Immunodeficiency-centromeric instability-facial anomalies syndrome 1

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Subtype of: Immunodeficiency · Immunodeficiency-centromeric instability-facial anomalies syndrome
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
MONDO_0000133
DNMT3B Causal
10555141 10588719 10647011 11102980 12239717 15580563 21120685 27734333
ClinGen, Open Targets
All1 Causal1 Unknown0
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Facioscapulohumeral muscular dystrophy 1 shared geneDNMT3B Related via 1 shared gene including DNMT3B. Immunodeficiency-centromeric instability-facial anomalies syndrome 1 shared geneDNMT3B Related via 1 shared gene including DNMT3B. Kabuki syndrome 1 shared geneDNMT3B Related via 1 shared gene including DNMT3B. Female infertility 1 shared geneDNMT3B Related via 1 shared gene including DNMT3B. Dyslexia 1 shared geneDNMT3B Related via 1 shared gene including DNMT3B.