Version: 8.0.0
Date: Tue Jan 28 2025
6 results
Disease Genes: CG13794 (Dme)

retinitis pigmentosa

Disease
Source: DOID:10584
Definition: A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
Genes: CG13794 (Dme)

intellectual disability

Disease
Source: DOID:1059
Definition: A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.
Genes: CG13794 (Dme)

cerebral creatine deficiency syndrome 1

Disease
Source: DOID:0050800
Definition: A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28.
Genes: CG13794 (Dme)

multiple system atrophy

Disease
Source: DOID:4752
Definition: Not Available
Genes: CG13794 (Dme)

status epilepticus

Disease
Source: DOID:1824
Definition: Not Available
Genes: CG13794 (Dme)

visual epilepsy

Disease
Source: DOID:11832
Definition: Not Available
Genes: CG13794 (Dme)