Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | ADSS1 CL E G H | 122622 | 20093 | ORPHA:482601 | Adenylosuccinate synthetase-like 1-related distal myopathy | HP:0040282 - Frequent | | | | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | HP:0040281 - Very frequent | | | 304 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | ANXA11 CL E G H | 311 | 535 | OMIM:619733 | INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA | | | | | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | HP:0040281 - Very frequent | | | 315 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | | | | 46 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 99 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:457050 | Autosomal dominant mitochondrial myopathy with exercise intolerance | HP:0040282 - Frequent | | | 11 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | HP:0040282 - Frequent | | | 11 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:616209 | Myopathy, isolated mitochondrial, autosomal dominant | . | | | 11 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:610 | Bethlem myopathy | | | | 65 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:610 | Bethlem myopathy | | | | 442 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:610 | Bethlem myopathy | | | | 478 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:610 | Bethlem myopathy | | | | 702 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | CPOX CL E G H | 1371 | 2321 | ORPHA:79273 | Hereditary coproporphyria | HP:0040282 - Frequent | | | 72 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:352479 | ISPD-related limb-girdle muscular dystrophy R20 | HP:0040282 - Frequent | | | | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | DMD CL E G H | 1756 | 2928 | ORPHA:206546 | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | | | | 1496 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:453533 | Polyendocrine-polyneuropathy syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 167 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:158600 | Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant | . | | | 427 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:268 | Dysferlin-related limb-girdle muscular dystrophy R2 | HP:0040282 - Frequent | | | 600 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | HP:0040282 - Frequent | | | 600 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 107 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 68 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | FLNC CL E G H | 2318 | 3756 | ORPHA:63273 | Distal myopathy with posterior leg and anterior hand involvement | HP:0040283 - Occasional | | | 197 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive | | | | 108 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309169 | Sandhoff disease, adult form | | | | 80 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | HP:0040283 - Occasional | | | 81 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | HNRNPA1 CL E G H | 3178 | 5031 | OMIM:615424 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 | | | | 31 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | LAMA2 CL E G H | 3908 | 6482 | OMIM:618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 | | | | 411 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | LIPE CL E G H | 3991 | 6621 | ORPHA:435660 | LIPE-related familial partial lipodystrophy | HP:0040282 - Frequent | | | 7 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 645 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 645 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | | | | 203 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | MLIP CL E G H | 90523 | 21355 | OMIM:620138 | | | | | | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040283 - Occasional | | | 8 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 7 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 19 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:59135 | Laing early-onset distal myopathy | HP:0040283 - Occasional | | | 1269 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | HP:0040283 - Occasional | | | 118 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | PHKA1 CL E G H | 5255 | 8925 | OMIM:300559 | Muscle glycogenosis, X-linked | | | | 54 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | POGLUT1 CL E G H | 56983 | 22954 | OMIM:617232 | Muscular dystrophy, limb-girdle, type 2Z | . | | | 6 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 464 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 45 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | POPDC3 CL E G H | 64208 | 17649 | OMIM:618848 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26 | | | | | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | REEP1 CL E G H | 65055 | 25786 | ORPHA:101011 | Autosomal dominant spastic paraplegia type 31 | HP:0040281 - Very frequent | | | 87 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 125 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 1200 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | SBF2 CL E G H | 81846 | 2135 | ORPHA:99956 | Charcot-Marie-Tooth disease type 4B2 | | | | 180 