DCHS1, dachsous cadherin-related 1, 8642

N. diseases: 100; N. variants: 8
Disease: Van Maldergem Wetzburger Verloes syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832390
Disease: Van Maldergem Wetzburger Verloes syndrome
Van Maldergem Wetzburger Verloes syndrome 		0.520 Biomarker disease BEFREE In human, mutations of the protocadherins FAT4 and DCHS1 result in Van Maldergem syndrome, which is characterised, in part, by craniofacial abnormalities. 31358536 2019
CUI: C1832390
Disease: Van Maldergem Wetzburger Verloes syndrome
Van Maldergem Wetzburger Verloes syndrome 		0.520 GeneticVariation disease BEFREE We addressed this question by examining functional cerebral asymmetries in a patient with Van Maldergem Syndrome (VMS) (MIM#601390), which is caused by mutations in DCHS1-FAT4 cadherins, using a dichotic listening task. 25930014 2016
CUI: C1832390
Disease: Van Maldergem Wetzburger Verloes syndrome
Van Maldergem Wetzburger Verloes syndrome 		0.520 Biomarker disease CTD_human Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. 24056717 2013
CUI: C1832390
Disease: Van Maldergem Wetzburger Verloes syndrome
Van Maldergem Wetzburger Verloes syndrome 		0.520 GermlineCausalMutation disease ORPHANET Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. 24056717 2013