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:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | AK9 CL E G H | 221264 | 33814 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 1 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | ANO5 CL E G H | 203859 | 27337 | OMIM:611307 | Muscular dystrophy, limb-girdle, type 2L | . | | | 304 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | CHRNA1 CL E G H | 1134 | 1955 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 74 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | CHRNB1 CL E G H | 1140 | 1961 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 53 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | CHRND CL E G H | 1144 | 1965 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 88 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | CHRNE CL E G H | 1145 | 1966 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 139 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | DGUOK CL E G H | 1716 | 2858 | ORPHA:329314 | Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | HP:0040283 - Occasional | | | 57 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | DNAJB6 CL E G H | 10049 | 14888 | OMIM:603511 | Muscular dystrophy, limb-girdle, type 1E | . | | | 103 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 91 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | DPM3 CL E G H | 54344 | 3007 | ORPHA:263494 | DPM3-CDG | HP:0040282 - Frequent | | | 9 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | HP:0040282 - Frequent | | | 600 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:34515 | FKRP-related limb-girdle muscular dystrophy R9 | HP:0040282 - Frequent | | | 157 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:607155 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | . | | | 157 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | FLNC CL E G H | 2318 | 3756 | ORPHA:63273 | Distal myopathy with posterior leg and anterior hand involvement | | | | 197 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:602 | GNE myopathy | | | | 173 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | GYG1 CL E G H | 2992 | 4699 | OMIM:616199 | Polyglucosan body myopathy 2 | | | | 18 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | HNRNPDL CL E G H | 9987 | 5037 | OMIM:609115 | Limb-girdle muscular dystrophy, type 1G | . | | | 5 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 127 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 124 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 72 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:608358 | Myopathy, myosin storage | | | | 1269 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 131 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | MYOT CL E G H | 9499 | 12399 | ORPHA:266 | Autosomal dominant limb-girdle muscular dystrophy type 1A | HP:0040281 - Very frequent | | | 75 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | PHKA1 CL E G H | 5255 | 8925 | OMIM:300559 | Muscle glycogenosis, X-linked | | | | 54 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | PHKB CL E G H | 5257 | 8927 | ORPHA:79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | | | | 101 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | HP:0040282 - Frequent | | | 759 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 73 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:597 | Central core disease | HP:0040282 - Frequent | | | 1200 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 263 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 144 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | SGCB CL E G H | 6443 | 10806 | ORPHA:119 | Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 | HP:0040282 - Frequent | | | 113 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:158901 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2 | | | | 174 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 22 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | SMN2 CL E G H | 6607 | 11118 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 1 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | TNPO3 CL E G H | 23534 | 17103 | OMIM:608423 | Muscular dystrophy, limb-girdle, autosomal dominant 2 | . | | | 71 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | . | | | 108 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:2596 | Myopathy and diabetes mellitus | HP:0040283 - Occasional | | | | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | TTN CL E G H | 7273 | 12403 | OMIM:603689 | Myopathy, myofibrillar, 9, with early respiratory failure | | | | 7128 | | |
HP:0003749 | HP:0003749 | Pelvic girdle muscle weakness | 0 | VCP CL E G H | 7415 | 12666 | OMIM:167320 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | . | | | 63 | | |
HP:0003749 | HP:0033416 | Hip adductor weakness | 1 | CL E G H | | | | | | | | | | |
HP:0003749 | HP:0012515 | Hip flexor weakness | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 127 | | |
HP:0003749 | HP:0012515 | Hip flexor weakness | 1 | AK9 CL E G H | 221264 | 33814 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 1 | | |
HP:0003749 | HP:0012515 | Hip flexor weakness | 1 | CHRNA1 CL E G H | 1134 | 1955 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 74 | | |
HP:0003749 | HP:0012515 | Hip flexor weakness | 1 | CHRNB1 CL E G H | 1140 | 1961 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 53 | | |
HP:0003749 | HP:0012515 | Hip flexor weakness | 1 | CHRND CL E G H | 1144 | 1965 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 88 | | |
HP:0003749 | HP:0012515 | Hip flexor weakness | 1 | CHRNE CL E G H | 1145 | 1966 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 139 | | |
HP:0003749 | HP:0012515 | Hip flexor weakness | 1 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 6 | | |
HP:0003749 | HP:0012515 | Hip flexor weakness | 1 | DOK7 CL E G H | 285489 | 26594 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 91 | | |
HP:0003749 | HP:0012515 | Hip flexor weakness | 1 | FLNC CL E G H | 2318 | 3756 | ORPHA:63273 | Distal myopathy with posterior leg and anterior hand involvement | HP:0040282 - Frequent | | | 197 | | |
HP:0003749 | HP:0012515 | Hip flexor weakness | 1 | GNE CL E G H | 10020 | 23657 | ORPHA:602 | GNE myopathy | HP:0040282 - Frequent | | | 173 | | |
HP:0003749 | HP:0012515 | Hip flexor weakness | 1 | LRP4 CL E G H | 4038 | 6696 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 124 | | |
HP:0003749 | HP:0012515 | Hip flexor weakness | 1 | MUSK CL E G H | 4593 | 7525 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 72 | | |
HP:0003749 | HP:0012515 | Hip flexor weakness | 1 | MYOT CL E G H | 9499 | 12399 | ORPHA:266 | Autosomal dominant limb-girdle muscular dystrophy type 1A | HP:0040282 - Frequent | | | 75 | | |
HP:0003749 | HP:0012515 | Hip flexor weakness | 1 | RAPSN CL E G H | 5913 | 9863 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 73 | | |
HP:0003749 | HP:0012515 | Hip flexor weakness | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 263 | | |