Doyne honeycomb retinal dystrophy

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
DOYNE HONEYCOMB RETINAL DYSTROPHY
126600C1832174MESH:C535602MONDO:0007471
EFEMP1 Causal
10369267 17666404 30541486 23036572 16799055
CTD, ClinGen, ClinVar, Disgenet, HPO, Orphanet
PRPH2 Causal — Disgenet —
CFH Unknown
18252232
Disgenet, GWAS catalog
CFI Unknown
25986072
Disgenet
All4 Causal2 Unknown2
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Thrombotic microangiopathy 2 shared genesCFI, CFH Related via 2 shared genes including CFI, CFH. Atypical hemolytic uremic syndrome 2 shared genesCFI, CFH Related via 2 shared genes including CFI, CFH. PRPH2-related retinopathy 1 shared genePRPH2 Related via 1 shared gene including PRPH2. Factor i deficiency 1 shared geneCFI Related via 1 shared gene including CFI. Congenital hernia of foramen of bochdalek 1 shared geneEFEMP1 Related via 1 shared gene including EFEMP1.