Dentro de los servicios qGenEx, los paneles de exoma dirigido permiten restringir el estudio a un grupo de genes concreto según especialidad.
qGenEx MI analiza 146 genes asociados a diferentes miopatías usando secuenciación de exoma completo mediante NGS.
Utiliza el buscador para encontrar el grupo de genes relacionados con la patología que te interesa incluidos en el panel:
Gene | Median coverage | % covered > 10x | % covered > 20x | Associated Phenotype description and OMIM disease ID | |
---|---|---|---|---|---|
ACADVL | 128.3 | 0.99 | 0.97 | VLCAD deficiency, | 201475 |
ACTA1 | 114 | 0.99 | 0.98 | Myopathy, actin, congenital, with cores, | 161800 |
ACTA1 | 114 | 0.99 | 0.98 | Myopathy, actin, congenital, with excess of thin myofilaments, | 161800 |
ACTA1 | 114 | 0.99 | 0.98 | Myopathy, congenital, with fiber-type disproportion 1 | 255310 |
ACTA1 | 114 | 0.99 | 0.98 | Nemaline myopathy 3 autosomal dominant or recessive, | 161800 |
ACTA1 | 114 | 0.99 | 0.98 | ?Myopathy, scapulohumeroperoneal, | 616852 |
ACVR1 | 180.1 | 1 | 0.99 | Fibrodysplasia ossificans progressiva, | 135100 |
AGL | 164.6 | 0.99 | 0.97 | Glycogen storage disease IIIa, | 232400 |
AGL | 164.6 | 0.99 | 0.97 | Glycogen storage disease IIIb, | 232400 |
AGRN | 124.3 | 0.96 | 0.91 | Myasthenic syndrome, congenital, 8 with pre- and postsynaptic defects, | 615120 |
ANO5 | 162.3 | 0.98 | 0.95 | Gnathodiaphyseal dysplasia, | 166260 |
ANO5 | 162.3 | 0.98 | 0.95 | Miyoshi muscular dystrophy 3 | 613319 |
ANO5 | 162.3 | 0.98 | 0.95 | Muscular dystrophy, limb-girdle, type 2L, | 611307 |
ATP2A1 | 176.2 | 1 | 0.99 | Brody myopathy, | 601003 |
ATP7A | 157.3 | 0.99 | 0.97 | Menkes disease, | 309400 |
ATP7A | 157.3 | 0.99 | 0.97 | Occipital horn syndrome, | 304150 |
ATP7A | 157.3 | 0.99 | 0.97 | Spinal muscular atrophy, distal, X-linked 3 | 300489 |
B3GALNT2 | 134.9 | 0.92 | 0.9 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 | 615181 |
B3GNT1 | 126 | 1 | 1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 | 615287 |
BAG3 | 131.2 | 1 | 0.99 | Cardiomyopathy, dilated, 1HH, | 613881 |
BAG3 | 131.2 | 1 | 0.99 | Myopathy, myofibrillar, 6 | 612954 |
BICD2 | 162.1 | 1 | 0.99 | Spinal muscular atrophy, lower extremity-predominant, 2 AD, | 615290 |
BIN1 | 119.4 | 0.99 | 0.96 | Myopathy, centronuclear, autosomal recessive, | 255200 |
CACNA1S | 155 | 1 | 0.99 | Hypokalemic periodic paralysis, type 1 | 170400 |
CACNA1S | 155 | 1 | 0.99 | {Malignant hyperthermia susceptibility 5}, | 601887 |
CACNA1S | 155 | 1 | 0.99 | {Thyrotoxic periodic paralysis, susceptibility to, 1}, | 188580 |
CAPN3 | 132.6 | 0.99 | 0.97 | Muscular dystrophy, limb-girdle, type 2A, | 253600 |
CASQ1 | 135.1 | 1 | 0.99 | Myopathy, vacuolar, with CASQ1 aggregates, | 616231 |
CAV3 | 297.8 | 1 | 1 | Cardiomyopathy, familial hypertrophic, | 192600 |
CAV3 | 297.8 | 1 | 1 | Creatine phosphokinase, elevated serum, | 123320 |
CAV3 | 297.8 | 1 | 1 | Long QT syndrome 9 | 611818 |
CAV3 | 297.8 | 1 | 1 | Muscular dystrophy, limb-girdle, type IC, | 607801 |
CAV3 | 297.8 | 1 | 1 | Myopathy, distal, Tateyama type, | 614321 |
CAV3 | 297.8 | 1 | 1 | Rippling muscle disease, | 606072 |
