MITRAL VALVE PROLAPSE, MYXOMATOUS 2
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in DCHS1 cause mitral valve prolapse.
|
26258302 |
2015 |
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 |
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 |
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 |
MITRAL VALVE PROLAPSE, MYXOMATOUS 2
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
MITRAL VALVE PROLAPSE, MYXOMATOUS 2
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
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 |
Mitral Valve Prolapse Syndrome
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Deleterious variants in DCHS1 are prevalent in sporadic cases of mitral valve prolapse.
|
29224215 |
2018 |
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 |
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 |
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 |
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 |
Colorectal Carcinoma
|
0.300 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
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 |
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 |
Periventricular Nodular Heterotopia
|
0.120 |
Biomarker
|
disease |
HPO |
|
|
|
Narcolepsy
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association database developed in the Japanese Integrated Database Project.
|
19629137 |
2009 |
Anus, Imperforate
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|