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:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040283 - Occasional | | | 95 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 54 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | AKT3 CL E G H | 10000 | 393 | ORPHA:99802 | Hemimegalencephaly | HP:0040283 - Occasional | | | 19 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | ANGPTL6 CL E G H | 83854 | 23140 | ORPHA:231160 | Familial cerebral saccular aneurysm | HP:0040283 - Occasional | | | | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 184 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040283 - Occasional | | | 636 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040283 - Occasional | | | 636 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040281 - Very frequent | | | 35 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:231160 | Familial cerebral saccular aneurysm | HP:0040283 - Occasional | | | 749 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | ENG CL E G H | 2022 | 3349 | ORPHA:231160 | Familial cerebral saccular aneurysm | HP:0040283 - Occasional | | | 186 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040281 - Very frequent | | | 63 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040283 - Occasional | | | 462 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | MTOR CL E G H | 2475 | 3942 | ORPHA:99802 | Hemimegalencephaly | HP:0040283 - Occasional | | | 68 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | MYMK CL E G H | 389827 | 33778 | OMIM:254940 | Carey-Fineman-Ziter syndrome | . | | | 5 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 220 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 9 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:99802 | Hemimegalencephaly | HP:0040283 - Occasional | | | 162 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 162 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:257 | Epidermolysis bullosa simplex with muscular dystrophy | HP:0040281 - Very frequent | | | 759 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040281 - Very frequent | | | 86 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 87 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 47 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 22 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 124 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 238 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | TGFBR3 CL E G H | 7049 | 11774 | ORPHA:231160 | Familial cerebral saccular aneurysm | HP:0040283 - Occasional | | | 1 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | THSD1 CL E G H | 55901 | 17754 | ORPHA:231160 | Familial cerebral saccular aneurysm | HP:0040283 - Occasional | | | 2 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | . | | | 214 | | |
HP:0012246 | HP:0012246 | Oculomotor nerve palsy | 0 | UGT1A1 CL E G H | 54658 | 12530 | ORPHA:79234 | Crigler-Najjar syndrome type 1 | HP:0040283 - Occasional | | | 73 | | |