Human Phenotype
Ontology
Grandparent Node: All (HP:0000001) Parent Node: Mode of inheritance (HP:0000005) ..Starting node Somatic mutation (HP:0001428)
Term ID: 1428
Name: Somatic mutation
Synonym:
Definition: A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation.
Comments:
Reference: HP:0001428
Genes and Diseases: Child Nodes: ........Somatic mosaicism (HP:0001442) Sister Nodes: ..Autosomal dominant inheritance (HP:0000006) ..Autosomal recessive inheritance (HP:0000007) ..Contiguous gene syndrome (HP:0001466) ..Genetic anticipation (HP:0003743) ..Mitochondrial inheritance (HP:0001427) ..Multifactorial inheritance (HP:0001426) ..obsolete Familial predisposition (HP:0001472) ..obsolete Gonosomal inheritance (HP:0010985) ..obsolete Heterogeneous (HP:0001425) ..Sporadic (HP:0003745) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0001428 HP:0001428 Somatic mutation 0 ABL1 CL E G H 25 76 OMIM:608232 Leukemia, chronic myeloid . 51 HP:0001428 HP:0001428 Somatic mutation 0 AIP CL E G H 9049 358 OMIM:102200 Pituitary adenoma, growth hormone-secreting, 1 . 95 HP:0001428 HP:0001428 Somatic mutation 0 AKT1 CL E G H 207 391 OMIM:114480 Breast cancer . 54 HP:0001428 HP:0001428 Somatic mutation 0 AKT1 CL E G H 207 391 OMIM:114500 Colorectal cancer . 54 HP:0001428 HP:0001428 Somatic mutation 0 AKT1 CL E G H 207 391 OMIM:167000 Ovarian cancer . 54 HP:0001428 HP:0001428 Somatic mutation 0 AKT1 CL E G H 207 391 OMIM:176920 Proteus syndrome, somatic 54 HP:0001428 HP:0001428 Somatic mutation 0 APC CL E G H 324 583 OMIM:114500 Colorectal cancer . 3179 HP:0001428 HP:0001428 Somatic mutation 0 APC CL E G H 324 583 OMIM:613659 Gastric cancer, somatic . 3179 HP:0001428 HP:0001428 Somatic mutation 0 APC CL E G H 324 583 OMIM:114550 Hepatocellular carcinoma . 3179 HP:0001428 HP:0001428 Somatic mutation 0 AR CL E G H 367 644 OMIM:176807 Prostate cancer . 125 HP:0001428 HP:0001428 Somatic mutation 0 ARHGAP26 CL E G H 23092 17073 OMIM:607785 Juvenile myelomonocytic leukemia . 12 HP:0001428 HP:0001428 Somatic mutation 0 ARMC5 CL E G H 79798 25781 OMIM:615954 ACTH-independent macronodular adrenal hyperplasia 2 . 7 HP:0001428 HP:0001428 Somatic mutation 0 ASCC1 CL E G H 51008 24268 OMIM:614266 Barrett esophagus . 2 HP:0001428 HP:0001428 Somatic mutation 0 ASPSCR1 CL E G H 79058 13825 OMIM:606243 Alveolar soft part sarcoma . HP:0001428 HP:0001428 Somatic mutation 0 ASXL1 CL E G H 171023 18318 OMIM:614286 Myelodysplastic syndrome . 145 HP:0001428 HP:0001428 Somatic mutation 0 ATM CL E G H 472 795 OMIM:114480 Breast cancer . 3267 HP:0001428 HP:0001428 Somatic mutation 0 AURKA CL E G H 6790 11393 OMIM:114500 Colorectal cancer . 1 HP:0001428 HP:0001428 Somatic mutation 0 AXIN1 CL E G H 8312 903 OMIM:114550 Hepatocellular carcinoma . 3 HP:0001428 HP:0001428 Somatic mutation 0 AXIN2 CL E G H 8313 904 OMIM:114500 Colorectal cancer . 435 HP:0001428 HP:0001428 Somatic mutation 0 BARD1 CL E G H 580 952 OMIM:114480 Breast cancer . 790 HP:0001428 HP:0001428 Somatic mutation 0 BAX CL E G H 581 959 OMIM:114500 Colorectal cancer . 4 HP:0001428 HP:0001428 Somatic mutation 0 BAX CL E G H 581 959 OMIM:613065 Leukemia, acute lymphocytic, susceptibility to, 1 . 4 HP:0001428 HP:0001428 Somatic mutation 0 BCL10 CL E G H 8915 989 OMIM:156240 Mesothelioma, malignant . 18 HP:0001428 HP:0001428 Somatic mutation 0 BCL10 CL E G H 8915 989 OMIM:273300 Testicular tumor, somatic . 18 HP:0001428 HP:0001428 Somatic mutation 0 BCR CL E G H 613 1014 OMIM:613065 Leukemia, acute lymphocytic, susceptibility to, 1 . 