Source: ORPHANET

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 400916
Gene Symbol: CHCHD10
CHCHD10
coiled-coil-helix-coiled-coil-helix domain containing 10 0.623 0.462 5.4E-06
SPINAL MUSCULAR ATROPHY, JOKELA TYPE
disease 0.710 None 1.000 1 0 2014 2018
Entrez Id: 400916
Gene Symbol: CHCHD10
CHCHD10
coiled-coil-helix-coiled-coil-helix domain containing 10 0.623 0.462 5.4E-06
MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT
disease 0.700 None 1.000 1 0 2014 2018
Entrez Id: 400916
Gene Symbol: CHCHD10
CHCHD10
coiled-coil-helix-coiled-coil-helix domain containing 10 0.623 0.462 5.4E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease 0.500 None 0.955 7 0 2014 2020
Entrez Id: 400916
Gene Symbol: CHCHD10
CHCHD10
coiled-coil-helix-coiled-coil-helix domain containing 10 0.623 0.462 5.4E-06
Frontotemporal Dementia With Motor Neuron Disease
disease 0.360 None 1.000 1 0 2014 2018