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Smith-magenis syndrome
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
182290
819
C0795864
MESH:D058496
MONDO: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
Cysteine and methionine metabolism
Arginine and proline metabolism
Glutathione metabolism
Metabolic pathways
Metabolism of polyamines
+2 more
All
3
Causal
2
Unknown
1
Select all
Clear
ClinVar
1
Orphanet
1
Disgenet
2
CTD
1
HPO
1
GWAS catalog
1
GenCC
0
ClinGen
1
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