CCDC78 | 118.4 | 1 | 0.99 | Myopathy, centronuclear, 4 | 614807 |
CFL2 | 135.7 | 0.93 | 0.85 | Nemaline myopathy 7 autosomal recessive, | 610687 |
CHAT | 145.1 | 0.92 | 0.86 | Myasthenic syndrome, congenital, 6 presynaptic, | 254210 |
CHCHD10 | 25.8 | 0.58 | 0.38 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 |
CHCHD10 | 25.8 | 0.58 | 0.38 | Spinal muscular atrophy, Jokela type, | 615048 |
CHCHD10 | 25.8 | 0.58 | 0.38 | ?Myopathy, isolated mitochondrial, autosomal dominant, | 616209 |
CHKB | 101.2 | 0.99 | 0.96 | Muscular dystrophy, congenital, megaconial type, | 602541 |
CHRNA1 | 134.4 | 1 | 0.99 | Multiple pterygium syndrome, lethal type, | 253290 |
CHRNA1 | 134.4 | 1 | 0.99 | Myasthenic syndrome, congenital, 1A, slow-channel, | 601462 |
CHRNA1 | 134.4 | 1 | 0.99 | Myasthenic syndrome, congenital, 1B, fast-channel, | 608930 |
CHRNB1 | 159.1 | 0.98 | 0.96 | Myasthenic syndrome, congenital, 2A, slow-channel, | 616313 |
CHRNB1 | 159.1 | 0.98 | 0.96 | ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, | 616314 |
CHRND | 177.5 | 0.99 | 0.99 | Multiple pterygium syndrome, lethal type, | 253290 |
CHRND | 177.5 | 0.99 | 0.99 | Myasthenic syndrome, congenital, 3B, fast-channel, | 616322 |
CHRND | 177.5 | 0.99 | 0.99 | ?Myasthenic syndrome, congenital, 3A, slow-channel, | 616321 |
CHRND | 177.5 | 0.99 | 0.99 | ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, | 616323 |
CHRNE | 146.4 | 0.99 | 0.96 | Myasthenic syndrome, congenital, 4A, slow-channel, | 605809 |
CHRNE | 146.4 | 0.99 | 0.96 | Myasthenic syndrome, congenital, 4B, fast-channel, | 616324 |
CHRNE | 146.4 | 0.99 | 0.96 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, | 608931 |
CLCN1 | 161.2 | 0.99 | 0.99 | Myotonia congenita, dominant, | 160800 |
CLCN1 | 161.2 | 0.99 | 0.99 | Myotonia congenita, recessive, | 255700 |
CLCN1 | 161.2 | 0.99 | 0.99 | Myotonia levior, recessive | 255700 |
CNTN1 | 184.9 | 0.99 | 0.98 | ?Myopathy, congenital, Compton-North, | 612540 |
COL12A1 | 154.4 | 0.99 | 0.97 | Bethlem myopathy 2 | 616471 |
COL12A1 | 154.4 | 0.99 | 0.97 | ?Ullrich congenital muscular dystrophy 2 | 616470 |
COL13A1 | 92.4 | 0.99 | 0.94 | Myasthenic syndrome, congenital, 19 | 616720 |
COL6A1 | 152.6 | 0.99 | 0.98 | Bethlem myopathy 1 | 158810 |
COL6A1 | 152.6 | 0.99 | 0.98 | Ullrich congenital muscular dystrophy 1 | 254090 |
COL6A2 | 166.9 | 0.99 | 0.99 | Bethlem myopathy 1 | 158810 |
COL6A2 | 166.9 | 0.99 | 0.99 | Ullrich congenital muscular dystrophy 1 | 254090 |
COL6A2 | 166.9 | 0.99 | 0.99 | ?Myosclerosis, congenital, | 255600 |
COL6A3 | 190.5 | 1 | 0.99 | Bethlem myopathy 1 | 158810 |
COL6A3 | 190.5 | 1 | 0.99 | Dystonia 27 | 616411 |
COL6A3 | 190.5 | 1 | 0.99 | Ullrich congenital muscular dystrophy 1 | 254090 |
COLQ | 125.7 | 0.99 | 0.98 | Myasthenic syndrome, congenital, 5 | 603034 |
CPT2 | 168.6 | 0.98 | 0.96 | CPT deficiency, hepatic, type II, | 600649 |
CPT2 | 168.6 | 0.98 | 0.96 | CPT II deficiency, lethal neonatal, | 608836 |
CPT2 | 168.6 | 0.98 | 0.96 | Myopathy due to CPT II deficiency, | 255110 |
CPT2 | 168.6 | 0.98 | 0.96 | {Encephalopathy, acute, infection-induced, 4 susceptibility to}, | 614212 |
