Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Danon disease (5.15)
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, autosomal recessive (14.29, 14.45)
145900
PRX (19q13)
Periaxin



Dejerine-Sottas syndrome (14.2, 14.43, 14.54, 14.55, 14.28, 14.16)
145900
MPZ (1q22)
Myelin protein zero



Dejerine-Sottas syndrome (14.4, 14.27, 14.44)
145900
EGR2 (10q21.1)
Early growth response 2 protein



Dejerine-Sottas Syndrome (14.1, 14.42, 14.5, 14.6)
145900
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



Desmin-related myopathy (5.1, 1.23, 10.44, 1.53, 5.14, 10.121)
601419
DES (2q35)
Desmin



Desmin-related myopathy with Mallory bodies (2.13, 5.12, 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, 14.73)
613881
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



Dilated cardiomyopathy related to cardiac ankyrin repeat protein (10.77, 10.22)
ANKRD1 (10q23.31)
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, 3.44, 10.74, 10.101)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



Dilated cardiomyopathy related to nesprin-1 (1.6, 13.61, 16.21, 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, 3.54, 4.25)
612158
ACTN2 (1q42-q43)
Actinin alpha2



Dilated cardiomyopathy, 1F (601419
? - (6q23)
Dilated cardiomyopathy, 1I (5.1, 1.23, 10.44, 1.53, 5.14, 10.121)
604765
DES (2q35)
Desmin



Dilated Cardiomyopathy, 1L (1.30, 10.47)
606685
SGCD (5q33-q34)
Delta-sarcoglycan



Dilated cardiomyopathy, 1N (1.31, 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 hereditary motor neuronopathy (14.80, 12.15)
HINT1 (5q23.3)
Histidine triad nucleotide binding protein 1



Distal hereditary motor neuropathies (12.39)
GBF1 (10q24.32)
Golgi-specific brefeldin-A resistance factor 1



Distal motor neuropathy (12.38)
SPTAN1 (9q34.11)
Spectrin, alpha, nonerythrocytic 1



Distal motor neuropathy related to SYT2 (11.13, 12.37)
SYT2 (1q32.1)
Synaptotagmin II



Distal myopathy related to caveolin (1.22, 6.6, 5.24, 6.7, 4.13, 10.131, 10.16)
CAV3 (3p25.3)
Caveolin 3



Distal myopathy with nebulin defect (3.2, 4.11, 4.12)
NEB (2q22)
Nebulin



Distal Spinal Muscular Atrophy with Calf Predominance (12.20)
615575
FBXO38 (5q32)
F-box protein 38



Distal spinal muscular atrophy, type VB (15.12, 12.23)
614751
REEP1 (2p11.2)
Receptor accessory protein 1 (M)



Dominant distal hereditary motor neuropathy (12.24, 14.58)
AARS (16q22.1)
Alanyl-tRNA synthetase



Duchenne muscular dystrophy (1.1, 10.81)
310200
DMD (Xp21.2)
Dystrophin



Dusty core disease related to RYR1 (8.1, 3.29, 3.30, 3.42, 3.24, 3.17, 5.32, 3.28, 2.53, 16.30, 3.64)
180901
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



Dyskinetic cerebral palsy, partial agenesis of the corpus callosum and mitochondrial myopathy (16.69)
MRPS25 (3p25.1)
Mitochondrial ribosomal protein S25 (M)



Dysmyelinating leukodystrophy (15.40)
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



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