5 HP:0001428 HP:0001428 Somatic mutation 0 BCR CL E G H 613 1014 OMIM:608232 Leukemia, chronic myeloid . 5 HP:0001428 HP:0001428 Somatic mutation 0 BRAF CL E G H 673 1097 OMIM:114500 Colorectal cancer . 276 HP:0001428 HP:0001428 Somatic mutation 0 BRAF CL E G H 673 1097 OMIM:211980 Lung cancer, susceptibility to . 276 HP:0001428 HP:0001428 Somatic mutation 0 BRCA1 CL E G H 672 1100 OMIM:114480 Breast cancer . 5769 HP:0001428 HP:0001428 Somatic mutation 0 BRCA2 CL E G H 675 1101 OMIM:114480 Breast cancer . 7642 HP:0001428 HP:0001428 Somatic mutation 0 BRCA2 CL E G H 675 1101 OMIM:155255 MEDULLOBLASTOMA . 7642 HP:0001428 HP:0001428 Somatic mutation 0 BRCA2 CL E G H 675 1101 OMIM:176807 Prostate cancer . 7642 HP:0001428 HP:0001428 Somatic mutation 0 BRCA2 CL E G H 675 1101 OMIM:194070 Wilms tumor 1 . 7642 HP:0001428 HP:0001428 Somatic mutation 0 BRIP1 CL E G H 83990 20473 OMIM:114480 Breast cancer . 1086 HP:0001428 HP:0001428 Somatic mutation 0 BUB1 CL E G H 699 1148 OMIM:114500 Colorectal cancer . 5 HP:0001428 HP:0001428 Somatic mutation 0 BUB1B CL E G H 701 1149 OMIM:114500 Colorectal cancer . 76 HP:0001428 HP:0001428 Somatic mutation 0 C1GALT1C1 CL E G H 29071 24338 OMIM:300622 Tn polyagglutination syndrome . 5 HP:0001428 HP:0001428 Somatic mutation 0 CALR CL E G H 811 1455 OMIM:254450 Myelofibrosismyelofibrosis with myeloid metaplasia, included 1 HP:0001428 HP:0001428 Somatic mutation 0 CASP10 CL E G H 843 1500 OMIM:613659 Gastric cancer, somatic . 87 HP:0001428 HP:0001428 Somatic mutation 0 CASP8 CL E G H 841 1509 OMIM:114480 Breast cancer . 37 HP:0001428 HP:0001428 Somatic mutation 0 CASP8 CL E G H 841 1509 OMIM:114550 Hepatocellular carcinoma . 37 HP:0001428 HP:0001428 Somatic mutation 0 CASP8 CL E G H 841 1509 OMIM:211980 Lung cancer, susceptibility to . 37 HP:0001428 HP:0001428 Somatic mutation 0 CBL CL E G H 867 1541 OMIM:607785 Juvenile myelomonocytic leukemia . 317 HP:0001428 HP:0001428 Somatic mutation 0 CCND1 CL E G H 595 1582 OMIM:114500 Colorectal cancer . 1 HP:0001428 HP:0001428 Somatic mutation 0 CCND1 CL E G H 595 1582 OMIM:254500 Multiple myeloma . 1 HP:0001428 HP:0001428 Somatic mutation 0 CDC73 CL E G H 79577 16783 OMIM:608266 Parathyroid carcinoma 169 HP:0001428 HP:0001428 Somatic mutation 0 CDH1 CL E G H 999 1748 OMIM:114480 Breast cancer . 1003 HP:0001428 HP:0001428 Somatic mutation 0 CDH1 CL E G H 999 1748 OMIM:608089 Endometrial carcinoma, somatic . 1003 HP:0001428 HP:0001428 Somatic mutation 0 CDH1 CL E G H 999 1748 OMIM:167000 Ovarian cancer . 1003 HP:0001428 HP:0001428 Somatic mutation 0 CDH1 CL E G H 999 1748 OMIM:176807 Prostate cancer . 1003 HP:0001428 HP:0001428 Somatic mutation 0 CEBPA CL E G H 1050 1833 OMIM:601626 Leukemia, acute myeloid . 65 HP:0001428 HP:0001428 Somatic mutation 0 CHEK2 CL E G H 11200 16627 OMIM:114480 Breast cancer . 833 HP:0001428 HP:0001428 Somatic mutation 0 CHEK2 CL E G H 11200 16627 OMIM:114500 Colorectal cancer . 833 HP:0001428 HP:0001428 Somatic mutation 0 CHEK2 CL E G H 11200 16627 OMIM:259500 Osteosarcoma . 833 HP:0001428 HP:0001428 Somatic mutation 0 CHEK2 CL E G H 11200 16627 OMIM:176807 Prostate cancer . 833 HP:0001428 HP:0001428 Somatic mutation 0 CHIC2 CL E G H 26511 1935 OMIM:601626 Leukemia, acute myeloid . HP:0001428 HP:0001428 Somatic mutation 0 CREB1 CL E G H 1385 2345 OMIM:612160 HISTIOCYTOMA, ANGIOMATOID FIBROUS 1 HP:0001428 HP:0001428 Somatic mutation 0 CTHRC1 CL E G H 115908 18831 OMIM:614266 Barrett esophagus . 1 HP:0001428 HP:0001428 Somatic mutation 0 CTNNB1 CL E G H 1499 2514 OMIM:114500 Colorectal cancer . 