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11p11.2 deletion syndrome
11p11.2 deletion syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
CHROMOSOME 11P11.2 DELETION SYNDROME
C1832588
ALX4
Unknown
—
Disgenet
—
EXT2
Unknown
—
Disgenet
Glycosaminoglycan biosynthesis - heparan sulfate / heparin
Metabolic pathways
HS-GAG biosynthesis
Defective EXT2 causes exostoses 2
Defective EXT1 causes exostoses 1, TRPS2 and CHDS
+2 more
PHF21A
Unknown
—
Disgenet
HDACs deacetylate histones
Factors involved in megakaryocyte development and platelet production
All
3
Causal
0
Unknown
3
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
3
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Related Diseases
Diseases that share the most curated genes with 11p11.2 deletion syndrome.
5
View disease cluster →
Potocki-shaffer syndrome
3 shared genes
ALX4, EXT2, PHF21A
Related via 3 shared genes including ALX4, EXT2, PHF21A.
Frontonasal dysplasia with alopecia and genital anomaly
1 shared gene
ALX4
Related via 1 shared gene including ALX4.
Seizures, scoliosis, and macrocephaly/microcephaly syndrome
1 shared gene
EXT2
Related via 1 shared gene including EXT2.
exostoses, multiple, type 2
1 shared gene
EXT2
Related via 1 shared gene including EXT2.
Intellectual developmental disorder behavioral dysmorphic
1 shared gene
PHF21A
Related via 1 shared gene including PHF21A.
1
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