Heimler syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
HEIMLER SYNDROME 1
234580C4551980MONDO:0024544
PEX1 Causal
26387595 10636745
ClinVar, Disgenet, HPO
HEIMLER SYNDROME 2
616617C4225267MONDO:0014709
PEX6 Causal
29676688
ClinVar, Disgenet, HPO, Orphanet
All4 Causal2 Unknown3
Related Diseases Diseases that share the most curated genes with Heimler syndrome.
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Deafness enamel hypoplasia nail defects 2 shared genesPEX6, PEX1 Related via 2 shared genes including PEX6, PEX1. Deafness-enamel hypoplasia-nail defects syndrome 2 shared genesPEX6, PEX1 Related via 2 shared genes including PEX6, PEX1. Spinocerebellar ataxia blindness deafness syndrome 1 shared genePEX6 Related via 1 shared gene including PEX6. Zellweger spectrum disorder 3 shared genesPEX6, PEX1, PEX26 Related via 3 shared genes including PEX6, PEX1, PEX26. dilated cardiomyopathy 2B 1 shared geneGATAD1 Related via 1 shared gene including GATAD1.