Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 HPO
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
0.430 Biomarker disease GENOMICS_ENGLAND