DAB1, DAB adaptor protein 1, 1600

N. diseases: 81; N. variants: 43
Disease: Cerebellar degeneration ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0262404
Disease: Cerebellar degeneration
Cerebellar degeneration 		0.010 GeneticVariation disease BEFREE Together, these results establish an unstable repeat insertion in DAB1 as a cause of cerebellar degeneration; on the basis of the genetic and phenotypic evidence, we propose this mutation as the molecular basis for SCA37. 28686858 2017