mednik syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
MEDNIK syndrome
AP1S1 Causal
19057675
ClinGen
All1 Causal1 Unknown0
Related Diseases Diseases that share the most curated genes with mednik syndrome.
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Intrahepatic cholestasis 1 shared geneAP1S1 Related via 1 shared gene including AP1S1. Erythrokeratodermia variabilis 1 shared geneAP1S1 Related via 1 shared gene including AP1S1. Lipidoses 1 shared geneAP1S1 Related via 1 shared gene including AP1S1. Lipoidosis 1 shared geneAP1S1 Related via 1 shared gene including AP1S1. Cholelithiasis 1 shared geneAP1S1 Related via 1 shared gene including AP1S1.