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Multiple congenital anomalies-hypotonia-seizures syndrome 2
Multiple congenital anomalies-hypotonia-seizures syndrome 2
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Subtype of:
Multiple congenital anomalies
·
Multiple congenital anomalies-hypotonia-seizures syndrome
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(one row per gene, with all of its disease terms together)
Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
MCAHS2
MONDO_0010466
PIGA
Unknown
22305531
Open Targets
Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Metabolic pathways
Synthesis of glycosylphosphatidylinositol (GPI)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
MONDO_0010466
PIGA
Causal
27604308
25885527
22305531
29656098
24259288
24706016
26993267
34875027
26545172
24259184
Open Targets
Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Metabolic pathways
Synthesis of glycosylphosphatidylinositol (GPI)
All
1
Causal
1
Unknown
1
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Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
1
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Multiple congenital anomalies-hypotonia-seizures syndrome
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Related via 1 shared gene including PIGA.
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1
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