Chediak-higashi syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Attenuated Chediak-Higashi syndrome
C4304022MONDO:0018133352723
LYST Unknown
23521865
Disgenet, GWAS catalog, Orphanet —
Chediak-Higashi Syndrome
167214500C0007965MESH:D002609MONDO:0008963
LYST Causal
20368792 11857544 9215680 8896560 8751863 10482950 9215679 8751864
ClinVar, Orphanet, CTD, ClinGen, Disgenet, GWAS catalog, HPO —
SMCHD1 Causal — Disgenet —
All2 Causal2 Unknown1
Related Diseases Diseases that share the most curated genes with Chediak-higashi syndrome.
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Arhinia-choanal atresia-microphthalmia syndrome 1 shared geneSMCHD1 Related via 1 shared gene including SMCHD1. Bosma arhinia microphthalmia syndrome 1 shared geneSMCHD1 Related via 1 shared gene including SMCHD1. Facioscapulohumeral muscular dystrophy 1 shared geneSMCHD1 Related via 1 shared gene including SMCHD1. Facial nerve disorder 1 shared geneSMCHD1 Related via 1 shared gene including SMCHD1. Optic neuropathy 1 shared geneLYST Related via 1 shared gene including LYST.