DCHS1, dachsous cadherin-related 1, 8642

N. diseases: 100; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768737101
rs768737101
Entrez Id: 8642
Gene Symbol: DCHS1
DCHS1
CUI: C1843003
Disease:
MITRAL VALVE PROLAPSE, MYXOMATOUS 2
0.800 GeneticVariation UNIPROT Mutations in DCHS1 cause mitral valve prolapse. 26258302 2015
dbSNP: rs483352919
rs483352919
Entrez Id: 8642
Gene Symbol: DCHS1
DCHS1
CUI: C4551950
Disease:
VAN MALDERGEM SYNDROME 1
0.800 GeneticVariation UNIPROT Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. 24056717 2013
dbSNP: rs483352919
rs483352919
Entrez Id: 8642
Gene Symbol: DCHS1
DCHS1
CUI: C4551950
Disease:
VAN MALDERGEM SYNDROME 1
A 0.800 CausalMutation CLINVAR
dbSNP: rs768737101
rs768737101
Entrez Id: 8642
Gene Symbol: DCHS1
DCHS1
CUI: C1843003
Disease:
MITRAL VALVE PROLAPSE, MYXOMATOUS 2
A 0.800 CausalMutation CLINVAR
dbSNP: rs201457110
rs201457110
Entrez Id: 8642
Gene Symbol: DCHS1
DCHS1
CUI: C1843003
Disease:
MITRAL VALVE PROLAPSE, MYXOMATOUS 2
0.700 GeneticVariation UNIPROT Mutations in DCHS1 cause mitral valve prolapse. 26258302 2015
dbSNP: rs10160659
rs10160659
Entrez Id: 8642
Gene Symbol: DCHS1
DCHS1
CUI: C0027404
Disease:
Narcolepsy
0.700 GeneticVariation GWASDB Genome-wide association database developed in the Japanese Integrated Database Project. 19629137 2009
dbSNP: rs148882462
rs148882462
Entrez Id: 8642
Gene Symbol: DCHS1
DCHS1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.700 GeneticVariation UNIPROT
dbSNP: rs369091875
rs369091875
Entrez Id: 8642
Gene Symbol: DCHS1
DCHS1
CUI: C4551950
Disease:
VAN MALDERGEM SYNDROME 1
G 0.700 CausalMutation CLINVAR
dbSNP: rs369091875
rs369091875
Entrez Id: 8642
Gene Symbol: DCHS1
DCHS1
CUI: C0410528
Disease:
Skeletal dysplasia
G 0.700 CausalMutation CLINVAR
dbSNP: rs483352917
rs483352917
Entrez Id: 8642
Gene Symbol: DCHS1
DCHS1
CUI: C4551950
Disease:
VAN MALDERGEM SYNDROME 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs483352918
rs483352918
Entrez Id: 8642
Gene Symbol: DCHS1
DCHS1
CUI: C4551950
Disease:
VAN MALDERGEM SYNDROME 1
T 0.700 CausalMutation CLINVAR