Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
DDB1 and CUL4 associated factor 8 | | * Giant axonal neuropathy 2 - GAN2 (14.130)
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DDHD domain containing 1 | | * Spastic paraplegia 20 - SPG28 (15.38)
| DDHD domain containing protein 2 | | * Spastic paraplegia 54, autosomal recessive - SPG54 (15.54)
| Dehydrogenase E1 and transketolase domain containing 1(M) | | * Charcot-Marie-Tooth neuropathy Type 2Q - CMT2Q (14.62)
| Delta-sarcoglycan | | * Muscular dystrophy, limb-girdle, type 2F - LGMD2F (1.29, 10.49)
* Dilated Cardiomyopathy, 1L - CMD1L (1.29, 10.49)
| Deoxyguanosine kinase(M) | | * Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) - MTDPS3 (16.10, 16.14)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 - PEOB4 (16.10, 16.14)
| Desmin | | * Myopathy, cardiomyopathy and congenital myasthenic syndrome - (5.1, 5.15, 10.135, 10.46, 11.44)
* Desmin-related myopathy - DRM (5.1, 5.15, 10.135, 10.46, 11.44)
* Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy - ARVD7 (5.1, 5.15, 10.135, 10.46, 11.44)
* Myofibrillar myopathy 1 - MFM1 (5.1, 5.15, 10.135, 10.46, 11.44)
* Limb girdle muscular dystrophy 1E (autosomal dominant) - LGMD1E (5.1, 5.15, 10.135, 10.46, 11.44)
* Dilated cardiomyopathy, 1I - CMD1I (5.1, 5.15, 10.135, 10.46, 11.44)
* Limb-Girdle, Muscular dystrophy, type 2R - LGMD2R (5.1, 5.15, 10.135, 10.46, 11.44)
| Desmocollin 2 | | * Arrhythmogenic right ventricular dysplasia, 11 - ARVD11 (10.124)
| Desmoglein 2 | | * Arrhythmogenic right ventricular dysplasia, 10 - ARVD10 (10.123, 10.65)
* Dilated cardiomyopathy, related to DSG2 - CMD1BB (10.123, 10.65)
| Desmoplakin | | * Arrhythmogenic right ventricular dysplasia, 8 - ARVD8 (10.121)
| Diacylglycerol O-acyltransferase 2 | | * Early onset axonal neuropathy with sensory ataxia - (14.74)
| DNA (cytosine-5)-methyltransferase 1 | | * Hereditary sensory neuropathy with dementia and hearing loss - (14.116)
* Neuropathy, hereditary sensory, type 1E - HSN1E (14.116)
| DNA replication helicase 2(M) | | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 - PEOA6 (16.6)
| DNA topoisomerase III | | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 - PEOB5 (16.11)
| DnaJ (Hsp40) homolog, subfamily B, member 2 | | * Spinal muscular atrophy, distal related to DNAJB2 - (12.9, 14.84) * Autosomal recessive CMT2 related to DNAJB2 - (12.9, 14.84)
* Spinal muscular atrophy, distal, autosomal recessive, 5 - DSMA5 (12.9, 14.84)
| DNAJ/HSP40 homolog, subfamily B, member 4 | | * Myopathy with early respiratory failure - (5.16)
| Docking protein 7 | | * Familial limb-girdle myasthenia related to DOK7 - CMS1B (11.18, 17.29)
* Myasthenic syndrome, congenital, 10 - CMS10 (11.18, 17.29)
* Fetal akinesia deformation sequence 3 - FADS3 (11.18, 17.29)
| Dolichol kinase | | * Dilated Cardiomyopathy related to DOLK - CDG1M (10.94)
| Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransfera | | * Familial imb-girdle myasthenia with tubular aggregates related to DPAGT1 - CMSTA2 (11.21)
* Myasthenic syndrome, congenital, 13, with tubular aggregates - CMS13 (11.21)
| Dolichyl-phosphate mannosyltransferase 1, catalytic subunit | | * Congenital muscular dystrophy with hypoglycosylation of dystroglycan - CDG1E (9.13)
| Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit | | * Muscle dystrophy with congenital disorder of glycosylation - (9.16) * Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se - (9.16)
| Dolichyl-phosphate mannosyltransferase polypeptide 3 | | * Muscle dystrophy with congenital disorder of glycosylation, type Io - CDG1O (1.53, 2.40)
* Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B15 - MDDGB15 (1.53, 2.40)
| Double homeobox 4 | | * Muscular dystrophy, facioscapulohumeral, type 1A - FSHD1A (1.10)
| Dynactin 1 | | * Susceptibility to amyotrophic lateral sclerosis related to dynactin 1 - (12.36, 12.84)
* Neuronopathy, distal hereditary motor, autosomal dominant 14 - HMND14 (12.36, 12.84)
| Dynamin 2 | | * Myopathy centronuclear, 1 - CNM1 (2.15, 3.18, 4.20, 12.94, 14.15)
* Charcot-Marie-Tooth disease, dominant intermediate B - CMTDIB (2.15, 3.18, 4.20, 12.94, 14.15)
* Lethal Congenital Contracture Syndrome 5 - LCCS5 (2.15, 3.18, 4.20, 12.94, 14.15)
| Dynein, cytoplasmic 1, heavy chain 1 | | * Spinal muscular atrophy, lower extremity, autosomal dominant - SMALED (12.41, 14.60)
* Charcot-Marie-Tooth disease, axonal, type 20 - CMT2O (12.41, 14.60)
| Dysferlin | | * Muscular dystrophy, limb-girdle, type 2B - LGMD2B (1.25, 4.1)
* Miyoshi myopathy - MM (1.25, 4.1)
| Dystonin | | * Hereditary sensory and autonomic neuropathy type VI - HSAN6 (14.111)
| Dystrobrevin, alpha | | * LGMD related to DTNA - (10.104)
| Dystroglycan1 | | * Muscular dystrophy-dystroglycanopathy (limb-girdle) - MDDGC9 (1.50, 2.27)
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 - MDDGA9 (1.50, 2.27)
| Dystrophin | | * Becker muscular distrophy - BMD (1.1, 10.91)
* Cardiomyopathy, dilated, X-linked - XLCM (1.1, 10.91)
* Cardiomyopathy, Dilated, 3B - CMD3B (1.1, 10.91)
* Duchenne muscular dystrophy - DMD (1.1, 10.91)
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