Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.680 GermlineCausalMutation ORPHANET ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). 16807408

2006

Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.680 GermlineCausalMutation ORPHANET Sequencing of CHMP2B in 433 ALS cases from the North of England identified 4 cases carrying 3 missense mutations, including one novel mutation, p.Thr104Asn, none of which were present in 500 neurologically normal controls. 20352044

2010

Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.680 GermlineCausalMutation ORPHANET Genetic overlap between apparently sporadic motor neuron diseases. 23155438

2012