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Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
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Subtype of:
Neurodevelopmental disorder
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
MONDO_0030025
ADARB1
Causal
32220291
32719099
Open Targets
C6 deamination of adenosine
Formation of editosomes by ADAR proteins
neurodevelopmental disorder with seizures, hypotonia, and microcephaly
MONDO_0030025
JKAMP
Unknown
41643666
Open Targets
—
All
2
Causal
1
Unknown
1
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
2
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1 shared gene
ADARB1
Related via 1 shared gene including ADARB1.
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Related via 1 shared gene including ADARB1.
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1 shared gene
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Related via 1 shared gene including ADARB1.
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1 shared gene
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Related via 1 shared gene including ADARB1.
Neurodevelopmental disorder
2 shared genes
ADARB1, JKAMP
Related via 2 shared genes including ADARB1, JKAMP.
1
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