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 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 Biomarker disease GENOMICS_ENGLAND
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: 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 RGD Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat. 16207829 2005
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: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.430 Biomarker disease HPO
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.400 Biomarker disease HPO
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.320 Biomarker group HPO
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.100 Biomarker disease HPO
CUI: C0542518
Disease: Enlarged kidney
Enlarged kidney 		0.100 Biomarker phenotype HPO
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.100 Biomarker disease HPO
CUI: C1415817
Disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
HETEROTAXY, VISCERAL, 2, AUTOSOMAL 		0.200 Biomarker disease MGD
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: 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: C3809320
Disease: NEPHRONOPHTHISIS 16
NEPHRONOPHTHISIS 16 		0.700 Biomarker disease CTD_human
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: 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