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 (14.120)
DDHD domain containing 1
DDHD1 (14q21)


* Spastic paraplegia 20 - SPG28 (15.37)
DDHD domain containing protein 2
DDHD2 (8p11.23)


* Spastic paraplegia 54, autosomal recessive - SPG54 (15.53)
Dehydrogenase E1 and transketolase domain containing 1
DHTKD1 (10p14)


* Charcot-Marie-Tooth neuropathy Type 2Q - CMT2Q (14.61)
Delta-sarcoglycan
SGCD (5q33-q34)


* Muscular dystrophy, limb-girdle, type 2F - LGMD2F (1.30, 10.47)
* Dilated Cardiomyopathy, 1L - CMD1L (1.30, 10.47)
Deoxyguanosine kinase(M)
DGUOK (2p13.1)


* Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) - MTDPS3 (16.42, 16.46)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 - PEOB4 (16.42, 16.46)
Desmin
DES (2q35)


* Desmin-related myopathy - DRM (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)
* Dilated cardiomyopathy, 1I - CMD1I (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)
Desmocollin 2
DSC2 (18q12.1)


* Arrhythmogenic right ventricular dysplasia, 11 - ARVD11 (10.112)
Desmoglein 2
DSG2 (18q12.1)


* Arrhythmogenic right ventricular dysplasia, 10 - ARVD10 (10.111, 10.63)
* Dilated cardiomyopathy, related to DSG2 - CMD1BB (10.111, 10.63)
Desmoplakin
DSP (6p24.3)


* Arrhythmogenic right ventricular dysplasia, 8 - ARVD8 (10.109)
Diacylglycerol O-acyltransferase 2
DGAT2 (1q13.3)


* Early onset axonal neuropathy with sensory ataxia - (14.72)
DNA (cytosine-5)-methyltransferase 1
DNMT1 (19p13.2)


* Hereditary sensory neuropathy with dementia and hearing loss - (14.107)
* Neuropathy, hereditary sensory, type 1E - HSN1E (14.107)
DNA replication helicase 2(M)
DNA2 (10q21.3)


* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 - PEOA6 (16.38)
DNA topoisomerase III
TOP3A (17p11.2)


* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 - PEOB5 (16.43)
DnaJ (Hsp40) homolog, subfamily B, member 2
DNAJB2 (2q32-q34)


* Spinal muscular atrophy, distal related to DNAJB2 - (12.9, 14.79)
* Autosomal recessive CMT2 related to DNAJB2 - (12.9, 14.79)
* Spinal muscular atrophy, distal, autosomal recessive, 5 - DSMA5 (12.9, 14.79)
Docking protein 7
DOK7 (4p16.2)


* Familial limb-girdle myasthenia related to DOK7 - CMS1B (11.16, 16.27)
* Fetal akinesia deformation sequence 3 - FADS3 (11.16, 16.27)
Dolichol kinase
DOLK (9q34.13)


* Dilated Cardiomyopathy related to DOLK - CDG1M (10.84)
Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransfera
DPAGT1 (11q23.3)


* Familial imb-girdle myasthenia with tubular aggregates related to DPAGT1 - CMSTA2 (11.19)
Dolichyl-phosphate mannosyltransferase 1, catalytic subunit
DPM1 (20q13.13)


* Congenital muscular dystrophy with hypoglycosylation of dystroglycan - CDG1E (2.35)
Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DPM2 (9q34.13)


* Muscle dystrophy with congenital disorder of glycosylation - (2.37)
* Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se - (2.37)
Dolichyl-phosphate mannosyltransferase polypeptide 3
DPM3 (1q22)


* Muscle dystrophy with congenital disorder of glycosylation, type Io - CDG1O (1.56)
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 - (12.71)
* Neuronopathy, distal hereditary motor, type VIIB - HMN7B (12.71)
Dynamin 2
DNM2 (19p13.2)


* Myopathy centronuclear, 1 - CNM1 (2.15, 3.22, 4.16, 12.80, 14.14)
* Charcot-Marie-Tooth disease, dominant intermediate B - CMTDIB (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)
Dynein, cytoplasmic 1, heavy chain 1
DYNC1H1 (14q32.31)


* Spinal muscular atrophy, lower extremity, autosomal dominant - SMALED (12.32, 14.59)
* Charcot-Marie-Tooth disease, axonal, type 20 - CMT2O (12.32, 14.59)
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 (14.103)
Dystrobrevin, alpha
DTNA (18q12)


* Left ventricular noncompaction, familial isolated - LVNC (10.92)
* Left ventricular noncompaction with congenital heart defects - (10.92)
Dystroglycan1
DAG1 (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)
Dystrophin
DMD (Xp21.2)


* Becker muscular distrophy - BMD (1.1, 10.81)
* Cardiomyopathy, dilated, X-linked - XLCM (1.1, 10.81)
* Cardiomyopathy, Dilated, 3B - CMD3B (1.1, 10.81)
* Duchenne muscular dystrophy - DMD (1.1, 10.81)