88 HP:0001428 HP:0001428 Somatic mutation 0 CTNNB1 CL E G H 1499 2514 OMIM:114550 Hepatocellular carcinoma . 88 HP:0001428 HP:0001428 Somatic mutation 0 CTNNB1 CL E G H 1499 2514 OMIM:155255 MEDULLOBLASTOMA . 88 HP:0001428 HP:0001428 Somatic mutation 0 CTNNB1 CL E G H 1499 2514 OMIM:167000 Ovarian cancer . 88 HP:0001428 HP:0001428 Somatic mutation 0 CTNNB1 CL E G H 1499 2514 OMIM:132600 PILOMATRIXOMA 88 HP:0001428 HP:0001428 Somatic mutation 0 CYP2A6 CL E G H 1548 2610 OMIM:211980 Lung cancer, susceptibility to . 6 HP:0001428 HP:0001428 Somatic mutation 0 DCC CL E G H 1630 2701 OMIM:114500 Colorectal cancer . 36 HP:0001428 HP:0001428 Somatic mutation 0 DCC CL E G H 1630 2701 OMIM:133239 Esophageal cancer, somatic . 36 HP:0001428 HP:0001428 Somatic mutation 0 DLC1 CL E G H 10395 2897 OMIM:114500 Colorectal cancer . 11 HP:0001428 HP:0001428 Somatic mutation 0 DNMT3A CL E G H 1788 2978 OMIM:601626 Leukemia, acute myeloid . 44 HP:0001428 HP:0001428 Somatic mutation 0 EGFR CL E G H 1956 3236 OMIM:211980 Lung cancer, susceptibility to . 257 HP:0001428 HP:0001428 Somatic mutation 0 ELP1 CL E G H 8518 5959 OMIM:155255 MEDULLOBLASTOMA . 133 HP:0001428 HP:0001428 Somatic mutation 0 EP300 CL E G H 2033 3373 OMIM:114500 Colorectal cancer . 250 HP:0001428 HP:0001428 Somatic mutation 0 ERBB2 CL E G H 2064 3430 OMIM:613659 Gastric cancer, somatic . 77 HP:0001428 HP:0001428 Somatic mutation 0 ERBB2 CL E G H 2064 3430 OMIM:137800 Glioma susceptibility 1 . 77 HP:0001428 HP:0001428 Somatic mutation 0 ERBB2 CL E G H 2064 3430 OMIM:211980 Lung cancer, susceptibility to . 77 HP:0001428 HP:0001428 Somatic mutation 0 ERBB2 CL E G H 2064 3430 OMIM:167000 Ovarian cancer . 77 HP:0001428 HP:0001428 Somatic mutation 0 ERCC6 CL E G H 2074 3438 OMIM:211980 Lung cancer, susceptibility to . 199 HP:0001428 HP:0001428 Somatic mutation 0 ESR1 CL E G H 2099 3467 OMIM:114480 Breast cancer . 13 HP:0001428 HP:0001428 Somatic mutation 0 ETV6 CL E G H 2120 3495 OMIM:601626 Leukemia, acute myeloid . 13 HP:0001428 HP:0001428 Somatic mutation 0 EWSR1 CL E G H 2130 3508 OMIM:612219 Ewing sarcoma . HP:0001428 HP:0001428 Somatic mutation 0 EXT1 CL E G H 2131 3512 OMIM:215300 Chondrosarcoma . 96 HP:0001428 HP:0001428 Somatic mutation 0 FASLG CL E G H 356 11936 OMIM:211980 Lung cancer, susceptibility to . 37 HP:0001428 HP:0001428 Somatic mutation 0 FGFR2 CL E G H 2263 3689 OMIM:613659 Gastric cancer, somatic . 175 HP:0001428 HP:0001428 Somatic mutation 0 FGFR3 CL E G H 2261 3690 OMIM:109800 Bladder cancer . 145 HP:0001428 HP:0001428 Somatic mutation 0 FGFR3 CL E G H 2261 3690 OMIM:603956 Cervical cancer . 145 HP:0001428 HP:0001428 Somatic mutation 0 FGFR3 CL E G H 2261 3690 OMIM:114500 Colorectal cancer . 145 HP:0001428 HP:0001428 Somatic mutation 0 FGFR3 CL E G H 2261 3690 OMIM:273300 Testicular tumor, somatic . 145 HP:0001428 HP:0001428 Somatic mutation 0 FLCN CL E G H 201163 27310 OMIM:114500 Colorectal cancer . 332 HP:0001428 HP:0001428 Somatic mutation 0 FLT3 CL E G H 2322 3765 OMIM:613065 Leukemia, acute lymphocytic, susceptibility to, 1 . 61 HP:0001428 HP:0001428 Somatic mutation 0 FLT3 CL E G H 2322 3765 OMIM:601626 Leukemia, acute myeloid . 61 HP:0001428 HP:0001428 Somatic mutation 0 FOXO1 CL E G H 2308 3819 OMIM:268220 Rhabdomyosarcoma 2, alveolar . 1 HP:0001428 HP:0001428 Somatic mutation 0 GATA2 CL E G H 2624 4171 OMIM:601626 Leukemia, acute myeloid . 137 HP:0001428 HP:0001428 Somatic mutation 0 GATA2 CL E G H 2624 4171 OMIM:614286 Myelodysplastic syndrome . 