SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.
|
20087400 |
2010 |
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis.
|
18775957 |
2008 |
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Jarcho-Levin syndrome
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Introduction of a point of mutation into HES7, a specific mutation previously associated with clinical SCDO, eliminated clock gene oscillations, successfully reproducing the defects in the segmentation clock.
|
31461642 |
2019 |
Jarcho-Levin syndrome
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.
|
23897666 |
2013 |
Jarcho-Levin syndrome
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.
|
20087400 |
2010 |
Jarcho-Levin syndrome
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis.
|
18775957 |
2008 |
Jarcho-Levin syndrome
|
0.440 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Jarcho-Levin syndrome
|
0.440 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.
|
25659135 |
2015 |
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
|
0.310 |
Biomarker
|
disease |
CTD_human |
|
|
|
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
SPONDYLOCOSTAL DYSOSTOSIS 4
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
|
|
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Cleft Palate
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Cryptorchidism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dwarfism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Fetal Growth Retardation
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Hernia, Inguinal
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Kyphosis deformity of spine
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Meningomyelocele
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Microcephaly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Respiratory Insufficiency
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Scoliosis, unspecified
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|