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:0007126 | HP:0007126 | Proximal amyotrophy | 0 | ADSS1 CL E G H | 122622 | 20093 | ORPHA:482601 | Adenylosuccinate synthetase-like 1-related distal myopathy | | | | | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | | | | 304 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | ANO5 CL E G H | 203859 | 27337 | OMIM:613319 | Miyoshi muscular dystrophy 3 | | | | 304 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | ARMC5 CL E G H | 79798 | 25781 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 7 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | CAPN3 CL E G H | 825 | 1480 | OMIM:618129 | Muscular dystrophy, limb-girdle, autosomal dominant 4 | . | | | 323 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | CAPN3 CL E G H | 825 | 1480 | OMIM:253600 | Muscular dystrophy, limb-girdle, type 2A | . | | | 323 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 167 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | DOK7 CL E G H | 285489 | 26594 | OMIM:254300 | Myasthenia, limb-girdle, familial | . | | | 91 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:158600 | Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant | | | | 427 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | HP:0040282 - Frequent | | | 600 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | | | | 107 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | | | | 68 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 157 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | . | | | 157 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 184 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | FUS CL E G H | 2521 | 4010 | OMIM:608030 | Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia | . | | | 105 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:610542 | Myasthenic syndrome, congenital, with tubular aggregates 1 | . | | | 128 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 101 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | HNRNPDL CL E G H | 9987 | 5037 | OMIM:609115 | Limb-girdle muscular dystrophy, type 1G | | | | 5 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | INPP5K CL E G H | 51763 | 33882 | OMIM:617404 | Muscular dystrophy, congenital, with cataracts and intellectual disability | | | | 7 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 645 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | | | | 645 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | . | | | 11 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | | | | 8 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 7 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | | | | 1269 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255160 | Myopathy, myosin storage, autosomal recessive | | | | 1269 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | MYOT CL E G H | 9499 | 12399 | OMIM:182920 | Myopathy, spheroid body | . | | | 75 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | | | | 118 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 13 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | PDE8B CL E G H | 8622 | 8794 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 75 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:95433 | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 213 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:206559 | POMT2-related limb-girdle muscular dystrophy R14 | HP:0040282 - Frequent | | | 221 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 2 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 134 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | REEP1 CL E G H | 65055 | 25786 | ORPHA:101011 | Autosomal dominant spastic paraplegia type 31 | | | | 87 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | | | | 1200 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | SGCB CL E G H | 6443 | 10806 | OMIM:604286 | Muscular dystrophy, limb-girdle, type 2E | . | | | 113 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | SGCD CL E G H | 6444 | 10807 | ORPHA:219 | Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 | | | | 223 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | SGCD CL E G H | 6444 | 10807 | OMIM:601287 | Muscular dystrophy, limb-girdle, type 2F | . | | | 223 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253300 | Spinal muscular atrophy, type I | . | | | 22 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 22 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:271150 | Spinal muscular atrophy, type IV | . | | | 22 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | SMN2 CL E G H | 6607 | 11118 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 1 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:160565 | Myopathy, tubular aggregate, 1 | . | | | 31 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 1129 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | SYNE1 CL E G H | 23345 | 17089 | OMIM:612998 | Emery-Dreifuss muscular dystrophy 4, autosomal dominant | . | | | 1129 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 508 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | SYNE2 CL E G H | 23224 | 17084 | OMIM:612999 | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | . | | | 508 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | SYT2 CL E G H | 127833 | 11510 | OMIM:616040 | Myasthenic syndrome, congenital, 7, presynaptic | | | | 4 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | TCAP CL E G H | 8557 | 11610 | OMIM:601954 | Muscular dystrophy, limb-girdle, type 2G | | | | 78 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | TFG CL E G H | 10342 | 11758 | OMIM:604484 | Neuropathy, hereditary motor and sensory, Okinawa type | . | | | 18 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 171 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | TMEM43 CL E G H | 79188 | 28472 | OMIM:614302 | Emery-Dreifuss muscular dystrophy 7, autosomal dominant | . | | | 171 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | TNNT1 CL E G H | 7138 | 11948 | ORPHA:98902 | Amish nemaline myopathy | HP:0040282 - Frequent | | | 37 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | TNNT1 CL E G H | 7138 | 11948 | OMIM:605355 | NEMALINE MYOPATHY 5; NEM5 | | | | 37 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | TNXB CL E G H | 7148 | 11976 | OMIM:606408 | Ehlers-Danlos syndrome, classic-like | HP:0040283 - Occasional | | | 134 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | | | | 108 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:2596 | Myopathy and diabetes mellitus | HP:0040281 - Very frequent | | | | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | | | | 214 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | VAPB CL E G H | 9217 | 12649 | OMIM:608627 | Amyotrophic lateral sclerosis 8 | | | | 116 | | |
