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: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.010 Biomarker group 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
CUI: C4053775
Disease: Pituitary stalk interruption syndrome
Pituitary stalk interruption syndrome 		0.010 GeneticVariation disease BEFREE We found four additional candidate genes for isolated PSIS (DCHS1, ROBO2, CCDC88C, and KIF14) and one for syndromic PSIS (KAT6A). 29165578 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 Biomarker disease BEFREE Myelin-forming cell-specific cadherin-19 is a marker for minimally infiltrative glioblastoma stem-like cells. 25361488 2015
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 Biomarker disease BEFREE Myelin-forming cell-specific cadherin-19 is a marker for minimally infiltrative glioblastoma stem-like cells. 25361488 2015
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 Biomarker disease BEFREE Myelin-forming cell-specific cadherin-19 is a marker for minimally infiltrative glioblastoma stem-like cells. 25361488 2015
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 GeneticVariation disease BEFREE Morpholino knockdown of the zebrafish homologue dachsous1b resulted in a cardiac atrioventricular canal defect that could be rescued by wild-type human DCHS1, but not by DCHS1 messenger RNA with the familial mutation. 26258302 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 Biomarker disease BEFREE Myelin-forming cell-specific cadherin-19 is a marker for minimally infiltrative glioblastoma stem-like cells. 25361488 2015
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
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		0.100 Biomarker disease HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.100 Biomarker group HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0024236
Disease: Lymphedema
Lymphedema 		0.100 Biomarker disease HPO
CUI: C0024636
Disease: Malocclusion
Malocclusion 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0026034
Disease: Microstomia
Microstomia 		0.100 Biomarker disease HPO
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 Biomarker disease HPO