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: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.100 Biomarker phenotype HPO
CUI: C1846228
Disease: Absence of pubertal development
Absence of pubertal development 		0.100 Biomarker phenotype HPO
CUI: C1848514
Disease: Short fourth metatarsal
Short fourth metatarsal 		0.100 Biomarker phenotype HPO
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		0.100 Biomarker phenotype HPO
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		0.100 Biomarker phenotype HPO
CUI: C1856765
Disease: Irregular dentition
Irregular dentition 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		0.100 Biomarker phenotype HPO
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		0.100 Biomarker phenotype HPO
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		0.100 Biomarker phenotype HPO
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3277117
Disease: Caudal appendage
Caudal appendage 		0.100 Biomarker phenotype HPO
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.100 Biomarker phenotype HPO
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		0.100 Biomarker phenotype HPO
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE 		0.100 Biomarker phenotype HPO
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 GeneticVariation disease UNIPROT Mutations in DCHS1 cause mitral valve prolapse. 26258302 2015
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 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 CausalMutation disease CLINVAR
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: 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 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