Klippel-Feil Syndrome
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Klippel-Feil Syndrome
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.
|
18425797 |
2008 |
Klippel-Feil Syndrome
|
0.740 |
Biomarker
|
disease |
HPO |
|
|
|
Klippel-Feil Syndrome
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Multiple mis-sense variants were identified in patients with ocular and/or skeletal (Klippel-Feil) anomalies including one individual with heterozygous alterations in GDF3 and GDF6.
|
19864492 |
2010 |
Klippel-Feil Syndrome
|
0.740 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.
|
18425797 |
2008 |
Klippel-Feil Syndrome
|
0.740 |
Biomarker
|
disease |
BEFREE |
Mutated genes for both dominant (GDF6 and GDF3) and recessive (MEOX1) forms of Klippel-Feil syndrome have been shown to be involved in somite development via transcription regulation and signaling pathways.
|
26238661 |
2015 |
Klippel-Feil Syndrome
|
0.740 |
Biomarker
|
disease |
CTD_human |
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.
|
18425797 |
2008 |
Klippel-Feil Syndrome
|
0.740 |
Biomarker
|
disease |
BEFREE |
Of particular interest were two regions (Chr8, Max LOD = 3.04; Chr12, Max LOD = 2.09) identified within the subset of "CTD-negative" families, both of which harbor growth differentiation factors (GDF6, GDF3) implicated in the development of Klippel-Feil syndrome (KFS).
|
23620759 |
2013 |
Klippel-Feil Syndrome
|
0.740 |
GeneticVariation
|
disease |
LHGDN |
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.
|
18425797 |
2008 |
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.
|
19129173 |
2009 |
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
GDF6 knockout mice are best distinguished by fusion of carpals and tarsals and GDF6 knockdown in Xenopus results in a high incidence of anterior axial defects consistent with a role for GDF6 in the etiology, diversity, and variability of KFS.
|
18425797 |
2008 |
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
We have described four different KFS classes (KF1-4) within a comprehensive classification that addresses KFS genetic heterogeneity.
|
9880643 |
1998 |
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
|
0.730 |
Biomarker
|
disease |
CTD_human |
|
|
|
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
GDF6, a novel locus for a spectrum of ocular developmental anomalies.
|
17236135 |
2007 |
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Klippel-Feil anomaly with sacral agenesis: an additional subtype, type IV.
|
3065353 |
1988 |
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
|
0.730 |
Biomarker
|
disease |
BEFREE |
GDF6 knockout mice are best distinguished by fusion of carpals and tarsals and GDF6 knockdown in Xenopus results in a high incidence of anterior axial defects consistent with a role for GDF6 in the etiology, diversity, and variability of KFS.
|
18425797 |
2008 |
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.
|
19129173 |
2009 |
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
GDF6 knockout mice are best distinguished by fusion of carpals and tarsals and GDF6 knockdown in Xenopus results in a high incidence of anterior axial defects consistent with a role for GDF6 in the etiology, diversity, and variability of KFS.
|
18425797 |
2008 |
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.
|
23307924 |
2013 |
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
|
0.730 |
Biomarker
|
disease |
BEFREE |
Of particular interest were two regions (Chr8, Max LOD = 3.04; Chr12, Max LOD = 2.09) identified within the subset of "CTD-negative" families, both of which harbor growth differentiation factors (GDF6, GDF3) implicated in the development of Klippel-Feil syndrome (KFS).
|
23620759 |
2013 |
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
MICROPHTHALMIA, ISOLATED 4 (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.
|
19129173 |
2009 |
MICROPHTHALMIA, ISOLATED 4 (disorder)
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
MICROPHTHALMIA, ISOLATED 4 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|