WDR60, WD repeat domain 60, 55112

N. diseases: 91; N. variants: 12
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 		0.620 Biomarker disease GENOMICS_ENGLAND Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies. 29271569 2018
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.620 Biomarker disease GENOMICS_ENGLAND The exome analysis allowed to identify mutations not previously reported in the DYNC2H1 (MIM 603297) and WDR60 (MIM 615462) genes, both codifying for ciliary intraflagellar transport components whose mutations are known to cause Jeune syndrome. 26874042 2016
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.620 GeneticVariation disease BEFREE The exome analysis allowed to identify mutations not previously reported in the DYNC2H1 (MIM 603297) and WDR60 (MIM 615462) genes, both codifying for ciliary intraflagellar transport components whose mutations are known to cause Jeune syndrome. 26874042 2016
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.620 Biomarker disease GENOMICS_ENGLAND Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. 25492405 2015
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.620 GermlineCausalMutation disease ORPHANET Analysis of an additional 54 skeletal ciliopathy exomes identified compound heterozygous mutations in WDR60 in a Spanish individual with Jeune syndrome of relatively mild presentation. 23910462 2013
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.620 GeneticVariation disease BEFREE Analysis of an additional 54 skeletal ciliopathy exomes identified compound heterozygous mutations in WDR60 in a Spanish individual with Jeune syndrome of relatively mild presentation. 23910462 2013
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.620 CausalMutation disease CLINVAR
CUI: C3809691
Disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY 		0.600 Biomarker disease GENOMICS_ENGLAND Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies. 29271569 2018
CUI: C3809691
Disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY 		0.600 Biomarker disease GENOMICS_ENGLAND New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy. 26874042 2016
CUI: C3809691
Disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY 		0.600 Biomarker disease GENOMICS_ENGLAND Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. 25492405 2015
CUI: C3809691
Disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY 		0.600 GeneticVariation disease UNIPROT Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. 25492405 2015
CUI: C3809691
Disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY 		0.600 Biomarker disease GENOMICS_ENGLAND Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. 23910462 2013
CUI: C3809691
Disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY 		0.600 GeneticVariation disease UNIPROT Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. 23910462 2013
CUI: C3809691
Disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3809691
Disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY 		0.600 CausalMutation disease CLINVAR
CUI: C3809691
Disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY 		0.600 GeneticVariation disease CLINVAR
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		0.400 Biomarker disease CTD_human
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		0.400 CausalMutation disease CLINVAR
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.320 GeneticVariation disease BEFREE Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies. 29271569 2018
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.320 Biomarker disease GENOMICS_ENGLAND Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. 23910462 2013
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.320 GeneticVariation disease BEFREE Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. 23910462 2013
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		0.310 GeneticVariation disease BEFREE Recently, mutations in WDR34 or WDR60 (candidate dynein intermediate chains) were identified in SRPS. 25830415 2015
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		0.310 Biomarker disease CTD_human
CUI: C0432197
Disease: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome, Verma-Naumoff type 		0.300 GermlineCausalMutation disease ORPHANET Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. 23910462 2013
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		0.300 Biomarker disease CTD_human