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XB-GENEPAGE-1013166
dse dermatan sulfate epimerase
Anatomical Phenotypes
Phenotypes manually curated with terms from the Xenopus phenotype ontology
covering anatomical, gene ontology, and neurobehavioral phenotypes.
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| abnormal molecular function (2 sources), absent dorsal fin (2 sources), abnormal bending of tail (1 source), abnormal cell migration (1 source), abnormal migratory neural crest cell (1 source), abnormally decreased mass of chondrocranium (1 source), abnormally decreased number of melanophore (1 source), abnormally decreased volume of chondrocranium (1 source), decreased length of tail (1 source), decreased size of the branchial arch skeleton (1 source), decreased size of the chondrocranium (1 source), decreased size of the eye (1 source), decreased size of the head (1 source), decreased size of the hyoid arch skeleton (1 source), decreased size of the mandibular arch (1 source), decreased size of the notochord (1 source) |
| Expression Phenotypes
Gene expression phenotype annotations where the gene of interest has been
disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from
differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1,
FDR <= 0.05 and an absolute LogFC >= 2.
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| Manual annotations: dse manipulated (5 sources) |
| Computed annotations: dse assayed (5 sources) |
| Diseases
Diseases from the human disease ontology (DO) manually associated with phenotypes
from disease models. Sources are grouped by anatomical (AP) and expression (EP) phenotypes.
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| Ehlers-Danlos syndrome (6AP sources, 5 EP sources) |
| Experiments (Reagents)
These are short form descriptions of experiments using reagents targeting
the gene of interest.
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| Xla Wt + dse MO (10 sources) |
| Monarch Ortholog Phenotypes
These phenotypes are associated with this gene with a has phenotype relation via Monarch.
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| Human (26 sources): Adducted thumb, Arachnodactyly, Arthralgia, Blue sclerae, Brachycephaly, Camptodactyly, Cerebral atrophy, Delayed gross motor development, Dental crowding, Downslanted palpebral fissures, [+] |
| Mouse (9 sources): abnormal cutaneous collagen fibril morphology, abnormal eosinophil cell number, abnormal hypodermis morphology, decreased birth body size, decreased body length, decreased litter size, decreased skin tensile strength, kinked tail, preweaning lethality, complete penetrance |
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View all ortholog results at Monarch |