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
616580C4225274MONDO:0014700OMIM:616580
HNRNPK Causal
29904177 30998304
CTD, ClinVar, Disgenet, GWAS catalog, HPO
ATP7A Unknown — Disgenet
VHL Unknown — Disgenet
All3 Causal1 Unknown2
Related Diseases Diseases that share the most curated genes with Au-kline syndrome.
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X-linked distal spinal muscular atrophy 1 shared geneATP7A Related via 1 shared gene including ATP7A. menkes disease 1 shared geneATP7A Related via 1 shared gene including ATP7A. neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome 1 shared geneHNRNPK Related via 1 shared gene including HNRNPK. Chuvash erythrocytosis 1 shared geneVHL Related via 1 shared gene including VHL. Erythrocytosis due to tissue hypoxemia 1 shared geneVHL Related via 1 shared gene including VHL.