CRYAB | 131.2 | 0.99 | 0.97 | Cardiomyopathy, dilated, 1II, | 615184 |
CRYAB | 131.2 | 0.99 | 0.97 | Cataract 16 multiple types, | 613763 |
CRYAB | 131.2 | 0.99 | 0.97 | Myopathy, myofibrillar, 2 | 608810 |
CRYAB | 131.2 | 0.99 | 0.97 | Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related, | 613869 |
DAG1 | 221.2 | 1 | 1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 | 616538 |
DAG1 | 221.2 | 1 | 1 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 | 613818 |
DES | 138.3 | 0.99 | 0.98 | Cardiomyopathy, dilated, 1I, | 604765 |
DES | 138.3 | 0.99 | 0.98 | Myopathy, myofibrillar, 1 | 601419 |
DES | 138.3 | 0.99 | 0.98 | Scapuloperoneal syndrome, neurogenic, Kaeser type, | 181400 |
DES | 138.3 | 0.99 | 0.98 | ?Muscular dystrophy, limb-girdle, type 2R, | 615325 |
DMD | 147.3 | 0.99 | 0.97 | Becker muscular dystrophy, | 300376 |
DMD | 147.3 | 0.99 | 0.97 | Cardiomyopathy, dilated, 3B, | 302045 |
DMD | 147.3 | 0.99 | 0.97 | Duchenne muscular dystrophy, | 310200 |
DNA2 | 149.3 | 0.99 | 0.97 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 | 615156 |
DNA2 | 149.3 | 0.99 | 0.97 | ?Seckel syndrome 8 | 615807 |
DNAJB6 | 66.2 | 0.9 | 0.76 | Muscular dystrophy, limb-girdle, type 1E, | 603511 |
DNM2 | 143.2 | 0.98 | 0.96 | Charcot-Marie-Tooth disease, axonal, type 2M, | 606482 |
DNM2 | 143.2 | 0.98 | 0.96 | Charcot-Marie-Tooth disease, dominant intermediate B, | 606482 |
DNM2 | 143.2 | 0.98 | 0.96 | Lethal congenital contracture syndrome 5 | 615368 |
DNM2 | 143.2 | 0.98 | 0.96 | Myopathy, centronuclear, | 160150 |
DOK7 | 88.3 | 0.95 | 0.91 | Myasthenic syndrome, congenital, 10 | 254300 |
DOK7 | 88.3 | 0.95 | 0.91 | ?Fetal akinesia deformation sequence, | 208150 |
DPAGT1 | 134.5 | 1 | 1 | Congenital disorder of glycosylation, type Ij, | 608093 |
DPAGT1 | 134.5 | 1 | 1 | Myasthenic syndrome, congenital, 13 with tubular aggregates, | 614750 |
DPM1 | 136.9 | 0.89 | 0.84 | Congenital disorder of glycosylation, type Ie, | 608799 |
DPM2 | 115.2 | 1 | 0.99 | Congenital disorder of glycosylation, type Iu, | 615042 |
DPM3 | 165.1 | 1 | 1 | Congenital disorder of glycosylation, type Io, | 612937 |
DYNC1H1 | 196.8 | 1 | 0.99 | Charcot-Marie-Tooth disease, axonal, type 20 | 614228 |
DYNC1H1 | 196.8 | 1 | 0.99 | Mental retardation, autosomal dominant 13 | 614563 |
DYNC1H1 | 196.8 | 1 | 0.99 | Spinal muscular atrophy, lower extremity-predominant 1 AD, | 158600 |
DYSF | 146.8 | 1 | 0.99 | Miyoshi muscular dystrophy 1 | 254130 |
DYSF | 146.8 | 1 | 0.99 | Muscular dystrophy, limb-girdle, type 2B, | 253601 |
DYSF | 146.8 | 1 | 0.99 | Myopathy, distal, with anterior tibial onset, | 606768 |
ECEL1 | 102.7 | 0.91 | 0.83 | Arthrogryposis, distal, type 5D, | 615065 |
EMD | 113.7 | 0.99 | 0.96 | Emery-Dreifuss muscular dystrophy 1 X-linked, | 310300 |
ENO3 | 202 | 1 | 0.99 | ?Glycogen storage disease XIII, | 612932 |
ERBB3 | 146.5 | 0.99 | 0.99 | Lethal congenital contractural syndrome 2 | 607598 |
EXOSC8 | 93.2 | 0.91 | 0.79 | Pontocerebellar hypoplasia, type 1C, | 616081 |
FAM111B | 165.3 | 1 | 1 | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, | 616081 |
