Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Danon disease (5.13)
300257
LAMP2 (Xq24)
Lysosomal-associated membrane protein 2 precursor



Deafness, autosomal dominant nonsyndromic sensorineural 10 (10.45)
601316
EYA4 (6q23-24)
Eyes absent 4



Dejerine-Sottas neuropathy (14.4, 14.25, 14.40)
145900
EGR2 (10q21.1)
Early growth response 2 protein



Dejerine-Sottas neuropathy, autosomal recessive (14.27, 14.41)
145900
PRX (19q13)
Periaxin



Dejerine-Sottas syndrome (14.2, 14.39, 14.50, 14.51, 14.26, 14.15)
145900
MPZ (1q22)
Myelin protein zero



Dejerine-Sottas Syndrome (14.1, 14.38, 14.5, 14.6)
145900
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



Desmin-related myopathy (5.1, 1.17, 10.44, 1.38, 5.12)
601419
DES (2q35)
Desmin



Desmin-related myopathy with Mallory bodies (2.13, 5.10, 3.15, 3.31)
602771
SELENON (1p36.13)
Selenoprotein N1



Dilated cardiomyopathy realted to GATAD1 (10.79)
GATAD1 (7q21-q22)
GATA zinc finger domain containing 1



Dilated cardiomyopathy related to alpha-crystallin (5.2, 10.70)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



Dilated cardiomyopathy related to BAG3 (5.7, 10.69, 14.67)
613881
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



Dilated cardiomyopathy related to cardiac ankyrin repeat protein (10.77, 10.22)
ANKRD1 (10q23.33)
Ankyrin repeat domain 1 (cardiac muscle)



Dilated Cardiomyopathy related to DOLK (10.84)
610768
DOLK (9q34.13)
Dolichol kinase



Dilated cardiomyopathy related to integrin-linked kinase (10.76)
602366
ILK (11p15.5-p15.4)
Integrin-linked kinase



Dilated cardiomyopathy related to laminin-alpha4 (10.71)
600133
LAMA4 (6q21)
Laminin alpha 4



Dilated cardiomyopathy related to MURC (10.83)
MURC (9q31.1)
Muscle-related coiled-coil protein



Dilated cardiomyopathy related to MYBPC3 (10.4, 3.43, 10.74, 10.101)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



Dilated cardiomyopathy related to nesprin-1 (1.6, 13.58, 16.19, 10.82)
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



Dilated cardiomyopathy related to PRDM16 (10.73, 10.99)
615373
PRDM16 (1p36.32)
PR Domain-Containing Protein 16



Dilated cardiomyopathy related to RAF1 (10.75)
615916
RAF1 (3p25.2)
V-Raf-1 Murine Leukemia Viral Oncogene Homolog 1



dilated cardiomyopathy, 1aa (10.62, 10.24)
612158
ACTN2 (1q42-q43)
Actinin alpha2



Dilated cardiomyopathy, 1F (601419
? - (6q23)
Dilated cardiomyopathy, 1I (5.1, 1.17, 10.44, 1.38, 5.12)
604765
DES (2q35)
Desmin



Dilated Cardiomyopathy, 1L (1.26, 10.47)
606685
SGCD (5q33-q34)
Delta-sarcoglycan



Dilated cardiomyopathy, 1N (1.27, 10.49, 2.16, 10.26)
TCAP (17q12)
Telethonin



Dilated cardiomyopathy, related to DSG2 (10.111, 10.63)
612877
DSG2 (18q12.1)
Desmoglein 2



Distal myopathy related to caveolin (1.15, 6.3, 5.21, 6.6, 4.11, 10.129, 10.16)
CAV3 (3p25)
Caveolin 3



Distal myopathy related to VCP (5.26, 4.17, 12.51, 1.48, 14.61)
167320
VCP (9p13-p12)
Valosin-containing protein



Distal Spinal Muscular Atrophy with Calf Predominance (12.18)
615575
FBXO38 (5q32)
F-box protein 38



Distal spinal muscular atrophy, type VB (15.12, 12.21)
614751
REEP1 (2p11.2)
Receptor accessory protein 1 (M)



Dominant distal hereditary motor neuropathy (12.22, 14.54)
AARS (16q22.1)
Alanyl-tRNA synthetase



Duchenne muscular dystrophy (1.1, 10.76)
310200
DMD (Xp21.2)
Dystrophin



Dysmyelinating leukodystrophy (15.36)
612319
FA2H (16q21-q23.1)
Fatty acid 2-hydroxylase



Dyssegmental dysplasia, Silverman-Handmaker type (6.7)
224410
HSPG2 (1p36.1-p34)
Perlecan



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