | Carney-Stratakis syndrome | HP:0040281 - Very frequent | | | 237 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 237 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:115310 | Paragangliomas 4 | . | | | 237 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040281 - Very frequent | | | 237 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:97286 | Carney-Stratakis syndrome | HP:0040281 - Very frequent | | | 147 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | SDHC CL E G H | 6391 | 10682 | OMIM:606864 | Carney-Stratakis syndrome | . | | | 147 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 147 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | SDHC CL E G H | 6391 | 10682 | OMIM:605373 | Paragangliomas 3 | | | | 147 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:100093 | Carcinoid syndrome | HP:0040284 - Very rare | | | 129 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:97286 | Carney-Stratakis syndrome | HP:0040281 - Very frequent | | | 129 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:606864 | Carney-Stratakis syndrome | . | | | 129 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 129 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:168000 | Paragangliomas 1 | | | | 129 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040281 - Very frequent | | | 129 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | SLC25A11 CL E G H | 8402 | 10981 | OMIM:618464 | PARAGANGLIOMAS 6; PGL6 | | | | | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 131 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 490 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040281 - Very frequent | | | 490 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040284 - Very rare | | | 490 | | |
HP:0002668 | HP:0002668 | Paraganglioma | 0 | VHL CL E G H | 7428 | 12687 | OMIM:193300 | Von hippel-lindau syndrome | . | | | 490 | | |
HP:0002668 | HP:0100636 | Pulmonary paraglioma | 1 | CL E G H | | | | | | | | | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 44 | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 112 | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 301 | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 202 | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 84 | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 4 | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | | | | 1952 | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 1952 | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 304 | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 55 | | |
HP:0002668 | HP:0030074 | Chemodectoma | 1 | SDHAF2 CL E G H | 54949 | 26034 | OMIM:601650 | Paragangliomas 2 | . | | | 55 | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | SDHAF2 CL E G H | 54949 | 26034 | OMIM:601650 | Paragangliomas 2 | | | | 55 | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0002668 | HP:0030074 | Chemodectoma | 1 | SDHB CL E G H | 6390 | 10681 | OMIM:115310 | Paragangliomas 4 | . | | | 237 | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | SDHB CL E G H | 6390 | 10681 | OMIM:115310 | Paragangliomas 4 | HP:0040283 - Occasional | | | 237 | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 147 | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | SDHC CL E G H | 6391 | 10682 | OMIM:605373 | Paragangliomas 3 | | | | 147 | | |
HP:0002668 | HP:0030074 | Chemodectoma | 1 | SDHC CL E G H | 6391 | 10682 | OMIM:605373 | Paragangliomas 3 | . | | | 147 | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | SDHD CL E G H | 6392 | 10683 | OMIM:168000 | Paragangliomas 1 | | | | 129 | | |
HP:0002668 | HP:0030074 | Chemodectoma | 1 | SDHD CL E G H | 6392 | 10683 | OMIM:168000 | Paragangliomas 1 | . | | | 129 | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 131 | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 490 | | |
HP:0002668 | HP:0002864 | Paraganglioma of head and neck | 1 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 490 | | |
HP:0002668 | HP:0100635 | Carotid paraganglioma | 2 | CL E G H | | | | | | | | | | |
HP:0002668 | HP:0003001 | Glomus jugular tumor | 2 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040284 - Very rare | | | 1952 | | |
HP:0002668 | HP:0006715 | Glomus tympanicum paraganglioma | 2 | SDHAF2 CL E G H | 54949 | 26034 | OMIM:601650 | Paragangliomas 2 | . | | | 55 | | |
HP:0002668 | HP:0002886 | Vagal paraganglioma | 2 | SDHAF2 CL E G H | 54949 | 26034 | OMIM:601650 | Paragangliomas 2 | . | | | 55 | | |
HP:0002668 | HP:0003001 | Glomus jugular tumor | 2 | SDHAF2 CL E G H | 54949 | 26034 | OMIM:601650 | Paragangliomas 2 | . | | | 55 | | |
HP:0002668 | HP:0003001 | Glomus jugular tumor | 2 | SDHB CL E G H | 6390 | 10681 | OMIM:115310 | Paragangliomas 4 | . | | | 237 | | |
HP:0002668 | HP:0003001 | Glomus jugular tumor | 2 | SDHC CL E G H | 6391 | 10682 | OMIM:605373 | Paragangliomas 3 | . | | | 147 | | |
HP:0002668 | HP:0003001 | Glomus jugular tumor | 2 | SDHD CL E G H | 6392 | 10683 | OMIM:168000 | Paragangliomas 1 | . | | | 129 | | |
HP:0002668 | HP:0006715 | Glomus tympanicum paraganglioma | 2 | SDHD CL E G H | 6392 | 10683 | OMIM:168000 | Paragangliomas 1 | . | | | 129 | | |
HP:0002668 | HP:0002886 | Vagal paraganglioma | 2 | SDHD CL E G H | 6392 | 10683 | OMIM:168000 | Paragangliomas 1 | . | | | 129 | | |