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: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle
0.100 Biomarker disease HPO
CUI: C0426807
Disease: Short clavicle
Short clavicle
0.100 Biomarker phenotype HPO
CUI: C0426848
Disease: Sacral dimple
Sacral dimple
0.100 Biomarker phenotype HPO
CUI: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis of corpus callosum
0.100 Biomarker disease HPO
CUI: C0456070
Disease: Growth delay
Growth delay
0.100 Biomarker phenotype HPO
CUI: C0456132
Disease: Large fontanelle
Large fontanelle
0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.100 Biomarker disease HPO
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
0.100 Biomarker disease HPO
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly
0.100 Biomarker disease HPO
CUI: C0848558
Disease: Hypospadias
Hypospadias
0.100 Biomarker disease HPO
CUI: C0948187
Disease: Tracheomalacia
Tracheomalacia
0.100 Biomarker disease HPO
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
0.100 Biomarker phenotype HPO
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus
0.100 Biomarker phenotype HPO
CUI: C1839758
Disease: Narrow forehead
Narrow forehead
0.100 Biomarker phenotype HPO
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion
0.100 Biomarker phenotype HPO
CUI: C1840309
Disease: Short 4th metacarpal
Short 4th metacarpal
0.100 Biomarker phenotype HPO
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: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia
0.100 Biomarker disease 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: C1858085
Disease: Malar flattening
Malar flattening
0.100 Biomarker disease HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 Biomarker phenotype HPO