| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
|
|---|
| Disease |
| H00503 | Ellis-van Creveld syndrome |
| H02158 | Weyers acrofacial dysostosis |
|
|---|
| Reference |
|
|---|
| Authors |
Sasai N, Toriyama M, Kondo T |
|---|
| Title |
Hedgehog Signal and Genetic Disorders. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Ruiz-Perez VL, Goodship JA |
|---|
| Title |
Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. |
|---|
| Journal |
|
|---|
| LinkDB |
|
|---|
