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:0003002 | HP:0003002 | Breast carcinoma | 0 | AAGAB CL E G H | 79719 | 25662 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040283 - Occasional | | | 7 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | AKT1 CL E G H | 207 | 391 | OMIM:114480 | Breast cancer | . | | | 54 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 54 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | . | | | 54 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | AKT1 CL E G H | 207 | 391 | OMIM:167000 | Ovarian cancer | . | | | 54 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | HP:0040284 - Very rare | | | 3179 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | APC CL E G H | 324 | 583 | OMIM:135290 | Desmoid disease, hereditary | | | | 3179 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | HP:0040284 - Very rare | | | 3179 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | ATM CL E G H | 472 | 795 | OMIM:114480 | Breast cancer | . | | | 3267 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | ATR CL E G H | 545 | 882 | OMIM:614564 | Cutaneous telangiectasia and cancer syndrome, familial | HP:0040283 - Occasional | | | 168 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | AXIN2 CL E G H | 8313 | 904 | OMIM:608615 | OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS | | | | 435 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | BARD1 CL E G H | 580 | 952 | OMIM:114480 | Breast cancer | . | | | 790 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | BARD1 CL E G H | 580 | 952 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 790 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | BRCA1 CL E G H | 672 | 1100 | OMIM:114480 | Breast cancer | . | | | 5769 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | BRCA1 CL E G H | 672 | 1100 | OMIM:604370 | Breast-Ovarian cancer, familial, susceptibility to, 1 | | | | 5769 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 5769 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | BRCA1 CL E G H | 672 | 1100 | OMIM:617883 | Fanconi anemia, complementation group S | . | | | 5769 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 5769 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | BRCA2 CL E G H | 675 | 1101 | OMIM:114480 | Breast cancer | . | | | 7642 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | BRCA2 CL E G H | 675 | 1101 | OMIM:612555 | Breast-Ovarian cancer, familial, susceptibility to, 2 | . | | | 7642 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 7642 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 7642 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | BRIP1 CL E G H | 83990 | 20473 | OMIM:114480 | Breast cancer | . | | | 1086 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 1086 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | CASP8 CL E G H | 841 | 1509 | OMIM:114480 | Breast cancer | . | | | 37 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | CDH1 CL E G H | 999 | 1748 | OMIM:114480 | Breast cancer | . | | | 1003 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | CDH1 CL E G H | 999 | 1748 | OMIM:167000 | Ovarian cancer | . | | | 1003 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 289 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040282 - Frequent | | | 289 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | CHEK2 CL E G H | 11200 | 16627 | OMIM:114480 | Breast cancer | . | | | 833 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 833 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040282 - Frequent | | | 833 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | CHEK2 CL E G H | 11200 | 16627 | OMIM:609265 | LI-FRAUMENI SYNDROME 2; LFS2 | | | | 833 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | COL14A1 CL E G H | 7373 | 2191 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:167000 | Ovarian cancer | . | | | 88 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | ERBB2 CL E G H | 2064 | 3430 | OMIM:167000 | Ovarian cancer | . | | | 77 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | ESR1 CL E G H | 2099 | 3467 | OMIM:114480 | Breast cancer | . | | | 13 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 175 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:562 | McCune-Albright syndrome | HP:0040284 - Very rare | | | 101 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | HMMR CL E G H | 3161 | 5012 | OMIM:114480 | Breast cancer | . | | | | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:163634 | Maffucci syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | IDH2 CL E G H | 3418 | 5383 | ORPHA:163634 | Maffucci syndrome | HP:0040283 - Occasional | | | 29 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | KLLN CL E G H | 100144748 | 37212 | OMIM:615107 | Cowden syndrome 4 | | | | 1 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:114480 | Breast cancer | . | | | 196 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 196 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:3243 | Sweet syndrome | HP:0040284 - Very rare | | | 281 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | MLH1 CL E G H | 4292 | 7127 | ORPHA:587 | Muir-Torre syndrome | HP:0040283 - Occasional | | | 1819 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | MLH1 CL E G H | 4292 | 7127 | OMIM:158320 | Muir-Torre syndrome | . | | | 1819 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | MRE11 CL E G H | 4361 | 7230 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 