137 HP:0001428 HP:0001428 Somatic mutation 0 GNAS CL E G H 2778 4392 OMIM:219080 ACTH-independent macronodular adrenal hyperplasia . 101 HP:0001428 HP:0001428 Somatic mutation 0 GNB1 CL E G H 2782 4396 OMIM:613065 Leukemia, acute lymphocytic, susceptibility to, 1 . 12 HP:0001428 HP:0001428 Somatic mutation 0 GNB1 CL E G H 2782 4396 OMIM:614286 Myelodysplastic syndrome . 12 HP:0001428 HP:0001428 Somatic mutation 0 GPC3 CL E G H 2719 4451 OMIM:194070 Wilms tumor 1 . 73 HP:0001428 HP:0001428 Somatic mutation 0 GPC4 CL E G H 2239 4452 OMIM:194070 Wilms tumor 1 . HP:0001428 HP:0001428 Somatic mutation 0 GPR161 CL E G H 23432 23694 OMIM:155255 MEDULLOBLASTOMA . 2 HP:0001428 HP:0001428 Somatic mutation 0 H19 CL E G H 283120 4713 OMIM:194070 Wilms tumor 1 . 4 HP:0001428 HP:0001428 Somatic mutation 0 H19-ICR CL E G H 105259599 OMIM:194071 Multiple tumor-associated chromosome region 1 . HP:0001428 HP:0001428 Somatic mutation 0 HDAC4 CL E G H 9759 14063 OMIM:600430 Chromosome 2q37 deletion syndrome . 33 HP:0001428 HP:0001428 Somatic mutation 0 HMMR CL E G H 3161 5012 OMIM:114480 Breast cancer . HP:0001428 HP:0001428 Somatic mutation 0 HRAS CL E G H 3265 5173 OMIM:109800 Bladder cancer . 113 HP:0001428 HP:0001428 Somatic mutation 0 HRAS CL E G H 3265 5173 OMIM:137550 Melanocytic nevus syndrome, congenital 113 HP:0001428 HP:0001428 Somatic mutation 0 HRAS CL E G H 3265 5173 OMIM:188470 Thyroid cancer, nonmedullary, 2 . 113 HP:0001428 HP:0001428 Somatic mutation 0 IDH1 CL E G H 3417 5382 OMIM:137800 Glioma susceptibility 1 . 15 HP:0001428 HP:0001428 Somatic mutation 0 IGF2 CL E G H 3481 5466 OMIM:194070 Wilms tumor 1 . 9 HP:0001428 HP:0001428 Somatic mutation 0 IGF2R CL E G H 3482 5467 OMIM:114550 Hepatocellular carcinoma . 4 HP:0001428 HP:0001428 Somatic mutation 0 IL1B CL E G H 3553 5992 OMIM:613659 Gastric cancer, somatic . 2 HP:0001428 HP:0001428 Somatic mutation 0 IL1RN CL E G H 3557 6000 OMIM:613659 Gastric cancer, somatic . 40 HP:0001428 HP:0001428 Somatic mutation 0 IL6 CL E G H 3569 6018 OMIM:108010 ARTERIOVENOUS MALFORMATIONS OF THE BRAIN 2 HP:0001428 HP:0001428 Somatic mutation 0 IRF1 CL E G H 3659 6116 OMIM:613659 Gastric cancer, somatic . 2 HP:0001428 HP:0001428 Somatic mutation 0 IRF1 CL E G H 3659 6116 OMIM:211980 Lung cancer, susceptibility to . 2 HP:0001428 HP:0001428 Somatic mutation 0 JAK2 CL E G H 3717 6192 OMIM:601626 Leukemia, acute myeloid . 57 HP:0001428 HP:0001428 Somatic mutation 0 JAK2 CL E G H 3717 6192 OMIM:254450 Myelofibrosismyelofibrosis with myeloid metaplasia, included 57 HP:0001428 HP:0001428 Somatic mutation 0 JAK2 CL E G H 3717 6192 OMIM:263300 Polycythemia vera . 57 HP:0001428 HP:0001428 Somatic mutation 0 JAK2 CL E G H 3717 6192 OMIM:614521 Thrombocythemia 3 . 57 HP:0001428 HP:0001428 Somatic mutation 0 KIF1B CL E G H 23095 16636 OMIM:256700 Neuroblastoma, susceptibility to . 202 HP:0001428 HP:0001428 Somatic mutation 0 KIT CL E G H 3815 6342 OMIM:601626 Leukemia, acute myeloid . 327 HP:0001428 HP:0001428 Somatic mutation 0 KIT CL E G H 3815 6342 OMIM:273300 Testicular tumor, somatic . 327 HP:0001428 HP:0001428 Somatic mutation 0 KLF6 CL E G H 1316 2235 OMIM:613659 Gastric cancer, somatic . 18 HP:0001428 HP:0001428 Somatic mutation 0 KLF6 CL E G H 1316 2235 OMIM:176807 Prostate cancer . 18 HP:0001428 HP:0001428 Somatic mutation 0 KRAS CL E G H 3845 6407 OMIM:108010 ARTERIOVENOUS MALFORMATIONS OF THE BRAIN 196 HP:0001428 HP:0001428 Somatic mutation 0 KRAS CL E G H 3845 6407 OMIM:109800 Bladder cancer . 196 HP:0001428 HP:0001428 Somatic mutation 0 KRAS CL E G H 3845 6407 OMIM:114480 Breast cancer . 