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:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 5 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 76 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | | | | 76 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | | | | 289 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 17 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | | | | 833 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | DICER1 CL E G H | 23405 | 17098 | ORPHA:276399 | Familial multinodular goiter | | | | 670 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | DICER1 CL E G H | 23405 | 17098 | OMIM:601200 | PLEUROPULMONARY BLASTOMA; PPB | | | | 670 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | DICER1 CL E G H | 23405 | 17098 | OMIM:180295 | RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2 | | | | 670 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | FOXO1 CL E G H | 2308 | 3819 | OMIM:268220 | Rhabdomyosarcoma 2, alveolar | | | | 1 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | | | | 113 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:2874 | Phakomatosis pigmentokeratotica | | | | 113 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | | | | 23 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | | | | 23 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | KEAP1 CL E G H | 9817 | 23177 | ORPHA:276399 | Familial multinodular goiter | | | | | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | MC1R CL E G H | 4157 | 6929 | ORPHA:626 | Large congenital melanocytic nevus | | | | 124 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | | | | 1 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 1819 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | NBN CL E G H | 4683 | 7652 | ORPHA:647 | Nijmegen breakage syndrome | | | | 706 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | | | | 706 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | | | | 1952 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | | | | 1952 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:626 | Large congenital melanocytic nevus | | | | 102 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:268220 | Rhabdomyosarcoma 2, alveolar | | | | 59 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | PAX7 CL E G H | 5081 | 8621 | OMIM:268220 | Rhabdomyosarcoma 2, alveolar | | | | | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:77301 | Monosomy 9q22.3 | | | | 665 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | SLC22A18 CL E G H | 5002 | 10964 | OMIM:268210 | Rhabdomyosarcoma 1 | | | | 3 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | SOX6 CL E G H | 55553 | 16421 | OMIM:618971 | TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS | | | | 1 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | | | | 911 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 2 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | | | | 1090 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | | | | 1090 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | | | | 2738 | | |
HP:0009728 | HP:0009728 | Neoplasm of striated muscle | 0 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | | | | 2738 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | . | | | 76 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 289 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 833 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | DICER1 CL E G H | 23405 | 17098 | ORPHA:276399 | Familial multinodular goiter | | | | 670 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | DICER1 CL E G H | 23405 | 17098 | OMIM:601200 | PLEUROPULMONARY BLASTOMA; PPB | | | | 670 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | DICER1 CL E G H | 23405 | 17098 | OMIM:180295 | RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2 | | | | 670 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | FOXO1 CL E G H | 2308 | 3819 | OMIM:268220 | Rhabdomyosarcoma 2, alveolar | | | | 1 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | HRAS CL E G H | 3265 | 5173 | ORPHA:2874 | Phakomatosis pigmentokeratotica | | | | 113 | | |
HP:0009728 | HP:0009730 | Rhabdomyoma | 1 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | | | | 23 | | |
