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:0030896 | HP:0030896 | Abnormal gastrointestinal transit time | 0 | ANO1 CL E G H | 55107 | 21625 | OMIM:620045 | | | | | | | |
HP:0030896 | HP:0030896 | Abnormal gastrointestinal transit time | 0 | CLMP CL E G H | 79827 | 24039 | OMIM:615237 | Congenital short bowel syndrome | | | | 7 | | |
HP:0030896 | HP:0030896 | Abnormal gastrointestinal transit time | 0 | UNC45A CL E G H | 55898 | 30594 | OMIM:619377 | OSTEOOTOHEPATOENTERIC SYNDROME; OOHE | | | | | | |
HP:0030896 | HP:0030897 | Decreased intestinal transit time | 1 | ANO1 CL E G H | 55107 | 21625 | OMIM:620045 | | | | | | | |
HP:0030896 | HP:0030897 | Decreased intestinal transit time | 1 | CLMP CL E G H | 79827 | 24039 | OMIM:615237 | Congenital short bowel syndrome | . | | | 7 | | |
HP:0030896 | HP:0410204 | Increased intestinal transit time | 1 | UNC45A CL E G H | 55898 | 30594 | OMIM:619377 | OSTEOOTOHEPATOENTERIC SYNDROME; OOHE | | | | | | |