196 HP:0001428 HP:0001428 Somatic mutation 0 KRAS CL E G H 3845 6407 OMIM:613659 Gastric cancer, somatic . 196 HP:0001428 HP:0001428 Somatic mutation 0 KRAS CL E G H 3845 6407 OMIM:601626 Leukemia, acute myeloid . 196 HP:0001428 HP:0001428 Somatic mutation 0 KRAS CL E G H 3845 6407 OMIM:211980 Lung cancer, susceptibility to . 196 HP:0001428 HP:0001428 Somatic mutation 0 KRAS CL E G H 3845 6407 OMIM:600268 Oculoectodermal syndrome . 196 HP:0001428 HP:0001428 Somatic mutation 0 KRAS CL E G H 3845 6407 OMIM:260350 Pancreatic cancer . 196 HP:0001428 HP:0001428 Somatic mutation 0 KRAS CL E G H 3845 6407 OMIM:614470 RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic 196 HP:0001428 HP:0001428 Somatic mutation 0 LIG4 CL E G H 3981 6601 OMIM:254500 Multiple myeloma . 88 HP:0001428 HP:0001428 Somatic mutation 0 LPP CL E G H 4026 6679 OMIM:601626 Leukemia, acute myeloid . 1 HP:0001428 HP:0001428 Somatic mutation 0 LZTS1 CL E G H 11178 13861 OMIM:133239 Esophageal cancer, somatic . 2 HP:0001428 HP:0001428 Somatic mutation 0 MAD1L1 CL E G H 8379 6762 OMIM:176807 Prostate cancer . 5 HP:0001428 HP:0001428 Somatic mutation 0 MAP3K8 CL E G H 1326 6860 OMIM:211980 Lung cancer, susceptibility to . HP:0001428 HP:0001428 Somatic mutation 0 MCC CL E G H 4163 6935 OMIM:114500 Colorectal cancer . 6 HP:0001428 HP:0001428 Somatic mutation 0 MET CL E G H 4233 7029 OMIM:114550 Hepatocellular carcinoma . 375 HP:0001428 HP:0001428 Somatic mutation 0 MET CL E G H 4233 7029 OMIM:605074 RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1 375 HP:0001428 HP:0001428 Somatic mutation 0 MINPP1 CL E G H 9562 7102 OMIM:188470 Thyroid cancer, nonmedullary, 2 . 3 HP:0001428 HP:0001428 Somatic mutation 0 MLH3 CL E G H 27030 7128 OMIM:114500 Colorectal cancer . 131 HP:0001428 HP:0001428 Somatic mutation 0 MLH3 CL E G H 27030 7128 OMIM:608089 Endometrial carcinoma, somatic . 131 HP:0001428 HP:0001428 Somatic mutation 0 MLLT10 CL E G H 8028 16063 OMIM:601626 Leukemia, acute myeloid . HP:0001428 HP:0001428 Somatic mutation 0 MPL CL E G H 4352 7217 OMIM:254450 Myelofibrosismyelofibrosis with myeloid metaplasia, included 97 HP:0001428 HP:0001428 Somatic mutation 0 MPL CL E G H 4352 7217 OMIM:601977 THROMBOCYTHEMIA 2; THCYT2 97 HP:0001428 HP:0001428 Somatic mutation 0 MSH3 CL E G H 4437 7326 OMIM:608089 Endometrial carcinoma, somatic . 5 HP:0001428 HP:0001428 Somatic mutation 0 MSH6 CL E G H 2956 7329 OMIM:608089 Endometrial carcinoma, somatic . 2232 HP:0001428 HP:0001428 Somatic mutation 0 MSR1 CL E G H 4481 7376 OMIM:614266 Barrett esophagus . 13 HP:0001428 HP:0001428 Somatic mutation 0 MTOR CL E G H 2475 3942 OMIM:607341 Focal cortical dysplasia of taylor . 68 HP:0001428 HP:0001428 Somatic mutation 0 MUTYH CL E G H 4595 7527 OMIM:613659 Gastric cancer, somatic . 592 HP:0001428 HP:0001428 Somatic mutation 0 MXI1 CL E G H 4601 7534 OMIM:176807 Prostate cancer . 4 HP:0001428 HP:0001428 Somatic mutation 0 MYC CL E G H 4609 7553 OMIM:113970 Burkitt lymphoma . 11 HP:0001428 HP:0001428 Somatic mutation 0 MYD88 CL E G H 4615 7562 OMIM:153600 Macroglobulinemia, Waldenstrom, somatic 9 HP:0001428 HP:0001428 Somatic mutation 0 NBN CL E G H 4683 7652 OMIM:613065 Leukemia, acute lymphocytic, susceptibility to, 1 . 706 HP:0001428 HP:0001428 Somatic mutation 0 NEK9 CL E G H 91754 18591 OMIM:617025 NEVUS COMEDONICUS; NC 9 HP:0001428 HP:0001428 Somatic mutation 0 NF1 CL E G H 4763 7765 OMIM:607785 Juvenile myelomonocytic leukemia . 1952 HP:0001428 HP:0001428 Somatic mutation 0 NF2 CL E G H 4771 7773 OMIM:162091 SCHWANNOMATOSIS . 