Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
Danon disease (5.15) | 300257 | |
Deafness, autosomal dominant nonsyndromic sensorineural 10 (10.45) | 601316 | |
Dejerine-Sottas neuropathy, autosomal recessive (14.29, 14.45) | 145900 | |
Dejerine-Sottas syndrome (14.2, 14.43, 14.54, 14.55, 14.28, 14.16) | 145900 | |
Dejerine-Sottas syndrome (14.4, 14.27, 14.44) | 145900 | |
Dejerine-Sottas Syndrome (14.1, 14.42, 14.5, 14.6) | 145900 | |
Desmin-related myopathy (5.1, 1.28, 10.44, 1.58, 5.14, 10.121) | 601419 | |
Desmin-related myopathy with Mallory bodies (2.13, 5.12, 3.16, 3.32) | 602771 | |
Dilated cardiomyopathy realted to GATAD1 (10.79) | ||
Dilated cardiomyopathy related to alpha-crystallin (5.2, 10.70) | ||
Dilated cardiomyopathy related to BAG3 (5.7, 10.69, 14.74) | 613881 | |
Dilated cardiomyopathy related to cardiac ankyrin repeat protein (10.77, 10.22) | ||
Dilated Cardiomyopathy related to DOLK (10.84) | 610768 | |
Dilated cardiomyopathy related to integrin-linked kinase (10.76) | 602366 | |
Dilated cardiomyopathy related to laminin-alpha4 (10.71) | 600133 | |
Dilated cardiomyopathy related to MURC (10.83) | ||
Dilated cardiomyopathy related to MYBPC3 (10.4, 3.46, 10.74, 10.101) | ||
Dilated cardiomyopathy related to nesprin-1 (1.6, 13.63, 16.21, 10.82) | ||
Dilated cardiomyopathy related to PRDM16 (10.73, 10.99) | 615373 | |
Dilated cardiomyopathy related to RAF1 (10.75) | 615916 | |
dilated cardiomyopathy, 1aa (10.62, 10.24, 3.56, 4.25) | 612158 | |
Dilated cardiomyopathy, 1F ( | 601419 | ? - (6q23) |
Dilated cardiomyopathy, 1I (5.1, 1.28, 10.44, 1.58, 5.14, 10.121) | 604765 | |
Dilated Cardiomyopathy, 1L (1.35, 10.47) | 606685 | |
Dilated cardiomyopathy, 1N (1.36, 10.49, 2.16, 10.26) | ||
Dilated cardiomyopathy, related to DSG2 (10.111, 10.63) | 612877 | |
Distal hereditary motor neuronopathy (14.81, 12.15) | ||
Distal hereditary motor neuropathies (14.13, 12.39) | ||
Distal motor neuropathy (12.38) | ||
Distal motor neuropathy related to SYT2 (11.14, 12.37, 11.15) | ||
Distal Myopathy (4.28) | ||
Distal myopathy related to caveolin (1.27, 6.6, 5.24, 6.7, 4.13, 10.132, 10.16) | ||
Distal myopathy with nebulin defect (3.2, 4.11, 4.12) | ||
Distal Myopathy with protein inclusions (4.27) | ||
Distal Spinal Muscular Atrophy with Calf Predominance (12.20) | 615575 | |
Distal spinal muscular atrophy, type VB (15.12, 12.23) | 614751 | |
Dominant distal hereditary motor neuropathy (12.24, 14.58) | ||
Duchenne muscular dystrophy (1.1, 10.81) | 310200 | |
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 | |
Dyskinetic cerebral palsy, partial agenesis of the corpus callosum and mitochondrial myopathy (16.69) | ||
Dysmyelinating leukodystrophy (15.40) | 612319 | |
Dyssegmental dysplasia, Silverman-Handmaker type (6.8) | 224410 | |
Dystrophia myotonica (6.1) | 160900 |