TABLE 5.
Gene | OMIM | Syndrome | References | Described regulator of | References |
UBA5 | 617132; 617133 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 44; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 | Duan et al. (2016); Muona et al. (2016) | NF-κB signaling | Li et al. (2017, 2019); Xi et al. (2013) |
UFC1 | 618076 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH | Nahorski et al. (2018) |
The potential implication of the gene products in the regulation of innate and/or adaptive is indicated. When available, the OMIM (Online Mendelian Inheritance in Man®) disorder number is also reported.