DCHS1, dachsous cadherin-related 1, 8642

N. diseases: 100; N. variants: 8
Disease: Periventricular gray matter heterotopia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849173
Disease: Periventricular gray matter heterotopia
Periventricular gray matter heterotopia 		0.310 Biomarker disease GENOMICS_ENGLAND Here we show that mutations in genes encoding the receptor-ligand cadherin pair DCHS1 and FAT4 lead to a recessive syndrome in humans that includes periventricular neuronal heterotopia. 24056717 2013
CUI: C1849173
Disease: Periventricular gray matter heterotopia
Periventricular gray matter heterotopia 		0.310 Biomarker disease BEFREE Here we show that mutations in genes encoding the receptor-ligand cadherin pair DCHS1 and FAT4 lead to a recessive syndrome in humans that includes periventricular neuronal heterotopia. 24056717 2013