FAM111B | 165.3 | 1 | 1 | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, | 615704 |
FHL1 | 101.9 | 0.98 | 0.9 | Emery-Dreifuss muscular dystrophy 6 X-linked, | 300696 |
FHL1 | 101.9 | 0.98 | 0.9 | Hemophagocytic lymphohistiocytosis, familial, 1 | 300696 |
FHL1 | 101.9 | 0.98 | 0.9 | Myopathy, X-linked, with postural muscle atrophy, | 300696 |
FHL1 | 101.9 | 0.98 | 0.9 | Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, | 300717 |
FHL1 | 101.9 | 0.98 | 0.9 | Reducing body myopathy, X-linked 1b, with late childhood or adult onset, | 300718 |
FHL1 | 101.9 | 0.98 | 0.9 | Scapuloperoneal myopathy, X-linked dominant, | 300695 |
FKBP14 | 81.3 | 0.99 | 0.98 | Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, | 614557 |
FKRP | 93 | 0.99 | 0.98 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 | 613153 |
FKRP | 93 | 0.99 | 0.98 | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 | 613153 |
FKRP | 93 | 0.99 | 0.98 | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 | 606612 |
FKRP | 93 | 0.99 | 0.98 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | 607155 |
FKTN | 157.4 | 0.98 | 0.93 | Cardiomyopathy, dilated, 1X, | 611615 |
FKTN | 157.4 | 0.98 | 0.93 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 253800 |
FKTN | 157.4 | 0.98 | 0.93 | Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 | 613152 |
FKTN | 157.4 | 0.98 | 0.93 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | 611588 |
FLNC | 179.2 | 1 | 0.99 | Cardiomyopathy, familial hypertrophic, 26 | 611588 |
FLNC | 179.2 | 1 | 0.99 | Cardiomyopathy, familial restrictive 5 | 617047 |
FLNC | 179.2 | 1 | 0.99 | Myopathy, distal, 4 | 614065 |
FLNC | 179.2 | 1 | 0.99 | Myopathy, myofibrillar, 5 | 609524 |
GAA | 126.1 | 1 | 0.99 | Glycogen storage disease II, | 232300 |
GBE1 | 171.8 | 0.99 | 0.97 | Glycogen storage disease IV, | 232500 |
GBE1 | 171.8 | 0.99 | 0.97 | Polyglucosan body disease, adult form, | 263570 |
GFPT1 | 160.1 | 0.99 | 0.97 | Myasthenia, congenital, 12 with tubular aggregates, | 610542 |
GNE | 176.5 | 0.99 | 0.99 | Nonaka myopathy, | 605820 |
GNE | 176.5 | 0.99 | 0.99 | Sialuria, | 269921 |
GYG1 | 145.7 | 0.99 | 0.98 | Polyglucosan body myopathy 2 | 616199 |
GYG1 | 145.7 | 0.99 | 0.98 | ?Glycogen storage disease XV, | 613507 |
GYS1 | 122.6 | 0.99 | 0.98 | Glycogen storage disease 0 muscle, | 611556 |
HSPG2 | 132 | 0.99 | 0.97 | Dyssegmental dysplasia, Silverman-Handmaker type, | 224410 |
HSPG2 | 132 | 0.99 | 0.97 | Schwartz-Jampel syndrome, type 1 | 255800 |
IGHMBP2 | 113.2 | 0.99 | 0.94 | Charcot-Marie-Tooth disease, axonal, type 2S, | 616155 |
IGHMBP2 | 113.2 | 0.99 | 0.94 | Neuronopathy, distal hereditary motor, type VI, | 604320 |
ISCU | 141 | 0.99 | 0.99 | Myopathy with lactic acidosis, hereditary, | 255125 |
ISPD | 120 | 0.95 | 0.85 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | 614643 |
ISPD | 120 | 0.95 | 0.85 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 | 616052 |
ITGA7 | 140.5 | 0.99 | 0.96 | Muscular dystrophy, congenital, due to ITGA7 deficiency, | 613204 |
KBTBD13 | 105.4 | 0.99 | 0.95 | Nemaline myopathy 6 autosomal dominant, | 609273 |
KCNJ2 | 227.7 | 1 | 1 | Andersen syndrome, | 170390 |
