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:0200073 | HP:0200073 | Respiratory insufficiency due to defective ciliary clearance | 0 | CCDC65 CL E G H | 85478 | 29937 | OMIM:615504 | Ciliary dyskinesia, primary, 27 | . | | | 23 | | |
HP:0200073 | HP:0200073 | Respiratory insufficiency due to defective ciliary clearance | 0 | CFAP298 CL E G H | 56683 | 1301 | OMIM:615500 | Ciliary dyskinesia, primary, 26 | . | | | | | |
HP:0200073 | HP:0200073 | Respiratory insufficiency due to defective ciliary clearance | 0 | DNAAF11 CL E G H | 23639 | 16725 | OMIM:614935 | Ciliary dyskinesia, primary, 19 | . | | | | | |
HP:0200073 | HP:0200073 | Respiratory insufficiency due to defective ciliary clearance | 0 | DNAAF5 CL E G H | 54919 | 26013 | OMIM:614874 | Ciliary dyskinesia, primary, 18 | . | | | 62 | | |
HP:0200073 | HP:0200073 | Respiratory insufficiency due to defective ciliary clearance | 0 | HYDIN CL E G H | 54768 | 19368 | OMIM:608647 | Ciliary dyskinesia, primary, 5 | . | | | 21 | | |
HP:0200073 | HP:0200073 | Respiratory insufficiency due to defective ciliary clearance | 0 | ODAD1 CL E G H | 93233 | 26560 | OMIM:615067 | Ciliary dyskinesia, primary, 20 | . | | | | | |
HP:0200073 | HP:0200073 | Respiratory insufficiency due to defective ciliary clearance | 0 | ODAD2 CL E G H | 55130 | 25583 | OMIM:615451 | CILIARY DYSKINESIA, PRIMARY, 23; CILD23 | | | | | | |
HP:0200073 | HP:0200073 | Respiratory insufficiency due to defective ciliary clearance | 0 | ODAD3 CL E G H | 115948 | 28303 | OMIM:616037 | Ciliary dyskinesia, primary, 30 | . | | | | | |
HP:0200073 | HP:0200073 | Respiratory insufficiency due to defective ciliary clearance | 0 | SPAG1 CL E G H | 6674 | 11212 | OMIM:615505 | Ciliary dyskinesia, primary, 28 | . | | | 45 | | |
HP:0200073 | HP:0200073 | Respiratory insufficiency due to defective ciliary clearance | 0 | ZMYND10 CL E G H | 51364 | 19412 | OMIM:615444 | Ciliary dyskinesia, primary, 22 | . | | | 20 | | |