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Nabais sa-de vries syndrome 1
Nabais sa-de vries syndrome 1
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Show by gene
(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
Nabais Sa-de Vries syndrome 1
MONDO_0032942
SPOP
Unknown
32109420
Open Targets
Hedgehog signaling pathway
Hedgehog 'on' state
Nabais Sa-de Vries syndrome, type 1
MONDO_0032942
SPOP
Unknown
32109420
Open Targets
Hedgehog signaling pathway
Hedgehog 'on' state
All
1
Causal
0
Unknown
1
Select all
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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Neurodevelopmental disorder with microcephaly and dysmorphic facies
1 shared gene
SPOP
Related via 1 shared gene including SPOP.
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
1 shared gene
SPOP
Related via 1 shared gene including SPOP.
Neurodevelopmental disorder, gain of function
1 shared gene
SPOP
Related via 1 shared gene including SPOP.
Nabais sa-de vries syndrome 2
1 shared gene
SPOP
Related via 1 shared gene including SPOP.
Ductal carcinoma
1 shared gene
SPOP
Related via 1 shared gene including SPOP.
1
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