visceral heterotaxy
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 93 | ACVR2B | activin A receptor type 2B | |
| 2657 | GDF1 | growth differentiation factor 1 | |
| 4838 | NODAL | nodal growth differentiation factor | |
| 55997 | CFC1 | cryptic, EGF-CFC family member 1 | |
| 118856 | MMP21 | matrix metallopeptidase 21 | |
| 168507 | PKD1L1 | polycystin 1 like 1, transient receptor potential channel interacting | |
| 220136 | CFAP53 | cilia and flagella associated protein 53 | |
| 653275 | CFC1B | cryptic, EGF-CFC family member 1B |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 11481 | Acvr2b | activin receptor IIB | |
| 12627 | Cfc1 | cryptic, EGF-CFC family member 1 | |
| 13411 | Dnah11 | dynein, axonemal, heavy chain 11 | |
| 18552 | Pcsk5 | proprotein convertase subtilisin/kexin type 5 | |
| 20563 | Slit2 | slit guidance ligand 2 | |
| 22773 | Zic3 | zinc finger protein of the cerebellum 3 | |
| 68922 | Dnai1 | dynein axonemal intermediate chain 1 | |
| 110082 | Dnah5 | dynein, axonemal, heavy chain 5 | |
| 214766 | Mmp21 | matrix metallopeptidase 21 | |
| 216274 | Cep290 | centrosomal protein 290 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P0CG36 | Cryptic family protein 1B | |
| P0CG37 | Cryptic protein | |
| P27539 | Embryonic growth/differentiation factor 1 | |
| Q13705 | Activin receptor type-2B | |
| Q8N119 | Matrix metalloproteinase-21 | |
| Q8TDX9 | Polycystin-1-like protein 1 | |
| Q96M91 | Cilia- and flagella-associated protein 53 | |
| Q96S42 | Nodal homolog |
| UniProt ID | Protein Name | Source |
|---|---|---|
| E9Q7N9 | Dynein, axonemal, heavy chain 11 | |
| P27040 | Activin receptor type-2B | |
| P60882 | Multiple epidermal growth factor-like domains protein 8 | |
| P97766 | Cryptic protein | |
| Q04592 | Proprotein convertase subtilisin/kexin type 5 | |
| Q3USS3 | Dynein regulatory complex protein 1 | |
| Q62521 | Zinc finger protein ZIC 3 | |
| Q6A078 | Centrosomal protein of 290 kDa | |
| Q8BPJ0 | LRRNT domain-containing protein | |
| Q8BR76 | Meckelin |
| HPO ID | HPO Term |
|---|---|
| HP:0001696 | Situs inversus totalis |
| HP:0003363 | Abdominal situs inversus |
| HP:0003577 | Congenital onset |
| HP:0001669 | Transposition of the great arteries |
| HP:0011599 | Mesocardia |
| HP:0001748 | Polysplenia |
| HP:0001719 | Double outlet right ventricle |
| HP:0002566 | Intestinal malrotation |
| HP:0001746 | Asplenia |
| HP:0000006 | Autosomal dominant inheritance |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 4, 2025