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:0007461 | HP:0007461 | Hemangiomatosis | 0 | ACVRL1 CL E G H | 94 | 175 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 178 | | |
HP:0007461 | HP:0007461 | Hemangiomatosis | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | | | | 54 | | |
HP:0007461 | HP:0007461 | Hemangiomatosis | 0 | CCND1 CL E G H | 595 | 1582 | OMIM:193300 | Von hippel-lindau syndrome | | | | 1 | | |
HP:0007461 | HP:0007461 | Hemangiomatosis | 0 | EIF2AK4 CL E G H | 440275 | 19687 | ORPHA:199241 | Pulmonary capillary hemangiomatosis | | | | 40 | | |
HP:0007461 | HP:0007461 | Hemangiomatosis | 0 | EIF2AK4 CL E G H | 440275 | 19687 | OMIM:234810 | PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2 | | | | 40 | | |
HP:0007461 | HP:0007461 | Hemangiomatosis | 0 | ENG CL E G H | 2022 | 3349 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 186 | | |
HP:0007461 | HP:0007461 | Hemangiomatosis | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | | | | 172 | | |
HP:0007461 | HP:0007461 | Hemangiomatosis | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | | | | 175 | | |
HP:0007461 | HP:0007461 | Hemangiomatosis | 0 | GDF2 CL E G H | 2658 | 4217 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 8 | | |
HP:0007461 | HP:0007461 | Hemangiomatosis | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:3205 | Sturge-Weber syndrome | | | | 7 | | |
HP:0007461 | HP:0007461 | Hemangiomatosis | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:163634 | Maffucci syndrome | HP:0040281 - Very frequent | | | 15 | | |
HP:0007461 | HP:0007461 | Hemangiomatosis | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:296 | Ollier disease | | | | 15 | | |
HP:0007461 | HP:0007461 | Hemangiomatosis | 0 | IDH2 CL E G H | 3418 | 5383 | ORPHA:163634 | Maffucci syndrome | HP:0040281 - Very frequent | | | 29 | | |
HP:0007461 | HP:0007461 | Hemangiomatosis | 0 | IDH2 CL E G H | 3418 | 5383 | ORPHA:296 | Ollier disease | | | | 29 | | |
HP:0007461 | HP:0007461 | Hemangiomatosis | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | | | | 196 | | |
HP:0007461 | HP:0007461 | Hemangiomatosis | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:60040 | Megalencephaly-capillary malformation-polymicrogyria syndrome | | | | 162 | | |
HP:0007461 | HP:0007461 | Hemangiomatosis | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:109 | Bannayan-Riley-Ruvalcaba syndrome | | | | 948 | | |
HP:0007461 | HP:0007461 | Hemangiomatosis | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | | | | 948 | | |
HP:0007461 | HP:0007461 | Hemangiomatosis | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:137608 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | | | | 948 | | |
HP:0007461 | HP:0007461 | Hemangiomatosis | 0 | PTH1R CL E G H | 5745 | 9608 | ORPHA:296 | Ollier disease | | | | 58 | | |
HP:0007461 | HP:0007461 | Hemangiomatosis | 0 | RASA1 CL E G H | 5921 | 9871 | ORPHA:90307 | Parkes Weber syndrome | HP:0040284 - Very rare | | | 88 | | |
HP:0007461 | HP:0007461 | Hemangiomatosis | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:628 | Diastrophic dysplasia | | | | 166 | | |
HP:0007461 | HP:0007461 | Hemangiomatosis | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 504 | | |
HP:0007461 | HP:0007461 | Hemangiomatosis | 0 | TEK CL E G H | 7010 | 11724 | ORPHA:1059 | Blue rubber bleb nevus | | | | 78 | | |
HP:0007461 | HP:0007461 | Hemangiomatosis | 0 | VHL CL E G H | 7428 | 12687 | OMIM:193300 | Von hippel-lindau syndrome | | | | 490 | | |