HP:0009728 | HP:0009730 | Rhabdomyoma | 1 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | | | | 23 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | KEAP1 CL E G H | 9817 | 23177 | ORPHA:276399 | Familial multinodular goiter | | | | | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | MC1R CL E G H | 4157 | 6929 | ORPHA:626 | Large congenital melanocytic nevus | HP:0040283 - Occasional | | | 124 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | . | | | 1819 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | . | | | 706 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | NBN CL E G H | 4683 | 7652 | ORPHA:647 | Nijmegen breakage syndrome | HP:0040283 - Occasional | | | 706 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040284 - Very rare | | | 1952 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | . | | | 1952 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | NRAS CL E G H | 4893 | 7989 | ORPHA:626 | Large congenital melanocytic nevus | HP:0040283 - Occasional | | | 102 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | PAX3 CL E G H | 5077 | 8617 | OMIM:268220 | Rhabdomyosarcoma 2, alveolar | | | | 59 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | PAX7 CL E G H | 5081 | 8621 | OMIM:268220 | Rhabdomyosarcoma 2, alveolar | | | | | | |
HP:0009728 | HP:0009730 | Rhabdomyoma | 1 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:77301 | Monosomy 9q22.3 | HP:0040283 - Occasional | | | 665 | | |
HP:0009728 | HP:0009730 | Rhabdomyoma | 1 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | SLC22A18 CL E G H | 5002 | 10964 | OMIM:268210 | Rhabdomyosarcoma 1 | | | | 3 | | |
HP:0009728 | HP:0009730 | Rhabdomyoma | 1 | SOX6 CL E G H | 55553 | 16421 | OMIM:618971 | TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS | | | | 1 | | |
HP:0009728 | HP:0009730 | Rhabdomyoma | 1 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 911 | | |
HP:0009728 | HP:0002859 | Rhabdomyosarcoma | 1 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0009728 | HP:0009730 | Rhabdomyoma | 1 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | | | | 1090 | | |
HP:0009728 | HP:0009730 | Rhabdomyoma | 1 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | | | | 1090 | | |
HP:0009728 | HP:0009730 | Rhabdomyoma | 1 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | | | | 2738 | | |
HP:0009728 | HP:0009730 | Rhabdomyoma | 1 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | | | | 2738 | | |
HP:0009728 | HP:0500092 | Orbital rhabdomyosarcoma | 2 | CL E G H | | | | | | | | | | |
HP:0009728 | HP:0006743 | Embryonal rhabdomyosarcoma | 2 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | | | | 76 | | |
HP:0009728 | HP:0006779 | Alveolar rhabdomyosarcoma | 2 | DICER1 CL E G H | 23405 | 17098 | ORPHA:276399 | Familial multinodular goiter | HP:0040284 - Very rare | | | 670 | | |
HP:0009728 | HP:0006743 | Embryonal rhabdomyosarcoma | 2 | DICER1 CL E G H | 23405 | 17098 | OMIM:180295 | RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2 | | | | 670 | | |
HP:0009728 | HP:0006779 | Alveolar rhabdomyosarcoma | 2 | FOXO1 CL E G H | 2308 | 3819 | OMIM:268220 | Rhabdomyosarcoma 2, alveolar | . | | | 1 | | |
HP:0009728 | HP:0009729 | Cardiac rhabdomyoma | 2 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 23 | | |
HP:0009728 | HP:0009729 | Cardiac rhabdomyoma | 2 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | | | | 23 | | |
HP:0009728 | HP:0006779 | Alveolar rhabdomyosarcoma | 2 | KEAP1 CL E G H | 9817 | 23177 | ORPHA:276399 | Familial multinodular goiter | HP:0040284 - Very rare | | | | | |
HP:0009728 | HP:0006779 | Alveolar rhabdomyosarcoma | 2 | PAX3 CL E G H | 5077 | 8617 | OMIM:268220 | Rhabdomyosarcoma 2, alveolar | . | | | 59 | | |
HP:0009728 | HP:0006779 | Alveolar rhabdomyosarcoma | 2 | PAX7 CL E G H | 5081 | 8621 | OMIM:268220 | Rhabdomyosarcoma 2, alveolar | . | | | | | |
HP:0009728 | HP:0009729 | Cardiac rhabdomyoma | 2 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0009728 | HP:0009729 | Cardiac rhabdomyoma | 2 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0009728 | HP:0006743 | Embryonal rhabdomyosarcoma | 2 | SLC22A18 CL E G H | 5002 | 10964 | OMIM:268210 | Rhabdomyosarcoma 1 | . | | | 3 | | |
HP:0009728 | HP:0009729 | Cardiac rhabdomyoma | 2 | SOX6 CL E G H | 55553 | 16421 | OMIM:618971 | TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS | | | | 1 | | |
HP:0009728 | HP:0009729 | Cardiac rhabdomyoma | 2 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |
HP:0009728 | HP:0009729 | Cardiac rhabdomyoma | 2 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 1090 | | |
HP:0009728 | HP:0009729 | Cardiac rhabdomyoma | 2 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | . | | | 1090 | | |
HP:0009728 | HP:0009729 | Cardiac rhabdomyoma | 2 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 2738 | | |
HP:0009728 | HP:0009729 | Cardiac rhabdomyoma | 2 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | | | | 2738 | | |