| Affected Gene | Function/role | Pathology |
| MOV10 | RISC Complex RNA helicase (gene silencing) | Hepatitis and Autism Spectrum Disorder |
| PPM1J | Protein Phosphatase, Mg2+/Mn2+ Dependent 1J (direct p53 effector protein) | Hepatocellular carcinoma |
| ST7L | Suppression Of Tumorigenicity 7 Like | Deleted and rearranged in a variety of cancers |
| CAMTA1 | Calmodulin Binding Transcription Activator 1 | Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities and Epithelioid Hemangioendothelioma |
| CISH | Cytokine Inducible SH2 Containing Protein (member of the SOC family of suppressors) | Bacteremia 2 and Malaria |
| MAPKAPK3 | MAPK Activated Protein Kinase 3 (regulates cellular processes such as proliferation, differention, and cell-cycle progression) | Macular Dystrophy, Patterned, 3 and Bacteremia 2 |
| PPP2R2C | Protein Phosphatase 2 Regulatory Subunit Bgamma (implicated in the negative control of cell growth and division) | Inflammatory Bowel Disease 3 |
| GTF2H4 | General Transcription Factor IIH Subunit 4 (involved in general and transcription-coupled repair) | Trichothiodystrophy and Cockayne Syndrome |
| CCDC6 | Coiled-Coil Domain Containing 6 (possible tumor suppressor protein) | Differentiated Thyroid Carcinoma and Papillary Carcinoma |
| R3HCC1L | R3H Domain And Coiled-Coil Containing 1 (growth inhibition and differentiation) | Unknown |
| ENDOU | Endonuclease, Poly(U) Specific (Regulate B-cell activation-induced cell death) | Rapp-Hodgkin Syndrome and Noonan Syndrome 6 |
| ZBTB21 | Zinc Finger and BTB Domain Containing 21 (DNA binding transcription repressor) | Intellectual Developmental Disorder, Autosomal Dominant 7 and Noonan Syndrome 1 |