Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.500 Biomarker GENOMICS_ENGLAND Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. 24140113

2013
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.500 GermlineCausalMutation ORPHANET Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. 24140113

2013
Entrez Id: 755
Gene Symbol: CFAP410
CFAP410
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.320 Biomarker GENOMICS_ENGLAND An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. 26167768

2015
Entrez Id: 755
Gene Symbol: CFAP410
CFAP410
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.320 Biomarker GENOMICS_ENGLAND Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 23105016

2013
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.300 GermlineCausalMutation ORPHANET Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. 26077881

2015