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:0030200 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0030200 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0030200 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0030200 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 0 | CASQ1 CL E G H | 844 | 1512 | ORPHA:2593 | Tubular aggregate myopathy | HP:0040281 - Very frequent | | | 5 | | |
HP:0030200 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0030200 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 0 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 35 | | |
HP:0030200 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 0 | FLNC CL E G H | 2318 | 3756 | ORPHA:63273 | Distal myopathy with posterior leg and anterior hand involvement | HP:0040283 - Occasional | | | 197 | | |
HP:0030200 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 0 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | HP:0040282 - Frequent | | | 4 | | |
HP:0030200 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0030200 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 0 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0030200 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0030200 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0030200 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0030200 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 0 | ORAI1 CL E G H | 84876 | 25896 | ORPHA:2593 | Tubular aggregate myopathy | HP:0040281 - Very frequent | | | 19 | | |
HP:0030200 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 0 | STIM1 CL E G H | 6786 | 11386 | ORPHA:2593 | Tubular aggregate myopathy | HP:0040281 - Very frequent | | | 31 | | |
HP:0030200 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0030200 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 0 | TFG CL E G H | 10342 | 11758 | ORPHA:90117 | Hereditary motor and sensory neuropathy, Okinawa type | HP:0040281 - Very frequent | | | 18 | | |
HP:0030200 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0030200 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0030200 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0030200 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0030200 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0030200 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |