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Doors syndrome
Doors syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
DOORS SYNDROME
79500
MONDO:0009079
TBC1D24
Causal
24291220
ClinGen
,
ClinVar
,
Orphanet
TBC/RABGAPs
ATP6V1B2
Unknown
32873933
GWAS catalog
,
Orphanet
Oxidative phosphorylation
Metabolic pathways
Phagosome
mTOR signaling pathway
Synaptic vesicle cycle
Collecting duct acid secretion
Vibrio cholerae infection
Epithelial cell signaling in Helicobacter pylori infection
Human papillomavirus infection
Rheumatoid arthritis
ROS and RNS production in phagocytes
Insulin receptor recycling
Transferrin endocytosis and recycling
Amino acids regulate mTORC1
Ion channel transport
+12 more
All
2
Causal
1
Unknown
1
Select all
Clear
ClinVar
1
Orphanet
2
Disgenet
0
CTD
0
HPO
0
GWAS catalog
1
GenCC
0
ClinGen
1
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Deafness with congenital onychodystrophy
2 shared genes
TBC1D24, ATP6V1B2
Related via 2 shared genes including TBC1D24, ATP6V1B2.
Digitrenocerebral syndrome
2 shared genes
TBC1D24, ATP6V1B2
Related via 2 shared genes including TBC1D24, ATP6V1B2.
Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
1 shared gene
TBC1D24
Related via 1 shared gene including TBC1D24.
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
1 shared gene
TBC1D24
Related via 1 shared gene including TBC1D24.
Deafness-onychodystrophy syndrome
1 shared gene
ATP6V1B2
Related via 1 shared gene including ATP6V1B2.
1
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