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atelosteogenesis type 1
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
SLC26A2
FLNB
SCT
FZD2
FLNA
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
GSE27786_NKCELL_VS_MONO_MAC_DN
FUJII_YBX1_TARGETS_DN
MASSARWEH_RESPONSE_TO_ESTRADIOL
HOXA9_DN.V1_UP
GSE14000_UNSTIM_VS_16H_LPS_DC_UP
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Curated Studies
Most Correlated Studies
Mouse Phenotypes - Dwarfism
Mouse Phenotypes - Osteochondrodysplasia
OMIM - Omodysplasia
OMIM - Congenital disorder
OMIM - Skeletal and Integument Related Disorders
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Literature
Most Relevant Literature
Atelosteogenesis type III: orthopedic management.
Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders i…
Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations.
Computational biology insights into genotype-clinical phenotype-protein phenotype relationships betw…
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Clinical Trials
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There were no clinical trials for atelosteogenesis type 1
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