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:0002047 | HP:0002047 | Malignant hyperthermia | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:457 | Harlequin ichthyosis | HP:0040283 - Occasional | | | 130 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | ATP2A1 CL E G H | 487 | 811 | OMIM:601003 | BRODY MYOPATHY | | | | 80 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040284 - Very rare | | | 99 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040282 - Frequent | | | 247 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 74 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 88 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 68 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | CLCF1 CL E G H | 23529 | 17412 | ORPHA:1545 | Crisponi syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | CRLF1 CL E G H | 9244 | 2364 | ORPHA:1545 | Crisponi syndrome | HP:0040281 - Very frequent | | | 24 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040284 - Very rare | | | 167 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | EDAR CL E G H | 10913 | 2895 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 86 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | EDARADD CL E G H | 128178 | 14341 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 56 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | ELP1 CL E G H | 8518 | 5959 | ORPHA:1764 | Familial dysautonomia | HP:0040281 - Very frequent | | | 133 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | . | | | 345 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | KDF1 CL E G H | 126695 | 26624 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 1 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040284 - Very rare | | | 7 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040284 - Very rare | | | 19 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | | | | 166 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040284 - Very rare | | | 1200 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:597 | Central core disease | HP:0040282 - Frequent | | | 1200 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:117000 | Central core disease | HP:0040283 - Occasional | | | 1200 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:424107 | Congenital myopathy with myasthenic-like onset | HP:0040282 - Frequent | | | 1200 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | HP:0040281 - Very frequent | | | 1200 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:619542 | KING-DENBOROUGH SYNDROME; KDS | | | | 1200 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040282 - Frequent | | | 1200 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:145600 | Malignant hyperthermia, susceptibility to, 1 | . | | | 1200 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | HP:0040283 - Occasional | | | 263 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:272120 | Sudden infant death syndrome | . | | | 1134 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | STAC3 CL E G H | 246329 | 28423 | OMIM:255995 | Myopathy, congenital, bailey-bloch | . | | | 14 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | STAC3 CL E G H | 246329 | 28423 | ORPHA:168572 | Native American myopathy | HP:0040282 - Frequent | | | 14 | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | TRAF6 CL E G H | 7189 | 12036 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | | | |
HP:0002047 | HP:0002047 | Malignant hyperthermia | 0 | TRAPPC9 CL E G H | 83696 | 30832 | ORPHA:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | HP:0040281 - Very frequent | | | 158 | | |