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Pendred syndrome
Pendred syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
PENDRED SYNDROME
274600
705
MESH:C536648
MONDO:0010134
KCNJ10
Causal
20301640
CTD
,
ClinVar
,
GWAS catalog
,
HPO
,
Orphanet
Gastric acid secretion
Huntington disease
Activation of G protein gated Potassium channels
Potassium transport channels
Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits
+2 more
SLC26A4
Causal
10644529
17697873
20301640
CTD
,
ClinGen
,
ClinVar
,
GenCC
,
HPO
,
Orphanet
Thyroid hormone synthesis
Multifunctional anion exchangers
Defective SLC26A4 causes Pendred syndrome (PDS)
All
7
Causal
2
Unknown
7
Select all
Clear
ClinVar
2
Orphanet
2
Disgenet
0
CTD
2
HPO
2
GWAS catalog
1
GenCC
1
ClinGen
1
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Related via 1 shared gene including KCNJ10.
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1
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