Condition: Situs Inversus


rs751527253 in NPHP3-ACAD11;NPHP3 gene and Situs Inversus PMID 18371931 2008 Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

PMID 20007846 2010 Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.

PMID 27894351 2016 Characterizing the morbid genome of ciliopathies.

rs528302390 in PKD1L1 gene and Situs Inversus PMID 27616478 2016 Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.