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: 25978
Gene Symbol: CHMP2B
CHMP2B
charged multivesicular body protein 2B 0.543 0.731 4.6E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease 0.680 None 1.000 3 0 2006 2016
Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B
charged multivesicular body protein 2B 0.543 0.731 4.6E-06
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia
disease 0.500 None 1.000 1 0 2005 2013
Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B
charged multivesicular body protein 2B 0.543 0.731 4.6E-06
Behavioral variant of frontotemporal dementia
disease 0.300 None 1.000 2 0 2012 2013
Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B
charged multivesicular body protein 2B 0.543 0.731 4.6E-06
Primary Progressive Nonfluent Aphasia
disease 0.300 None 1.000 1 0 2013 2013