Kleefstra syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
KLEEFSTRA SYNDROME
C4551771
KMT2C Unknown — Disgenet
KLEEFSTRA SYNDROME 1
C0795833
NR1I3 Unknown — Disgenet
PAEP Unknown — Disgenet —
KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION
96147
EHMT1 Unknown
20945554
Orphanet
KLEEFSTRA SYNDROME DUE TO A POINT MUTATION
261652C5680724
EHMT1 Unknown
20945554
Disgenet, Orphanet, ClinGen
All5 Causal3 Unknown4
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