Condition: Cakut


rs869320624 in EMC1-AS1;EMC1 gene and Cakut PMID 27657687 2017 Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

rs1114167358 in LIFR gene and Cakut PMID 28334964 2017 Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations.

rs1555879360 in NRIP1 gene and Cakut PMID 28381549 2017 A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.