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:0005625 | HP:0005625 | Osteoporosis of vertebrae | 0 | BMP15 CL E G H | 9210 | 1068 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 16 | | |
HP:0005625 | HP:0005625 | Osteoporosis of vertebrae | 0 | BNC1 CL E G H | 646 | 1081 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | | | |
HP:0005625 | HP:0005625 | Osteoporosis of vertebrae | 0 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040283 - Occasional | | | | | |
HP:0005625 | HP:0005625 | Osteoporosis of vertebrae | 0 | FSHR CL E G H | 2492 | 3969 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 50 | | |
HP:0005625 | HP:0005625 | Osteoporosis of vertebrae | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040283 - Occasional | | | 173 | | |
HP:0005625 | HP:0005625 | Osteoporosis of vertebrae | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040283 - Occasional | | | 21 | | |
HP:0005625 | HP:0005625 | Osteoporosis of vertebrae | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040283 - Occasional | | | 43 | | |
HP:0005625 | HP:0005625 | Osteoporosis of vertebrae | 0 | MRPS22 CL E G H | 56945 | 14508 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 25 | | |
HP:0005625 | HP:0005625 | Osteoporosis of vertebrae | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 38 | | |
HP:0005625 | HP:0005625 | Osteoporosis of vertebrae | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 5 | | |
HP:0005625 | HP:0005625 | Osteoporosis of vertebrae | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040283 - Occasional | | | 41 | | |
HP:0005625 | HP:0005625 | Osteoporosis of vertebrae | 0 | POLR3H CL E G H | 171568 | 30349 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | | | |
HP:0005625 | HP:0005625 | Osteoporosis of vertebrae | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040283 - Occasional | | | 36 | | |
HP:0005625 | HP:0005625 | Osteoporosis of vertebrae | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040283 - Occasional | | | 54 | | |
HP:0005625 | HP:0005625 | Osteoporosis of vertebrae | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040283 - Occasional | | | 54 | | |
HP:0005625 | HP:0005625 | Osteoporosis of vertebrae | 0 | PSMC3IP CL E G H | 29893 | 17928 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 2 | | |
HP:0005625 | HP:0005625 | Osteoporosis of vertebrae | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:156510 | Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly | . | | | 90 | | |
HP:0005625 | HP:0005625 | Osteoporosis of vertebrae | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040283 - Occasional | | | 24 | | |
HP:0005625 | HP:0005625 | Osteoporosis of vertebrae | 0 | SPIDR CL E G H | 23514 | 28971 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 2 | | |
HP:0005625 | HP:0005625 | Osteoporosis of vertebrae | 0 | ZSWIM7 CL E G H | 125150 | 26993 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | | | |