Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
| 3p21 | * Muscular dystrophy-dystroglycanopathy (limb-girdle) - MDDGC9 (1.45, 2.38)
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 - MDDGA9 (1.45, 2.38)
|
DCAF8DDB1 and CUL4 associated factor 8    | 1q23.2 | * Giant axonal neuropathy 2 - GAN2 (14.124)
|
| 2p13 | * Neuronopathy, distal hereditary motor, type VIIB - HMN7B (12.71)
* Susceptibility to amyotrophic lateral sclerosis related to dynactin 1 - (12.71)
|
DDHD1DDHD domain containing 1     | 14q21 | * Spastic paraplegia 20 - SPG28 (15.37)
|
DDHD2DDHD domain containing protein 2      | 8p11.23 | * Spastic paraplegia 54, autosomal recessive - SPG54 (15.53)
|
| 2q35 | * Desmin-related myopathy - DRM (1.28, 1.58, 5.1, 5.14, 10.121, 10.44)
* Limb-Girdle, Muscular dystrophy, type 2R - LGMD2R (1.28, 1.58, 5.1, 5.14, 10.121, 10.44)
* Dilated cardiomyopathy, 1I - CMD1I (1.28, 1.58, 5.1, 5.14, 10.121, 10.44)
* Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy - ARVD7 (1.28, 1.58, 5.1, 5.14, 10.121, 10.44)
* Myofibrillar myopathy 1 - MFM1 (1.28, 1.58, 5.1, 5.14, 10.121, 10.44)
* Limb girdle muscular dystrophy 1E (autosomal dominant) - LGMD1E (1.28, 1.58, 5.1, 5.14, 10.121, 10.44)
|
DGAT2Diacylglycerol O-acyltransferase 2     | 1q13.3 | * Early onset axonal neuropathy with sensory ataxia - (14.73)
|
DGUOKDeoxyguanosine kinase(M)     | 2p13.1 | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 - PEOB4 (16.42, 16.46)
* Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) - MTDPS3 (16.42, 16.46)
|
DHTKD1Dehydrogenase E1 and transketolase domain containing 1(M)     | 10p14 | * Charcot-Marie-Tooth neuropathy Type 2Q - CMT2Q (14.61)
|
| Xp21.2 | * Duchenne muscular dystrophy - DMD (1.1, 10.81)
* Becker muscular distrophy - BMD (1.1, 10.81)
* Cardiomyopathy, Dilated, 3B - CMD3B (1.1, 10.81)
* Cardiomyopathy, dilated, X-linked - XLCM (1.1, 10.81)
|
DMPKMyotonic dystrophy protein kinase     | 19q13.3 | * Myotonic dystrophy 1 - DM1 (6.1)
* Dystrophia myotonica - DM (6.1)
* Steinert disease - DM1 (6.1)
|
DNA2DNA replication helicase 2(M)     | 10q21.3 | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 - PEOA6 (16.38)
|
DNAJB2DnaJ (Hsp40) homolog, subfamily B, member 2     | 2q32-q34 | * Spinal muscular atrophy, distal related to DNAJB2 - (12.9, 14.80)
* Spinal muscular atrophy, distal, autosomal recessive, 5 - DSMA5 (12.9, 14.80) * Autosomal recessive CMT2 related to DNAJB2 - (12.9, 14.80)
|
DNAJB6HSP-40 homologue, subfamily B, number 6     | 7q36 | * LGMDD1 - (1.18, 4.22, 4.23)
|
| 19p13.2 | * Charcot-Marie-Tooth disease, dominant intermediate B - CMTDIB (2.15, 3.23, 4.16, 12.82, 14.14)
* Myopathy centronuclear, 1 - CNM1 (2.15, 3.23, 4.16, 12.82, 14.14)
* Lethal Congenital Contracture Syndrome 5 - LCCS5 (2.15, 3.23, 4.16, 12.82, 14.14)
|
DNMT1DNA (cytosine-5)-methyltransferase 1     | 19p13.2 | * Neuropathy, hereditary sensory, type 1E - HSN1E (14.110) * Hereditary sensory neuropathy with dementia and hearing loss - (14.110)
|
| 4p16.2 | * Familial limb-girdle myasthenia related to DOK7 - CMS1B (11.18, 16.27)
* Fetal akinesia deformation sequence 3 - FADS3 (11.18, 16.27)
|
| 9q34.13 | * Dilated Cardiomyopathy related to DOLK - CDG1M (10.84)
|
DPAGT1Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)     | 11q23.3 | * Familial imb-girdle myasthenia with tubular aggregates related to DPAGT1 - CMSTA2 (11.21)
|
DPM1Dolichyl-phosphate mannosyltransferase 1, catalytic subunit     | 20q13.13 | * Congenital muscular dystrophy with hypoglycosylation of dystroglycan - CDG1E (2.35)
|
DPM2Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit     | 9q34.13 | * Muscle dystrophy with congenital disorder of glycosylation - (2.37) * Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se - (2.37)
|
DPM3Dolichyl-phosphate mannosyltransferase polypeptide 3     | 1q22 | * Muscle dystrophy with congenital disorder of glycosylation, type Io - CDG1O (1.61)
|
| 18q12.1 | * Arrhythmogenic right ventricular dysplasia, 11 - ARVD11 (10.112)
|
| 18q12.1 | * Arrhythmogenic right ventricular dysplasia, 10 - ARVD10 (10.111, 10.63)
* Dilated cardiomyopathy, related to DSG2 - CMD1BB (10.111, 10.63)
|
| 6p24.3 | * Arrhythmogenic right ventricular dysplasia, 8 - ARVD8 (10.109)
|
| 6p12.1 | * Hereditary sensory and autonomic neuropathy type VI - HSAN6 (14.106)
|
| 18q12 | * Left ventricular noncompaction, familial isolated - LVNC (10.92)
* Left ventricular noncompaction with congenital heart defects - (10.92)
|
| 4q35 | * Muscular dystrophy, facioscapulohumeral, type 1A - FSHD1A (1.10)
|
DYNC1H1Dynein, cytoplasmic 1, heavy chain 1     | 14q32.31 | * Charcot-Marie-Tooth disease, axonal, type 20 - CMT2O (12.32, 14.59)
* Spinal muscular atrophy, lower extremity, autosomal dominant - SMALED (12.32, 14.59)
|
| 2p12-14 | * Miyoshi myopathy - MM (1.31, 4.1)
* Muscular dystrophy, limb-girdle, type 2B - LGMD2B (1.31, 4.1)
|