WDR19, WD repeat domain 19, 57728

N. diseases: 143; N. variants: 31
Disease: Jeune thoracic dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.610 GeneticVariation disease BEFREE The phenotype associated with homozygous p.Arg106ProPOC1B may thus be highly variable, analogous to homozygous p.Leu710Ser in WDR19 causing either isolated retinitis pigmentosa or Jeune syndrome. 25044745 2014
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.610 GermlineCausalMutation disease ORPHANET Ciliary disorder of the skeleton. 22791528 2012
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.610 GermlineCausalMutation disease ORPHANET Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. 22019273 2011
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.610 CausalMutation disease CLINVAR
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.610 Biomarker disease GENOMICS_ENGLAND