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phelan-mcdermid syndrome
phelan-mcdermid syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Phelan-Mcdermid syndrome
SHANK3
Causal
17173049
17999366
18615476
20385823
21378602
22892527
23612248
25646853
25931020
26045941
ClinGen
Glutamatergic synapse
All
1
Causal
1
Unknown
0
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
1
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22q13 monosomy syndrome
1 shared gene
SHANK3
Related via 1 shared gene including SHANK3.
22q13.3 deletion syndrome
1 shared gene
SHANK3
Related via 1 shared gene including SHANK3.
Arthritis
1 shared gene
SHANK3
Related via 1 shared gene including SHANK3.
Language development disorders
1 shared gene
SHANK3
Related via 1 shared gene including SHANK3.
Psychotic disorders
1 shared gene
SHANK3
Related via 1 shared gene including SHANK3.
1
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