| | Disease name | Disease category |
| DKCA1/PFBMFT2/AA | H00507 | Dyskeratosis congenita | Ribosomopathy |
| H02569 | Pulmonary fibrosis and/or bone marrow failure, telomere-related | Hematologic disease |
| H01132 | Aplastic anemia | Hematologic disease |
| DKCB6/PFBMFT4 | H00507 | Dyskeratosis congenita | Ribosomopathy |
| H02569 | Pulmonary fibrosis and/or bone marrow failure, telomere-related | Hematologic disease |
| PFBMFT5 | H02569 | Pulmonary fibrosis and/or bone marrow failure, telomere-related | Hematologic disease |
| DKCA2/PFBMFT1/AA/CMM9 | H00507 | Dyskeratosis congenita | Ribosomopathy |
| H02569 | Pulmonary fibrosis and/or bone marrow failure, telomere-related | Hematologic disease |
| H01132 | Aplastic anemia | Hematologic disease |
| H00038 | Melanoma | Cancer |
| DKCX | H00507 | Dyskeratosis congenita | Ribosomopathy |
| DKCB1/PFBMFT9 | H00507 | Dyskeratosis congenita | Ribosomopathy |
| H02569 | Pulmonary fibrosis and/or bone marrow failure, telomere-related | Hematologic disease |
| DKCB2 | H00507 | Dyskeratosis congenita | Ribosomopathy |
| PFBMFT7 | H02569 | Pulmonary fibrosis and/or bone marrow failure, telomere-related | Hematologic disease |
| DKCB3 | H00507 | Dyskeratosis congenita | Ribosomopathy |
| IDDPMGS | H02843 | Brain malformations and seizures by impaired function of TRiC | Congenital malformation |
| NEDSVH | H02843 | Brain malformations and seizures by impaired function of TRiC | Congenital malformation |
| HSNSP | H02580 | Hereditary sensory neuropathy with spastic paraplegia | Nervous system disease |
| DKCA4/PFBMFT3 | H00507 | Dyskeratosis congenita | Ribosomopathy |
| H02569 | Pulmonary fibrosis and/or bone marrow failure, telomere-related | Hematologic disease |
| DKCA3_A5 | H00507 | Dyskeratosis congenita | Ribosomopathy |
| DKCA6_B7 | H00507 | Dyskeratosis congenita | Ribosomopathy |
| TPDS3/PFBMFT8/CRMCC3 | H02624 | Tumor predisposition syndrome | Cancer |
| H02569 | Pulmonary fibrosis and/or bone marrow failure, telomere-related | Hematologic disease |
| H02251 | Cerebroretinal microangiopathy with calcifications and cysts | Nervous system disease |
| CRMCC1 | H02251 | Cerebroretinal microangiopathy with calcifications and cysts | Nervous system disease |
| CRMCC2 | H02251 | Cerebroretinal microangiopathy with calcifications and cysts | Nervous system disease |