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Cutis marmorata telangiectatica congenita
Cutis marmorata telangiectatica congenita
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
CUTIS MARMORATA TELANGIECTATICA CONGENITA
1556
C0345419
ARL6IP6
Unknown
25957586
Orphanet
—
GNA11
Unknown
35351629
Disgenet
,
Orphanet
Calcium signaling pathway
cGMP-PKG signaling pathway
Hormone signaling
Vascular smooth muscle contraction
Gap junction
Cholinergic synapse
Long-term depression
Insulin secretion
GnRH signaling pathway
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
Parathyroid hormone synthesis, secretion and action
GnRH secretion
Cushing syndrome
Growth hormone synthesis, secretion and action
Chagas disease
Amoebiasis
Human cytomegalovirus infection
Human immunodeficiency virus 1 infection
Pathways in cancer
Acetylcholine regulates insulin secretion
G alpha (q) signalling events
ADP signalling through P2Y purinoceptor 1
Thromboxane signalling through TP receptor
Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion
Thrombin signalling through proteinase activated receptors (PARs)
+23 more
All
2
Causal
0
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
2
Disgenet
1
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
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Congenital hemangioma
1 shared gene
GNA11
Related via 1 shared gene including GNA11.
Anastomosing haemangioma
1 shared gene
GNA11
Related via 1 shared gene including GNA11.
Capillary malformation
1 shared gene
GNA11
Related via 1 shared gene including GNA11.
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
1 shared gene
GNA11
Related via 1 shared gene including GNA11.
Hypocalciuric hypercalcemia
1 shared gene
GNA11
Related via 1 shared gene including GNA11.
1
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