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:0002905 | HP:0002905 | Hyperphosphatemia | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040282 - Frequent | | | 247 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | CASR CL E G H | 846 | 1514 | ORPHA:428 | Autosomal dominant hypocalcemia | HP:0040282 - Frequent | | | 272 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | CASR CL E G H | 846 | 1514 | OMIM:601198 | Hypocalcemia, autosomal dominant 1 | | | | 272 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | FAM111A CL E G H | 63901 | 24725 | ORPHA:93325 | Autosomal dominant Kenny-Caffey syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | FAM111A CL E G H | 63901 | 24725 | OMIM:127000 | Kenny-caffey syndrome, type 2 | . | | | 8 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | GALNT3 CL E G H | 2591 | 4125 | OMIM:211900 | Tumoral calcinosis, hyperphosphatemic, familial, 1 | . | | | 46 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | GCM2 CL E G H | 9247 | 4198 | ORPHA:2239 | Familial isolated hypoparathyroidism due to agenesis of parathyroid gland | HP:0040281 - Very frequent | | | 51 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | GCM2 CL E G H | 9247 | 4198 | OMIM:618883 | HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2; FIH2 | | | | 51 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:428 | Autosomal dominant hypocalcemia | HP:0040282 - Frequent | | | 16 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040281 - Very frequent | | | 101 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040281 - Very frequent | | | 101 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040281 - Very frequent | | | 101 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:103580 | Pseudohypoparathyroidism, type IA | . | | | 101 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:603233 | Pseudohypoparathyroidism, type IB | . | | | 101 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:612462 | Pseudohypoparathyroidism, type IC | . | | | 101 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | GNAS-AS1 CL E G H | 149775 | 24872 | OMIM:603233 | Pseudohypoparathyroidism, type IB | . | | | 1 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | KL CL E G H | 9365 | 6344 | OMIM:617994 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3 | | | | 68 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 113 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | PGAP2 CL E G H | 27315 | 17893 | OMIM:614207 | Hyperphosphatasia with mental retardation syndrome 3 | . | | | 8 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 134 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | PTH CL E G H | 5741 | 9606 | OMIM:146200 | Hypoparathyroidism, familial isolated | . | | | 16 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | HP:0040283 - Occasional | | | 1200 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040282 - Frequent | | | 1200 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:145600 | Malignant hyperthermia, susceptibility to, 1 | . | | | 1200 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | STX16 CL E G H | 8675 | 11431 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040281 - Very frequent | | | 86 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | STX16 CL E G H | 8675 | 11431 | OMIM:603233 | Pseudohypoparathyroidism, type IB | . | | | 86 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:241410 | Hypoparathyroidism-Retardation-Dysmorphism syndrome | . | | | 52 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:2323 | Sanjad-Sakati syndrome | HP:0040281 - Very frequent | | | 52 | | |
HP:0002905 | HP:0002905 | Hyperphosphatemia | 0 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | . | | | 44 | | |