WDR19, WD repeat domain 19, 57728

N. diseases: 143; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.630 GeneticVariation disease BEFREE Targeted exome sequencing identified biallelic mutations in WDR19, encoding an IFT-A subunit previously associated with MZSDS-related chondrodysplasia, Jeune asphyxiating thoracic dysplasia and cranioectodermal dysplasia, linked to primary cilia dysfunction, and in TEKT1 which encodes tektin-1 an uncharacterized member of the tektin family, mutations of which may cause ciliary dyskinesia. 29121203 2018
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.630 GeneticVariation disease BEFREE Mutations in the genes encoding the six subunits of the IFT-A complex (IFT43, IFT121, IFT122, IFT139, IFT140, and IFT144) are known to cause skeletal ciliopathies, including cranioectodermal dysplasia (CED). 29220510 2018
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.630 GermlineCausalMutation disease ORPHANET Ciliary disorder of the skeleton. 22791528 2012
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.630 GeneticVariation disease BEFREE Through exome sequencing we identified compound heterozygous mutations in WDR19 in a Norwegian family with Sensenbrenner syndrome. 22019273 2011
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.630 Biomarker disease GENOMICS_ENGLAND
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.630 Biomarker disease CTD_human
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.630 Biomarker disease GENOMICS_ENGLAND
CUI: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13 		0.610 CausalMutation disease CLINVAR Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. 27596865 2016
CUI: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13 		0.610 CausalMutation disease CLINVAR Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. 25726036 2015
CUI: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13 		0.610 AlteredExpression disease BEFREE In this study, we visually validated the expression pattern of mutant WDR19 protein in the kidneys of NPHP 13 patients. 25726036 2015
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: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13 		0.610 Biomarker disease GENOMICS_ENGLAND Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies. 24504730 2014
CUI: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13 		0.610 CausalMutation disease CLINVAR WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. 23683095 2013
CUI: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13 		0.610 CausalMutation disease CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409 2013
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: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13 		0.610 GeneticVariation disease UNIPROT 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
CUI: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C3280598
Disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY 		0.600 CausalMutation disease CLINVAR Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports. 28621010 2017
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.600 CausalMutation disease CLINVAR Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports. 28621010 2017
CUI: C3280598
Disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY 		0.600 CausalMutation disease CLINVAR Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. 27596865 2016
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8 		0.600 CausalMutation disease CLINVAR Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. 27596865 2016