| Disease phenotype | Item
in
this
table | Key
references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
| Duchenne/Becker Muscular Dystrophies - (XR) | 1.1 | | |  | * Duchenne muscular dystrophy - DMD | | * Becker muscular distrophy - BMD | | * Cardiomyopathy, Dilated, 3B - CMD3B | | * Cardiomyopathy, dilated, X-linked - XLCM |
|
| Emery-Dreifuss muscular dystrophy, X-linked , type 1 - (XR) | 1.2 | | | | * Emery-dreifuss muscular dystrophy 1 - EDMD1 |
|
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant - (AD) | 1.3 | | | | * Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1 | | * Hutchinson-Gilford progeria syndrome - HGPS | | * Mandibuloacral dysplasia with type a lipodystrophy - MADA | | * restrictive dermopathy | | * Lipodystrophy, familial partial, type 2 - FPLD2 | | * Cardiomyopathy, dilated, 1A - CMD1A | | * Congenital muscular dystrophy due to LMNA defect (L-CMD) | | * Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2 | | * Emery-Dreifuss Autosomal recessive - EDMD3 | | * Muscular dystrophy, limb-girdle, type 1B - LGMD1B |
|
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive - (AR) | 1.4 | | | | * Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1 | | * Hutchinson-Gilford progeria syndrome - HGPS | | * Mandibuloacral dysplasia with type a lipodystrophy - MADA | | * restrictive dermopathy | | * Lipodystrophy, familial partial, type 2 - FPLD2 | | * Cardiomyopathy, dilated, 1A - CMD1A | | * Congenital muscular dystrophy due to LMNA defect (L-CMD) | | * Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2 | | * Emery-Dreifuss Autosomal recessive - EDMD3 | | * Muscular dystrophy, limb-girdle, type 1B - LGMD1B |
|
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant - (AD) | 1.5 | | | Spectrin repeat containing, nuclear envelope 1 (nesprin 1)
|
|
| | * Dilated cardiomyopathy related to nesprin-1 | | * Spinocerebellar ataxia, autosomal recessive 8 - SCAR8 | | * Emery-dreifuss muscular dystrophy 4 - EDMD4 | | * Arthrogryposis multiplex congenita with nesprin-1 defect - AMCM |
|
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant - (AD) | 1.6 | | | Spectrin repeat containing, nuclear envelope 2 (nesprin 2)
|
|
| | * Nesprin-2 related muscular dystrophy - EDMD |
|
| Emery-Dreifuss muscular dystrophy 6, X-linked - (XR) | 1.7 | | | Four and a half LIM domain 1
|
|
| | * Scapuloperoneal myopathy, X-linked dominant - SPM | | * Emery-dreifuss muscular dystrophy 6 - EDMD6 | | * X-linked myopathy with postural muscle atrophy - XMPMA | | * Myopathy, reducing body, X-linked, childhood-onset | | * Rigid spine syndrome related to FHL1 - RSS | | * Myopathy, reducing body, X-linked, severe early-onset | | * Rigid spine syndrome - RSMD1 |
|
| Emery-Dreifuss muscular dystrophy 7, autosomal dominant - (AD) | 1.8 | | | | * luma related muscular dystrophy | | * arrhythmogenic right ventricular dysplasia, familial, 5 - ARVD5 | | * Emery-dreifuss muscular dystrophy 7 - EDMD7 |
|
| Myopathy with rigid spine and distal joint contractures
(Formerly LGMD2Y) - (AR) | 1.9 | | | Torsin A interacting protein 1
|
|
| | * LAP1B related muscular dystrophy | | * Limb-Girdle, Muscular dystrophy, type 2Y - LGMD2Y | | * Myopathy, autosomal recessive, with rigid spine and distal joint contractures - MRRSDC | | * Congenital myasthenic syndrome |
|
| Facio-scapulo-humeral muscular dystrophy, type 1 - (AD) | 1.10 | | | | * Muscular dystrophy, facioscapulohumeral, type 1A - FSHD1A |
|
| Facio-scapulo-humeral muscular dystrophy, type 2 | 1.11 | | | Structural maintenance of chromosomes flexible hinge domain containing 1
|
|
| | * Facio-scapulo-humeral muscular dystrophy, type 2 - FSHMD1B |
|
| Facio-scapulo-humeral muscular dystrophy - (AR) | 1.12 | | | Ligand-Dependent Nuclear Receptor-Interacting Factor 1
|
|
| | * Facio-scapulo-humeral muscular dystrophy - FSHD3 |
|
