Disease: Renal dysplasia and retinal aplasia (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.310 Biomarker disease GENOMICS_ENGLAND Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome. 30425282 2018
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.310 GeneticVariation disease BEFREE Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome. 30425282 2018
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.310 Biomarker disease GENOMICS_ENGLAND Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing. 28005958 2016
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.310 Biomarker disease GENOMICS_ENGLAND Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX. 24285566 2014