| Disease ID | Source | Name | Description |
| 612956 | OMIM | Familial paroxysmal ventricular fibrillation 2 (VF2) | A cardiac arrhythmia marked by fibrillary contractions of the ventricular muscle due to rapid repetitive excitation of myocardial fibers without coordinated contraction of the ventricle and by absence of atrial activity. The disease is caused by variants affecting the gene represented in this entry. A genetic variation 340 bases upstream from the ATG start site of the DPP6 gene is the cause of familial paroxysmal ventricular fibrillation type 2. |
| 616311 | OMIM | Mental retardation, autosomal dominant 33 (MRD33) | A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD33 patients manifest microcephaly and intellectual disability. The disease is caused by variants affecting the gene represented in this entry. |