Gene product table



Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
DDB1 and CUL4 associated factor 8
DCAF8 (1q23.2)

* Giant axonal neuropathy 2 - GAN2 (14.133)
DDHD domain containing 1
DDHD1 (14q21)


* Spastic paraplegia 20 - SPG28 (15.41)
DDHD domain containing protein 2
DDHD2 (8p11.23)


* Spastic paraplegia 54, autosomal recessive - SPG54 (15.57)
Dehydrogenase E1 and transketolase domain containing 1(M)
DHTKD1 (10p14)


* Charcot-Marie-Tooth neuropathy Type 2Q - CMT2Q (14.69)
Delta-sarcoglycan
SGCD (5q33-q34)


* Muscular dystrophy, limb-girdle, type 2F - LGMD2F (1.30, 10.50)
* Dilated Cardiomyopathy, 1L - CMD1L (1.30, 10.50)
Deoxyguanosine kinase(M)
DGUOK (2p13.1)


* Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) - MTDPS3 (16.43, 16.47)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 - PEOB4 (16.43, 16.47)
Desmin
DES (2q35)


* Myopathy, cardiomyopathy and congenital myasthenic syndrome - (5.1, 5.15, 10.135, 10.47, 11.44)
* Desmin-related myopathy - DRM (5.1, 5.15, 5.15, 10.135, 10.47, 11.44)
* Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy - ARVD7 (5.1, 5.1, 5.15, 5.15, 10.135, 10.47, 11.44)
* Myofibrillar myopathy 1 - MFM1 (5.1, 5.1, 5.15, 5.15, 10.135, 10.47, 11.44)
* Limb girdle muscular dystrophy 1E (autosomal dominant) - LGMD1E (5.1, 5.1, 5.15, 5.15, 10.135, 10.47, 11.44)
* Dilated cardiomyopathy, 1I - CMD1I (5.1, 5.1, 5.15, 5.15, 10.135, 10.47, 11.44)
* Limb-Girdle, Muscular dystrophy, type 2R - LGMD2R (5.1, 5.1, 5.15, 5.15, 10.135, 10.47, 11.44)
Desmocollin 2
DSC2 (18q12.1)


* Arrhythmogenic right ventricular dysplasia, 11 - ARVD11 (10.124)
Desmoglein 2
DSG2 (18q12.1)


* Arrhythmogenic right ventricular dysplasia, 10 - ARVD10 (10.123, 10.66)
* Dilated cardiomyopathy, related to DSG2 - CMD1BB (10.123, 10.66)
Desmoplakin
DSP (6p24.3)


* Arrhythmogenic right ventricular dysplasia, 8 - ARVD8 (10.121)
DexH-box helicase 9
DHX9 (1q25.3)


* Charcot-Marie-Tooth disease, axonal, related to DHX9 - CMT2 (14.86)
Diacylglycerol O-acyltransferase 2
DGAT2 (1q13.3)


* Early onset axonal neuropathy with sensory ataxia - (14.81)
DNA (cytosine-5)-methyltransferase 1
DNMT1 (19p13.2)


* Hereditary sensory neuropathy with dementia and hearing loss - (14.119)
* Neuropathy, hereditary sensory, type 1E - HSN1E (14.119)
DNA replication helicase 2(M)
DNA2 (10q21.3)


* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 - PEOA6 (16.39)
DNA topoisomerase III
TOP3A (17p11.2)


* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 - PEOB5 (16.44)
DnaJ (Hsp40) homolog, subfamily B, member 2
DNAJB2 (2q32-q34)


* Spinal muscular atrophy, distal related to DNAJB2 - (12.17, 14.91)
* Autosomal recessive CMT2 related to DNAJB2 - (12.17, 14.91)
* Spinal muscular atrophy, distal, autosomal recessive, 5 - DSMA5 (12.17, 14.91)
DNAJ/HSP40 homolog, subfamily B, member 4
DNAJB4 (1p31.1)


* Myopathy with early respiratory failure - (5.16)
Docking protein 7
DOK7 (4p16.2)


* Familial limb-girdle myasthenia related to DOK7 - CMS1B (11.18, 16.28)
* Myasthenic syndrome, congenital, 10 - CMS10 (11.18, 16.28)
* Fetal akinesia deformation sequence 3 - FADS3 (11.18, 16.28)
Dolichol kinase
DOLK (9q34.13)


* Dilated Cardiomyopathy related to DOLK - CDG1M (10.95)
Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransfera
DPAGT1 (11q23.3)


* 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
DPM1 (20q13.13)


* Congenital muscular dystrophy with hypoglycosylation of dystroglycan - CDG1E (2.41)
Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DPM2 (9q34.13)


* Muscle dystrophy with congenital disorder of glycosylation - (2.43)
* Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se - (2.43)
Dolichyl-phosphate mannosyltransferase polypeptide 3
DPM3 (1q22)


* Muscle dystrophy with congenital disorder of glycosylation, type Io - CDG1O (1.56, 2.39)
* Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B15 - MDDGB15 (1.56, 2.39)
Double homeobox 4
DUX4 (4q35)


* Muscular dystrophy, facioscapulohumeral, type 1A - FSHD1A (1.10)
Dynactin 1
DCTN1 (2p13)


* Susceptibility to amyotrophic lateral sclerosis related to dynactin 1 - (12.37, 12.80)
* Neuronopathy, distal hereditary motor, autosomal dominant 14 - HMND14 (12.37, 12.80)
Dynamin 2
DNM2 (19p13.2)


* Myopathy centronuclear, 1 - CNM1 (2.15, 3.19, 4.20, 12.91, 14.16)
* Charcot-Marie-Tooth disease, dominant intermediate B - CMTDIB (2.15, 3.19, 4.20, 12.91, 14.16)
* Lethal Congenital Contracture Syndrome 5 - LCCS5 (2.15, 3.19, 4.20, 12.91, 14.16)
Dynein, cytoplasmic 1, heavy chain 1
DYNC1H1 (14q32.31)


* Spinal muscular atrophy, lower extremity, autosomal dominant - SMALED (12.40, 14.67)
* Charcot-Marie-Tooth disease, axonal, type 20 - CMT2O (12.40, 14.67)
Dysferlin
DYSF (2p12-14)


* Muscular dystrophy, limb-girdle, type 2B - LGMD2B (1.26, 4.1)
* Miyoshi myopathy - MM (1.26, 4.1)
Dystonin
DST (6p12.1)


* Hereditary sensory and autonomic neuropathy type VI - HSAN6 (14.115)
Dystrobrevin, alpha
DTNA (18q12)


* LGMD related to DTNA - (1.61, 10.104)
Dystroglycan1
DAG1 (3p21)


* Muscular dystrophy-dystroglycanopathy (limb-girdle) - MDDGC9 (1.53, 2.26)
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 - MDDGA9 (1.53, 2.26)
Dystrophin
DMD (Xp21.2)


* Becker muscular distrophy - BMD (1.1, 10.92)
* Cardiomyopathy, dilated, X-linked - XLCM (1.1, 10.92)
* Cardiomyopathy, Dilated, 3B - CMD3B (1.1, 10.92)
* Duchenne muscular dystrophy - DMD (1.1, 10.92)
Dystrophin-related protein 2
DRP2 (Xq22.1)


* Charcot-Marie-Tooth disease, X-linked recessive related to DRP2 - (14.49)