Gene table



Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols

DAG1
Dystroglycan1



3p21
* Muscular dystrophy-dystroglycanopathy (limb-girdle) - MDDGC9 (1.40, 2.38)
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 - MDDGA9 (1.40, 2.38)

DCAF8
DDB1 and CUL4 associated factor 8



1q23.2
* Giant axonal neuropathy 2 - GAN2 (14.120)

DCTN1
Dynactin 1



2p13
* Neuronopathy, distal hereditary motor, type VIIB - HMN7B (12.71)
* Susceptibility to amyotrophic lateral sclerosis related to dynactin 1 - (12.71)

DDHD1
DDHD domain containing 1



14q21
* Spastic paraplegia 20 - SPG28 (15.37)

DDHD2
DDHD domain containing protein 2



8p11.23
* Spastic paraplegia 54, autosomal recessive - SPG54 (15.53)

DES
Desmin



2q35
* Desmin-related myopathy - DRM (1.23, 1.53, 5.1, 5.14, 10.121, 10.44)
* Limb-Girdle, Muscular dystrophy, type 2R - LGMD2R (1.23, 1.53, 5.1, 5.14, 10.121, 10.44)
* Dilated cardiomyopathy, 1I - CMD1I (1.23, 1.53, 5.1, 5.14, 10.121, 10.44)
* Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy - ARVD7 (1.23, 1.53, 5.1, 5.14, 10.121, 10.44)
* Myofibrillar myopathy 1 - MFM1 (1.23, 1.53, 5.1, 5.14, 10.121, 10.44)
* Limb girdle muscular dystrophy 1E (autosomal dominant) - LGMD1E (1.23, 1.53, 5.1, 5.14, 10.121, 10.44)

DGAT2
Diacylglycerol O-acyltransferase 2



1q13.3
* Early onset axonal neuropathy with sensory ataxia - (14.72)

DGUOK
Deoxyguanosine 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)

DHTKD1
Dehydrogenase E1 and transketolase domain containing 1



10p14
* Charcot-Marie-Tooth neuropathy Type 2Q - CMT2Q (14.61)

DMD
Dystrophin



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)

DMPK
Myotonic dystrophy protein kinase



19q13.3
* Myotonic dystrophy 1 - DM1 (6.1)
* Dystrophia myotonica - DM (6.1)
* Steinert disease - DM1 (6.1)

DNA2
DNA replication helicase 2(M)



10q21.3
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 - PEOA6 (16.38)

DNAJB2
DnaJ (Hsp40) homolog, subfamily B, member 2



2q32-q34
* Spinal muscular atrophy, distal related to DNAJB2 - (12.9, 14.79)
* Spinal muscular atrophy, distal, autosomal recessive, 5 - DSMA5 (12.9, 14.79)
* Autosomal recessive CMT2 related to DNAJB2 - (12.9, 14.79)

DNAJB6
HSP-40 homologue, subfamily B, number 6



7q36
* LGMDD1 - (1.13, 4.22, 4.23)

DNM2
Dynamin 2



19p13.2
* Charcot-Marie-Tooth disease, dominant intermediate B - CMTDIB (2.15, 3.22, 4.16, 12.80, 14.14)
* Myopathy centronuclear, 1 - CNM1 (2.15, 3.22, 4.16, 12.80, 14.14)
* Lethal Congenital Contracture Syndrome 5 - LCCS5 (2.15, 3.22, 4.16, 12.80, 14.14)

DNMT1
DNA (cytosine-5)-methyltransferase 1



19p13.2
* Neuropathy, hereditary sensory, type 1E - HSN1E (14.107)
* Hereditary sensory neuropathy with dementia and hearing loss - (14.107)

DOK7
Docking protein 7



4p16.2
* Familial limb-girdle myasthenia related to DOK7 - CMS1B (11.16, 16.27)
* Fetal akinesia deformation sequence 3 - FADS3 (11.16, 16.27)

DOLK
Dolichol kinase



9q34.13
* Dilated Cardiomyopathy related to DOLK - CDG1M (10.84)

DPAGT1
Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)



11q23.3
* Familial imb-girdle myasthenia with tubular aggregates related to DPAGT1 - CMSTA2 (11.19)

DPM1
Dolichyl-phosphate mannosyltransferase 1, catalytic subunit



20q13.13
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan - CDG1E (2.35)

DPM2
Dolichyl-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)

DPM3
Dolichyl-phosphate mannosyltransferase polypeptide 3



1q22
* Muscle dystrophy with congenital disorder of glycosylation, type Io - CDG1O (1.56)

DSC2
Desmocollin 2



18q12.1
* Arrhythmogenic right ventricular dysplasia, 11 - ARVD11 (10.112)

DSG2
Desmoglein 2



18q12.1
* Arrhythmogenic right ventricular dysplasia, 10 - ARVD10 (10.111, 10.63)
* Dilated cardiomyopathy, related to DSG2 - CMD1BB (10.111, 10.63)

DSP
Desmoplakin



6p24.3
* Arrhythmogenic right ventricular dysplasia, 8 - ARVD8 (10.109)

DST
Dystonin



6p12.1
* Hereditary sensory and autonomic neuropathy type VI - HSAN6 (14.103)

DTNA
Dystrobrevin, alpha



18q12
* Left ventricular noncompaction, familial isolated - LVNC (10.92)
* Left ventricular noncompaction with congenital heart defects - (10.92)

DUX4
Double homeobox 4



4q35
* Muscular dystrophy, facioscapulohumeral, type 1A - FSHD1A (1.10)

DYNC1H1
Dynein, 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)

DYSF
Dysferlin



2p12-14
* Miyoshi myopathy - MM (1.26, 4.1)
* Muscular dystrophy, limb-girdle, type 2B - LGMD2B (1.26, 4.1)
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