Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.510 Biomarker disease CTD_human Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.510 GermlineCausalMutation disease ORPHANET 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
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.510 GeneticVariation disease 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
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.510 Biomarker disease BEFREE Here we identify DACT3, a member of the DACT (Dpr/Frodo) gene family, as a negative regulator of Wnt/beta-catenin signaling that is transcriptionally repressed in colorectal cancer. 18538736 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.510 GeneticVariation disease UNIPROT
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.510 Biomarker disease CTD_human
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.300 Biomarker group CTD_human Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
CUI: C4479534
Disease: TOWNES-BROCKS SYNDROME 2
TOWNES-BROCKS SYNDROME 2 		0.300 Biomarker disease GENOMICS_ENGLAND Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome. 28054444 2017
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0.300 GermlineCausalMutation disease ORPHANET Identification of novel rare mutations of DACT1 in human neural tube defects. 22610794 2012
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis 		0.300 GermlineCausalMutation disease ORPHANET Identification of novel rare mutations of DACT1 in human neural tube defects. 22610794 2012
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.300 GeneticVariation disease UNIPROT Identification of novel rare mutations of DACT1 in human neural tube defects. 22610794 2012
CUI: C4479534
Disease: TOWNES-BROCKS SYNDROME 2
TOWNES-BROCKS SYNDROME 2 		0.300 Biomarker disease GENOMICS_ENGLAND Identification of novel rare mutations of DACT1 in human neural tube defects. 22610794 2012
CUI: C4479534
Disease: TOWNES-BROCKS SYNDROME 2
TOWNES-BROCKS SYNDROME 2 		0.300 Biomarker disease GENOMICS_ENGLAND Posterior malformations in Dact1 mutant mice arise through misregulated Vangl2 at the primitive streak. 19701191 2009
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		0.110 Biomarker disease BEFREE A heterozygous nonsense variant was identified in dapper, antagonist of beta-catenin, 1 (DACT1) via whole-exome sequencing in family members with imperforate anus, structural renal abnormalities, genitourinary anomalies, and/or ear anomalies. 28054444 2017
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		0.110 Biomarker group BEFREE A heterozygous nonsense variant was identified in dapper, antagonist of beta-catenin, 1 (DACT1) via whole-exome sequencing in family members with imperforate anus, structural renal abnormalities, genitourinary anomalies, and/or ear anomalies. 28054444 2017
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		0.110 Biomarker disease HPO
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		0.110 Biomarker group HPO
CUI: C0002902
Disease: Anencephaly
Anencephaly 		0.100 Biomarker disease HPO
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		0.100 Biomarker disease HPO
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		0.100 Biomarker disease HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.100 Biomarker phenotype HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO