Kabuki syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
KABUKI SYNDROME
2322MESH:C537705MONDO:0016512
KMT2D Causal
20711175 21882399
CTD, GWAS catalog, Orphanet
KABUKI SYNDROME 1
147920MONDO:0007843
KDM6A Causal — ClinVar, HPO
KMT2D Causal
20711175 21607748 21671394 24739679 25142838 25944076 25972376 27302555 27530205 27573763 27991736 28295206 28404210 29283410 29321794 29482518 29914387 30569626 31179148 31282990 31446696 31935506 32948218 32953414 34487531 34675602 21658225 21280141 23913813 31846209 22126750 23320472
ClinGen, ClinVar, GenCC, HPO
KABUKI SYNDROME 2
300867C3275495MONDO:0010465
KDM6A Causal
22197486 23076834 24527667 24664873 30509212 33674768
ClinGen, ClinVar, Disgenet, HPO
All9 Causal2 Unknown9
Related Diseases Diseases that share the most curated genes with Kabuki syndrome.
5 View disease cluster →
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 shared genesDNMT3B, ZBTB24 Related via 2 shared genes including DNMT3B, ZBTB24. Rubinstein-taybi syndrome 2 shared genesKMT2D, KMT2A Related via 2 shared genes including KMT2D, KMT2A. Charge syndrome 2 shared genesKMT2D, KDM6A Related via 2 shared genes including KMT2D, KDM6A. Branchial arch abnormalities syndrome 1 shared geneKMT2D Related via 1 shared gene including KMT2D. Branchial cleft anomalies 1 shared geneKMT2D Related via 1 shared gene including KMT2D.