The Center for Pediatric Liver Diseases (Children’s Hospital of Fudan University), CLD
General information
Personnel
- Kuerbanjiang Abuduxikuer
Phone: 008618817945722
Email: kurbanjanmph@sina.com - Zhongdie Li, Staff
Phone: +86-21-64931171
Email: lizhongdie@163.com - Li Wang, Staff
Phone: 18800239636
Email: wandli518@163.com - Jing Zhang, Staff
Phone: 86-15989274490
Email: xinyu001007@163.com - Jing Zhang, Staff
Phone: 86-021-64931171
Email: jingzhangips@fudan.edu.cn
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 31
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Alagille syndrome due to a JAG1 point mutation | 1 | Oct 12, 2022 |
| COG6-ongenital disorder of glycosylation | 2 | Apr 7, 2023 |
| Cholestasis | 10 | Oct 15, 2019 |
| Cholestasis, progressive familial intrahepatic, (PFIC4-like) | 1 | Nov 4, 2019 |
| Cholestasis, progressive familial intrahepatic, 4 | 13 | Nov 4, 2019 |
| Progressive familial intrahepatic cholestasis type 1 | 4 | Aug 10, 2021 |