KCNJ2 | 227.7 | 1 | 1 | Atrial fibrillation, familial, 9 | 613980 |
KCNJ2 | 227.7 | 1 | 1 | Short QT syndrome 3 | 609622 |
KLHL40 | 148.8 | 1 | 1 | Nemaline myopathy 8 autosomal recessive, | 615348 |
KLHL41 | 215.6 | 1 | 0.99 | Nemaline myopathy 9 | 615731 |
KLHL9 | 299.6 | 1 | 1 | No OMIM phenotype | 615731 |
LAMA2 | 164.8 | 0.99 | 0.99 | Muscular dystrophy, congenital merosin-deficient, | 607855 |
LAMA2 | 164.8 | 0.99 | 0.99 | Muscular dystrophy, congenital, due to partial LAMA2 deficiency, | 607855 |
LAMP2 | 134.3 | 0.92 | 0.91 | Danon disease, | 300257 |
LARGE | 145.9 | 0.99 | 0.98 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 | 613154 |
LARGE | 145.9 | 0.99 | 0.98 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 | 608840 |
LDB3 | 134.4 | 0.95 | 0.92 | Cardiomyopathy, dilated, 1C, with or without LVNC, | 601493 |
LDB3 | 134.4 | 0.95 | 0.92 | Cardiomyopathy, hypertrophic, 24 | 601493 |
LDB3 | 134.4 | 0.95 | 0.92 | Left ventricular noncompaction 3 | 601493 |
LDB3 | 134.4 | 0.95 | 0.92 | Myopathy, myofibrillar, 4 | 609452 |
LDHA | 60.1 | 0.92 | 0.86 | Glycogen storage disease XI, | 612933 |
LMNA | 90.4 | 0.96 | 0.89 | Cardiomyopathy, dilated, 1A, | 115200 |
LMNA | 90.4 | 0.96 | 0.89 | Charcot-Marie-Tooth disease, type 2B1, | 605588 |
LMNA | 90.4 | 0.96 | 0.89 | Emery-Dreifuss muscular dystrophy 2 AD, | 181350 |
LMNA | 90.4 | 0.96 | 0.89 | Emery-Dreifuss muscular dystrophy 3 AR, | 616516 |
LMNA | 90.4 | 0.96 | 0.89 | Heart-hand syndrome, Slovenian type, | 610140 |
LMNA | 90.4 | 0.96 | 0.89 | Hutchinson-Gilford progeria, | 176670 |
LMNA | 90.4 | 0.96 | 0.89 | Lipodystrophy, familial partial, 2 | 151660 |
LMNA | 90.4 | 0.96 | 0.89 | Malouf syndrome, | 212112 |
LMNA | 90.4 | 0.96 | 0.89 | Mandibuloacral dysplasia, | 248370 |
LMNA | 90.4 | 0.96 | 0.89 | Muscular dystrophy, congenital, | 613205 |
LMNA | 90.4 | 0.96 | 0.89 | Muscular dystrophy, limb-girdle, type 1B, | 159001 |
LMNA | 90.4 | 0.96 | 0.89 | Restrictive dermopathy, lethal, | 275210 |
LMOD3 | 168.5 | 0.99 | 0.99 | Nemaline myopathy 10 | 616165 |
LPIN1 | 144.7 | 0.99 | 0.94 | Myoglobinuria, acute recurrent, autosomal recessive, | 268200 |
MATR3 | 94 | 0.96 | 0.89 | Amyotrophic lateral sclerosis 21 | 606070 |
MEGF10 | 169.8 | 1 | 0.99 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, | 614399 |
MEGF10 | 169.8 | 1 | 0.99 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, | 614399 |
MICU1 | 140 | 0.95 | 0.91 | Myopathy with extrapyramidal signs, | 615673 |
MSTN | 200.5 | 1 | 0.99 | Muscle hypertrophy, | 614160 |
MTM1 | 115.4 | 0.97 | 0.89 | Myotubular myopathy, X-linked, | 310400 |
MUSK | 183.4 | 1 | 0.99 | Fetal akinesia deformation sequence, | 208150 |
MUSK | 183.4 | 1 | 0.99 | Myasthenic syndrome, congenital, 9 associated with acetylcholine receptor deficiency, | 616325 |
MYF6 | 115.5 | 1 | 1 | Myopathy, centronuclear, 3 | 614408 |
MYH2 | 144.5 | 0.99 | 0.98 | Proximal myopathy and ophthalmoplegia, | 605637 |
MYH3 | 127.4 | 0.99 | 0.98 | Arthrogryposis, distal, type 2A, | 193700 |
MYH3 | 127.4 | 0.99 | 0.98 | Arthrogryposis, distal, type 2B, | 601680 |
MYH3 | 127.4 | 0.99 | 0.98 | Arthrogryposis, distal, type 8 | 178110 |
