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Saldino-mainzer syndrome
Saldino-mainzer syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
SALDINO-MAINZER SYNDROME
140969
IFT140
Causal
22503633
ClinVar
,
Orphanet
Hedgehog 'off' state
Intraflagellar transport
IFT172
Unknown
24140113
Orphanet
Hedgehog 'off' state
Intraflagellar transport
All
2
Causal
1
Unknown
1
Select all
Clear
ClinVar
1
Orphanet
2
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Related Diseases
Diseases that share the most curated genes with Saldino-mainzer syndrome.
5
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Mainzer-saldino disease
2 shared genes
IFT140, IFT172
Related via 2 shared genes including IFT140, IFT172.
IFT140-related recessive ciliopathy
1 shared gene
IFT140
Related via 1 shared gene including IFT140.
Axenfeld-rieger syndrome
1 shared gene
IFT140
Related via 1 shared gene including IFT140.
autosomal dominant polycystic kidney disease
1 shared gene
IFT140
Related via 1 shared gene including IFT140.
Craniodiaphyseal dysplasia
1 shared gene
IFT140
Related via 1 shared gene including IFT140.
1
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