532 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | MSH2 CL E G H | 4436 | 7325 | ORPHA:587 | Muir-Torre syndrome | HP:0040283 - Occasional | | | 2162 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | MSH2 CL E G H | 4436 | 7325 | OMIM:158320 | Muir-Torre syndrome | . | | | 2162 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | MSH6 CL E G H | 2956 | 7329 | ORPHA:587 | Muir-Torre syndrome | HP:0040283 - Occasional | | | 2232 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | NBN CL E G H | 4683 | 7652 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 706 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040284 - Very rare | | | 1952 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | NQO2 CL E G H | 4835 | 7856 | OMIM:114480 | Breast cancer | . | | | | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | NTHL1 CL E G H | 4913 | 8028 | OMIM:616415 | Familial adenomatous polyposis 3 | . | | | 2 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | NTHL1 CL E G H | 4913 | 8028 | ORPHA:454840 | NTHL1-related attenuated familial adenomatous polyposis | HP:0040282 - Frequent | | | 2 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | OPCML CL E G H | 4978 | 8143 | OMIM:167000 | Ovarian cancer | . | | | 5 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | PALB2 CL E G H | 79728 | 26144 | OMIM:114480 | Breast cancer | . | | | 1349 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 1349 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 1349 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 192 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | PHB1 CL E G H | 5245 | 8912 | OMIM:114480 | Breast cancer | . | | | | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:114480 | Breast cancer | . | | | 162 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 162 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:615108 | Cowden syndrome 5 | . | | | 162 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:167000 | Ovarian cancer | . | | | 162 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | POLD1 CL E G H | 5424 | 9175 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | HP:0040283 - Occasional | | | 731 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | POLE CL E G H | 5426 | 9177 | ORPHA:447877 | Polymerase proofreading-related adenomatous polyposis | HP:0040283 - Occasional | | | 1129 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | PPM1D CL E G H | 8493 | 9277 | OMIM:114480 | Breast cancer | . | | | 22 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | PRKN CL E G H | 5071 | 8607 | OMIM:167000 | Ovarian cancer | . | | | 138 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 948 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | . | | | 948 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 948 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | RAD50 CL E G H | 10111 | 9816 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 789 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | RAD51 CL E G H | 5888 | 9817 | OMIM:114480 | Breast cancer | . | | | 9 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | RAD51C CL E G H | 5889 | 9820 | OMIM:613399 | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3; BROVCA3 | | | | 391 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 391 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | RAD51D CL E G H | 5892 | 9823 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 345 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | RAD54L CL E G H | 8438 | 9826 | OMIM:114480 | Breast cancer | . | | | 5 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | RB1CC1 CL E G H | 9821 | 15574 | OMIM:114480 | Breast cancer | . | | | 2 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | RNF43 CL E G H | 54894 | 18505 | ORPHA:157798 | Serrated polyposis syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 237 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 147 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 129 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | SEC23B CL E G H | 10483 | 10702 | OMIM:616858 | Cowden syndrome 7 | . | | | 60 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | SLC22A18 CL E G H | 5002 | 10964 | OMIM:114480 | Breast cancer | . | | | 3 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | SLC6A17 CL E G H | 388662 | 31399 | ORPHA:457212 | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 504 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | STK11 CL E G H | 6794 | 11389 | ORPHA:2869 | Peutz-Jeghers syndrome | HP:0040283 - Occasional | | | 740 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | STK11 CL E G H | 6794 | 11389 | OMIM:175200 | Peutz-Jeghers syndrome | . | | | 740 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:114480 | Breast cancer | . | | | 911 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 911 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040282 - Frequent | | | 911 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040282 - Frequent | | | 911 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:151623 | Li-Fraumeni syndrome | . | | | 911 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 18 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040283 - Occasional | | | 310 | | |
HP:0003002 | HP:0003002 | Breast carcinoma | 0 | XRCC3 CL E G H | 7517 | 12830 | OMIM:114480 | Breast cancer | . | | | 2 | | |
HP:0003002 | HP:0006625 | Multifocal breast carcinoma | 1 | CL E G H | | | | | | | | | | |