DCHS1, dachsous cadherin-related 1, 8642

N. diseases: 100; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1843003
Disease: MITRAL VALVE PROLAPSE, MYXOMATOUS 2
MITRAL VALVE PROLAPSE, MYXOMATOUS 2
0.600 GeneticVariation disease UNIPROT Mutations in DCHS1 cause mitral valve prolapse. 26258302 2015
CUI: C4551950
Disease: VAN MALDERGEM SYNDROME 1
VAN MALDERGEM SYNDROME 1
0.600 Biomarker disease GENOMICS_ENGLAND Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. 24056717 2013
CUI: C4551950
Disease: VAN MALDERGEM SYNDROME 1
VAN MALDERGEM SYNDROME 1
0.600 Biomarker disease GENOMICS_ENGLAND Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. 24056717 2013
CUI: C4551950
Disease: VAN MALDERGEM SYNDROME 1
VAN MALDERGEM SYNDROME 1
0.600 GeneticVariation disease UNIPROT Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. 24056717 2013
CUI: C1843003
Disease: MITRAL VALVE PROLAPSE, MYXOMATOUS 2
MITRAL VALVE PROLAPSE, MYXOMATOUS 2
0.600 CausalMutation disease CLINVAR
CUI: C1843003
Disease: MITRAL VALVE PROLAPSE, MYXOMATOUS 2
MITRAL VALVE PROLAPSE, MYXOMATOUS 2
0.600 Biomarker disease CTD_human
CUI: C4551950
Disease: VAN MALDERGEM SYNDROME 1
VAN MALDERGEM SYNDROME 1
0.600 CausalMutation disease CLINVAR
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
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
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
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
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome
0.320 GeneticVariation disease BEFREE Deleterious variants in DCHS1 are prevalent in sporadic cases of mitral valve prolapse. 29224215 2018
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome
0.320 GeneticVariation disease BEFREE Further genetic studies identified two additional families in which a second deleterious DCHS1 mutation segregates with MVP. 26258302 2015
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome
0.320 Biomarker disease MGD Further genetic studies identified two additional families in which a second deleterious DCHS1 mutation segregates with MVP. 26258302 2015
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome
0.320 Biomarker disease HPO
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
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
CUI: C0340364
Disease: Familial mitral valve prolapse
Familial mitral valve prolapse
0.300 GermlineCausalMutation disease ORPHANET Mutations in DCHS1 cause mitral valve prolapse. 26258302 2015
Heterotopia, Periventricular, Autosomal Recessive
0.300 Biomarker disease CTD_human Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. 24056717 2013
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.300 GeneticVariation disease UNIPROT
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia
0.120 GeneticVariation disease BEFREE Here we study periventricular heterotopia (PH) by analyzing cerebral organoids derived from induced pluripotent stem cells (iPSCs) of patients with mutations in the cadherin receptor-ligand pair DCHS1 and FAT4 or from isogenic knockout (KO) lines<sup>1,3</sup>. 30858616 2019
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia
0.120 GeneticVariation disease BEFREE Cilia positioning and number within migrating neurons was also impaired with comparable defects detected following a reduction in levels of an upstream modulator of Mob2 function, Dchs1, a previously identified locus associated with PH. 29593499 2018
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia
0.120 Biomarker disease HPO
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.100 GeneticVariation disease GWASDB Genome-wide association database developed in the Japanese Integrated Database Project. 19629137 2009
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate
0.100 Biomarker disease HPO