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Au-kline syndrome
Au-kline syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
AU-KLINE SYNDROME
C4225274
ATP7A
Unknown
—
Disgenet
Platinum drug resistance
Mineral absorption
Ion influx/efflux at host-pathogen interface
Ion transport by P-type ATPases
+1 more
VHL
Unknown
—
Disgenet
HIF-1 signaling pathway
Ubiquitin mediated proteolysis
Pathways in cancer
Renal cell carcinoma
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
SUMOylation of ubiquitinylation proteins
Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
+5 more
All
3
Causal
1
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
2
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Related Diseases
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5
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X-linked distal spinal muscular atrophy
1 shared gene
ATP7A
Related via 1 shared gene including ATP7A.
menkes disease
1 shared gene
ATP7A
Related via 1 shared gene including ATP7A.
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome
1 shared gene
HNRNPK
Related via 1 shared gene including HNRNPK.
Chuvash erythrocytosis
1 shared gene
VHL
Related via 1 shared gene including VHL.
Erythrocytosis due to tissue hypoxemia
1 shared gene
VHL
Related via 1 shared gene including VHL.
1
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