| | 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 |