| Lipodystrophy, congenital generalized, type 4 - (AD) | 1.13 | | | Caveolae-associated protein 1(M)
|
|
| | * lipodystrophy, congenital generalized, type 4 - CGL4 |
|
| Muscular dystrophy with gnathodiaphyseal dysplasia - (AR) | 1.14 | | | | * Miyoshi muscular dystrophy 3
- MMD3 | | * Muscular dystrophy, limb-girdle, autosomal recessive 12 - LGMDR12 | | * Muscular dystrophy with gnathodiaphyseal dysplasia |
|
| Muscular dystrophy with hearing loss and ovarian insufficiency syndrome - (AR) | 1.15 | | | Geranylgeranyl Diphosphate Synthase 1
|
|
| | * Muscular dystrophy with hearing loss and ovarian insufficiency syndrome - MDHLO |
|
| Disease phenotype | Item
in
this
table | Key
references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
| Muscular dystrophy, limb-girdle, autosomal dominant 1 - (AD) | 1.16 | | | HSP-40 homologue, subfamily B, number 6
|
|
| | * LGMDD1 |
|
| Muscular dystrophy, limb-girdle, autosomal dominant 2 - (AD) | 1.17 | | | | * Muscular dystrophy, Limb-Girdle, Type 1F - LGMD1F | | * Congenital Myopathy related to TNPO3 |
|
| Muscular dystrophy, limb-girdle, autosomal dominant 3 - (AD) | 1.18 | | | Heterogeneous nuclear ribonucleoprotein D-like
|
|
| | * Limb-Girdle, Muscular dystrophy, type 1G - LGMD1G |
|
| Muscular dystrophy, limb-girdle, autosomal dominant 4 - (AD) | 1.19 | | | | * LGMDD4 | | * Muscular dystrophy, limb-girdle, type 2A - LGMD2A |
|
| Muscular dystrophy, limb-girdle, autosomal dominant 5 - (AD) | 1.20 | | | | * Bethlem myopathy | | * Ullrich congenital muscular dystrophy - UCMD1 | | * LGMDR22 | | * LGMDD5 |
|
| Muscular dystrophy, limb-girdle, autosomal dominant 5 - (AD) | 1.21 | | | | * myosclerosis, autosomal recessive | | * LGMDR22 | | * LGMDD5 | | * Bethlem myopathy | | * Ullrich scleroatonic muscular dystrophy - UCMD1 |
|
| Muscular dystrophy, limb-girdle, autosomal dominant 5 - (AD) | 1.22 | | | | * LGMDR22 | | * LGMDD5 | | * Bethlem myopathy | | * Ullrich congenital muscular dystrophy - UCMD1 |
|
| Rippling muscle disease 2 - (AD) | 1.23 | | | | * Myopathy distal, Tateyama type - MPDT | | * cardiomyopathy, familial hypertrophic - CMH | | * Creatine phosphokinase, elevated serum - CPK | | * Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) | | * Rippling muscle disease - RMD2 | | * Long QT syndrome 9 - LQT9 | | * Muscular dystrophy, limb-girdle, type IC - LGMD1C | | * Hyperckemia, idiopathic |
|
| LGMD related to CACNA1S, late-onset - (AD) | 1.24 | | | Calcium channel, voltage-dependent, L type, alpha 1S subunit
|
|
| | * Hypokalemic periodic paralysis - CACNL1A3 | | * Congenital myopathy with ophthalmoplegia related to CACNA1S | | * Malignant hyperthermia susceptibility 5 - MHS5 | | * Hypokalaemic periodic paralysis, type 1 - hypoKPP1 |
|
| Disease phenotype | Item
in
this
table | Key
references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
| Muscular dystrophy, limb-girdle, autosomal recessive 1 - (AR) | 1.25 | | | | * LGMDD4 | | * Muscular dystrophy, limb-girdle, type 2A - LGMD2A |
|
| Muscular dystrophy, limb-girdle, autosomal recessive 2 - (AR) | 1.26 | | | | * Miyoshi myopathy - MM | | * Muscular dystrophy, limb-girdle, type 2B - LGMD2B |
|
| Muscular dystrophy, limb-girdle, autosomal recessive 3 - (AR) | 1.27 | | | | * Muscular dystrophy, limb-girdle, type 2D - LGMD2D |
|
| Muscular dystrophy, limb-girdle, autosomal recessive 4 - (AR) | 1.28 | | | | * Muscular dystrophy, limb-girdle, type 2E - LGMD2E |
|
| Muscular dystrophy, limb-girdle, autosomal recessive 5 - (AR) | 1.29 | | | | * Muscular dystrophy, limb-girdle, type 2C - LGMD2C |
|
| Muscular dystrophy, limb-girdle, autosomal recessive 6 - (AR) | 1.30 | | | | * Dilated Cardiomyopathy, 1L - CMD1L | | * Muscular dystrophy, limb-girdle, type 2F - LGMD2F |
|
| Muscular dystrophy, limb-girdle, autosomal recessive 7 - (AR) | 1.31 | | | | * Dilated cardiomyopathy, 1N | | * Congenital musuclar dystrophy with telethonin defect | | * Hypertrophic cardiomyopathy related to TCAP - CMH25 | | * Muscular dystrophy, limb-girdle, type 2G - LGMD2G |
