Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809320
Disease: NEPHRONOPHTHISIS 16
NEPHRONOPHTHISIS 16 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3809320
Disease: NEPHRONOPHTHISIS 16
NEPHRONOPHTHISIS 16 		0.700 Biomarker disease CTD_human
CUI: C3809320
Disease: NEPHRONOPHTHISIS 16
NEPHRONOPHTHISIS 16 		0.700 CausalMutation disease CLINVAR
CUI: C3809320
Disease: NEPHRONOPHTHISIS 16
NEPHRONOPHTHISIS 16 		0.700 GeneticVariation disease UNIPROT ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. 23793029 2013
CUI: C3809320
Disease: NEPHRONOPHTHISIS 16
NEPHRONOPHTHISIS 16 		0.700 Biomarker disease GENOMICS_ENGLAND [Effect of traditional Chinese medicine and Western medicine research on medical records of traditional Chinese medicine]. 2379302 1990
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.430 GeneticVariation disease BEFREE Overall, these data indicate the importance of ANKS6 in human kidney development and suggest a mechanism by which mutations in ANKS6 may contribute to an NPHP-like phenotype in humans. 24610927 2014
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.430 GeneticVariation disease BEFREE Whole-exome sequencing identifies a novel compound heterozygous mutation of ANKS6 gene in a Chinese nephronophthisis patient. 31678577 2020
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.430 Biomarker disease HPO
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.430 GeneticVariation disease BEFREE We also identify six families with ANKS6 mutations affected by nephronophthisis, including severe cardiovascular abnormalities, liver fibrosis and situs inversus. 23793029 2013
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.430 Biomarker disease GENOMICS_ENGLAND
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.400 Biomarker disease CTD_human We also identify six families with ANKS6 mutations affected by nephronophthisis, including severe cardiovascular abnormalities, liver fibrosis and situs inversus. 23793029 2013
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.400 Biomarker disease HPO
CUI: C0022679
Disease: Cystic kidney
Cystic kidney 		0.330 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: C0022679
Disease: Cystic kidney
Cystic kidney 		0.330 AlteredExpression disease BEFREE However, cystic kidneys in G2A and Inv mice maintained high levels of a non-phosphorylated form of ANKS6. 29395339 2018
CUI: C0022679
Disease: Cystic kidney
Cystic kidney 		0.330 Biomarker disease CTD_human ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. 23793029 2013
CUI: C0022679
Disease: Cystic kidney
Cystic kidney 		0.330 GeneticVariation 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: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		0.310 GeneticVariation disease BEFREE The detection of the PKDr1 locus and associated QTL should accelerate research into the genetic causes of ADPKD. 9097967 1997
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		0.310 Biomarker disease CTD_human Altered expression pattern of polycystin-2 in acute and chronic renal tubular diseases. 12089381 2002
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.300 Biomarker disease CTD_human ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. 23793029 2013
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		0.300 Biomarker disease CTD_human ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. 23793029 2013
CUI: C0887850
Disease: Polycystic Kidney, Type 1 Autosomal Dominant Disease
Polycystic Kidney, Type 1 Autosomal Dominant Disease 		0.300 Biomarker disease CTD_human Altered expression pattern of polycystin-2 in acute and chronic renal tubular diseases. 12089381 2002
CUI: C1855681
Disease: Nephronophthisis, familial juvenile
Nephronophthisis, familial juvenile 		0.300 GermlineCausalMutation disease ORPHANET ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. 23793029 2013
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2 		0.300 GermlineCausalMutation disease ORPHANET ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. 23793029 2013
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		0.300 Biomarker disease CTD_human Altered expression pattern of polycystin-2 in acute and chronic renal tubular diseases. 12089381 2002
CUI: C1415817
Disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
HETEROTAXY, VISCERAL, 2, AUTOSOMAL 		0.200 Biomarker disease MGD