Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
Danon disease (5.18) | 300257 | |
Deafness, autosomal dominant nonsyndromic sensorineural 10 (10.48) | 601316 | |
Dejerine-Sottas neuropathy, autosomal recessive (14.36, 14.53) | 145900 | |
Dejerine-Sottas syndrome (14.2, 14.51, 14.62, 14.63, 14.35, 14.18) | 145900 | |
Dejerine-Sottas syndrome (14.4, 14.34, 14.52) | 145900 | |
Dejerine-Sottas Syndrome (14.1, 14.50, 14.5, 14.6) | 145900 | |
Desmin-related myopathy (5.1, 10.47, 5.15, 10.135, 11.44) | 601419 | |
Desmin-related myopathy with Mallory bodies (2.13, 5.13, ) | 602771 | |
Developmental delay with hypotonia, myopathy and brain abnormalities (2.46) | 620240 | |
Dilated cardiomyopathy realted to GATAD1 (10.83) | ||
Dilated cardiomyopathy related to alpha-crystallin (5.2, 10.73, 14.85) | ||
Dilated cardiomyopathy related to BAG3 (5.7, 10.72, 14.82) | 613881 | |
Dilated cardiomyopathy related to cardiac ankyrin repeat protein (10.81, 10.22) | ||
Dilated Cardiomyopathy related to DOLK (10.95) | 610768 | |
Dilated cardiomyopathy related to integrin-linked kinase (10.80) | 602366 | |
Dilated cardiomyopathy related to laminin-alpha4 (10.74) | 600133 | |
Dilated cardiomyopathy related to MURC (10.94) | ||
Dilated cardiomyopathy related to MYBPC3 (10.4, 3.53, 10.77, 10.113) | ||
Dilated cardiomyopathy related to nesprin-1 (1.5, 13.68, 16.23, 10.93) | ||
Dilated cardiomyopathy related to PRDM16 (10.76, 10.111) | 615373 | |
Dilated cardiomyopathy related to RAF1 (10.78) | 615916 | |
dilated cardiomyopathy, 1aa (10.65, 10.25, 3.34, 4.10) | 612158 | |
Dilated cardiomyopathy, 1F ( | 601419 | ? - (6q23) |
Dilated cardiomyopathy, 1I (5.1, 10.47, 5.15, 10.135, 11.44) | 604765 | |
Dilated Cardiomyopathy, 1L (1.30, 10.50) | 606685 | |
Dilated cardiomyopathy, 1N (1.31, 10.52, 2.16, 10.27) | ||
Dilated cardiomyopathy, 1OO (10.79) | 620247 | |
Dilated cardiomyopathy, 2C (10.84) | 618189 | |
Dilated cardiomyopathy, 2D (10.85) | 619371 | |
Dilated cardiomyopathy, 2E (10.18, 10.86) | 619492 | |
Dilated cardiomyopathy, 2F (10.87) | 619747 | |
Dilated cardiomyopathy, 2G (10.88) | 619897 | |
Dilated cardiomyopathy, 2H (10.89) | 620203 | |
Dilated cardiomyopathy, 2I (10.90) | 620462 | |
Dilated cardiomyopathy, related to DSG2 (10.123, 10.66) | 612877 | |
Distal hereditary motor neuropathies (14.15, 12.46) | ||
Distal motor neuropathy (12.34) | ||
Distal motor neuropathy related to SYT2 (11.14, 12.45, 11.15) | ||
Distal Myopathy (4.26) | ||
Distal myopathy with nebulin defect (3.6, 4.17, 4.18) | ||
Distal Spinal Muscular Atrophy with Calf Predominance (12.29) | 615575 | |
Distal spinal muscular atrophy, type VB (15.14, 12.35, 12.18) | 614751 | |
Duchenne muscular dystrophy (1.1, 10.92) | 310200 | |
Dusty core disease related to RYR1 (8.1, 3.27, 3.28, 3.24, 5.39, 3.26, 2.50, 16.31, 3.60) | 180901 | |
Dysmyelinating leukodystrophy (15.44) | 612319 | |
Dyssegmental dysplasia, Silverman-Handmaker type (6.8) | 224410 | |
Dystrophia myotonica (6.1) | 160900 |