|
| Muscular dystrophy, limb-girdle, autosomal recessive 8 - (AR) | 1.32 | | | Tripartite motif-containing 32
|
|
| | * Sarcotubular myopathy | | * Muscular dystrophy, limb-girdle, type 2H - LGMD2H |
|
| Muscular dystrophy, limb-girdle, autosomal recessive 10 - (AR) | 1.33 | | | | * Hereditary myopathy with early respiratory failure - HMERF | | * Cardiomyopathy, familial hypertrophic, 9 - CMH9 | | * Congenital myopathy with fatal cardiomyopathy | | * Cardiomyopathy, dilated, 1G - CMD1G | | * Centronuclear myopathy related to TTN | | * LGMDR10 (Formerly LGMD2J) | | * Lethal Congenital Contracture Syndrome related to TTN | | * Congenital myopathy 5 with cardiomyopathy (formerly Salih myopathy) - CMYP5 (SALMY) | | * Autosomal dominant myopathy with proximal muscle weakness and early respiratory | | * Tibial muscular dystrophy, tardive - TMD | | * Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J |
|
| Muscular dystrophy, limb-girdle, autosomal recessive 12 - (AR) | 1.34 | | | | * Miyoshi muscular dystrophy 3
- MMD3 | | * Muscular dystrophy, limb-girdle, autosomal recessive 12 - LGMDR12 | | * Muscular dystrophy with gnathodiaphyseal dysplasia |
|
| Muscular dystrophy, limb-girdle, autosomal recessive 17 - (AR) | 1.35 | | | | * Limb-girdle, muscular dystrophy, type 2q - LGMD2Q | | * Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS | | * Myasthenic syndrome, with plectin defect | | * Limb girdle muscular dystrophy with ophthalmoplegia |
|
| Muscular dystrophy, limb-girdle, autosomal recessive 18 - (AR) | 1.36 | | | Trafficking protein particle complex 11
|
|
| | * Limb-Girdle, Muscular dystrophy, type 2S - LGMD2S | | * Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype - CMD |
|
| Muscular dystrophy, limb-girdle, autosomal recessive 21 - (AR) | 1.37 | | | Protein O-Glucosyltransferase 1
|
|
| | * Limb-Girdle, Muscular dystrophy, type 2Z - LGMD2Z |
|
| Muscular dystrophy, limb-girdle, autosomal recessive 22 - (AR) | 1.38 | | | | * Bethlem myopathy | | * Ullrich congenital muscular dystrophy - UCMD1 | | * LGMDR22 | | * LGMDD5 |
|
| Muscular dystrophy, limb-girdle, autosomal recessive 22 - (AR) | 1.39 | | | | * myosclerosis, autosomal recessive | | * LGMDR22 | | * LGMDD5 | | * Bethlem myopathy | | * Ullrich scleroatonic muscular dystrophy - UCMD1 |
|
| Muscular dystrophy, limb-girdle, autosomal recessive 22 - (AR) | 1.40 | | | | * LGMDR22 | | * LGMDD5 | | * Bethlem myopathy | | * Ullrich congenital muscular dystrophy - UCMD1 |
|
| Muscular dystrophy, limb-girdle, autosomal recessive 23 - (AR) | 1.41 | | | Laminin alpha 2 chain of merosin
|
|
| | * Muscular dystrophy, congenital merosin-deficient - MDC1A | | * LGMDR23 |
|
| Muscular dystrophy, limb-girdle, autosomal recessive 25 - (AR) | 1.42 | | | Blood vessel epicardial substance
|
|
| | * Limb-Girdle, Muscular dystrophy, type 2X - LGMD2X |
|
| Muscular dystrophy, limb-girdle, autosomal recessive 26 - (AR) | 1.43 | | | Popeye domain-containing protein 3
|
|
| | * LGMDR26 - LGMDR26 |
|
| Muscular dystrophy, limb-girdle, autosomal recessive 27 - (AR) | 1.44 | | | | * Muscular dystrophy, LGMDR27 - LGMDR27 |
|
| Muscular dystrophy; limb-girdle, autosomal recessive 28 - (AR) | 1.45 | | | 3-Hydroxy-3-methylglutaryl-CoA reductase
|
|
| | * Muscular dystrophy; limb-girdle, autosomal recessive 28 - LGMDR28 |
|
| Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C1 - (AR) | 1.46 | | | Protein-O-mannosyltransferase 1
|
|
| | * Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA1 | | * Muscular dystrophy, Limb-Girdle, type 2K - LGMD2K | | * Muscular dystrophy-dystrooglycanopathy (congenital with mental retardation), type B1 - MDDGB1 | | * Walker-Warburg syndrome - WWS |
|
| Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C2 - (AR) | 1.47 | | | Protein-O-mannosyltransferase 2
|
|
| | * Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA2 | | * Walker-Warburg syndrome - WWS | | * Limb-girdle, muscular dystrophy, type 2n - LGMD2N | | * Muscle-eye-brain disease - MEB |
|
| Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C3 - (AR) | 1.48 | | | O-linked mannose beta1,2-N-acetylglucosaminyltransferase
|
|
| | * Limb-girdle, muscular dystrophy, type 2o - LGMD2O | | * Muscular dystrophy, limb-girdle, autosomal recessive 15 - LGMDR15 | | * Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB3 | | * Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA3 |
|
| Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C4 - (AR) | 1.49 | | | 3-Hydroxy-3-methylglutaryl-CoA reductase
|
|
| | * Muscular dystrophy; limb-girdle, autosomal recessive 28 - LGMDR28 |
|
| Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C5 - (AR) | 1.50 | | | | * Walker-Warburg syndrome - WWS | | * Muscle-eye-brain disease - MEB | | * Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA5 | | * Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda - MDDGB5 | | * Muscular dystrophy, limb-girdle, type 2I - LGMD2I |
|
| Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C7 - (AR) | 1.51 | | | Isoprenoid synthase domain containing protein
|
|
| | * LGMDR20 - LGMDR20 | | * Walker-Warburg syndrome (WWS) - MDDGA7 |
|
| Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C8 - (AR) | 1.52 | | | protein O-linked mannose N-acetylglucosaminyltransferase 2
|
|
| | * Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, - MDDGA8 | | * Walker-Warburg syndrome - WWS | | * LGMDR24 |
|
| Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C9 - (AR) | 1.53 | | | | * Muscular dystrophy-dystroglycanopathy (limb-girdle) - MDDGC9 | | * Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 - MDDGA9 |
|
| Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C12 - (AR) | 1.54 | | | | * Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 - MDDGA12 | | * Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C12 - MDDGC12 |
|
| Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C14 - (AR) | 1.55 | | | GDP-mannose pyrophosphorylase B
|
|
| | * Muscle-eye-brain disease - MDDGA14 | | * Limb-Girdle, Muscular dystrophy, type 2T - MDDGC14 | | * Congenital Myasthenic syndrome related to GMPPB |
|
| Muscular dystrophy-dystroglycanopathy (Limb-gidle), type C15 - (AR) | 1.56 | | | Dolichyl-phosphate mannosyltransferase polypeptide 3
|
|
| | * Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B15 - MDDGB15 | | * Muscle dystrophy with congenital disorder of glycosylation, type Io - CDG1O |
|
| Muscular dystrophy with cardiomyopathy and triangular tongue - (AR) | 1.57 | | | LIM and senescent cell antigen-like domains 2
|
|
| | * Limb-Girdle, Muscular dystrophy, type 2W - LGMD2W |
|
| Scapuloperoneal muscular dystrophy and dropped head syndrome - (AR) | 1.58 | | | Valosin-containing protein
|
|
| | * Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 - IBMPFD1 | | * Inclusion body myopathy with early-onset paget disease and frontotemporal dement - IBMPFD | | * Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia - ALS14 | | * Scapuloperoneal muscular dystrophy and dropped head syndrome | | * Charcot-Marie-Tooth neuropathy Type 2Y - CMT2Y |
|
| LGMD with ophtalmoplegia | 1.59 | | | | * Limb-girdle, muscular dystrophy, type 2q - LGMD2Q | | * Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS | | * Myasthenic syndrome, with plectin defect | | * Limb girdle muscular dystrophy with ophthalmoplegia |
|
| LGMD related to PYROXD1 - (AR) | 1.60 | | | Pyridine nucleotidedisulphide oxidoreductase domain 1
|
|
| | * Early-onset myofibrillar myopathy with PYRODX1 defect | | * LGMD related to PYROXD1 | | * Congenital Myopathy related to PYROXD1 |
|
| LGMD related to DTNA - (AD) | 1.61 | | | |
