Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | | | | 3179 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | | | | 3179 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 247 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | | | | 1 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 2 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 102 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | | | | 102 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | CDKN1C CL E G H | 1028 | 1786 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 114 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | | | | 289 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | | | | 289 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 1 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | | | | 833 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | CLCN2 CL E G H | 1181 | 2020 | ORPHA:404 | Familial hyperaldosteronism type II | | | | 44 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | | | | 88 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:403 | Familial hyperaldosteronism type I | | | | 112 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:403 | Familial hyperaldosteronism type I | | | | 73 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 44 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 112 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 301 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | H19-ICR CL E G H | 105259599 | | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:163634 | Maffucci syndrome | | | | 15 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | IDH2 CL E G H | 3418 | 5383 | ORPHA:163634 | Maffucci syndrome | | | | 29 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 9 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | KCNE3 CL E G H | 10008 | 6243 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 73 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 730 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | KCNQ1OT1 CL E G H | 10984 | 6295 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 1 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 202 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 84 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 4 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | | | | 1 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:97279 | Insulinoma | HP:0040283 - Occasional | | | 462 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | | | | 462 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 462 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 1952 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | | | | 134 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:109 | Bannayan-Riley-Ruvalcaba syndrome | | | | 948 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 572 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 572 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 263 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 304 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 55 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 237 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:115310 | Paragangliomas 4 | | | | 237 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 237 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 147 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | SDHC CL E G H | 6391 | 10682 | OMIM:605373 | Paragangliomas 3 | | | | 147 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 129 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:168000 | Paragangliomas 1 | | | | 129 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 129 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | | | | 238 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 131 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | | | | 911 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:202300 | Adrenocortical carcinoma, pediatric | | | | 911 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:151623 | Li-Fraumeni syndrome | | | | 911 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | | | | 911 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 490 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 490 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | | | | 490 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:97279 | Insulinoma | HP:0040283 - Occasional | | | 7 | | |
HP:0100631 | HP:0100631 | Neoplasm of the adrenal gland | 0 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | | | | | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | | | | 3179 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | | | | 3179 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 247 | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | | | | 1 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 2 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 102 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | | | | 102 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | CDKN1C CL E G H | 1028 | 1786 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 114 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | | | | 289 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | | | | 289 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 1 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | | | | 833 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | CLCN2 CL E G H | 1181 | 2020 | ORPHA:404 | Familial hyperaldosteronism type II | | | | 44 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | | | | 88 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:403 | Familial hyperaldosteronism type I | | | | 112 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:403 | Familial hyperaldosteronism type I | | | | 73 | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 44 | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 112 | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 301 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | H19-ICR CL E G H | 105259599 | | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | IDH1 CL E G H | 3417 | 5382 | ORPHA:163634 | Maffucci syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | IDH2 CL E G H | 3418 | 5383 | ORPHA:163634 | Maffucci syndrome | HP:0040283 - Occasional | | | 29 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | IGF2 CL E G H | 3481 | 5466 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 9 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | KCNE3 CL E G H | 10008 | 6243 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 73 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 730 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | KCNQ1OT1 CL E G H | 10984 | 6295 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 1 | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 202 | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 84 | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 4 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | | | | 1 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | | | | 462 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 462 | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 1952 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | | | | 134 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:109 | Bannayan-Riley-Ruvalcaba syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 572 | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 572 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 263 | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 304 | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 55 | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 237 | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | SDHB CL E G H | 6390 | 10681 | OMIM:115310 | Paragangliomas 4 | | | | 237 | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 237 | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 147 | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | SDHC CL E G H | 6391 | 10682 | OMIM:605373 | Paragangliomas 3 | | | | 147 | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 129 | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | SDHD CL E G H | 6392 | 10683 | OMIM:168000 | Paragangliomas 1 | | | | 129 | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 129 | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | | | | 238 | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 131 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | | | | 911 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | TP53 CL E G H | 7157 | 11998 | OMIM:202300 | Adrenocortical carcinoma, pediatric | | | | 911 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | TP53 CL E G H | 7157 | 11998 | OMIM:151623 | Li-Fraumeni syndrome | | | | 911 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | | | | 911 | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 490 | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 490 | | |
