Charge syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
CHARGE SYNDROME
C0265354
KDM6A Unknown — Disgenet
WDR11 Unknown — Disgenet —
FAMILIAL CHARGE SYNDROMES
C2936502
CHD7 Unknown
15300250 16118347 16155193 16169932 16400610 16615981 16763960 16960397 17334995 17661815 17937444 18073582 18074359 18445044 18472328 18484313 18505430 18834967 18978652 19021638 19159393 19248844 20052490 20186815 20624498 20943277 21041284 21158681
Disgenet, ClinGen —
All9 Causal7 Unknown3
Related Diseases Diseases that share the most curated genes with Charge syndrome.
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Choanal atresia syndrome 2 shared genesKMT2D, CHD7 Related via 2 shared genes including KMT2D, CHD7. Rubinstein-taybi syndrome 2 shared genesKMT2D, EP300 Related via 2 shared genes including KMT2D, EP300. Kabuki syndrome 2 shared genesKMT2D, KDM6A Related via 2 shared genes including KMT2D, KDM6A. 8q24.3 microdeletion syndrome 1 shared genePUF60 Related via 1 shared gene including PUF60. Intellectual developmental disorder dysmorphic cardiac short stature 1 shared genePUF60 Related via 1 shared gene including PUF60.