HP:0007126 | HP:0007126 | Proximal amyotrophy | 0 | VAPB CL E G H | 9217 | 12649 | OMIM:182980 | Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included | | | | 116 | | |
HP:0007126 | HP:0008956 | Proximal lower limb amyotrophy | 1 | ADSS1 CL E G H | 122622 | 20093 | ORPHA:482601 | Adenylosuccinate synthetase-like 1-related distal myopathy | | | | | | |
HP:0007126 | HP:0008956 | Proximal lower limb amyotrophy | 1 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | | | | 304 | | |
HP:0007126 | HP:0008956 | Proximal lower limb amyotrophy | 1 | ANO5 CL E G H | 203859 | 27337 | OMIM:613319 | Miyoshi muscular dystrophy 3 | | | | 304 | | |
HP:0007126 | HP:0008948 | Proximal upper limb amyotrophy | 1 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 167 | | |
HP:0007126 | HP:0008956 | Proximal lower limb amyotrophy | 1 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:158600 | Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant | . | | | 427 | | |
HP:0007126 | HP:0008956 | Proximal lower limb amyotrophy | 1 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 107 | | |
HP:0007126 | HP:0008948 | Proximal upper limb amyotrophy | 1 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 107 | | |
HP:0007126 | HP:0008956 | Proximal lower limb amyotrophy | 1 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 68 | | |
HP:0007126 | HP:0008948 | Proximal upper limb amyotrophy | 1 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 68 | | |
HP:0007126 | HP:0008956 | Proximal lower limb amyotrophy | 1 | HNRNPDL CL E G H | 9987 | 5037 | OMIM:609115 | Limb-girdle muscular dystrophy, type 1G | . | | | 5 | | |
HP:0007126 | HP:0008948 | Proximal upper limb amyotrophy | 1 | HNRNPDL CL E G H | 9987 | 5037 | OMIM:609115 | Limb-girdle muscular dystrophy, type 1G | . | | | 5 | | |
HP:0007126 | HP:0008948 | Proximal upper limb amyotrophy | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 645 | | |
HP:0007126 | HP:0008956 | Proximal lower limb amyotrophy | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 645 | | |
HP:0007126 | HP:0008948 | Proximal upper limb amyotrophy | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 645 | | |
HP:0007126 | HP:0008956 | Proximal lower limb amyotrophy | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 645 | | |
HP:0007126 | HP:0008956 | Proximal lower limb amyotrophy | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | |
HP:0007126 | HP:0008948 | Proximal upper limb amyotrophy | 1 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040282 - Frequent | | | 8 | | |
HP:0007126 | HP:0008948 | Proximal upper limb amyotrophy | 1 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 7 | | |
HP:0007126 | HP:0008956 | Proximal lower limb amyotrophy | 1 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | HP:0040283 - Occasional | | | 1269 | | |
HP:0007126 | HP:0008956 | Proximal lower limb amyotrophy | 1 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | HP:0040283 - Occasional | | | 118 | | |
HP:0007126 | HP:0008956 | Proximal lower limb amyotrophy | 1 | REEP1 CL E G H | 65055 | 25786 | ORPHA:101011 | Autosomal dominant spastic paraplegia type 31 | HP:0040282 - Frequent | | | 87 | | |
HP:0007126 | HP:0008956 | Proximal lower limb amyotrophy | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | | | | 1200 | | |
HP:0007126 | HP:0008956 | Proximal lower limb amyotrophy | 1 | SGCD CL E G H | 6444 | 10807 | ORPHA:219 | Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 | HP:0040282 - Frequent | | | 223 | | |
HP:0007126 | HP:0008948 | Proximal upper limb amyotrophy | 1 | SGCD CL E G H | 6444 | 10807 | ORPHA:219 | Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 | HP:0040282 - Frequent | | | 223 | | |
HP:0007126 | HP:0008956 | Proximal lower limb amyotrophy | 1 | SMN1 CL E G H | 6606 | 11117 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 22 | | |
HP:0007126 | HP:0008956 | Proximal lower limb amyotrophy | 1 | SMN1 CL E G H | 6606 | 11117 | OMIM:271150 | Spinal muscular atrophy, type IV | | | | 22 | | |
HP:0007126 | HP:0008956 | Proximal lower limb amyotrophy | 1 | SMN2 CL E G H | 6607 | 11118 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 1 | | |
HP:0007126 | HP:0008948 | Proximal upper limb amyotrophy | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 1129 | | |
HP:0007126 | HP:0008956 | Proximal lower limb amyotrophy | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 1129 | | |
HP:0007126 | HP:0008956 | Proximal lower limb amyotrophy | 1 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 508 | | |
HP:0007126 | HP:0008948 | Proximal upper limb amyotrophy | 1 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 508 | | |
HP:0007126 | HP:0008948 | Proximal upper limb amyotrophy | 1 | TCAP CL E G H | 8557 | 11610 | OMIM:601954 | Muscular dystrophy, limb-girdle, type 2G | . | | | 78 | | |
HP:0007126 | HP:0008956 | Proximal lower limb amyotrophy | 1 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 171 | | |
HP:0007126 | HP:0008948 | Proximal upper limb amyotrophy | 1 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 171 | | |
HP:0007126 | HP:0008948 | Proximal upper limb amyotrophy | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | | | | 214 | | |
HP:0007126 | HP:0009050 | Quadriceps muscle atrophy | 2 | ADSS1 CL E G H | 122622 | 20093 | ORPHA:482601 | Adenylosuccinate synthetase-like 1-related distal myopathy | HP:0040282 - Frequent | | | | | |
HP:0007126 | HP:0009050 | Quadriceps muscle atrophy | 2 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | HP:0040282 - Frequent | | | 304 | | |
HP:0007126 | HP:0009050 | Quadriceps muscle atrophy | 2 | ANO5 CL E G H | 203859 | 27337 | OMIM:613319 | Miyoshi muscular dystrophy 3 | . | | | 304 | | |
HP:0007126 | HP:0009050 | Quadriceps muscle atrophy | 2 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | | | | 1200 | | |
HP:0007126 | HP:0009050 | Quadriceps muscle atrophy | 2 | SMN1 CL E G H | 6606 | 11117 | OMIM:271150 | Spinal muscular atrophy, type IV | | | | 22 | | |
HP:0007126 | HP:0040191 | Rectus femoris muscle atrophy | 3 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | HP:0040283 - Occasional | | | 1200 | | |