VACTERL association

Summary
Definition
A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
Super Class
syndrome
Disease Ontology
DOID:14679
Mondo Disease Ontology
MeSH
UMLS
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
2335 FN1 fibronectin 1
5125 PCSK5 proprotein convertase subtilisin/kexin type 5
5768 QSOX1 quiescin sulfhydryl oxidase 1
6469 SHH sonic hedgehog signaling molecule
79659 DYNC2H1 dynein cytoplasmic 2 heavy chain 1
221322 TBC1D32 TBC1 domain family member 32
Displaying all 5 entries
Gene ID Gene Symbol Description Source
14268 Fn1 fibronectin 1
18552 Pcsk5 proprotein convertase subtilisin/kexin type 5
20423 Shh sonic hedgehog
104009 Qsox1 quiescin Q6 sulfhydryl oxidase 1
110350 Dync2h1 dynein cytoplasmic 2 heavy chain 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
29499 Shh sonic hedgehog signaling molecule
84491 Qsox1 quiescin sulfhydryl oxidase 1
116548 Pcsk5 proprotein convertase subtilisin/kexin type 5
Displaying all 2 entries
Gene ID Gene Symbol Description Source
32604 Fur2 Furin 2
36464 Qsox1 Quiescin sulfhydryl oxidase 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
173051 kpc-1 Furin-like protease kpc-1
180349 grd-2 Ground-like domain-containing protein
180638 wrt-6 Warthog protein 6 N-product
Displaying 1 entry
Gene ID Gene Symbol Description Source
855483 KEX2 kexin KEX2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024