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:0006744 | HP:0006744 | Adrenocortical carcinoma | 0 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | . | | | 3179 | | |
HP:0006744 | HP:0006744 | Adrenocortical carcinoma | 0 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | HP:0040284 - Very rare | | | 3179 | | |
HP:0006744 | HP:0006744 | Adrenocortical carcinoma | 0 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | HP:0040284 - Very rare | | | 3179 | | |
HP:0006744 | HP:0006744 | Adrenocortical carcinoma | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0006744 | HP:0006744 | Adrenocortical carcinoma | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0006744 | HP:0006744 | Adrenocortical carcinoma | 0 | CDKN1C CL E G H | 1028 | 1786 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 114 | | |
HP:0006744 | HP:0006744 | Adrenocortical carcinoma | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040280 - Obligate | | | 289 | | |
HP:0006744 | HP:0006744 | Adrenocortical carcinoma | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 289 | | |
HP:0006744 | HP:0006744 | Adrenocortical carcinoma | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0006744 | HP:0006744 | Adrenocortical carcinoma | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0006744 | HP:0006744 | Adrenocortical carcinoma | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 833 | | |
HP:0006744 | HP:0006744 | Adrenocortical carcinoma | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040280 - Obligate | | | 88 | | |
HP:0006744 | HP:0006744 | Adrenocortical carcinoma | 0 | H19-ICR CL E G H | 105259599 | | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | | | |
HP:0006744 | HP:0006744 | Adrenocortical carcinoma | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 9 | | |
HP:0006744 | HP:0006744 | Adrenocortical carcinoma | 0 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 730 | | |
HP:0006744 | HP:0006744 | Adrenocortical carcinoma | 0 | KCNQ1OT1 CL E G H | 10984 | 6295 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 1 | | |
HP:0006744 | HP:0006744 | Adrenocortical carcinoma | 0 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0006744 | HP:0006744 | Adrenocortical carcinoma | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |
HP:0006744 | HP:0006744 | Adrenocortical carcinoma | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040280 - Obligate | | | 134 | | |
HP:0006744 | HP:0006744 | Adrenocortical carcinoma | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040280 - Obligate | | | 238 | | |
HP:0006744 | HP:0006744 | Adrenocortical carcinoma | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040280 - Obligate | | | 911 | | |
HP:0006744 | HP:0006744 | Adrenocortical carcinoma | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:202300 | Adrenocortical carcinoma, pediatric | . | | | 911 | | |
HP:0006744 | HP:0006744 | Adrenocortical carcinoma | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:151623 | Li-Fraumeni syndrome | . | | | 911 | | |
HP:0006744 | HP:0006744 | Adrenocortical carcinoma | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 911 | | |
HP:0006744 | HP:0006744 | Adrenocortical carcinoma | 0 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040280 - Obligate | | | | | |