Disease phenotype | OMIM | Gene symbol (chromosome) protein |
| Danon disease | LAMP2 (Xq24) lysosomal-associated membrane protein 2 precursor | |
| Deafness, autosomal dominant nonsyndromic sensorineural 10 | EYA4 (6q23-24) eyes absent 4 | |
| Dejerine-Sottas hypertrophic neuropathy, recessive | GJB1 (Xq13.1) gap junction protein, beta 1, 32kDa (connexin 32) | |
| Dejerine-Sottas neuropathy | EGR2 (10q21.1) early growth response 2 protein | |
| Dejerine-Sottas neuropathy, autosomal recessive | PRX (19q13) periaxin | |
| Dejerine-Sottas Syndrome | PMP22 (17p12-p11.2) peripheral myelin protein 22 | |
| Dejerine-Sottas syndrome | MPZ (1q22) myelin protein zero | |
| Desmin-related myopathy | CRYAB (11q22.3-q23.1) crystallin, alpha B | |
| Desmin-related myopathy with Mallory bodies | SEPN1 (1p36.13) Selenoprotein N1 | |
| dilated cardiomyopathy due to integrin-linked kinase defect | ILK (11p15.5-p15.4) integrin-linked kinase | |
| dilated cardiomyopathy due to laminin-alpha4 defect | LAMA4 (6q21) laminin alpha 4 | |
| dilated cardiomyopathy, 1aa | ACTN2 (1q42-q43) actinin alpha2 | |
| Duchenne muscular dystrophy | DMD (Xp21.2) dystrophin | |
| dynamin2 related distal myopathy | DNM2 (19p13.2) dynamin 2 | |
| dysautonomia familial , riley-day syndrome | IKBKAP (9q31-q33) inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein | |
| Dysautonomia, familial | IKBKAP (9q31-q33) inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein | |
| Dyssegmental dysplasia, Silverman-Handmaker type | HSPG2 (1p36.1-p34) perlecan | |
| Dystransthyretinemic hyperthyroxinemia | TTR (18q12.1) transthyretin (prealbumin, amyloidosis type I) | |
| Dystrophia myotonica | DMPK (19q13.3) myotonic dystrophy protein kinase |