| Affected Gene | Function/role | Pathology |
| RAD 50 | Double-stranded repair protein | Nijmegen Breakage Syndrome-Like Disorder and Hereditary Breast Ovarian Cancer Syndrome |
| PURB | Single-stranded DNA binding protein (DNA replication and transcription) | Myelodysplastic Syndrome |
| E4F | Transcription factor 1 (p53 related pathways) | Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations and Renal Artery Obstruction |
| GFER | Growth factor, augnentor of liver regeneration (maintenance of mitochondrian genomes and the cell division cyle) | Myopathy, Mitochondrial Progressive, with Congenital Cataract and Developmental Delay and Mitochondrial Disease |
| MPG | N-methyladenine glycosylase (base excision repair) | Geotrichosis |
| NME3 | Nucleoside diphosphate kinase (involved in the apoptotyic process) | Lipase Deficiency, Combined and Heinz Body Anemias |
| NME4 | Nucleoside diphosphate kinase 3 (implicated in pro-apoptotic signaling) | Unknown |
| NTHL1 | Nth-like DNA glycosylase 1 | Familial Adenomatous Polyposis 3 and Bap1 Tumor Predisposition Syndrome |
| POLR3K | RNA Polymerase III subunit K (catayzes the transcription of DNA into RNA) | Leukodystrophy, Hypomyelinating, 21, and Leukodystrophy |
| SOX8 | SRY-Box transcription factor 8 (involved in embryonic development and cell fate) | Alpha Thalassemia-Intellectual Disability Syndrome Type 1 and Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease |
| TELO2 | Telomere maintenace 2 (functions in the S-phase check-point of the cell cycle and DNA repair) | You-Hoover-Fong Syndrome and Nail-Patella Syndrome |
| CDK10 | Cyclin dependent kinase 10 (has role in cellular proliferation in the G2-M phase) | Al Kaissi Syndrome and Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations |
| CDT1 | Chromatin licensing and DNA replication 1 (DNA replication - G1 phase) | Meier-Gorlin Syndrome 4 and Meier-Gorlin Syndrome |
| GAS8 | Gene growth arrest specific 8 (tumor suppressor protein) | Ciliary Dyskinesia, Primary, 33 and Primary Ciliary Dyskinesia |
| TCF25 | Transcription factor 25 (embryonic development) | Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations and Vulvovaginitis |
| ZNF276 | Zinc Finger protein 276 (transcriptional regulation) | Fanconi Anemia, Complementation Group A |
| ZNF 778 | Zinc Finger protein 778 | Microdeletion Syndrome and Kbg Syndrome |
| ERG | ETS transcription factor | Regulators of embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis |