Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778976254
rs778976254
Entrez Id: 51339
Gene Symbol: DACT1
DACT1
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.700 GeneticVariation UNIPROT Identification of novel rare mutations of DACT1 in human neural tube defects. 22610794 2012
dbSNP: rs1198900887
rs1198900887
Entrez Id: 51339;102723742
Gene Symbol: DACT1;LINC01500
DACT1;LINC01500
CUI: C0009402
Disease:
Colorectal Carcinoma
0.700 GeneticVariation UNIPROT
dbSNP: rs1064797092
rs1064797092
Entrez Id: 51339
Gene Symbol: DACT1
DACT1
CUI: C0265246
Disease:
Townes syndrome
0.010 GeneticVariation BEFREE Together, these findings suggest that the DACT1 c.1256G>A nonsense variant is causative of a specific genetic syndrome with features overlapping Townes-Brocks syndrome. 28054444 2017
dbSNP: rs562920966
rs562920966
Entrez Id: 51339
Gene Symbol: DACT1
DACT1
CUI: C0027794
Disease:
Neural Tube Defects
0.010 GeneticVariation BEFREE Our biochemical analyses revealed that among the five mutations, N356K and R45W show loss-of-function or reduced activities in inducing Dishevelled2 (DVL2) degradation and inhibiting jun-N-terminal kinase (JNK) phosphorylation, implicating mutated DACT1 as a risk factor for human NTDs. 22610794 2012
dbSNP: rs778976254
rs778976254
Entrez Id: 51339
Gene Symbol: DACT1
DACT1
CUI: C0027794
Disease:
Neural Tube Defects
0.010 GeneticVariation BEFREE Our biochemical analyses revealed that among the five mutations, N356K and R45W show loss-of-function or reduced activities in inducing Dishevelled2 (DVL2) degradation and inhibiting jun-N-terminal kinase (JNK) phosphorylation, implicating mutated DACT1 as a risk factor for human NTDs. 22610794 2012