Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		0.300 GermlineCausalMutation disease ORPHANET ANKS3 is mutated in a family with autosomal recessive laterality defect. 27417436 2016
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation phenotype GWASCAT Exome-wide association study of plasma lipids in >300,000 individuals. 29083408 2017
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation phenotype CLINVAR
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		0.020 GeneticVariation disease BEFREE Thus, developmental defects associated with Anks3 depletion in zebrafish suggest that ANKS3 mutations may cause NPH or NPH-like disease in humans. 25671767 2015
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		0.020 Biomarker disease BEFREE We recently observed that the ankyrin repeat protein Anks3 interacts with the NPH family member Anks6. 26188091 2015
CUI: C0022679
Disease: Cystic kidney
Cystic kidney 		0.010 Biomarker disease BEFREE Several SAM-domain proteins that bind each other are mutated in patients with cystic kidneys or laterality defects, including the Ankyrin (ANK) and SAM domain-containing proteins ANKS6 and ANKS3, and the RNA-binding protein Bicc1. 29290488 2018
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.010 Biomarker disease BEFREE Metabolic Phenotyping of Anks3 Depletion in mIMCD-3 cells - a Putative Nephronophthisis Candidate. 29899363 2018
CUI: C0744669
Disease: Complex congenital heart disease
Complex congenital heart disease 		0.010 GeneticVariation disease BEFREE In a consanguineous multiplex family with a laterality defect that resembles situs inversus totalis, and complex congenital heart disease, we combined autozygome and exome analysis to identify a novel homozygous variant in ANKS3. 27417436 2016
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		0.010 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