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:0000634 | HP:0000634 | Impaired ocular abduction | 0 | MAFB CL E G H | 9935 | 6408 | OMIM:617041 | Duane retraction syndrome 3 with or without deafness | . | | | 63 | | |
HP:0000634 | HP:0000634 | Impaired ocular abduction | 0 | MYMK CL E G H | 389827 | 33778 | ORPHA:1358 | Carey-Fineman-Ziter syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000634 | HP:0000634 | Impaired ocular abduction | 0 | MYMX CL E G H | 101929726 | 52391 | ORPHA:1358 | Carey-Fineman-Ziter syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000634 | HP:0000634 | Impaired ocular abduction | 0 | ROBO3 CL E G H | 64221 | 13433 | OMIM:607313 | Gaze palsy, familial horizontal, with progressive scoliosis, 1 | | | | 90 | | |
HP:0000634 | HP:0000634 | Impaired ocular abduction | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | . | | | 86 | | |