Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Danon disease (5.18)
300257
LAMP2 (Xq24)
Lysosomal-associated membrane protein 2 precursor



Deafness, autosomal dominant nonsyndromic sensorineural 10 (10.48)
601316
EYA4 (6q23-24)
Eyes absent 4



Dejerine-Sottas neuropathy, autosomal recessive (14.36, 14.53)
145900
PRX (19q13)
Periaxin



Dejerine-Sottas syndrome (14.2, 14.51, 14.62, 14.63, 14.35, 14.18)
145900
MPZ (1q22)
Myelin protein zero



Dejerine-Sottas syndrome (14.4, 14.34, 14.52)
145900
EGR2 (10q21.1)
Early growth response 2 protein



Dejerine-Sottas Syndrome (14.1, 14.50, 14.5, 14.6)
145900
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



Desmin-related myopathy (5.1, 10.47, 5.15, 10.135, 11.44)
601419
DES (2q35)
Desmin



Desmin-related myopathy with Mallory bodies (2.13, 5.13, )
602771
SELENON (1p36.13)
Selenoprotein N1



Developmental delay with hypotonia, myopathy and brain abnormalities (2.46)
620240
GOLGA2 (9q34.113)
Golgin A2



Dilated cardiomyopathy realted to GATAD1 (10.83)
GATAD1 (7q21-q22)
GATA zinc finger domain containing 1



Dilated cardiomyopathy related to alpha-crystallin (5.2, 10.73, 14.85)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



Dilated cardiomyopathy related to BAG3 (5.7, 10.72, 14.82)
613881
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



Dilated cardiomyopathy related to cardiac ankyrin repeat protein (10.81, 10.22)
ANKRD1 (10q23.31)
Ankyrin repeat domain 1 (cardiac muscle)



Dilated Cardiomyopathy related to DOLK (10.95)
610768
DOLK (9q34.13)
Dolichol kinase



Dilated cardiomyopathy related to integrin-linked kinase (10.80)
602366
ILK (11p15.5-p15.4)
Integrin-linked kinase



Dilated cardiomyopathy related to laminin-alpha4 (10.74)
600133
LAMA4 (6q21)
Laminin alpha 4



Dilated cardiomyopathy related to MURC (10.94)
MURC (9q31.1)
Muscle-related coiled-coil protein



Dilated cardiomyopathy related to MYBPC3 (10.4, 3.53, 10.77, 10.113)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



Dilated cardiomyopathy related to nesprin-1 (1.5, 13.68, 16.23, 10.93)
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



Dilated cardiomyopathy related to PRDM16 (10.76, 10.111)
615373
PRDM16 (1p36.32)
PR Domain-Containing Protein 16



Dilated cardiomyopathy related to RAF1 (10.78)
615916
RAF1 (3p25.2)
V-Raf-1 Murine Leukemia Viral Oncogene Homolog 1



dilated cardiomyopathy, 1aa (10.65, 10.25, 3.34, 4.10)
612158
ACTN2 (1q42-q43)
Actinin alpha2



Dilated cardiomyopathy, 1F (601419
? - (6q23)
Dilated cardiomyopathy, 1I (5.1, 10.47, 5.15, 10.135, 11.44)
604765
DES (2q35)
Desmin



Dilated Cardiomyopathy, 1L (1.30, 10.50)
606685
SGCD (5q33-q34)
Delta-sarcoglycan



Dilated cardiomyopathy, 1N (1.31, 10.52, 2.16, 10.27)
TCAP (17q12)
Telethonin



Dilated cardiomyopathy, 1OO (10.79)
620247
VEZF1 (17q22)
Vascular endothelial zing finger 1



Dilated cardiomyopathy, 2C (10.84)
618189
PPCS (1p34.2)
Phosphopantothenosylcystein synthetase



Dilated cardiomyopathy, 2D (10.85)
619371
RPL3L (16p13.3)
Ribosomal protein L3-like



Dilated cardiomyopathy, 2E (10.18, 10.86)
619492
JPH2 (20q13.12)
Junctophilin-2



Dilated cardiomyopathy, 2F (10.87)
619747
BAG5 (14q32.33)
Bag cochaperone



Dilated cardiomyopathy, 2G (10.88)
619897
LMOD2 (7q31.32)
Leiomodin 2



Dilated cardiomyopathy, 2H (10.89)
620203
GET3 (19p13.13)
Guided entry of tail-anchored proteins factor 3, ATPase



Dilated cardiomyopathy, 2I (10.90)
620462
CAP2 (6p22.3)
Cyclase associated actin cytoskeltin regulatory protein 2



Dilated cardiomyopathy, related to DSG2 (10.123, 10.66)
612877
DSG2 (18q12.1)
Desmoglein 2



Distal hereditary motor neuropathies (14.15, 12.46)
GBF1 (10q24.32)
Golgi-specific brefeldin-A resistance factor 1



Distal motor neuropathy (12.34)
SPTAN1 (9q34.11)
Spectrin, alpha, nonerythrocytic 1



Distal motor neuropathy related to SYT2 (11.14, 12.45, 11.15)
SYT2 (1q32.1)
Synaptotagmin II



Distal Myopathy (4.26)
PLIN4 (19p13.3)
Perilipin 4



Distal myopathy with nebulin defect (3.6, 4.17, 4.18)
NEB (2q22)
Nebulin



Distal Spinal Muscular Atrophy with Calf Predominance (12.29)
615575
FBXO38 (5q32)
F-box protein 38



Distal spinal muscular atrophy, type VB (15.14, 12.35, 12.18)
614751
REEP1 (2p11.2)
Receptor accessory protein 1 (M)



Duchenne muscular dystrophy (1.1, 10.92)
310200
DMD (Xp21.2)
Dystrophin



Dusty core disease related to RYR1 (8.1, 3.27, 3.28, 3.24, 5.39, 3.26, 2.50, 16.31, 3.60)
180901
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



Dysmyelinating leukodystrophy (15.44)
612319
FA2H (16q21-q23.1)
Fatty acid 2-hydroxylase



Dyssegmental dysplasia, Silverman-Handmaker type (6.8)
224410
HSPG2 (1p36.1-p34)
Perlecan



Dystrophia myotonica (6.1)
160900
DMPK (19q13.3)
Myotonic dystrophy protein kinase