CDKN2D, cyclin dependent kinase inhibitor 2D, 1032

N. diseases: 110; N. variants: 2
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.010 Biomarker phenotype BEFREE Double transgenic mice with homozygous knock-in of the Stargardt-like macular dystrophy (STDG3; 797-801_AACTT) mutation of Elovl4 with skin-specific rescue of wild-type Elovl4 expression (S <sup>+</sup> Elovl4 <sup>mut/mut</sup> mice) develop seizures by P19 and die by P21. 29168048 2018