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:0002885 | HP:0002885 | Medulloblastoma | 0 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | HP:0040284 - Very rare | | | 3179 | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | HP:0040284 - Very rare | | | 3179 | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | APC CL E G H | 324 | 583 | ORPHA:99818 | Turcot syndrome with polyposis | HP:0040281 - Very frequent | | | 3179 | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | BRCA2 CL E G H | 675 | 1101 | OMIM:613029 | Glioma susceptibility 3 | . | | | 7642 | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | BRCA2 CL E G H | 675 | 1101 | OMIM:155255 | MEDULLOBLASTOMA | . | | | 7642 | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 289 | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 833 | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:155255 | MEDULLOBLASTOMA | . | | | 88 | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | DICER1 CL E G H | 23405 | 17098 | ORPHA:276399 | Familial multinodular goiter | | | | 670 | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | DICER1 CL E G H | 23405 | 17098 | OMIM:601200 | PLEUROPULMONARY BLASTOMA; PPB | | | | 670 | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | ELP1 CL E G H | 8518 | 5959 | OMIM:155255 | MEDULLOBLASTOMA | . | | | 133 | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | GPR161 CL E G H | 23432 | 23694 | OMIM:155255 | MEDULLOBLASTOMA | . | | | 2 | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | KEAP1 CL E G H | 9817 | 23177 | ORPHA:276399 | Familial multinodular goiter | | | | | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 1819 | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | . | | | 706 | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | PALB2 CL E G H | 79728 | 26144 | OMIM:610832 | Fanconi anemia, complementation group N | . | | | 1349 | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:77301 | Monosomy 9q22.3 | HP:0040281 - Very frequent | | | 665 | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:155255 | MEDULLOBLASTOMA | . | | | 40 | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:609322 | Rhabdoid tumor predisposition syndrome 1 | . | | | 87 | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:155255 | MEDULLOBLASTOMA | . | | | 124 | | |
HP:0002885 | HP:0002885 | Medulloblastoma | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 911 | | |
HP:0002885 | HP:0007129 | Cerebellar medulloblastoma | 1 | APC CL E G H | 324 | 583 | ORPHA:99818 | Turcot syndrome with polyposis | HP:0040282 - Frequent | | | 3179 | | |
HP:0002885 | HP:0007129 | Cerebellar medulloblastoma | 1 | DICER1 CL E G H | 23405 | 17098 | ORPHA:276399 | Familial multinodular goiter | HP:0040284 - Very rare | | | 670 | | |
HP:0002885 | HP:0007129 | Cerebellar medulloblastoma | 1 | KEAP1 CL E G H | 9817 | 23177 | ORPHA:276399 | Familial multinodular goiter | HP:0040284 - Very rare | | | | | |