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 (10.47)
601316
EYA4 (6q23-24)
Eyes absent 4



Dejerine-Sottas neuropathy, autosomal recessive (14.30, 14.46)
145900
PRX (19q13)
Periaxin



Dejerine-Sottas syndrome (14.2, 14.44, 14.55, 14.56, 14.29, 14.17)
145900
MPZ (1q22)
Myelin protein zero



Dejerine-Sottas syndrome (14.4, 14.28, 14.45)
145900
EGR2 (10q21.1)
Early growth response 2 protein



Dejerine-Sottas Syndrome (14.1, 14.43, 14.5, 14.6)
145900
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



Desmin-related myopathy (5.1, 10.46, 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 (2.47)
620240
GOLGA2 (9q34.113)
Golgin A2



Dilated cardiomyopathy realted to GATAD1 (10.82)
GATAD1 (7q21-q22)
GATA zinc finger domain containing 1



Dilated cardiomyopathy related to alpha-crystallin (5.2, 10.72, 14.78)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



Dilated cardiomyopathy related to BAG3 (5.7, 10.71, 14.75)
613881
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



Dilated cardiomyopathy related to cardiac ankyrin repeat protein (10.80, 10.22)
ANKRD1 (10q23.31)
Ankyrin repeat domain 1 (cardiac muscle)



Dilated Cardiomyopathy related to DOLK (10.94)
610768
DOLK (9q34.13)
Dolichol kinase



Dilated cardiomyopathy related to integrin-linked kinase (10.79)
602366
ILK (11p15.5-p15.4)
Integrin-linked kinase



Dilated cardiomyopathy related to laminin-alpha4 (10.73)
600133
LAMA4 (6q21)
Laminin alpha 4



Dilated cardiomyopathy related to MURC (10.93)
MURC (9q31.1)
Muscle-related coiled-coil protein



Dilated cardiomyopathy related to MYBPC3 (10.4, 3.40, 10.76, 10.113)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



Dilated cardiomyopathy related to nesprin-1 (1.5, 13.68, 17.23, 10.92)
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



Dilated cardiomyopathy related to PRDM16 (10.75, 10.111)
615373
PRDM16 (1p36.32)
PR Domain-Containing Protein 16



Dilated cardiomyopathy related to RAF1 (10.77)
615916
RAF1 (3p25.2)
V-Raf-1 Murine Leukemia Viral Oncogene Homolog 1



dilated cardiomyopathy, 1aa (10.64, 10.25, 3.48, 4.10)
612158
ACTN2 (1q42-q43)
Actinin alpha2



Dilated cardiomyopathy, 1F (601419
? - (6q23)
Dilated cardiomyopathy, 1I (5.1, 10.46, 5.15, 10.135, 11.44)
604765
DES (2q35)
Desmin



Dilated Cardiomyopathy, 1L (1.29, 10.49)
606685
SGCD (5q33-q34)
Delta-sarcoglycan



Dilated cardiomyopathy, 1N (10.51, 2.16, 10.27)
TCAP (17q12)
Telethonin



Dilated cardiomyopathy, 1OO (10.78)
620247
VEZF1 (17q22)
Vascular endothelial zing finger 1



Dilated cardiomyopathy, 2C (10.83)
618189
PPCS (1p34.2)
Phosphopantothenosylcystein synthetase



Dilated cardiomyopathy, 2D (10.84)
619371
RPL3L (16p13.3)
Ribosomal protein L3-like



Dilated cardiomyopathy, 2E (10.18, 10.85)
619492
JPH2 (20q13.12)
Junctophilin-2



Dilated cardiomyopathy, 2F (10.86)
619747
BAG5 (14q32.33)
Bag cochaperone



Dilated cardiomyopathy, 2G (10.87)
619897
LMOD2 (7q31.32)
Leiomodin 2



Dilated cardiomyopathy, 2H (10.89)
620203
FLII (17p11.2)
FLII actin remodeling protein



Dilated cardiomyopathy, 2I (10.88)
620462
CAP2 (6p22.3)
Cyclase associated actin cytoskeltin regulatory protein 2



Dilated cardiomyopathy, related to DSG2 (10.123, 10.65)
612877
DSG2 (18q12.1)
Desmoglein 2



Distal hereditary motor neuropathies (14.14, 12.47)
GBF1 (10q24.32)
Golgi-specific brefeldin-A resistance factor 1



Distal motor neuropathy (12.33, 15.80)
SPTAN1 (9q34.11)
Spectrin, alpha, nonerythrocytic 1



Distal motor neuropathy related to SYT2 (11.14, 12.46, 11.15)
SYT2 (1q32.1)
Synaptotagmin II



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



Distal myopathy with nebulin defect (3.5, 4.17, 4.18)
NEB (2q22)
Nebulin



Distal myopathy, late-onset (12.63, 4.29)
TARDBP (1p36.2)
TAR DNA binding protein



Distal Spinal Muscular Atrophy with Calf Predominance (12.28)
615575
FBXO38 (5q32)
F-box protein 38



Distal spinal muscular atrophy, type VB (15.13, 12.34, 12.10)
614751
REEP1 (2p11.2)
Receptor accessory protein 1 (M)



Duchenne muscular dystrophy (1.1, 10.91)
310200
DMD (Xp21.2)
Dystrophin



Dusty core disease related to RYR1 (8.1, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64)
180901
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



Dysmyelinating leukodystrophy (15.41)
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