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:0002248 | HP:0002248 | Hematemesis | 0 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | . | | | 178 | | |
HP:0002248 | HP:0002248 | Hematemesis | 0 | ATRX CL E G H | 546 | 886 | ORPHA:100075 | Neuroendocrine tumor of stomach | HP:0040283 - Occasional | | | 169 | | |
HP:0002248 | HP:0002248 | Hematemesis | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0002248 | HP:0002248 | Hematemesis | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0002248 | HP:0002248 | Hematemesis | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0002248 | HP:0002248 | Hematemesis | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0002248 | HP:0002248 | Hematemesis | 0 | DAXX CL E G H | 1616 | 2681 | ORPHA:100075 | Neuroendocrine tumor of stomach | HP:0040283 - Occasional | | | | | |
HP:0002248 | HP:0002248 | Hematemesis | 0 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | . | | | 186 | | |
HP:0002248 | HP:0002248 | Hematemesis | 0 | FGA CL E G H | 2243 | 3661 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 47 | | |
HP:0002248 | HP:0002248 | Hematemesis | 0 | FGB CL E G H | 2244 | 3662 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 62 | | |
HP:0002248 | HP:0002248 | Hematemesis | 0 | FGG CL E G H | 2266 | 3694 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 34 | | |
HP:0002248 | HP:0002248 | Hematemesis | 0 | GP1BA CL E G H | 2811 | 4439 | ORPHA:274 | Bernard-Soulier syndrome | HP:0040283 - Occasional | | | 23 | | |
HP:0002248 | HP:0002248 | Hematemesis | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:274 | Bernard-Soulier syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0002248 | HP:0002248 | Hematemesis | 0 | GP9 CL E G H | 2815 | 4444 | ORPHA:274 | Bernard-Soulier syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0002248 | HP:0002248 | Hematemesis | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | | | | 28 | | |
HP:0002248 | HP:0002248 | Hematemesis | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0002248 | HP:0002248 | Hematemesis | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |
HP:0002248 | HP:0002248 | Hematemesis | 0 | PKHD1 CL E G H | 5314 | 9016 | OMIM:263200 | Polycystic kidney disease 4 with or without polycystic liver disease | | | | 563 | | |
HP:0002248 | HP:0002248 | Hematemesis | 0 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | . | | | 65 | | |
HP:0002248 | HP:0002248 | Hematemesis | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0002248 | HP:0002248 | Hematemesis | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040282 - Frequent | | | 6 | | |