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:0012255 | HP:0012255 | Dynein arm defect of respiratory motile cilia | 0 | CCDC39 CL E G H | 339829 | 25244 | OMIM:613807 | Ciliary dyskinesia, primary, 14 | | | | 126 | | |
HP:0012255 | HP:0012255 | Dynein arm defect of respiratory motile cilia | 0 | CFAP298 CL E G H | 56683 | 1301 | OMIM:615500 | Ciliary dyskinesia, primary, 26 | | | | | | |
HP:0012255 | HP:0012255 | Dynein arm defect of respiratory motile cilia | 0 | CFAP300 CL E G H | 85016 | 28188 | OMIM:618063 | Ciliary dyskinesia, primary, 38 | | | | | | |
HP:0012255 | HP:0012255 | Dynein arm defect of respiratory motile cilia | 0 | DNAAF1 CL E G H | 123872 | 30539 | OMIM:613193 | Ciliary dyskinesia, primary, 13 | | | | 116 | | |
HP:0012255 | HP:0012255 | Dynein arm defect of respiratory motile cilia | 0 | DNAAF11 CL E G H | 23639 | 16725 | OMIM:614935 | Ciliary dyskinesia, primary, 19 | | | | | | |
HP:0012255 | HP:0012255 | Dynein arm defect of respiratory motile cilia | 0 | DNAAF3 CL E G H | 352909 | 30492 | OMIM:606763 | Ciliary dyskinesia, primary, 2 | | | | 63 | | |
HP:0012255 | HP:0012255 | Dynein arm defect of respiratory motile cilia | 0 | DNAAF5 CL E G H | 54919 | 26013 | OMIM:614874 | Ciliary dyskinesia, primary, 18 | | | | 62 | | |
HP:0012255 | HP:0012255 | Dynein arm defect of respiratory motile cilia | 0 | DNAH9 CL E G H | 1770 | 2953 | OMIM:618300 | Ciliary dyskinesia, primary, 40 | | | | 18 | | |
HP:0012255 | HP:0012255 | Dynein arm defect of respiratory motile cilia | 0 | DNAI1 CL E G H | 27019 | 2954 | OMIM:244400 | Ciliary dyskinesia, primary, 1 | | | | 73 | | |
HP:0012255 | HP:0012255 | Dynein arm defect of respiratory motile cilia | 0 | DNAI2 CL E G H | 64446 | 18744 | OMIM:612444 | CILIARY DYSKINESIA, PRIMARY, 9; CILD9 | | | | 104 | | |
HP:0012255 | HP:0012255 | Dynein arm defect of respiratory motile cilia | 0 | DNAL1 CL E G H | 83544 | 23247 | OMIM:614017 | CILIARY DYSKINESIA, PRIMARY, 16; CILD16 | | | | 167 | | |
HP:0012255 | HP:0012255 | Dynein arm defect of respiratory motile cilia | 0 | NME8 CL E G H | 51314 | 16473 | OMIM:610852 | Ciliary dyskinesia, primary, 6 | | | | 50 | | |
HP:0012255 | HP:0012255 | Dynein arm defect of respiratory motile cilia | 0 | ODAD1 CL E G H | 93233 | 26560 | OMIM:615067 | Ciliary dyskinesia, primary, 20 | | | | | | |
HP:0012255 | HP:0012255 | Dynein arm defect of respiratory motile cilia | 0 | ODAD3 CL E G H | 115948 | 28303 | OMIM:616037 | Ciliary dyskinesia, primary, 30 | | | | | | |
HP:0012255 | HP:0012255 | Dynein arm defect of respiratory motile cilia | 0 | SPAG1 CL E G H | 6674 | 11212 | OMIM:615505 | Ciliary dyskinesia, primary, 28 | | | | 45 | | |
HP:0012255 | HP:0012255 | Dynein arm defect of respiratory motile cilia | 0 | TTC12 CL E G H | 54970 | 23700 | OMIM:618801 | CILIARY DYSKINESIA, PRIMARY, 45; CILD45 | | | | | | |
HP:0012255 | HP:0012255 | Dynein arm defect of respiratory motile cilia | 0 | ZMYND10 CL E G H | 51364 | 19412 | OMIM:615444 | Ciliary dyskinesia, primary, 22 | | | | 20 | | |
HP:0012255 | HP:0200106 | Absent/shortened dynein arms | 1 | CCDC39 CL E G H | 339829 | 25244 | OMIM:613807 | Ciliary dyskinesia, primary, 14 | | | | 126 | | |
HP:0012255 | HP:0200106 | Absent/shortened dynein arms | 1 | CFAP298 CL E G H | 56683 | 1301 | OMIM:615500 | Ciliary dyskinesia, primary, 26 | | | | | | |
