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Birk-barel syndrome
Birk-barel syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME
C2676770
MESH:C567357
KCNK9
Unknown
—
CTD
,
Disgenet
Aldosterone synthesis and secretion
TWIK-releated acid-sensitive K+ channel (TASK)
Phase 4 - resting membrane potential
TRPM3
Unknown
—
Disgenet
TRP channels
All
2
Causal
1
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
2
CTD
1
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
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Related via 1 shared gene including KCNK9.
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Related via 1 shared gene including TRPM3.
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