Smith-magenis syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
SMITH-MAGENIS SYNDROME
182290819C0795864MESH:D058496MONDO:0008434
RAI1 Causal
12652298 15565467 15788730 17041942 21739587 21857958 24715852 25781356 27311559 29794985 34089220 35373511 35821519 35833697 37756600 15459175 15746153 16845274 17273973 17517686 18285828 19116176 19236431 19752160 20691
CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO, Orphanet —
SMS Causal — Disgenet
IQSEC2 Unknown
28213671
Orphanet
All3 Causal2 Unknown1
Related Diseases Diseases that share the most curated genes with Smith-magenis syndrome.
5 View disease cluster →
syndromic X-linked intellectual disability Snyder type 1 shared geneSMS Related via 1 shared gene including SMS. 17p11.2 microduplication syndrome 1 shared geneRAI1 Related via 1 shared gene including RAI1. Potocki-lupski syndrome 1 shared geneRAI1 Related via 1 shared gene including RAI1. Specific learning disability 1 shared geneIQSEC2 Related via 1 shared gene including IQSEC2. Growth disorder 1 shared geneRAI1 Related via 1 shared gene including RAI1.