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Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME
2255
MONDO:0010802
GATA6
Causal
22158542
8071961
22962692
ClinVar
,
Orphanet
Surfactant metabolism
Factors involved in megakaryocyte development and platelet production
GATA4
Unknown
27810688
24696446
20854389
GenCC
cGMP-PKG signaling pathway
Cellular senescence
Tight junction
Thyroid hormone signaling pathway
YAP1- and WWTR1 (TAZ)-stimulated gene expression
Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
Physiological factors
Factors involved in megakaryocyte development and platelet production
+5 more
All
2
Causal
1
Unknown
1
Select all
Clear
ClinVar
1
Orphanet
1
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
1
ClinGen
0
Related Diseases
Diseases that share the most curated genes with Pancreatic hypoplasia-diabetes-congenital heart disease syndrome.
5
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Yorifuji okuno syndrome
2 shared genes
GATA4, GATA6
Related via 2 shared genes including GATA4, GATA6.
Chromosome 8p23.1 monosomy
1 shared gene
GATA4
Related via 1 shared gene including GATA4.
Congenital pulmonary valve atresia
1 shared gene
GATA4
Related via 1 shared gene including GATA4.
Testicular anomaly with congenital heart disease
1 shared gene
GATA4
Related via 1 shared gene including GATA4.
GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes
1 shared gene
GATA4
Related via 1 shared gene including GATA4.
1
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