DAB1, DAB adaptor protein 1, 1600

N. diseases: 2; N. variants: 39
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3889636
Disease: SPINOCEREBELLAR ATAXIA 37
SPINOCEREBELLAR ATAXIA 37 		0.530 Biomarker disease GENOMICS_ENGLAND This study reveals the unstable ATTTC repeat mutation within the DAB1 gene as the underlying genetic cause and provides evidence of reelin-DAB1 signalling dysregulation in the spinocerebellar ataxia type 37. 29939198 2018
CUI: C3889636
Disease: SPINOCEREBELLAR ATAXIA 37
SPINOCEREBELLAR ATAXIA 37 		0.530 Biomarker disease GENOMICS_ENGLAND A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. 28686858 2017
CUI: C3889636
Disease: SPINOCEREBELLAR ATAXIA 37
SPINOCEREBELLAR ATAXIA 37 		0.530 Biomarker disease GENOMICS_ENGLAND A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. 28686858 2017
CUI: C3889636
Disease: SPINOCEREBELLAR ATAXIA 37
SPINOCEREBELLAR ATAXIA 37 		0.530 GermlineCausalMutation disease ORPHANET
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 Biomarker disease CTD_human Reductions in Reelin protein and mRNA and Dab 1 mRNA and elevations in Reln receptor VLDLR mRNA demonstrate impairments in the Reelin signaling system in autism, accounting for some of the brain structural and cognitive deficits observed in the disorder. 15820235 2005