HP:0012255 | HP:0200106 | Absent/shortened dynein arms | 1 | CFAP300 CL E G H | 85016 | 28188 | OMIM:618063 | Ciliary dyskinesia, primary, 38 | | | | | | |
HP:0012255 | HP:0200106 | Absent/shortened dynein arms | 1 | DNAAF1 CL E G H | 123872 | 30539 | OMIM:613193 | Ciliary dyskinesia, primary, 13 | | | | 116 | | |
HP:0012255 | HP:0200106 | Absent/shortened dynein arms | 1 | DNAAF11 CL E G H | 23639 | 16725 | OMIM:614935 | Ciliary dyskinesia, primary, 19 | | | | | | |
HP:0012255 | HP:0200106 | Absent/shortened dynein arms | 1 | DNAAF3 CL E G H | 352909 | 30492 | OMIM:606763 | Ciliary dyskinesia, primary, 2 | | | | 63 | | |
HP:0012255 | HP:0200106 | Absent/shortened dynein arms | 1 | DNAAF5 CL E G H | 54919 | 26013 | OMIM:614874 | Ciliary dyskinesia, primary, 18 | | | | 62 | | |
HP:0012255 | HP:0200106 | Absent/shortened dynein arms | 1 | DNAH9 CL E G H | 1770 | 2953 | OMIM:618300 | Ciliary dyskinesia, primary, 40 | | | | 18 | | |
HP:0012255 | HP:0200106 | Absent/shortened dynein arms | 1 | DNAI1 CL E G H | 27019 | 2954 | OMIM:244400 | Ciliary dyskinesia, primary, 1 | | | | 73 | | |
HP:0012255 | HP:0200106 | Absent/shortened dynein arms | 1 | DNAI2 CL E G H | 64446 | 18744 | OMIM:612444 | CILIARY DYSKINESIA, PRIMARY, 9; CILD9 | | | | 104 | | |
HP:0012255 | HP:0200106 | Absent/shortened dynein arms | 1 | DNAL1 CL E G H | 83544 | 23247 | OMIM:614017 | CILIARY DYSKINESIA, PRIMARY, 16; CILD16 | | | | 167 | | |
HP:0012255 | HP:0200106 | Absent/shortened dynein arms | 1 | NME8 CL E G H | 51314 | 16473 | OMIM:610852 | Ciliary dyskinesia, primary, 6 | | | | 50 | | |
HP:0012255 | HP:0200106 | Absent/shortened dynein arms | 1 | ODAD1 CL E G H | 93233 | 26560 | OMIM:615067 | Ciliary dyskinesia, primary, 20 | | | | | | |
HP:0012255 | HP:0200106 | Absent/shortened dynein arms | 1 | ODAD3 CL E G H | 115948 | 28303 | OMIM:616037 | Ciliary dyskinesia, primary, 30 | | | | | | |
HP:0012255 | HP:0200106 | Absent/shortened dynein arms | 1 | TTC12 CL E G H | 54970 | 23700 | OMIM:618801 | CILIARY DYSKINESIA, PRIMARY, 45; CILD45 | | | | | | |
HP:0012255 | HP:0200106 | Absent/shortened dynein arms | 1 | ZMYND10 CL E G H | 51364 | 19412 | OMIM:615444 | Ciliary dyskinesia, primary, 22 | | | | 20 | | |
HP:0012255 | HP:0200108 | Shortened outer dynein arms | 2 | CL E G H | | | | | | | | | | |
HP:0012255 | HP:0200107 | Shortened inner dynein arms | 2 | CL E G H | | | | | | | | | | |
HP:0012255 | HP:0012257 | Absent inner dynein arms | 2 | CCDC39 CL E G H | 339829 | 25244 | OMIM:613807 | Ciliary dyskinesia, primary, 14 | | | | 126 | | |
HP:0012255 | HP:0012256 | Absent outer dynein arms | 2 | CFAP298 CL E G H | 56683 | 1301 | OMIM:615500 | Ciliary dyskinesia, primary, 26 | | | | | | |
HP:0012255 | HP:0012257 | Absent inner dynein arms | 2 | CFAP300 CL E G H | 85016 | 28188 | OMIM:618063 | Ciliary dyskinesia, primary, 38 | | | | | | |
HP:0012255 | HP:0012256 | Absent outer dynein arms | 2 | CFAP300 CL E G H | 85016 | 28188 | OMIM:618063 | Ciliary dyskinesia, primary, 38 | | | | | | |
HP:0012255 | HP:0012257 | Absent inner dynein arms | 2 | DNAAF1 CL E G H | 123872 | 30539 | OMIM:613193 | Ciliary dyskinesia, primary, 13 | . | | | 116 | | |
HP:0012255 | HP:0012256 | Absent outer dynein arms | 2 | DNAAF1 CL E G H | 123872 | 30539 | OMIM:613193 | Ciliary dyskinesia, primary, 13 | . | | | 116 | | |
