Birk-barel syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME
C2676770MESH:C567357
KCNK9 Unknown — CTD, Disgenet
TRPM3 Unknown — Disgenet
BIRK-BAREL SYNDROME
166108612292MONDO:0012856
KCNK9 Causal
15178438 15781965 17704508 17875609 18678320 23236211 24342771 27151206 30690205
CTD, ClinVar, HPO, Orphanet
All2 Causal1 Unknown2
Related Diseases Diseases that share the most curated genes with Birk-barel syndrome.
5 View disease cluster →
cataract 50 with or without glaucoma 1 shared geneTRPM3 Related via 1 shared gene including TRPM3. Cataract-glaucoma syndrome 1 shared geneTRPM3 Related via 1 shared gene including TRPM3. Mulibrey nanism 1 shared geneTRPM3 Related via 1 shared gene including TRPM3. Absence epilepsy 1 shared geneKCNK9 Related via 1 shared gene including KCNK9. Stomach disease 1 shared geneTRPM3 Related via 1 shared gene including TRPM3.