220 HP:0001428 HP:0001428 Somatic mutation 0 NPM1 CL E G H 4869 7910 OMIM:601626 Leukemia, acute myeloid . 12 HP:0001428 HP:0001428 Somatic mutation 0 NQO2 CL E G H 4835 7856 OMIM:114480 Breast cancer . HP:0001428 HP:0001428 Somatic mutation 0 NR4A3 CL E G H 8013 7982 OMIM:612237 Chondrosarcoma, extraskeletal myxoid . HP:0001428 HP:0001428 Somatic mutation 0 NRAS CL E G H 4893 7989 OMIM:114500 Colorectal cancer . 102 HP:0001428 HP:0001428 Somatic mutation 0 NRAS CL E G H 4893 7989 OMIM:137550 Melanocytic nevus syndrome, congenital 102 HP:0001428 HP:0001428 Somatic mutation 0 NRAS CL E G H 4893 7989 OMIM:249400 Neurocutaneous melanosis, somatic 102 HP:0001428 HP:0001428 Somatic mutation 0 NRAS CL E G H 4893 7989 OMIM:614470 RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic 102 HP:0001428 HP:0001428 Somatic mutation 0 NRAS CL E G H 4893 7989 OMIM:188470 Thyroid cancer, nonmedullary, 2 . 102 HP:0001428 HP:0001428 Somatic mutation 0 NUMA1 CL E G H 4926 8059 OMIM:612376 Acute promyelocytic leukemia HP:0001428 HP:0001428 Somatic mutation 0 NUP214 CL E G H 8021 8064 OMIM:613065 Leukemia, acute lymphocytic, susceptibility to, 1 . 1 HP:0001428 HP:0001428 Somatic mutation 0 NUP214 CL E G H 8021 8064 OMIM:601626 Leukemia, acute myeloid . 1 HP:0001428 HP:0001428 Somatic mutation 0 OPCML CL E G H 4978 8143 OMIM:167000 Ovarian cancer . 5 HP:0001428 HP:0001428 Somatic mutation 0 PALB2 CL E G H 79728 26144 OMIM:114480 Breast cancer . 1349 HP:0001428 HP:0001428 Somatic mutation 0 PAX3 CL E G H 5077 8617 OMIM:268220 Rhabdomyosarcoma 2, alveolar . 59 HP:0001428 HP:0001428 Somatic mutation 0 PAX6 CL E G H 5080 8620 OMIM:194072 Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome . 194 HP:0001428 HP:0001428 Somatic mutation 0 PAX7 CL E G H 5081 8621 OMIM:268220 Rhabdomyosarcoma 2, alveolar . HP:0001428 HP:0001428 Somatic mutation 0 PDGFRA CL E G H 5156 8803 OMIM:607685 Hypereosinophilic syndrome, idiopathic . 337 HP:0001428 HP:0001428 Somatic mutation 0 PDGFRL CL E G H 5157 8805 OMIM:114500 Colorectal cancer . 2 HP:0001428 HP:0001428 Somatic mutation 0 PDGFRL CL E G H 5157 8805 OMIM:114550 Hepatocellular carcinoma . 2 HP:0001428 HP:0001428 Somatic mutation 0 PHB1 CL E G H 5245 8912 OMIM:114480 Breast cancer . HP:0001428 HP:0001428 Somatic mutation 0 PICALM CL E G H 8301 15514 OMIM:601626 Leukemia, acute myeloid . 3 HP:0001428 HP:0001428 Somatic mutation 0 PIGA CL E G H 5277 8957 OMIM:300818 Paroxysmal nocturnal hemoglobinuria . 46 HP:0001428 HP:0001428 Somatic mutation 0 PIGT CL E G H 51604 14938 OMIM:615399 Paroxysmal nocturnal hemoglobinuria 2 . 12 HP:0001428 HP:0001428 Somatic mutation 0 PIK3CA CL E G H 5290 8975 OMIM:114480 Breast cancer . 162 HP:0001428 HP:0001428 Somatic mutation 0 PIK3CA CL E G H 5290 8975 OMIM:613089 Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth . 162 HP:0001428 HP:0001428 Somatic mutation 0 PIK3CA CL E G H 5290 8975 OMIM:114500 Colorectal cancer . 162 HP:0001428 HP:0001428 Somatic mutation 0 PIK3CA CL E G H 5290 8975 OMIM:613659 Gastric cancer, somatic . 162 HP:0001428 HP:0001428 Somatic mutation 0 PIK3CA CL E G H 5290 8975 OMIM:114550 Hepatocellular carcinoma . 162 HP:0001428 HP:0001428 Somatic mutation 0 PIK3CA CL E G H 5290 8975 OMIM:182000 KERATOSIS, SEBORRHEIC 162 HP:0001428 HP:0001428 Somatic mutation 0 PIK3CA CL E G H 5290 8975 OMIM:211980 Lung cancer, susceptibility to . 162 HP:0001428 HP:0001428 Somatic mutation 0 PIK3CA CL E G H 5290 8975 OMIM:155500 MACRODACTYLY . 162 HP:0001428 HP:0001428 Somatic mutation 0 PIK3CA CL E G H 5290 8975 OMIM:602501 Megalencephaly-Capillary malformation-polymicrogyria syndrome . 