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 |
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 |
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 |
Ciliopathies
|
0.020 |
Biomarker
|
disease |
BEFREE |
Our finding broadens the spectrum of WDR60-related phenotypes and shows the utility of broad multigene panels during the genetic work-up of patients with ciliopathies.
|
29271569 |
2018 |
Schizophrenia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In the haplotype analysis, rs2788478 G-rs2657375 T-rs1039621 A within the region between WDR60 and ESYT genes and rs2013 C (ESYT2)-rs6459896 A (NCAPG2) haplotypes were associated with SCZ in the same sample.
|
28508933 |
2017 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Polydactyly
|
0.320 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.
|
23910462 |
2013 |
Polydactyly
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.
|
23910462 |
2013 |
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 |
Ciliopathies
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
These findings show that WDR60 mutations can cause skeletal ciliopathies and suggest a role for WDR60 in ciliogenesis.
|
23910462 |
2013 |
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Identification of ten loci associated with height highlights new biological pathways in human growth.
|
18391950 |
2008 |
Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Identification of ten loci associated with height highlights new biological pathways in human growth.
|
18391950 |
2008 |
Jeune thoracic dystrophy
|
0.620 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|