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:0002573 | HP:0002573 | Hematochezia | 0 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | . | | | 178 | | |
HP:0002573 | HP:0002573 | Hematochezia | 0 | AMACR CL E G H | 23600 | 451 | ORPHA:79095 | Congenital bile acid synthesis defect type 4 | | | | 44 | | |
HP:0002573 | HP:0002573 | Hematochezia | 0 | APC CL E G H | 324 | 583 | ORPHA:99818 | Turcot syndrome with polyposis | HP:0040283 - Occasional | | | 3179 | | |
HP:0002573 | HP:0002573 | Hematochezia | 0 | ARPC1B CL E G H | 10095 | 704 | OMIM:617718 | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | | | | | | |
HP:0002573 | HP:0002573 | Hematochezia | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040282 - Frequent | | | 385 | | |
HP:0002573 | HP:0002573 | Hematochezia | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040281 - Very frequent | | | 385 | | |
HP:0002573 | HP:0002573 | Hematochezia | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040282 - Frequent | | | 385 | | |
HP:0002573 | HP:0002573 | Hematochezia | 0 | BMPR1A CL E G H | 657 | 1076 | OMIM:174900 | Juvenile polyposis syndrome | | | | 385 | | |
HP:0002573 | HP:0002573 | Hematochezia | 0 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:613812 | Bile acid synthesis defect, congenital, 3 | | | | 57 | | |
HP:0002573 | HP:0002573 | Hematochezia | 0 | ENG CL E G H | 2022 | 3349 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040282 - Frequent | | | 186 | | |
HP:0002573 | HP:0002573 | Hematochezia | 0 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | . | | | 186 | | |
HP:0002573 | HP:0002573 | Hematochezia | 0 | F5 CL E G H | 2153 | 3542 | ORPHA:326 | Congenital factor V deficiency | HP:0040284 - Very rare | | | 159 | | |
HP:0002573 | HP:0002573 | Hematochezia | 0 | GREM1 CL E G H | 26585 | 2001 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0002573 | HP:0002573 | Hematochezia | 0 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | . | | | 121 | | |
HP:0002573 | HP:0002573 | Hematochezia | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | | | | 28 | | |
HP:0002573 | HP:0002573 | Hematochezia | 0 | IL10RA CL E G H | 3587 | 5964 | OMIM:613148 | INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28 | | | | 64 | | |
HP:0002573 | HP:0002573 | Hematochezia | 0 | PLVAP CL E G H | 83483 | 13635 | OMIM:618183 | Diarrhea 10, protein-losing Enteropathy type | . | | | | | |
HP:0002573 | HP:0002573 | Hematochezia | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040282 - Frequent | | | 948 | | |
HP:0002573 | HP:0002573 | Hematochezia | 0 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | | | | 10 | | |
HP:0002573 | HP:0002573 | Hematochezia | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:329971 | Generalized juvenile polyposis/juvenile polyposis coli | HP:0040282 - Frequent | | | 504 | | |
HP:0002573 | HP:0002573 | Hematochezia | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:174900 | Juvenile polyposis syndrome | | | | 504 | | |
HP:0002573 | HP:0002573 | Hematochezia | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:175050 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | . | | | 504 | | |
HP:0002573 | HP:0002573 | Hematochezia | 0 | TAOK1 CL E G H | 57551 | 29259 | OMIM:619575 | DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB | | | | | | |
HP:0002573 | HP:0002573 | Hematochezia | 0 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | . | | | 26 | | |
HP:0002573 | HP:0002573 | Hematochezia | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0002573 | HP:0002573 | Hematochezia | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040282 - Frequent | | | 6 | | |