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:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | | | | 197 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | | | | 96 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | AK9 CL E G H | 221264 | 33814 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 1 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | CASQ1 CL E G H | 844 | 1512 | ORPHA:2593 | Tubular aggregate myopathy | | | | 5 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | | | | 35 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | CHRNA1 CL E G H | 1134 | 1955 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 74 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | CHRNB1 CL E G H | 1140 | 1961 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 53 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | CHRND CL E G H | 1144 | 1965 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 88 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | CHRNE CL E G H | 1145 | 1966 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 139 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 91 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 157 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | FLNC CL E G H | 2318 | 3756 | ORPHA:63273 | Distal myopathy with posterior leg and anterior hand involvement | | | | 197 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 34 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | | | | 12 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | HP:0040282 - Frequent | | | 4 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | | | | 13 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 136 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | LDB3 CL E G H | 11155 | 15710 | ORPHA:98912 | Late-onset distal myopathy, Markesbery-Griggs type | | | | 286 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | | | | 11 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 124 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040282 - Frequent | | | 3 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 72 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171881 | Cap myopathy | | | | 217 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | | | | 745 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | ORAI1 CL E G H | 84876 | 25896 | ORPHA:2593 | Tubular aggregate myopathy | | | | 19 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 213 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 221 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:206559 | POMT2-related limb-girdle muscular dystrophy R14 | HP:0040282 - Frequent | | | 221 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 73 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 263 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | STIM1 CL E G H | 6786 | 11386 | ORPHA:2593 | Tubular aggregate myopathy | | | | 31 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | TFG CL E G H | 10342 | 11758 | ORPHA:90117 | Hereditary motor and sensory neuropathy, Okinawa type | | | | 18 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | TOE1 CL E G H | 114034 | 15954 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040282 - Frequent | | | 6 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171881 | Cap myopathy | | | | 54 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | | | | 54 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171881 | Cap myopathy | | | | 108 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0030197 | HP:0030197 | Fatigable weakness of skeletal muscles | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0030197 | HP:0030199 | Fatigable weakness of neck muscles | 1 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 197 | | |
HP:0030197 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0030197 | HP:0030198 | Fatigable weakness of distal limb muscles | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0030197 | HP:0030199 | Fatigable weakness of neck muscles | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 127 | | |
HP:0030197 | HP:0030199 | Fatigable weakness of neck muscles | 1 | AK9 CL E G H | 221264 | 33814 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 1 | | |
HP:0030197 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 1 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0030197 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0030197 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 1 | CASQ1 CL E G H | 844 | 1512 | ORPHA:2593 | Tubular aggregate myopathy | HP:0040281 - Very frequent | | | 5 | | |
HP:0030197 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0030197 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 1 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 35 | | |
HP:0030197 | HP:0030198 | Fatigable weakness of distal limb muscles | 1 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 35 | | |
HP:0030197 | HP:0030199 | Fatigable weakness of neck muscles | 1 | CHRNA1 CL E G H | 1134 | 1955 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 74 | | |
HP:0030197 | HP:0030199 | Fatigable weakness of neck muscles | 1 | CHRNB1 CL E G H | 1140 | 1961 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 53 | | |
HP:0030197 | HP:0030199 | Fatigable weakness of neck muscles | 1 | CHRND CL E G H | 1144 | 1965 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 88 | | |
HP:0030197 | HP:0030199 | Fatigable weakness of neck muscles | 1 | CHRNE CL E G H | 1145 | 1966 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 139 | | |
HP:0030197 | HP:0030199 | Fatigable weakness of neck muscles | 1 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 6 | | |
HP:0030197 | HP:0030199 | Fatigable weakness of neck muscles | 1 | DOK7 CL E G H | 285489 | 26594 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 91 | | |
HP:0030197 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 1 | FLNC CL E G H | 2318 | 3756 | ORPHA:63273 | Distal myopathy with posterior leg and anterior hand involvement | HP:0040283 - Occasional | | | 197 | | |
HP:0030197 | HP:0030198 | Fatigable weakness of distal limb muscles | 1 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | HP:0040282 - Frequent | | | 12 | | |
HP:0030197 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 1 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | HP:0040282 - Frequent | | | 4 | | |
HP:0030197 | HP:0030198 | Fatigable weakness of distal limb muscles | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0030197 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0030197 | HP:0030198 | Fatigable weakness of distal limb muscles | 1 | LDB3 CL E G H | 11155 | 15710 | ORPHA:98912 | Late-onset distal myopathy, Markesbery-Griggs type | HP:0040282 - Frequent | | | 286 | | |
HP:0030197 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 1 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0030197 | HP:0030198 | Fatigable weakness of distal limb muscles | 1 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 11 | | |
HP:0030197 | HP:0030199 | Fatigable weakness of neck muscles | 1 | LRP4 CL E G H | 4038 | 6696 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 124 | | |
HP:0030197 | HP:0030199 | Fatigable weakness of neck muscles | 1 | MUSK CL E G H | 4593 | 7525 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 72 | | |
HP:0030197 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 1 | MYPN CL E G H | 84665 | 23246 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0030197 | HP:0030198 | Fatigable weakness of distal limb muscles | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 745 | | |
HP:0030197 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0030197 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 1 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0030197 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 1 | ORAI1 CL E G H | 84876 | 25896 | ORPHA:2593 | Tubular aggregate myopathy | HP:0040281 - Very frequent | | | 19 | | |
HP:0030197 | HP:0030199 | Fatigable weakness of neck muscles | 1 | RAPSN CL E G H | 5913 | 9863 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 73 | | |
HP:0030197 | HP:0030199 | Fatigable weakness of neck muscles | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 263 | | |
HP:0030197 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 1 | STIM1 CL E G H | 6786 | 11386 | ORPHA:2593 | Tubular aggregate myopathy | HP:0040281 - Very frequent | | | 31 | | |
HP:0030197 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0030197 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 1 | TFG CL E G H | 10342 | 11758 | ORPHA:90117 | Hereditary motor and sensory neuropathy, Okinawa type | HP:0040281 - Very frequent | | | 18 | | |
HP:0030197 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0030197 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0030197 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0030197 | HP:0030198 | Fatigable weakness of distal limb muscles | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 54 | | |
HP:0030197 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0030197 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 1 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0030197 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 1 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |