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, 1.28, 10.44, 1.58, 5.14, 10.121) | 601419 | DES (2q35) Desmin |
| Desmin-related myopathy with Mallory bodies (2.13, 5.12, 3.16, 3.32) | 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, 14.74) | 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, 3.46, 10.74, 10.101) | MYBPC3 (11p11.2) Cardiac myosin binding protein-C | |
| Dilated cardiomyopathy related to nesprin-1 (1.6, 13.63, 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, 3.56, 4.25) | 612158 | ACTN2 (1q42-q43) Actinin alpha2 |
| Dilated cardiomyopathy, 1F ( | 601419 | ? - (6q23) |
| Dilated cardiomyopathy, 1I (5.1, 1.28, 10.44, 1.58, 5.14, 10.121) | 604765 | DES (2q35) Desmin |
| Dilated Cardiomyopathy, 1L (1.35, 10.47) | 606685 | SGCD (5q33-q34) Delta-sarcoglycan |
| Dilated cardiomyopathy, 1N (1.36, 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 (14.81, 12.15) | HINT1 (5q23.3) Histidine triad nucleotide binding protein 1 | |
| Distal hereditary motor neuropathies (14.13, 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 (11.14, 12.37, 11.15) | SYT2 (1q32.1) Synaptotagmin II | |
| Distal Myopathy (4.28) | PLIN4 (19p13.3) Perilipin 4 | |
| Distal myopathy related to caveolin (1.27, 6.6, 5.24, 6.7, 4.13, 10.132, 10.16) | CAV3 (3p25.3) Caveolin 3 | |
| Distal myopathy with nebulin defect (3.2, 4.11, 4.12) | NEB (2q22) Nebulin | |
| Distal Myopathy with protein inclusions (4.27) | SMPX (Xp22.12) Small Muscle Protein, X-linked | |
| 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, 3.30, 3.31, 3.44, 3.25, 3.18, 5.32, 3.29, 2.53, 16.30, 3.66) | 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 |