| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.820 | GeneticVariation | disease | BEFREE | We also report the identification of a homozygous recessive mutation in IFT140 in a Jeune syndrome patient. | 24009529 | 2013 | ||||
|
0.820 | GermlineCausalMutation | disease | ORPHANET | We also report the identification of a homozygous recessive mutation in IFT140 in a Jeune syndrome patient. | 24009529 | 2013 | ||||
|
0.820 | Biomarker | disease | MGD | Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease. | 23469164 | 2013 | ||||
|
0.820 | GermlineCausalMutation | disease | ORPHANET | Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. | 23418020 | 2013 | ||||
|
0.820 | Biomarker | disease | MGD | We also report the identification of a homozygous recessive mutation in IFT140 in a Jeune syndrome patient. | 24009529 | 2013 | ||||
|
0.820 | GeneticVariation | disease | BEFREE | Through a combination of ciliome resequencing and Sanger sequencing, we identified IFT140 mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome. | 22503633 | 2012 | ||||
|
0.820 | GermlineCausalMutation | disease | ORPHANET | Through a combination of ciliome resequencing and Sanger sequencing, we identified IFT140 mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome. | 22503633 | 2012 | ||||
|
0.820 | Biomarker | disease | GENOMICS_ENGLAND | Through a combination of ciliome resequencing and Sanger sequencing, we identified IFT140 mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome. | 22503633 | 2012 | ||||
|
0.820 | CausalMutation | disease | CLINVAR |