Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0100771 | HP:0100771 | Hypoperistalsis | 0 | ACTG2 CL E G H | 72 | 2241 | Factor XI deficiency, congenital | | | ORPHA | 1 | | 88 | 145 | 102545 |
HP:0100771 | HP:0100771 | Hypoperistalsis | 0 | LMOD1 CL E G H | 25802 | 2241 | Factor XI deficiency, congenital | | | ORPHA | 1 | | 52 | 6647 | 602715 |
HP:0100771 | HP:0100771 | Hypoperistalsis | 0 | MYH11 CL E G H | 4629 | 2241 | Factor XI deficiency, congenital | | | ORPHA | 1 | | 2993 | 7569 | 160745 |
HP:0100771 | HP:0100771 | Hypoperistalsis | 0 | MYLK CL E G H | 4638 | 2241 | Factor XI deficiency, congenital | | | ORPHA | 1 | | 1756 | 7590 | 600922 |
HP:0100771 | HP:0100771 | Hypoperistalsis | 0 | RAD21 CL E G H | 5885 | 611376 | Mungan syndrome | 611376 | C1969653 | OMIM | 1 | | 352 | 9811 | 606462 |
HP:0100771 | HP:0031857 | Ineffective esophageal peristalsis | 1 | ACTG2 CL E G H | 72 | 2241 | Factor XI deficiency, congenital | | | ORPHA | 1 | | 88 | 145 | 102545 |
HP:0100771 | HP:0031857 | Ineffective esophageal peristalsis | 1 | LMOD1 CL E G H | 25802 | 2241 | Factor XI deficiency, congenital | | | ORPHA | 1 | | 52 | 6647 | 602715 |
HP:0100771 | HP:0031857 | Ineffective esophageal peristalsis | 1 | MYH11 CL E G H | 4629 | 2241 | Factor XI deficiency, congenital | | | ORPHA | 1 | | 2993 | 7569 | 160745 |
HP:0100771 | HP:0031857 | Ineffective esophageal peristalsis | 1 | MYLK CL E G H | 4638 | 2241 | Factor XI deficiency, congenital | | | ORPHA | 1 | | 1756 | 7590 | 600922 |
HP:0100771 | HP:0031857 | Ineffective esophageal peristalsis | 1 | RAD21 CL E G H | 5885 | 611376 | Mungan syndrome | 611376 | C1969653 | OMIM | 1 | | 352 | 9811 | 606462 |
HP:0100771 | HP:0002571 | Achalasia | 2 | ACTG2 CL E G H | 72 | 2241 | Factor XI deficiency, congenital | | | ORPHA | 1 | | 88 | 145 | 102545 |
HP:0100771 | HP:0002571 | Achalasia | 2 | LMOD1 CL E G H | 25802 | 2241 | Factor XI deficiency, congenital | | | ORPHA | 1 | | 52 | 6647 | 602715 |
HP:0100771 | HP:0002571 | Achalasia | 2 | MYH11 CL E G H | 4629 | 2241 | Factor XI deficiency, congenital | | | ORPHA | 1 | | 2993 | 7569 | 160745 |
HP:0100771 | HP:0002571 | Achalasia | 2 | MYLK CL E G H | 4638 | 2241 | Factor XI deficiency, congenital | | | ORPHA | 1 | | 1756 | 7590 | 600922 |
HP:0100771 | HP:0002571 | Achalasia | 2 | RAD21 CL E G H | 5885 | 611376 | Mungan syndrome | 611376 | C1969653 | OMIM | 1 | | 352 | 9811 | 606462 |
HPO disease - gene - phenotype less frequent non-typical associations: |