HP:0007461 | HP:0100761 | Visceral angiomatosis | 1 | ACVRL1 CL E G H | 94 | 175 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040282 - Frequent | | | 178 | | |
HP:0007461 | HP:0100761 | Visceral angiomatosis | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040282 - Frequent | | | 54 | | |
HP:0007461 | HP:0005954 | Pulmonary capillary hemangiomatosis | 1 | CCND1 CL E G H | 595 | 1582 | OMIM:193300 | Von hippel-lindau syndrome | . | | | 1 | | |
HP:0007461 | HP:0005954 | Pulmonary capillary hemangiomatosis | 1 | EIF2AK4 CL E G H | 440275 | 19687 | ORPHA:199241 | Pulmonary capillary hemangiomatosis | HP:0040281 - Very frequent | | | 40 | | |
HP:0007461 | HP:0005954 | Pulmonary capillary hemangiomatosis | 1 | EIF2AK4 CL E G H | 440275 | 19687 | OMIM:234810 | PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2 | | | | 40 | | |
HP:0007461 | HP:0100761 | Visceral angiomatosis | 1 | ENG CL E G H | 2022 | 3349 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040282 - Frequent | | | 186 | | |
HP:0007461 | HP:0100761 | Visceral angiomatosis | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040282 - Frequent | | | 172 | | |
HP:0007461 | HP:0100761 | Visceral angiomatosis | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | HP:0040281 - Very frequent | | | 175 | | |
HP:0007461 | HP:0100761 | Visceral angiomatosis | 1 | GDF2 CL E G H | 2658 | 4217 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040282 - Frequent | | | 8 | | |
HP:0007461 | HP:0100761 | Visceral angiomatosis | 1 | GNAQ CL E G H | 2776 | 4390 | ORPHA:3205 | Sturge-Weber syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0007461 | HP:0100761 | Visceral angiomatosis | 1 | IDH1 CL E G H | 3417 | 5382 | ORPHA:296 | Ollier disease | HP:0040281 - Very frequent | | | 15 | | |
HP:0007461 | HP:0100761 | Visceral angiomatosis | 1 | IDH2 CL E G H | 3418 | 5383 | ORPHA:296 | Ollier disease | HP:0040281 - Very frequent | | | 29 | | |
HP:0007461 | HP:0100761 | Visceral angiomatosis | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040282 - Frequent | | | 196 | | |
HP:0007461 | HP:0100761 | Visceral angiomatosis | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:60040 | Megalencephaly-capillary malformation-polymicrogyria syndrome | HP:0040281 - Very frequent | | | 162 | | |
HP:0007461 | HP:0100761 | Visceral angiomatosis | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:109 | Bannayan-Riley-Ruvalcaba syndrome | HP:0040281 - Very frequent | | | 948 | | |
HP:0007461 | HP:0100761 | Visceral angiomatosis | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040282 - Frequent | | | 948 | | |
HP:0007461 | HP:0100761 | Visceral angiomatosis | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:137608 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | HP:0040281 - Very frequent | | | 948 | | |
HP:0007461 | HP:0100761 | Visceral angiomatosis | 1 | PTH1R CL E G H | 5745 | 9608 | ORPHA:296 | Ollier disease | HP:0040281 - Very frequent | | | 58 | | |
HP:0007461 | HP:0100761 | Visceral angiomatosis | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:628 | Diastrophic dysplasia | HP:0040283 - Occasional | | | 166 | | |
HP:0007461 | HP:0100761 | Visceral angiomatosis | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040282 - Frequent | | | 504 | | |
HP:0007461 | HP:0100761 | Visceral angiomatosis | 1 | TEK CL E G H | 7010 | 11724 | ORPHA:1059 | Blue rubber bleb nevus | HP:0040281 - Very frequent | | | 78 | | |
HP:0007461 | HP:0005954 | Pulmonary capillary hemangiomatosis | 1 | VHL CL E G H | 7428 | 12687 | OMIM:193300 | Von hippel-lindau syndrome | . | | | 490 | | |