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macrothrombocytopenia, isolated
macrothrombocytopenia, isolated
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
macrothrombocytopenia, isolated
GNE
Unknown
—
ClinGen
Amino sugar and nucleotide sugar metabolism
Biosynthesis of various nucleotide sugars
Metabolic pathways
Biosynthesis of nucleotide sugars
Sialic acid metabolism
Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2
+3 more
TRPM7
Unknown
—
ClinGen
Necroptosis
Cellular senescence
NOD-like receptor signaling pathway
Mineral absorption
TRP channels
+2 more
All
2
Causal
0
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
2
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1 shared gene
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Related via 1 shared gene including TRPM7.
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1 shared gene
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Related via 1 shared gene including GNE.
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1 shared gene
TRPM7
Related via 1 shared gene including TRPM7.
1
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