NPHP3, nephrocystin 3, 27031

N. diseases: 93; N. variants: 33
Disease: Situs Inversus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		0.120 CausalMutation disease CLINVAR Characterizing the morbid genome of ciliopathies. 27894351 2016
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		0.120 CausalMutation disease CLINVAR Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. 20007846 2010
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		0.120 Biomarker disease BEFREE Knockdown of nphp3 also led to situs inversus phenotypes due to defective cilia at Kupffer's vesicle. 20462968 2010
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		0.120 CausalMutation disease CLINVAR Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. 18371931 2008
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		0.120 GeneticVariation disease BEFREE In humans, we show that NPHP3 mutations can cause a broad clinical spectrum of early embryonic patterning defects comprising situs inversus, polydactyly, central nervous system malformations, structural heart defects, preauricular fistulas, and a wide range of congenital anomalies of the kidney and urinary tract (CAKUT). 18371931 2008