WDR19, WD repeat domain 19, 57728

N. diseases: 143; N. variants: 31
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79436363
rs79436363
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C4225376
Disease:
SENIOR-LOKEN SYNDROME 8 		A 0.800 CausalMutation CLINVAR Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports. 28621010 2017
dbSNP: rs79436363
rs79436363
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C4225376
Disease:
SENIOR-LOKEN SYNDROME 8 		A 0.800 CausalMutation CLINVAR Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. 27596865 2016
dbSNP: rs79436363
rs79436363
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C4225376
Disease:
SENIOR-LOKEN SYNDROME 8 		A 0.800 CausalMutation CLINVAR Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. 25726036 2015
dbSNP: rs387906980
rs387906980
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C4225376
Disease:
SENIOR-LOKEN SYNDROME 8 		0.800 GeneticVariation UNIPROT WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. 23683095 2013
dbSNP: rs387906980
rs387906980
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C4225376
Disease:
SENIOR-LOKEN SYNDROME 8 		0.800 GeneticVariation UNIPROT Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409 2013
dbSNP: rs587777349
rs587777349
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C4225376
Disease:
SENIOR-LOKEN SYNDROME 8 		0.800 GeneticVariation UNIPROT WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. 23683095 2013
dbSNP: rs587777349
rs587777349
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C4225376
Disease:
SENIOR-LOKEN SYNDROME 8 		0.800 GeneticVariation UNIPROT Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409 2013
dbSNP: rs79436363
rs79436363
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C4225376
Disease:
SENIOR-LOKEN SYNDROME 8 		0.800 GeneticVariation UNIPROT WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. 23683095 2013
dbSNP: rs79436363
rs79436363
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C4225376
Disease:
SENIOR-LOKEN SYNDROME 8 		0.800 GeneticVariation UNIPROT Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409 2013
dbSNP: rs79436363
rs79436363
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C4225376
Disease:
SENIOR-LOKEN SYNDROME 8 		A 0.800 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409 2013
dbSNP: rs387906980
rs387906980
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C3280616
Disease:
CRANIOECTODERMAL DYSPLASIA 4 		0.800 GeneticVariation UNIPROT Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. 22019273 2011
dbSNP: rs387906982
rs387906982
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C3280598
Disease:
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY 		0.800 GeneticVariation UNIPROT Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. 22019273 2011
dbSNP: rs387906983
rs387906983
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C3280612
Disease:
NEPHRONOPHTHISIS 13 		0.800 GeneticVariation UNIPROT Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. 22019273 2011
dbSNP: rs387906980
rs387906980
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C3280616
Disease:
CRANIOECTODERMAL DYSPLASIA 4 		C 0.800 CausalMutation CLINVAR
dbSNP: rs387906980
rs387906980
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C4225376
Disease:
SENIOR-LOKEN SYNDROME 8 		C 0.800 CausalMutation CLINVAR
dbSNP: rs387906982
rs387906982
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C3280598
Disease:
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY 		C 0.800 CausalMutation CLINVAR
dbSNP: rs387906983
rs387906983
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C3280612
Disease:
NEPHRONOPHTHISIS 13 		G 0.800 CausalMutation CLINVAR
dbSNP: rs587777349
rs587777349
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C4225376
Disease:
SENIOR-LOKEN SYNDROME 8 		C 0.800 CausalMutation CLINVAR
dbSNP: rs786204852
rs786204852
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C4225376
Disease:
SENIOR-LOKEN SYNDROME 8 		A 0.800 CausalMutation CLINVAR
dbSNP: rs786204852
rs786204852
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C4225376
Disease:
SENIOR-LOKEN SYNDROME 8 		0.800 GeneticVariation UNIPROT
dbSNP: rs79436363
rs79436363
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C3280598
Disease:
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY 		A 0.700 CausalMutation CLINVAR Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports. 28621010 2017
dbSNP: rs79436363
rs79436363
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C3280612
Disease:
NEPHRONOPHTHISIS 13 		A 0.700 CausalMutation CLINVAR Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. 27596865 2016
dbSNP: rs79436363
rs79436363
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C3280598
Disease:
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY 		A 0.700 CausalMutation CLINVAR Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. 27596865 2016
dbSNP: rs79436363
rs79436363
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C3280612
Disease:
NEPHRONOPHTHISIS 13 		A 0.700 CausalMutation CLINVAR Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. 25726036 2015
dbSNP: rs79436363
rs79436363
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C3280598
Disease:
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY 		A 0.700 CausalMutation CLINVAR Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. 25726036 2015