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:0001048 | HP:0001048 | Cavernous hemangioma | 0 | ACVRL1 CL E G H | 94 | 175 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040282 - Frequent | | | 178 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 54 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | ATP2B1 CL E G H | 490 | 814 | OMIM:619910 | | | | | | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 99 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 276 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | . | | | 276 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | CCM2 CL E G H | 83605 | 21708 | OMIM:603284 | Cerebral cavernous malformations-2 | | | | 37 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 167 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | ENG CL E G H | 2022 | 3349 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040282 - Frequent | | | 186 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | GDF2 CL E G H | 2658 | 4217 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040282 - Frequent | | | 8 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:887 | VACTERL/VATER association | HP:0040283 - Occasional | | | 25 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:2612 | Linear nevus sebaceus syndrome | HP:0040281 - Very frequent | | | 113 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2612 | Linear nevus sebaceus syndrome | HP:0040281 - Very frequent | | | 196 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | KRIT1 CL E G H | 889 | 1573 | OMIM:116860 | Cerebral cavernous malformations 1 | | | | 92 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 7 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 19 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:616028 | Adams-Oliver syndrome 5 | . | | | 452 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:2612 | Linear nevus sebaceus syndrome | HP:0040281 - Very frequent | | | 102 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | PDCD10 CL E G H | 11235 | 8761 | OMIM:603285 | Cerebral cavernous malformations 3 | | | | 21 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:619538 | CEREBRAL CAVERNOUS MALFORMATIONS 4; CCM4 | | | | 162 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 162 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 948 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 1200 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 237 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 147 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 129 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040282 - Frequent | | | 504 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | TEK CL E G H | 7010 | 11724 | ORPHA:1059 | Blue rubber bleb nevus | HP:0040281 - Very frequent | | | 78 | | |
HP:0001048 | HP:0001048 | Cavernous hemangioma | 0 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001048 | HP:0033522 | Cerebral cavernous malformation | 1 | ATP2B1 CL E G H | 490 | 814 | OMIM:619910 | | | | | | | |
HP:0001048 | HP:0033522 | Cerebral cavernous malformation | 1 | CCM2 CL E G H | 83605 | 21708 | OMIM:603284 | Cerebral cavernous malformations-2 | | | | 37 | | |
HP:0001048 | HP:0007486 | Cavernous hemangioma of the face | 1 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0001048 | HP:0033522 | Cerebral cavernous malformation | 1 | KRIT1 CL E G H | 889 | 1573 | OMIM:116860 | Cerebral cavernous malformations 1 | | | | 92 | | |
HP:0001048 | HP:0033522 | Cerebral cavernous malformation | 1 | PDCD10 CL E G H | 11235 | 8761 | OMIM:603285 | Cerebral cavernous malformations 3 | | | | 21 | | |
HP:0001048 | HP:0033522 | Cerebral cavernous malformation | 1 | PIK3CA CL E G H | 5290 | 8975 | OMIM:619538 | CEREBRAL CAVERNOUS MALFORMATIONS 4; CCM4 | | | | 162 | | |