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:0009051 | HP:0009051 | Increased muscle glycogen content | 0 | ENO3 CL E G H | 2027 | 3354 | OMIM:612932 | Glycogen storage disease XIII | . | | | 34 | | |
HP:0009051 | HP:0009051 | Increased muscle glycogen content | 0 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | | | | 407 | | |
HP:0009051 | HP:0009051 | Increased muscle glycogen content | 0 | MSTO1 CL E G H | 55154 | 29678 | ORPHA:502423 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | HP:0040282 - Frequent | | | | | |
HP:0009051 | HP:0009051 | Increased muscle glycogen content | 0 | PFKM CL E G H | 5213 | 8877 | ORPHA:371 | Glycogen storage disease due to muscle phosphofructokinase deficiency | HP:0040281 - Very frequent | | | 64 | | |
HP:0009051 | HP:0009051 | Increased muscle glycogen content | 0 | PFKM CL E G H | 5213 | 8877 | OMIM:232800 | Glycogen storage disease VII | . | | | 64 | | |
HP:0009051 | HP:0009051 | Increased muscle glycogen content | 0 | PHKA1 CL E G H | 5255 | 8925 | OMIM:300559 | Muscle glycogenosis, X-linked | | | | 54 | | |
HP:0009051 | HP:0009051 | Increased muscle glycogen content | 0 | PHKA2 CL E G H | 5256 | 8926 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | | | | 54 | | |
HP:0009051 | HP:0009051 | Increased muscle glycogen content | 0 | PHKB CL E G H | 5257 | 8927 | OMIM:261750 | Glycogen storage disease ixb | . | | | 101 | | |
HP:0009051 | HP:0009051 | Increased muscle glycogen content | 0 | PHKG2 CL E G H | 5261 | 8931 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | | | | 48 | | |
HP:0009051 | HP:0009051 | Increased muscle glycogen content | 0 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | HP:0040281 - Very frequent | | | 166 | | |
HP:0009051 | HP:0009051 | Increased muscle glycogen content | 0 | TRMU CL E G H | 55687 | 25481 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | HP:0040281 - Very frequent | | | 101 | | |
HP:0009051 | HP:0009051 | Increased muscle glycogen content | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | HP:0040281 - Very frequent | | | | | |
HP:0009051 | HP:0030231 | Glycogen accumulation in muscle fiber lysosomes | 1 | PHKA1 CL E G H | 5255 | 8925 | OMIM:300559 | Muscle glycogenosis, X-linked | | | | 54 | | |
HP:0009051 | HP:0030232 | Increased sarcoplasmic glycogen | 1 | PHKA2 CL E G H | 5256 | 8926 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040283 - Occasional | | | 54 | | |
HP:0009051 | HP:0030232 | Increased sarcoplasmic glycogen | 1 | PHKG2 CL E G H | 5261 | 8931 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040283 - Occasional | | | 48 | | |
HP:0009051 | HP:0030231 | Glycogen accumulation in muscle fiber lysosomes | 1 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | HP:0040281 - Very frequent | | | 166 | | |