Knobloch syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
KNOBLOCH SYNDROME
C1849409
ADAMTS18 Unknown — Disgenet
SLC19A1 Unknown — Disgenet
KNOBLOCH SYNDROME TYPE II
C1838009
PAK2 Unknown — Disgenet
KNOBLOCH SYNDROME, TYPE I
C4551775
COL18A1 Unknown
10942434 12415512 19390655 25456301 27259167 28602933
Disgenet
SLC19A1 Unknown — Disgenet
All4 Causal2 Unknown4
Related Diseases Diseases that share the most curated genes with Knobloch syndrome.
5 View disease cluster →
microcornea-myopic chorioretinal atrophy 1 shared geneADAMTS18 Related via 1 shared gene including ADAMTS18. immunodeficiency 114, folate-responsive 1 shared geneSLC19A1 Related via 1 shared gene including SLC19A1. Discordant ventriculoarterial connection 1 shared geneSLC19A1 Related via 1 shared gene including SLC19A1. Transposition of the great arteries 1 shared geneSLC19A1 Related via 1 shared gene including SLC19A1. Megaloblastic anemia 1 shared geneSLC19A1 Related via 1 shared gene including SLC19A1.