Duane retraction syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
DUANE RETRACTION SYNDROME 2
604356MONDO:0011444
CHN1 Causal
18653847 21555619 21715346
ClinGen, ClinVar, GWAS catalog, HPO
DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS
617041C4310752MONDO:0014880
MAFB Causal
27181683 34964110
ClinVar, Disgenet, GWAS catalog, HPO
All12 Causal2 Unknown12
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Dominant dystrophic epidermolysis bullosa with absence of skin 1 shared geneCOL7A1 Related via 1 shared gene including COL7A1. Dominant dystrophic epidermolysis bullosa, albopapular type 1 shared geneCOL7A1 Related via 1 shared gene including COL7A1. Osteochondroma 1 shared genePTPN11 Related via 1 shared gene including PTPN11. Osteolysis, hereditary, of carpal bones with or without nephropathy 1 shared geneMAFB Related via 1 shared gene including MAFB. Blepharophimosis-ptosis-epicanthus inversus syndrome 1 shared geneFOXL2 Related via 1 shared gene including FOXL2.