HP:0100631 | HP:0100642 | Neoplasm of the adrenal medulla | 1 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | | | | 490 | | |
HP:0100631 | HP:0100641 | Neoplasm of the adrenal cortex | 1 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | | | | | | |
HP:0100631 | HP:0006744 | Adrenocortical carcinoma | 2 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | . | | | 3179 | | |
HP:0100631 | HP:0008256 | Adrenocortical adenoma | 2 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0100631 | HP:0008256 | Adrenocortical adenoma | 2 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | HP:0040284 - Very rare | | | 3179 | | |
HP:0100631 | HP:0006744 | Adrenocortical carcinoma | 2 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | HP:0040284 - Very rare | | | 3179 | | |
HP:0100631 | HP:0006744 | Adrenocortical carcinoma | 2 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | HP:0040284 - Very rare | | | 3179 | | |
HP:0100631 | HP:0008256 | Adrenocortical adenoma | 2 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | HP:0040283 - Occasional | | | 3179 | | |
HP:0100631 | HP:0008256 | Adrenocortical adenoma | 2 | CACNA1S CL E G H | 779 | 1397 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040284 - Very rare | | | 247 | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040282 - Frequent | | | 1 | | |
HP:0100631 | HP:0006744 | Adrenocortical carcinoma | 2 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0100631 | HP:0006744 | Adrenocortical carcinoma | 2 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0100631 | HP:0008256 | Adrenocortical adenoma | 2 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040282 - Frequent | | | 102 | | |
HP:0100631 | HP:0006744 | Adrenocortical carcinoma | 2 | CDKN1C CL E G H | 1028 | 1786 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 114 | | |
HP:0100631 | HP:0006744 | Adrenocortical carcinoma | 2 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040280 - Obligate | | | 289 | | |
HP:0100631 | HP:0006744 | Adrenocortical carcinoma | 2 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 289 | | |
HP:0100631 | HP:0006744 | Adrenocortical carcinoma | 2 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0100631 | HP:0006744 | Adrenocortical carcinoma | 2 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0100631 | HP:0006744 | Adrenocortical carcinoma | 2 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 833 | | |
HP:0100631 | HP:0008256 | Adrenocortical adenoma | 2 | CLCN2 CL E G H | 1181 | 2020 | ORPHA:404 | Familial hyperaldosteronism type II | | | | 44 | | |
HP:0100631 | HP:0006744 | Adrenocortical carcinoma | 2 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040280 - Obligate | | | 88 | | |
HP:0100631 | HP:0008256 | Adrenocortical adenoma | 2 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:403 | Familial hyperaldosteronism type I | | | | 112 | | |
HP:0100631 | HP:0008256 | Adrenocortical adenoma | 2 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:403 | Familial hyperaldosteronism type I | | | | 73 | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040281 - Very frequent | | | 44 | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040281 - Very frequent | | | 112 | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 301 | | |
HP:0100631 | HP:0006744 | Adrenocortical carcinoma | 2 | H19-ICR CL E G H | 105259599 | | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | | | |
HP:0100631 | HP:0006744 | Adrenocortical carcinoma | 2 | IGF2 CL E G H | 3481 | 5466 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 9 | | |
HP:0100631 | HP:0008256 | Adrenocortical adenoma | 2 | KCNE3 CL E G H | 10008 | 6243 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040284 - Very rare | | | 73 | | |
HP:0100631 | HP:0006744 | Adrenocortical carcinoma | 2 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 730 | | |
HP:0100631 | HP:0006744 | Adrenocortical carcinoma | 2 | KCNQ1OT1 CL E G H | 10984 | 6295 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 1 | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 202 | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 84 | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 4 | | |
HP:0100631 | HP:0006744 | Adrenocortical carcinoma | 2 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0100631 | HP:0008256 | Adrenocortical adenoma | 2 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | | | | 462 | | |
HP:0100631 | HP:0006744 | Adrenocortical carcinoma | 2 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 1952 | | |
HP:0100631 | HP:0006744 | Adrenocortical carcinoma | 2 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040280 - Obligate | | | 134 | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 572 | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040281 - Very frequent | | | 572 | | |
HP:0100631 | HP:0008256 | Adrenocortical adenoma | 2 | SCN4A CL E G H | 6329 | 10591 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040284 - Very rare | | | 263 | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 304 | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 55 | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 237 | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | SDHB CL E G H | 6390 | 10681 | OMIM:115310 | Paragangliomas 4 | . | | | 237 | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040281 - Very frequent | | | 237 | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 147 | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | SDHC CL E G H | 6391 | 10682 | OMIM:605373 | Paragangliomas 3 | . | | | 147 | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 129 | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | SDHD CL E G H | 6392 | 10683 | OMIM:168000 | Paragangliomas 1 | | | | 129 | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040281 - Very frequent | | | 129 | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | | | |
HP:0100631 | HP:0006744 | Adrenocortical carcinoma | 2 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040280 - Obligate | | | 238 | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 131 | | |
HP:0100631 | HP:0006744 | Adrenocortical carcinoma | 2 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040280 - Obligate | | | 911 | | |
HP:0100631 | HP:0006744 | Adrenocortical carcinoma | 2 | TP53 CL E G H | 7157 | 11998 | OMIM:202300 | Adrenocortical carcinoma, pediatric | . | | | 911 | | |
HP:0100631 | HP:0006744 | Adrenocortical carcinoma | 2 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 911 | | |
HP:0100631 | HP:0006744 | Adrenocortical carcinoma | 2 | TP53 CL E G H | 7157 | 11998 | OMIM:151623 | Li-Fraumeni syndrome | . | | | 911 | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040281 - Very frequent | | | 490 | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040281 - Very frequent | | | 490 | | |
HP:0100631 | HP:0006748 | Adrenal pheochromocytoma | 2 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040282 - Frequent | | | 490 | | |
HP:0100631 | HP:0006744 | Adrenocortical carcinoma | 2 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040280 - Obligate | | | | | |
HP:0100631 | HP:0011745 | Non-secretory adrenocortical adenoma | 3 | CL E G H | | | | | | | | | | |
HP:0100631 | HP:0011746 | Secretory adrenocortical adenoma | 3 | CLCN2 CL E G H | 1181 | 2020 | ORPHA:404 | Familial hyperaldosteronism type II | HP:0040282 - Frequent | | | 44 | | |
HP:0100631 | HP:0011746 | Secretory adrenocortical adenoma | 3 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:403 | Familial hyperaldosteronism type I | HP:0040283 - Occasional | | | 112 | | |
HP:0100631 | HP:0011746 | Secretory adrenocortical adenoma | 3 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:403 | Familial hyperaldosteronism type I | HP:0040283 - Occasional | | | 73 | | |