Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.200 Biomarker disease MGD
CUI: C1853444
Disease: Heterotaxy, Visceral, 3, Autosomal
Heterotaxy, Visceral, 3, Autosomal 		0.200 Biomarker disease MGD
CUI: C3151057
Disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL
HETEROTAXY, VISCERAL, 4, AUTOSOMAL 		0.200 Biomarker disease MGD
CUI: C3151867
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED 		0.200 Biomarker disease MGD
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		0.200 Biomarker disease MGD
CUI: C3553676
Disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
HETEROTAXY, VISCERAL, 6, AUTOSOMAL 		0.200 Biomarker disease MGD
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.100 Biomarker disease HPO
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.100 Biomarker disease HPO
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		0.020 GeneticVariation disease BEFREE These include Invs and Anks6, which are both excellent candidates for the modifier as mutations in these genes result in PKD and both genes are known to genetically and physically interact with Nek8. 27114383 2016
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		0.020 GeneticVariation disease BEFREE Comparative phenotype analysis in cy/+ rats and our Anks6(I747N) mice further showed that the two models display noticeably different PKD phenotypes and that there is a defective interaction between ANKS6 with ANKS3 in the rat and between ANKS6 and BICC1 (bicaudal C homolog 1) in the mouse. 26039630 2015
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		0.010 Biomarker disease BEFREE We recently observed that the ankyrin repeat protein Anks3 interacts with the NPH family member Anks6. 26188091 2015
CUI: C0311245
Disease: Congenital cystic kidney disease
Congenital cystic kidney disease 		0.010 Biomarker disease BEFREE These variants are unlikely to account for PKD in these patients, yet the screening of other affected populations may provide information about the involvement of PKDR1 as a modifier gene in cystic kidney disease. 18434273 2008
CUI: C0334054
Disease: cystic disease
cystic disease 		0.010 PosttranslationalModification disease BEFREE Recent studies support the etiological role of the ANKS6 SAM domain in human cystic diseases, but its function in kidney remains unknown. 26039630 2015
CUI: C0542518
Disease: Enlarged kidney
Enlarged kidney 		0.100 Biomarker phenotype HPO
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. 28892062 2017
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.010 Biomarker phenotype BEFREE Evidence of renal cysts in these mice confirmed the crucial role of the SAM domain of ANKS6 in kidney function. 26039630 2015
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.320 Biomarker group RGD Thus, we not only provide the first in vivo evidence for a causal link between the novel Anks6((p.R823W)) gene mutation and polycystic kidney disease, but we also developed a new transgenic rat model that will serve as an important resource for further exploration of the still unknown function of Anks6. 21119215 2010
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.320 Biomarker group BEFREE Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat. 18434273 2008
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.320 Biomarker group BEFREE The ankyrin repeat and sterile α motif (SAM) domain-containing six gene (Anks6) is a candidate for polycystic kidney disease (PKD). 26039630 2015
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.320 Biomarker group RGD Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat. 16207829 2005
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.320 Biomarker group HPO
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases 		0.310 Biomarker group CTD_human ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. 23793029 2013
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases 		0.310 Biomarker group BEFREE These variants are unlikely to account for PKD in these patients, yet the screening of other affected populations may provide information about the involvement of PKDR1 as a modifier gene in cystic kidney disease. 18434273 2008
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		0.300 Biomarker group CTD_human We also identify six families with ANKS6 mutations affected by nephronophthisis, including severe cardiovascular abnormalities, liver fibrosis and situs inversus. 23793029 2013