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Joubert syndrome with or without jeune asphyxiating thoracic dystrophy
Joubert syndrome with or without jeune asphyxiating thoracic dystrophy
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Subtype of:
Jeune thoracic dystrophy
·
Joubert syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy
MONDO_0014288
CSPP1
Unknown
24360803
24360807
24360808
25997910
38586154
Open Targets
—
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
Related Diseases
Diseases that share the most curated genes with Joubert syndrome with or without jeune asphyxiating thoracic dystrophy.
5
View disease cluster →
Joubert syndrome 21
1 shared gene
CSPP1
Related via 1 shared gene including CSPP1.
Joubert syndrome with jeune asphyxiating thoracic dystrophy
1 shared gene
CSPP1
Related via 1 shared gene including CSPP1.
Dandy-walker syndrome
1 shared gene
CSPP1
Related via 1 shared gene including CSPP1.
Meckel-gruber syndrome
1 shared gene
CSPP1
Related via 1 shared gene including CSPP1.
Aplasia of the vermis
1 shared gene
CSPP1
Related via 1 shared gene including CSPP1.
1
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