MYH7 | 128.2 | 0.99 | 0.96 | Cardiomyopathy, dilated, 1S, | 613426 |
MYH7 | 128.2 | 0.99 | 0.96 | Cardiomyopathy, hypertrophic, 1 | 192600 |
MYH7 | 128.2 | 0.99 | 0.96 | Left ventricular noncompaction 5 | 613426 |
MYH7 | 128.2 | 0.99 | 0.96 | Liang distal myopathy, | 160500 |
MYH7 | 128.2 | 0.99 | 0.96 | Myopathy, myosin storage, autosomal dominant, | 608358 |
MYH7 | 128.2 | 0.99 | 0.96 | Myopathy, myosin storage, autosomal recessive, | 255160 |
MYH7 | 128.2 | 0.99 | 0.96 | Scapuloperoneal syndrome, myopathic type, | 181430 |
MYOT | 159.8 | 0.99 | 0.97 | Muscular dystrophy, limb-girdle, type 1A, | 159000 |
MYOT | 159.8 | 0.99 | 0.97 | Myopathy, myofibrillar, 3 | 609200 |
MYOT | 159.8 | 0.99 | 0.97 | Myopathy, spheroid body, | 182920 |
NEB | 145.4 | 0.83 | 0.81 | Nemaline myopathy 2 autosomal recessive, | 256030 |
ORAI1 | 223.9 | 0.93 | 0.91 | Immunodeficiency 9 | 612782 |
ORAI1 | 223.9 | 0.93 | 0.91 | Myopathy, tubular aggregate, 2 | 615883 |
PABPN1 | 88.5 | 0.65 | 0.61 | Oculopharyngeal muscular dystrophy, | 164300 |
PFKM | 175.3 | 1 | 0.99 | Glycogen storage disease VII, | 232800 |
PGAM2 | 168.7 | 1 | 1 | Glycogen storage disease X, | 261670 |
PGK1 | 60 | 0.92 | 0.81 | Phosphoglycerate kinase 1 deficiency, | 300653 |
PGM1 | 143.1 | 0.99 | 0.99 | Congenital disorder of glycosylation, type It, | 614921 |
PHKA1 | 132.8 | 0.98 | 0.96 | Muscle glycogenosis, | 300559 |
PIP5K1C | 122.3 | 0.96 | 0.94 | Lethal congenital contractural syndrome 3 | 611369 |
PLEC | 114.2 | 0.99 | 0.98 | Epidermolysis bullosa simplex with muscular dystrophy, | 226670 |
PLEC | 114.2 | 0.99 | 0.98 | Epidermolysis bullosa simplex with pyloric atresia, | 612138 |
PLEC | 114.2 | 0.99 | 0.98 | Epidermolysis bullosa simplex, Ogna type, | 131950 |
PLEC | 114.2 | 0.99 | 0.98 | Muscular dystrophy, limb-girdle, type 2Q, | 613723 |
PLEC | 114.2 | 0.99 | 0.98 | ?Epidermolysis bullosa simplex with nail dystrophy, | 616487 |
PNPLA2 | 127.6 | 0.99 | 0.97 | Neutral lipid storage disease with myopathy, | 610717 |
POMGNT1 | 131.9 | 0.99 | 0.97 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | 253280 |
POMGNT1 | 131.9 | 0.99 | 0.97 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 | 613151 |
POMGNT1 | 131.9 | 0.99 | 0.97 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | 613157 |
POMGNT2 | 281.8 | 1 | 1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 | 614830 |
POMK | 225.3 | 1 | 1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 | 615249 |
POMK | 225.3 | 1 | 1 | ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 | 616094 |
POMT1 | 181 | 0.99 | 0.97 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | 236670 |
POMT1 | 181 | 0.99 | 0.97 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 | 613155 |
POMT1 | 181 | 0.99 | 0.97 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 | 609308 |
POMT2 | 120.5 | 0.98 | 0.96 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | 613150 |
POMT2 | 120.5 | 0.98 | 0.96 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 | 613156 |
POMT2 | 120.5 | 0.98 | 0.96 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 | 613158 |
PRPS1 | 201.5 | 1 | 1 | Arts syndrome, | 301835 |
