Disease: Ciliopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.240 GeneticVariation disease BEFREE In conclusion, we identified compound heterozygous splice site variants of SCLT1 in a patient with a new form of ciliopathies that exhibits clinical features of SLS. 30425282 2018
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.240 Biomarker disease BEFREE The Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft palate and polydactyly. 28486600 2017
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.240 Biomarker disease BEFREE Our findings suggest a previously unrecognized role of SCLT1 and TBC1D32 in the pathogenesis of ciliopathy in humans. 24285566 2014
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.240 Biomarker disease BEFREE The molecular composition of DAPs was recently elucidated and mutations in two genes encoding DAPs components (CEP164/NPHP15, SCLT1) have been associated with human ciliopathies, namely nephronophthisis and orofaciodigital syndrome. 24882706 2014
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.240 Biomarker disease MGD