162 HP:0001428 HP:0001428 Somatic mutation 0 PIK3CA CL E G H 5290 8975 OMIM:167000 Ovarian cancer . 162 HP:0001428 HP:0001428 Somatic mutation 0 PLA2G2A CL E G H 5320 9031 OMIM:114500 Colorectal cancer . 1 HP:0001428 HP:0001428 Somatic mutation 0 PLAG1 CL E G H 5324 9045 OMIM:181030 Salivary gland adenoma, pleomorphic . 3 HP:0001428 HP:0001428 Somatic mutation 0 POU6F2 CL E G H 11281 21694 OMIM:601583 Wilms tumor 5 . 2 HP:0001428 HP:0001428 Somatic mutation 0 PPM1D CL E G H 8493 9277 OMIM:114480 Breast cancer . 22 HP:0001428 HP:0001428 Somatic mutation 0 PPP2R1B CL E G H 5519 9303 OMIM:211980 Lung cancer, susceptibility to . 1 HP:0001428 HP:0001428 Somatic mutation 0 PRCC CL E G H 5546 9343 OMIM:605074 RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1 HP:0001428 HP:0001428 Somatic mutation 0 PRKN CL E G H 5071 8607 OMIM:211980 Lung cancer, susceptibility to . 138 HP:0001428 HP:0001428 Somatic mutation 0 PRKN CL E G H 5071 8607 OMIM:167000 Ovarian cancer . 138 HP:0001428 HP:0001428 Somatic mutation 0 PTCH2 CL E G H 8643 9586 OMIM:155255 MEDULLOBLASTOMA . 40 HP:0001428 HP:0001428 Somatic mutation 0 PTEN CL E G H 5728 9588 OMIM:176807 Prostate cancer . 948 HP:0001428 HP:0001428 Somatic mutation 0 PTPN11 CL E G H 5781 9644 OMIM:607785 Juvenile myelomonocytic leukemia . 291 HP:0001428 HP:0001428 Somatic mutation 0 PTPN12 CL E G H 5782 9645 OMIM:114500 Colorectal cancer . 1 HP:0001428 HP:0001428 Somatic mutation 0 PTPRJ CL E G H 5795 9673 OMIM:114500 Colorectal cancer . 3 HP:0001428 HP:0001428 Somatic mutation 0 RAD51 CL E G H 5888 9817 OMIM:114480 Breast cancer . 9 HP:0001428 HP:0001428 Somatic mutation 0 RAD54B CL E G H 25788 17228 OMIM:114500 Colorectal cancer . 2 HP:0001428 HP:0001428 Somatic mutation 0 RAD54L CL E G H 8438 9826 OMIM:114480 Breast cancer . 5 HP:0001428 HP:0001428 Somatic mutation 0 RARA CL E G H 5914 9864 OMIM:612376 Acute promyelocytic leukemia 2 HP:0001428 HP:0001428 Somatic mutation 0 RB1 CL E G H 5925 9884 OMIM:109800 Bladder cancer . 365 HP:0001428 HP:0001428 Somatic mutation 0 RB1 CL E G H 5925 9884 OMIM:259500 Osteosarcoma . 365 HP:0001428 HP:0001428 Somatic mutation 0 RB1 CL E G H 5925 9884 OMIM:180200 RETINOBLASTOMA . 365 HP:0001428 HP:0001428 Somatic mutation 0 RB1CC1 CL E G H 9821 15574 OMIM:114480 Breast cancer . 2 HP:0001428 HP:0001428 Somatic mutation 0 RNF6 CL E G H 6049 10069 OMIM:133239 Esophageal cancer, somatic . 3 HP:0001428 HP:0001428 Somatic mutation 0 RPS14 CL E G H 6208 10387 OMIM:153550 Chromosome 5q deletion syndrome HP:0001428 HP:0001428 Somatic mutation 0 RUNX1 CL E G H 861 10471 OMIM:601626 Leukemia, acute myeloid . 181 HP:0001428 HP:0001428 Somatic mutation 0 SF3B1 CL E G H 23451 10768 OMIM:614286 Myelodysplastic syndrome . 19 HP:0001428 HP:0001428 Somatic mutation 0 SH2B3 CL E G H 10019 29605 OMIM:254450 Myelofibrosismyelofibrosis with myeloid metaplasia, included 4 HP:0001428 HP:0001428 Somatic mutation 0 SH3GL1 CL E G H 6455 10830 OMIM:601626 Leukemia, acute myeloid . HP:0001428 HP:0001428 Somatic mutation 0 SLC22A18 CL E G H 5002 10964 OMIM:114480 Breast cancer . 3 HP:0001428 HP:0001428 Somatic mutation 0 SLC22A18 CL E G H 5002 10964 OMIM:211980 Lung cancer, susceptibility to . 3 HP:0001428 HP:0001428 Somatic mutation 0 SMAD4 CL E G H 4089 6770 OMIM:260350 Pancreatic cancer . 504 HP:0001428 HP:0001428 Somatic mutation 0 SMARCB1 CL E G H 6598 11103 OMIM:162091 SCHWANNOMATOSIS . 87 HP:0001428 HP:0001428 Somatic mutation 0 SRC CL E G H 6714 11283 OMIM:114500 Colorectal cancer . 