PRPS1 | 201.5 | 1 | 1 | Charcot-Marie-Tooth disease, X-linked recessive, 5 | 311070 |
PRPS1 | 201.5 | 1 | 1 | Deafness, X-linked 1 | 304500 |
PRPS1 | 201.5 | 1 | 1 | Gout, PRPS-related, | 300661 |
PRPS1 | 201.5 | 1 | 1 | Phosphoribosylpyrophosphate synthetase superactivity, | 300661 |
PTRF | 142.9 | 0.99 | 0.98 | Lipodystrophy, congenital generalized, type 4 | 613327 |
PYGM | 160.1 | 1 | 0.99 | McArdle disease, | 232600 |
RAPSN | 142.9 | 0.98 | 0.94 | Fetal akinesia deformation sequence, | 208150 |
RAPSN | 142.9 | 0.98 | 0.94 | Myasthenic syndrome, congenital, 11 associated with acetylcholine receptor deficiency, | 616326 |
RBCK1 | 110.1 | 0.97 | 0.93 | Polyglucosan body myopathy 1 with or without immunodeficiency, | 615895 |
RYR1 | 130.8 | 0.97 | 0.94 | Central core disease, | 117000 |
RYR1 | 130.8 | 0.97 | 0.94 | King-Denborough syndrome, | 145600 |
RYR1 | 130.8 | 0.97 | 0.94 | Minicore myopathy with external ophthalmoplegia, | 255320 |
RYR1 | 130.8 | 0.97 | 0.94 | Neuromuscular disease, congenital, with uniform type 1 fiber, | 117000 |
RYR1 | 130.8 | 0.97 | 0.94 | {Malignant hyperthermia susceptibility 1}, | 145600 |
SCN4A | 246.9 | 0.99 | 0.99 | Hyperkalemic periodic paralysis, type 2 | 170500 |
SCN4A | 246.9 | 0.99 | 0.99 | Hypokalemic periodic paralysis, type 2 | 613345 |
SCN4A | 246.9 | 0.99 | 0.99 | Myasthenic syndrome, congenital, 16 | 614198 |
SCN4A | 246.9 | 0.99 | 0.99 | Myotonia congenita, atypical, acetazolamide-responsive, | 608390 |
SCN4A | 246.9 | 0.99 | 0.99 | Paramyotonia congenita, | 168300 |
SEPN1 | 120.9 | 0.86 | 0.83 | Muscular dystrophy, rigid spine, 1 | 602771 |
SEPN1 | 120.9 | 0.86 | 0.83 | Myopathy, congenital, with fiber-type disproportion, | 255310 |
SGCA | 158.9 | 0.99 | 0.99 | Muscular dystrophy, limb-girdle, type 2D, | 608099 |
SGCB | 180.5 | 0.97 | 0.96 | Muscular dystrophy, limb-girdle, type 2E, | 604286 |
SGCD | 104.4 | 1 | 0.98 | Cardiomyopathy, dilated, 1L, | 606685 |
SGCD | 104.4 | 1 | 0.98 | Muscular dystrophy, limb-girdle, type 2F, | 601287 |
SGCG | 142.9 | 1 | 1 | Muscular dystrophy, limb-girdle, type 2C, | 253700 |
SLC18A2 | 141.4 | 1 | 0.99 | No OMIM phenotype | 253700 |
SLC18A2 | 141.4 | 1 | 0.99 | Parkinsonian disorder, infantile hypotonic (Jacobsen -2016 J Inherit Metab Dis 39,305) | 253700 |
SLC18A2 | 141.4 | 1 | 0.99 | ?Intellectual disability, microcephaly, cortical atrophy and dementia (Karaca -2015 Neuron 88 499) | 253700 |
SLC18A2 | 141.4 | 1 | 0.99 | ?Schizophrenia (Gulsuner -2013 Cell 154 518) | 253700 |
SLC52A2 | 196.4 | 1 | 1 | Brown-Vialetto-Van Laere syndrome 2 | 614707 |
SLC52A3 | 124.5 | 1 | 0.99 | Brown-Vialetto-Van Laere syndrome 1 | 211530 |
SLC52A3 | 124.5 | 1 | 0.99 | Fazio-Londe disease, | 211500 |
SMCHD1 | 106.6 | 0.96 | 0.9 | Fascioscapulohumeral muscular dystrophy 2 digenic, | 158901 |
SPEG | 101.7 | 0.95 | 0.88 | Centronuclear myopathy 5 | 615959 |
STIM1 | 143.1 | 0.99 | 0.96 | Immunodeficiency 10 | 612783 |
STIM1 | 143.1 | 0.99 | 0.96 | Myopathy, tubular aggregate, 1 | 160565 |
STIM1 | 143.1 | 0.99 | 0.96 | Stormorken syndrome, | 185070 |
TCAP | 89.2 | 1 | 1 | Cardiomyopathy, hypertrophic, 25 | 607487 |
