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Keppen-lubinsky syndrome
Keppen-lubinsky syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
KEPPEN LUBINSKY SYNDROME
C3279800
KCNJ6
Unknown
—
Disgenet
Circadian entrainment
Retrograde endocannabinoid signaling
Cholinergic synapse
Serotonergic synapse
GABAergic synapse
Dopaminergic synapse
Estrogen signaling pathway
Oxytocin signaling pathway
GnRH secretion
Morphine addiction
Activation of G protein gated Potassium channels
Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits
+9 more
MYH6
Unknown
—
Disgenet
cGMP-PKG signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Motor proteins
Cytoskeleton in muscle cells
Thyroid hormone signaling pathway
Hypertrophic cardiomyopathy
Dilated cardiomyopathy
Viral myocarditis
Striated Muscle Contraction
+7 more
KEPPEN-LUBINSKY SYNDROME
MONDO:0013572
MYH6
Unknown
10861362
15735645
19538634
2024777
20656787
22194935
22337856
25613900
29505555
29536580
29969989
31638415
34298581
34481090
GWAS catalog
cGMP-PKG signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Motor proteins
Cytoskeleton in muscle cells
Thyroid hormone signaling pathway
Hypertrophic cardiomyopathy
Dilated cardiomyopathy
Viral myocarditis
Striated Muscle Contraction
+7 more
All
2
Causal
1
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
2
CTD
0
HPO
0
GWAS catalog
1
GenCC
0
ClinGen
0
Related Diseases
Diseases that share the most curated genes with Keppen-lubinsky syndrome.
5
View disease cluster →
MYH-6 related congenital heart defects
1 shared gene
MYH6
Related via 1 shared gene including MYH6.
dilated cardiomyopathy 1EE
1 shared gene
MYH6
Related via 1 shared gene including MYH6.
Atrioventricular excitation abnormality
1 shared gene
MYH6
Related via 1 shared gene including MYH6.
Cardiac conduction disease
1 shared gene
MYH6
Related via 1 shared gene including MYH6.
Cholecystitis
1 shared gene
KCNJ6
Related via 1 shared gene including KCNJ6.
1
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