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 (14.102)
DDHD domain containing 1
DDHD1 (14q21)


* Spastic paraplegia 20 - SPG28 (15.33)
DDHD domain containing 2
DDHD2 (8p11.23)


* Spastic paraplegia 54, autosomal recessive - SPG54 (15.49)
dehydrogenase E1 and transketolase domain containing 1
DHTKD1 (10p14)


* Charcot-Marie-Tooth neuropathy Type 2Q - CMT2Q (14.57)
Delta-1-pyrroline-5-carboxylate synthase(M)
ALDH18A1 (10q24.1)


* Spastic paraplegia 9 - SPG9 (15.5, 15.21)
* Spastic paraplegia 9A, autosomal recessive - SPG9A (15.5, 15.21)
Delta-sarcoglycan
SGCD (5q33-q34)


* Muscular dystrophy, limb-girdle, type 2F - LGMD2F (1.26, 10.44)
* Dilated Cardiomyopathy, 1L - CMD1L (1.26, 10.44)
Desmin
DES (2q35)


* Desmin-related myopathy - DRM (1.17, 1.38, 5.2, 10.41)
* Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy - ARVD7 (1.17, 1.38, 5.2, 10.41)
* Limb girdle muscular dystrophy 1E (autosomal dominant) - LGMD1E (1.17, 1.38, 5.2, 10.41)
* Dilated cardiomyopathy, 1I - CMD1I (1.17, 1.38, 5.2, 10.41)
* Limb-Girdle, Muscular dystrophy, type 2R - LGMD2R (1.17, 1.38, 5.2, 10.41)
Desmocollin 2
DSC2 (18q12.1)


* Arrhythmogenic right ventricular dysplasia, 11 - ARVD11 (10.95)
Desmoglein 2
DSG2 (18q12.1)


* Arrhythmogenic right ventricular dysplasia, 10 - ARVD10 (10.59, 10.94)
* Dilated cardiomyopathy, related to DSG2 - CMD1BB (10.59, 10.94)
Desmoplakin
DSP (6p24)


* Arrhythmogenic right ventricular dysplasia, 8 - ARVD8 (10.92)
diacylglycerol O-acyltransferase 2
DGAT2 (1q13.3)


* Early onset axonal neuropathy with sensory ataxia - (14.65)
DNA (cytosine-5)-methyltransferase 1
DNMT1 (19p13.2)


* Hereditary sensory neuropathy with dementia and hearing loss - (14.97)
* Neuropathy, hereditary sensory, type 1E - HSN1E (14.97)
DnaJ (Hsp40) homolog, subfamily B, member 2
DNAJB2 (2q32-q34)


* Spinal muscular atrophy, distal related to DNAJB2 - (12.9, 14.70)
* Autosomal recessive CMT2 related to DNAJB2 - (12.9, 14.70)
* Spinal muscular atrophy, distal, autosomal recessive, 5 - DSMA5 (12.9, 14.70)
Docking protein 7
DOK7 (4p16.2)


* Familial limb-girdle myasthenia related to DOK7 - CMS1B (11.16)
Dolichol kinase
DOLK (9q34.13)


* Dilated Cardiomyopathy related to DOLK - CDG1M (10.79)
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 (2.34)
Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DPM2 (9q34.13)


* Muscle dystrophy with congenital disorder of glycosylation - (2.35)
* Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se - (2.35)
Dolichyl-phosphate mannosyltransferase polypeptide 3
DPM3 (1q22)


* Muscle dystrophy with congenital disorder of glycosylation, type Io - CDG1O (1.47)
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 - (12.25, 12.63)
* Neuronopathy, distal hereditary motor, type VIIB - HMN7B (12.25, 12.63)
Dynamin 2
DNM2 (19p13.2)


* centronuclear myopathy, dominant - CNM (2.16, 3.18, 4.14, 14.13)
Dynein, cytoplasmic 1, heavy chain 1
DYNC1H1 (14q32.31)


* Spinal muscular atrophy, lower extremity, autosomal dominant - SMALED (12.30, 14.55)
* Charcot-Marie-Tooth disease, axonal, type 20 - CMT2O (12.30, 14.55)
Dysferlin
DYSF (2p12-14)


* Muscular dystrophy, limb-girdle, type 2B - LGMD2B (1.22, 4.1)
* Miyoshi myopathy - MM (1.22, 4.1)
dystonin
DST (6p12.1)


* Hereditary sensory and autonomic neuropathy type VI - HSAN6 (14.93)
Dystrobrevin, alpha
DTNA (18q12)


* Left ventricular noncompaction, familial isolated - LVNC (10.84)
* Left ventricular noncompaction with congenital heart defects - (10.84)
Dystroglycan1
DAG1 (3p21)


* Muscular dystrophy-dystroglycanopathy (limb-girdle) - MDDGC9 (1.36, 2.37)
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 - MDDGA9 (1.36, 2.37)
Dystrophin
DMD (Xp21.2)


* Becker muscular distrophy - BMD (1.1, 10.76)
* Cardiomyopathy, dilated, X-linked - XLCM (1.1, 10.76)
* Cardiomyopathy, Dilated, 3B - CMD3B (1.1, 10.76)
* Duchenne muscular dystrophy - DMD (1.1, 10.76)