TCAP | 89.2 | 1 | 1 | Muscular dystrophy, limb-girdle, type 2G, | 601954 |
TMEM5 | 140 | 0.93 | 0.9 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 | 615041 |
TNNI2 | 134.1 | 0.99 | 0.99 | Arthrogryposis multiplex congenita, distal, type 2B, | 601680 |
TNNT1 | 105.3 | 0.97 | 0.93 | Nemaline myopathy 5 Amish type, | 605355 |
TNPO3 | 158 | 1 | 0.99 | Muscular dystrophy, limb-girdle, type 1F, | 608423 |
TPM2 | 127.7 | 1 | 0.99 | Arthrogryposis multiplex congenita, distal, type 1 | 108120 |
TPM2 | 127.7 | 1 | 0.99 | Arthrogryposis, distal, type 2B, | 601680 |
TPM2 | 127.7 | 1 | 0.99 | CAP myopathy 2 | 609285 |
TPM2 | 127.7 | 1 | 0.99 | Nemaline myopathy 4 autosomal dominant, | 609285 |
TPM3 | 99.3 | 0.89 | 0.88 | CAP myopathy 1 | 609284 |
TPM3 | 99.3 | 0.89 | 0.88 | Myopathy, congenital, with fiber-type disproportion, | 255310 |
TPM3 | 99.3 | 0.89 | 0.88 | Nemaline myopathy 1 autosomal dominant or recessive, | 609284 |
TRAPPC11 | 140.7 | 0.98 | 0.95 | Muscular dystrophy, limb-girdle, type 2S, | 615356 |
TRIM32 | 152.9 | 1 | 1 | Muscular dystrophy, limb-girdle, type 2H, | 254110 |
TRIM32 | 152.9 | 1 | 1 | ?Bardet-Biedl syndrome 11 | 615988 |
TRPV4 | 199.2 | 0.99 | 0.98 | Brachyolmia type 3 | 113500 |
TRPV4 | 199.2 | 0.99 | 0.98 | Digital arthropathy-brachydactyly, familial, | 606835 |
TRPV4 | 199.2 | 0.99 | 0.98 | Hereditary motor and sensory neuropathy, type IIc, | 606071 |
TRPV4 | 199.2 | 0.99 | 0.98 | Metatropic dysplasia, | 156530 |
TRPV4 | 199.2 | 0.99 | 0.98 | Parastremmatic dwarfism, | 168400 |
TRPV4 | 199.2 | 0.99 | 0.98 | Scapuloperoneal spinal muscular atrophy, | 181405 |
TRPV4 | 199.2 | 0.99 | 0.98 | SED, Maroteaux type, | 184095 |
TRPV4 | 199.2 | 0.99 | 0.98 | Spinal muscular atrophy, distal, congenital nonprogressive, | 600175 |
TRPV4 | 199.2 | 0.99 | 0.98 | Spondylometaphyseal dysplasia, Kozlowski type, | 184252 |
TRPV4 | 199.2 | 0.99 | 0.98 | [Sodium serum level QTL 1], | 613508 |
TTC19 | 106.2 | 0.9 | 0.81 | Mitochondrial complex III deficiency, nuclear type 2 | 615157 |
TTN | 219 | 0.98 | 0.97 | Cardiomyopathy, dilated, 1G, | 604145 |
TTN | 219 | 0.98 | 0.97 | Cardiomyopathy, familial hypertrophic, 9 | 613765 |
TTN | 219 | 0.98 | 0.97 | Muscular dystrophy, limb-girdle, type 2J, | 608807 |
TTN | 219 | 0.98 | 0.97 | Myopathy, early-onset, with fatal cardiomyopathy, | 611705 |
TTN | 219 | 0.98 | 0.97 | Myopathy, proximal, with early respiratory muscle involvement, | 603689 |
TTN | 219 | 0.98 | 0.97 | Tibial muscular dystrophy, tardive, | 600334 |
UBA1 | 177.6 | 0.99 | 0.98 | Spinal muscular atrophy, X-linked 2 infantile, | 301830 |
VCP | 168.4 | 0.99 | 0.99 | Amyotrophic lateral sclerosis 14 with or without frontotemporal dementia, | 613954 |
VCP | 168.4 | 0.99 | 0.99 | Charcot-Marie-Tooth disease, type 2Y, | 616687 |
VCP | 168.4 | 0.99 | 0.99 | Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 | 167320 |
VIPAS39 | 163.3 | 1 | 0.99 | Arthrogryposis, renal dysfunction, and cholestasis 2 | 613404 |
VMA21 | 47.2 | 0.93 | 0.82 | Myopathy, X-linked, with excessive autophagy, | 310440 |
VRK1 | 147 | 0.98 | 0.95 | Pontocerebellar hypoplasia type 1A, | 607596 |