HP:0012255 | HP:0012257 | Absent inner dynein arms | 2 | DNAAF11 CL E G H | 23639 | 16725 | OMIM:614935 | Ciliary dyskinesia, primary, 19 | | | | | | |
HP:0012255 | HP:0012256 | Absent outer dynein arms | 2 | DNAAF11 CL E G H | 23639 | 16725 | OMIM:614935 | Ciliary dyskinesia, primary, 19 | | | | | | |
HP:0012255 | HP:0012256 | Absent outer dynein arms | 2 | DNAAF3 CL E G H | 352909 | 30492 | OMIM:606763 | Ciliary dyskinesia, primary, 2 | | | | 63 | | |
HP:0012255 | HP:0012257 | Absent inner dynein arms | 2 | DNAAF3 CL E G H | 352909 | 30492 | OMIM:606763 | Ciliary dyskinesia, primary, 2 | | | | 63 | | |
HP:0012255 | HP:0012256 | Absent outer dynein arms | 2 | DNAAF5 CL E G H | 54919 | 26013 | OMIM:614874 | Ciliary dyskinesia, primary, 18 | . | | | 62 | | |
HP:0012255 | HP:0012256 | Absent outer dynein arms | 2 | DNAH9 CL E G H | 1770 | 2953 | OMIM:618300 | Ciliary dyskinesia, primary, 40 | | | | 18 | | |
HP:0012255 | HP:0012256 | Absent outer dynein arms | 2 | DNAI1 CL E G H | 27019 | 2954 | OMIM:244400 | Ciliary dyskinesia, primary, 1 | | | | 73 | | |
HP:0012255 | HP:0012256 | Absent outer dynein arms | 2 | DNAI2 CL E G H | 64446 | 18744 | OMIM:612444 | CILIARY DYSKINESIA, PRIMARY, 9; CILD9 | | | | 104 | | |
HP:0012255 | HP:0012256 | Absent outer dynein arms | 2 | DNAL1 CL E G H | 83544 | 23247 | OMIM:614017 | CILIARY DYSKINESIA, PRIMARY, 16; CILD16 | | | | 167 | | |
HP:0012255 | HP:0200109 | Absent/shortened outer dynein arms | 2 | NME8 CL E G H | 51314 | 16473 | OMIM:610852 | Ciliary dyskinesia, primary, 6 | . | | | 50 | | |
HP:0012255 | HP:0012256 | Absent outer dynein arms | 2 | ODAD1 CL E G H | 93233 | 26560 | OMIM:615067 | Ciliary dyskinesia, primary, 20 | . | | | | | |
HP:0012255 | HP:0012256 | Absent outer dynein arms | 2 | ODAD3 CL E G H | 115948 | 28303 | OMIM:616037 | Ciliary dyskinesia, primary, 30 | . | | | | | |
HP:0012255 | HP:0012256 | Absent outer dynein arms | 2 | TTC12 CL E G H | 54970 | 23700 | OMIM:618801 | CILIARY DYSKINESIA, PRIMARY, 45; CILD45 | | | | | | |
HP:0012255 | HP:0012257 | Absent inner dynein arms | 2 | TTC12 CL E G H | 54970 | 23700 | OMIM:618801 | CILIARY DYSKINESIA, PRIMARY, 45; CILD45 | | | | | | |
HP:0012255 | HP:0012257 | Absent inner dynein arms | 2 | ZMYND10 CL E G H | 51364 | 19412 | OMIM:615444 | Ciliary dyskinesia, primary, 22 | | | | 20 | | |
HP:0012255 | HP:0012256 | Absent outer dynein arms | 2 | ZMYND10 CL E G H | 51364 | 19412 | OMIM:615444 | Ciliary dyskinesia, primary, 22 | | | | 20 | | |
HP:0012255 | HP:0012259 | Absent inner and outer dynein arms | 3 | CFAP300 CL E G H | 85016 | 28188 | OMIM:618063 | Ciliary dyskinesia, primary, 38 | . | | | | | |
HP:0012255 | HP:0012259 | Absent inner and outer dynein arms | 3 | DNAAF11 CL E G H | 23639 | 16725 | OMIM:614935 | Ciliary dyskinesia, primary, 19 | . | | | | | |
HP:0012255 | HP:0012259 | Absent inner and outer dynein arms | 3 | DNAAF3 CL E G H | 352909 | 30492 | OMIM:606763 | Ciliary dyskinesia, primary, 2 | | | | 63 | | |
HP:0012255 | HP:0012259 | Absent inner and outer dynein arms | 3 | TTC12 CL E G H | 54970 | 23700 | OMIM:618801 | CILIARY DYSKINESIA, PRIMARY, 45; CILD45 | | | | | | |
HP:0012255 | HP:0012259 | Absent inner and outer dynein arms | 3 | ZMYND10 CL E G H | 51364 | 19412 | OMIM:615444 | Ciliary dyskinesia, primary, 22 | . | | | 20 | | |