15 HP:0001428 HP:0001428 Somatic mutation 0 SRGAP1 CL E G H 57522 17382 OMIM:188470 Thyroid cancer, nonmedullary, 2 . 3 HP:0001428 HP:0001428 Somatic mutation 0 SSX1 CL E G H 6756 11335 OMIM:300813 Sarcoma, synovial . HP:0001428 HP:0001428 Somatic mutation 0 SSX2 CL E G H 6757 11336 OMIM:300813 Sarcoma, synovial . HP:0001428 HP:0001428 Somatic mutation 0 STK11 CL E G H 6794 11389 OMIM:260350 Pancreatic cancer . 740 HP:0001428 HP:0001428 Somatic mutation 0 STK11 CL E G H 6794 11389 OMIM:273300 Testicular tumor, somatic . 740 HP:0001428 HP:0001428 Somatic mutation 0 SUFU CL E G H 51684 16466 OMIM:155255 MEDULLOBLASTOMA . 124 HP:0001428 HP:0001428 Somatic mutation 0 TAF15 CL E G H 8148 11547 OMIM:612237 Chondrosarcoma, extraskeletal myxoid . HP:0001428 HP:0001428 Somatic mutation 0 TAL1 CL E G H 6886 11556 OMIM:613065 Leukemia, acute lymphocytic, susceptibility to, 1 . HP:0001428 HP:0001428 Somatic mutation 0 TAL2 CL E G H 6887 11557 OMIM:613065 Leukemia, acute lymphocytic, susceptibility to, 1 . HP:0001428 HP:0001428 Somatic mutation 0 TERT CL E G H 7015 11730 OMIM:601626 Leukemia, acute myeloid . 238 HP:0001428 HP:0001428 Somatic mutation 0 TET2 CL E G H 54790 25941 OMIM:614286 Myelodysplastic syndrome . 3 HP:0001428 HP:0001428 Somatic mutation 0 TFE3 CL E G H 7030 11752 OMIM:300854 Renal cell carcinoma, xp11-associated . HP:0001428 HP:0001428 Somatic mutation 0 TGFBR2 CL E G H 7048 11773 OMIM:133239 Esophageal cancer, somatic . 253 HP:0001428 HP:0001428 Somatic mutation 0 TLR2 CL E G H 7097 11848 OMIM:114500 Colorectal cancer . 5 HP:0001428 HP:0001428 Somatic mutation 0 TP53 CL E G H 7157 11998 OMIM:114480 Breast cancer . 911 HP:0001428 HP:0001428 Somatic mutation 0 TP53 CL E G H 7157 11998 OMIM:114500 Colorectal cancer . 911 HP:0001428 HP:0001428 Somatic mutation 0 TP53 CL E G H 7157 11998 OMIM:137800 Glioma susceptibility 1 . 911 HP:0001428 HP:0001428 Somatic mutation 0 TP53 CL E G H 7157 11998 OMIM:114550 Hepatocellular carcinoma . 911 HP:0001428 HP:0001428 Somatic mutation 0 TP53 CL E G H 7157 11998 OMIM:259500 Osteosarcoma . 911 HP:0001428 HP:0001428 Somatic mutation 0 TP53 CL E G H 7157 11998 OMIM:260350 Pancreatic cancer . 911 HP:0001428 HP:0001428 Somatic mutation 0 TSC1 CL E G H 7248 12362 OMIM:607341 Focal cortical dysplasia of taylor . 1090 HP:0001428 HP:0001428 Somatic mutation 0 TSC1 CL E G H 7248 12362 OMIM:606690 LYMPHANGIOLEIOMYOMATOSIS . 1090 HP:0001428 HP:0001428 Somatic mutation 0 TSC2 CL E G H 7249 12363 OMIM:607341 Focal cortical dysplasia of taylor . 2738 HP:0001428 HP:0001428 Somatic mutation 0 TSC2 CL E G H 7249 12363 OMIM:606690 LYMPHANGIOLEIOMYOMATOSIS . 2738 HP:0001428 HP:0001428 Somatic mutation 0 WT1 CL E G H 7490 12796 OMIM:194080 Denys-Drash syndrome . 177 HP:0001428 HP:0001428 Somatic mutation 0 WT1 CL E G H 7490 12796 OMIM:136680 Frasier syndrome . 177 HP:0001428 HP:0001428 Somatic mutation 0 WT1 CL E G H 7490 12796 OMIM:156240 Mesothelioma, malignant . 177 HP:0001428 HP:0001428 Somatic mutation 0 WT1 CL E G H 7490 12796 OMIM:194070 Wilms tumor 1 . 177 HP:0001428 HP:0001428 Somatic mutation 0 WT1 CL E G H 7490 12796 OMIM:194072 Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome . 177 HP:0001428 HP:0001428 Somatic mutation 0 WWOX CL E G H 51741 12799 OMIM:133239 Esophageal cancer, somatic . 149 HP:0001428 HP:0001428 Somatic mutation 0 XRCC3 CL E G H 7517 12830 OMIM:114480 Breast cancer . 2 HP:0001428 HP:0001428 Somatic mutation 0 ZFHX3 CL E G H 463 777 OMIM:176807 Prostate cancer . 6
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
