| Gene | Gene name | Role or function | Pathology |
| PSPC1 | Paraspeckle component 1 | Controls gene expression via an RNA nuclear retention mechanism | Inborne genetic disease |
| GAS8 | Growth arrest-specific protein8 | Putative tumor suppressor protein | Cillary dyskinesia |
| UCKL1 | Uridine-cytidine kinase 1-like 1 | Catalyzes the phosphorylation of uridine to uridine monophosphate | Inborne genetic disorder |
| SH3BP5L | SH3 binding domain protein 5-like | Involved in intracellular signal transduction andnegative regulation of kinase activity | Inborne genetic disease |
| S100B | S100 calcium binding protein B | Regulation of cell cycle progression andcell differentiation | Syringoma; neurofibroma |
| VAMP7 | Vesicle-associated membrane protein | Transmembrane protein | Tetanus; gonadal dysgenesis |
| SECTM1 | Secreted and transmembrane 1 | May be involved in thymocyte signaling | Ulceroglandular tularemia; corneal dystrophy; familial apolipoprotein C-Ii deficiency; epithelial and subepithelial dystrophy |
| NDN-1 | Necdin, MAGE family member | Growth suppressor that facilitates the entry of the cell into cell cycle arrest; also interacts with p53 to inhibit cell growth | Prader-Willi syndrome |
| FBXO25-8 | F-Box protein 25 | Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex | A chromosomal aberration involving FBXO25 is a cause of X-linked intellectual disability (XLID) |
| RECQL4-17 | RecQ-like helicase | May play a role in the repair of DNA damaged by ultraviolet light or other mutagens; magnesium-dependent ATP-dependent DNA-helicase activity | Recon Progeroid syndrome; hereditary breast ovarian cancer syndrome |
| DOCK8-24 | Dedicator of cytokinesis 8 | Activates small GTPase CDC42 by exchanging bound GDP for free GTP; required for interstitial dendritic cell (DC) migration; required for CD4(+) T-cell migration; involved in NK cell cytotoxicity | Hyper-Ige syndrome 2, autosomal recessive; combined immuniodeficiency due to Dock 8 deficiency; severe combined immuniodeficiency; autosomal dominant non-syndromic intellectual disability |