Version: 8.0.0
Date: Tue Jan 28 2025
4 results
Disease Genes: CHCHD2 (Hsa)

Parkinson's disease

Disease
Source: DOID:14330
Definition: A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
Genes: CHCHD2 (Hsa)

frontotemporal dementia and/or amyotrophic lateral sclerosis 2

Disease
Source: DOID:0060214
Definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
Genes: CHCHD2 (Hsa)

Parkinson's disease 22

Disease
Source: DOID:0080504
Definition: A late onset Parkinson's disease that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the coiled-coil-helix-coiled-coil-helix domain containing 2 gene on chromosome 7p11.2.
Genes: CHCHD2 (Hsa)

spinal muscular atrophy, Jokela type

Disease
Source: DOID:0081356
Definition: A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11.
Genes: CHCHD2 (Hsa)