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | SECISBP2 CL E G H | 79048 | 30972 | ORPHA:171706 | Short stature-delayed bone age due to thyroid hormone metabolism deficiency | | | | 3 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 68 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253300 | Spinal muscular atrophy, type I | . | | | 22 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | SMPX CL E G H | 23676 | 11122 | OMIM:301075 | MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7 | | | | 12 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | SORD CL E G H | 6652 | 11184 | OMIM:618912 | SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD | | | | | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 1129 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 508 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | TCAP CL E G H | 8557 | 11610 | OMIM:601954 | Muscular dystrophy, limb-girdle, type 2G | . | | | 78 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 171 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | | | | 108 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:1878 | TRIM32-related limb-girdle muscular dystrophy R8 | HP:0040281 - Very frequent | | | 108 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | TTN CL E G H | 7273 | 12403 | OMIM:603689 | Myopathy, myofibrillar, 9, with early respiratory failure | | | | 7128 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:609 | Tibial muscular dystrophy | HP:0040283 - Occasional | | | 7128 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 113 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | VCP CL E G H | 7415 | 12666 | OMIM:613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | | | | 63 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | HP:0040283 - Occasional | | | 63 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | VMA21 CL E G H | 203547 | 22082 | OMIM:310440 | Myopathy, X-linked, with excessive autophagy | . | | | 10 | | |
HP:0008994 | HP:0008994 | Proximal muscle weakness in lower limbs | 0 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0008994 | HP:0003731 | Quadriceps muscle weakness | 1 | ADSS1 CL E G H | 122622 | 20093 | ORPHA:482601 | Adenylosuccinate synthetase-like 1-related distal myopathy | HP:0040282 - Frequent | | | | | |
HP:0008994 | HP:0003731 | Quadriceps muscle weakness | 1 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:610 | Bethlem myopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0008994 | HP:0003731 | Quadriceps muscle weakness | 1 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:610 | Bethlem myopathy | HP:0040282 - Frequent | | | 442 | | |
HP:0008994 | HP:0003731 | Quadriceps muscle weakness | 1 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:610 | Bethlem myopathy | HP:0040282 - Frequent | | | 478 | | |
HP:0008994 | HP:0003731 | Quadriceps muscle weakness | 1 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:610 | Bethlem myopathy | HP:0040282 - Frequent | | | 702 | | |
HP:0008994 | HP:0003731 | Quadriceps muscle weakness | 1 | DMD CL E G H | 1756 | 2928 | ORPHA:206546 | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | | | | 1496 | | |
HP:0008994 | HP:0003731 | Quadriceps muscle weakness | 1 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | HP:0040282 - Frequent | | | 600 | | |
HP:0008994 | HP:0003731 | Quadriceps muscle weakness | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0008994 | HP:0003731 | Quadriceps muscle weakness | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0008994 | HP:0003731 | Quadriceps muscle weakness | 1 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | |
HP:0008994 | HP:0003731 | Quadriceps muscle weakness | 1 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | HP:0040283 - Occasional | | | 203 | | |
HP:0008994 | HP:0003731 | Quadriceps muscle weakness | 1 | PHKA1 CL E G H | 5255 | 8925 | OMIM:300559 | Muscle glycogenosis, X-linked | | | | 54 | | |
HP:0008994 | HP:0003731 | Quadriceps muscle weakness | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 464 | | |
HP:0008994 | HP:0003731 | Quadriceps muscle weakness | 1 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 45 | | |
HP:0008994 | HP:0003731 | Quadriceps muscle weakness | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 125 | | |
HP:0008994 | HP:0003731 | Quadriceps muscle weakness | 1 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 68 | | |
HP:0008994 | HP:0003731 | Quadriceps muscle weakness | 1 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | . | | | 108 | | |
HP:0008994 | HP:0003731 | Quadriceps muscle weakness | 1 | TTN CL E G H | 7273 | 12403 | OMIM:603689 | Myopathy, myofibrillar, 9, with early respiratory failure | | | | 7128 | | |
HP:0008994 | HP:0003731 | Quadriceps muscle weakness | 1 | TTN CL E G H | 7273 | 12403 | ORPHA:609 | Tibial muscular dystrophy | HP:0040283 - Occasional | | | 7128 | | |
HP:0008994 | HP:0003731 | Quadriceps muscle weakness | 1 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 113 | | |
HP:0008994 | HP:0003731 | Quadriceps muscle weakness | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | HP:0040283 - Occasional | | | 63 | | |