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Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
GLUCOCORTICOID DEFICIENCY WITH ACHALASIA
C0271742
GMPPA
Unknown
—
Disgenet
Fructose and mannose metabolism
Amino sugar and nucleotide sugar metabolism
Metabolic pathways
Biosynthesis of cofactors
Biosynthesis of nucleotide sugars
+2 more
TRAPPC11
Unknown
—
Disgenet
RAB GEFs exchange GTP for GDP on RABs
All
3
Causal
1
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
2
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
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5
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Triple a syndrome
3 shared genes
TRAPPC11, AAAS, GMPPA
Related via 3 shared genes including TRAPPC11, AAAS, GMPPA.
Intellectual developmental disorder movement cerebellar
1 shared gene
TRAPPC11
Related via 1 shared gene including TRAPPC11.
alacrima, achalasia, and intellectual disability syndrome
1 shared gene
GMPPA
Related via 1 shared gene including GMPPA.
Intellectual disability with strabismus syndrome
1 shared gene
GMPPA
Related via 1 shared gene including GMPPA.
Esophageal achalasia
1 shared gene
AAAS
Related via 1 shared gene including AAAS.
1
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