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:0003554 | HP:0003554 | Type 2 muscle fiber atrophy | 0 | ALG14 CL E G H | 199857 | 28287 | OMIM:619036 | MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA | | | | 12 | | |
HP:0003554 | HP:0003554 | Type 2 muscle fiber atrophy | 0 | CASQ1 CL E G H | 844 | 1512 | ORPHA:2593 | Tubular aggregate myopathy | HP:0040283 - Occasional | | | 5 | | |
HP:0003554 | HP:0003554 | Type 2 muscle fiber atrophy | 0 | CHAT CL E G H | 1103 | 1912 | OMIM:254210 | Myasthenic syndrome, congenital, 6, presynaptic | . | | | 65 | | |
HP:0003554 | HP:0003554 | Type 2 muscle fiber atrophy | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:601462 | Myasthenic syndrome, congenital, 1A, slow-channel | . | | | 74 | | |
HP:0003554 | HP:0003554 | Type 2 muscle fiber atrophy | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:608930 | Myasthenic syndrome, congenital, 1B, fast-channel | . | | | 74 | | |
HP:0003554 | HP:0003554 | Type 2 muscle fiber atrophy | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:605809 | Myasthenic syndrome, congenital, 4A, slow-channel | . | | | 139 | | |
HP:0003554 | HP:0003554 | Type 2 muscle fiber atrophy | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 139 | | |
HP:0003554 | HP:0003554 | Type 2 muscle fiber atrophy | 0 | CNBP CL E G H | 7555 | 13164 | OMIM:602668 | Dystrophia myotonica 2 | . | | | 1 | | |
HP:0003554 | HP:0003554 | Type 2 muscle fiber atrophy | 0 | COLQ CL E G H | 8292 | 2226 | OMIM:603034 | Myasthenic syndrome, congenital, 5 | . | | | 90 | | |
HP:0003554 | HP:0003554 | Type 2 muscle fiber atrophy | 0 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 90 | | |
HP:0003554 | HP:0003554 | Type 2 muscle fiber atrophy | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003554 | HP:0003554 | Type 2 muscle fiber atrophy | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003554 | HP:0003554 | Type 2 muscle fiber atrophy | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 128 | | |
HP:0003554 | HP:0003554 | Type 2 muscle fiber atrophy | 0 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 92 | | |
HP:0003554 | HP:0003554 | Type 2 muscle fiber atrophy | 0 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0003554 | HP:0003554 | Type 2 muscle fiber atrophy | 0 | ORAI1 CL E G H | 84876 | 25896 | ORPHA:2593 | Tubular aggregate myopathy | HP:0040283 - Occasional | | | 19 | | |
HP:0003554 | HP:0003554 | Type 2 muscle fiber atrophy | 0 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:319514 | Combined oxidative phosphorylation defect type 13 | HP:0040283 - Occasional | | | 60 | | |
HP:0003554 | HP:0003554 | Type 2 muscle fiber atrophy | 0 | SARS2 CL E G H | 54938 | 17697 | OMIM:613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome | . | | | 60 | | |
HP:0003554 | HP:0003554 | Type 2 muscle fiber atrophy | 0 | SPTBN4 CL E G H | 57731 | 14896 | OMIM:617519 | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | | | | 3 | | |
HP:0003554 | HP:0003554 | Type 2 muscle fiber atrophy | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:160565 | Myopathy, tubular aggregate, 1 | . | | | 31 | | |
HP:0003554 | HP:0003554 | Type 2 muscle fiber atrophy | 0 | STIM1 CL E G H | 6786 | 11386 | ORPHA:2593 | Tubular aggregate myopathy | HP:0040283 - Occasional | | | 31 | | |