Medical Research Institute (Tokyo Medical and Dental University), TMDU_MRI
General information
Medical Research Institute, TMDU_MRI
Tokyo Medical and Dental University
1-5-45 Yushima
Bunkyo-ku
Tokyo
Japan - 113-8510
http://www.tmd.ac.jp/
Organization ID: 505721
Tokyo Medical and Dental University
1-5-45 Yushima
Bunkyo-ku
Tokyo
Japan - 113-8510
http://www.tmd.ac.jp/
Organization ID: 505721
Personnel
- Fuyuki Miya, Principal Investigator
Phone: +81-3-5803-4169
Email: miya@src.riken.jp - Tatsuhiko Tsunoda
Phone: +81-45-053-9556
Email: tsunoda@src.riken.jp
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 129
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCF1 | 1 | Apr 16, 2015 |
| AKAP8 | 1 | Apr 16, 2015 |
| AKAP9 | 2 | Apr 16, 2015 |
| ANK2 | 4 | Apr 16, 2015 |
| ANKRD31 | 1 | Apr 16, 2015 |
| ARHGAP22 | 1 | Apr 16, 2015 |
| ARL13B | 1 | Apr 16, 2015 |
| ARVCF | 1 | Apr 16, 2015 |
| ASPM | 1 | Sep 15, 2014 |
| ATL3 | 1 | Apr 16, 2015 |
| BAIAP3 | 1 | Apr 16, 2015 |
| CAV3 | 1 | Apr 16, 2015 |
| CCDC168 | 1 | Apr 16, 2015 |
| CCN3 | 1 | Apr 16, 2015 |
| CD276 | 1 | Apr 16, 2015 |
| CELSR1 | 1 | Apr 16, 2015 |
| CIT | 2 | Apr 16, 2015 |
| CTRL | 1 | Apr 16, 2015 |
| DIP2A | 1 | Apr 16, 2015 |
| DNA2 | 1 | Apr 16, 2015 |
| ELMOD2 | 1 | Apr 16, 2015 |
| ERAP1 | 1 | Apr 16, 2015 |
| FGF2 | 1 | Apr 16, 2015 |
| FSIP2 | 1 | Apr 16, 2015 |
| FSIP2-AS1 | 1 | Apr 16, 2015 |
| GNPDA2 | 1 | Apr 16, 2015 |
| GPATCH2 | 1 | Apr 16, 2015 |
| GUF1 | 1 | Apr 16, 2015 |
| HK3 | 1 | Apr 16, 2015 |
| HKDC1 | 1 | Apr 16, 2015 |
| HNRNPM | 1 | Apr 16, 2015 |
| INSR | 5 | Jul 23, 2018 |
| INTS8 | 1 | Apr 16, 2015 |
| KCNE1 | 1 | Apr 16, 2015 |
| KCNH2 | 3 | Apr 16, 2015 |
| KCNQ1 | 4 | Apr 16, 2015 |
| KIF11 | 1 | Apr 16, 2015 |
| KIF21B | 2 | Apr 16, 2015 |
| KLRG1 | 1 | Apr 16, 2015 |
| LMNA | 1 | Jul 23, 2018 |
| LOC109113863 | 1 | Apr 16, 2015 |
| LOC126806068 | 1 | Apr 16, 2015 |
| LOC126807136 | 1 | Apr 16, 2015 |
| LOC129931597 | 1 | Jul 23, 2018 |
| LOC130004408 | 1 | Apr 16, 2015 |
| LRBA | 1 | Apr 16, 2015 |
| LRRC8E | 1 | Apr 16, 2015 |
| MC4R | 1 | Jul 23, 2018 |
| MDN1 | 1 | Apr 16, 2015 |
| MKI67 | 1 | Apr 16, 2015 |
| MYBPHL | 1 | Apr 16, 2015 |
| MYLK4 | 1 | Apr 16, 2015 |
| NET1 | 1 | Apr 16, 2015 |
| NLRP13 | 1 | Apr 16, 2015 |
| NLRX1 | 1 | Apr 16, 2015 |
| NOS1AP | 2 | Apr 16, 2015 |
| NR5A2 | 1 | Apr 16, 2015 |
| NRIP1 | 1 | Apr 16, 2015 |
| PI4KA | 2 | Apr 16, 2015 |
| PIK3CG | 1 | Apr 16, 2015 |
| PKD1L2 | 1 | Apr 16, 2015 |
| PLCB4 | 1 | Apr 16, 2015 |
| POLRMT | 1 | Apr 16, 2015 |
| PROKR1 | 1 | Apr 16, 2015 |
| PRSS12 | 1 | Apr 16, 2015 |
| PRSS57 | 1 | Apr 16, 2015 |
| PTOV1 | 1 | Apr 16, 2015 |
| PTOV1-AS2 | 1 | Apr 16, 2015 |
| PZP | 1 | Apr 16, 2015 |
| RALGAPA1 | 1 | Apr 16, 2015 |
| REM1 | 1 | Apr 16, 2015 |
| RIMS1 | 1 | Apr 16, 2015 |
| RTEL1-TNFRSF6B | 1 | Apr 16, 2015 |
| RYR2 | 9 | Apr 16, 2015 |
| SCN5A | 1 | Apr 16, 2015 |
| SDC1 | 1 | Apr 16, 2015 |
| SHANK3 | 1 | Apr 16, 2015 |
| SIDT1 | 1 | Apr 16, 2015 |
| SIRT6 | 1 | Apr 16, 2015 |
| SLC2A5 | 1 | Apr 16, 2015 |
| SLC6A17 | 1 | Apr 16, 2015 |
| SNAPC4 | 1 | Apr 16, 2015 |
| SNAPC5 | 1 | Apr 16, 2015 |
| SND1 | 1 | Apr 16, 2015 |
| SNTA1 | 1 | Apr 16, 2015 |
| SSUH2 | 1 | Apr 16, 2015 |
| STK32B | 1 | Apr 16, 2015 |
| SYK | 1 | Apr 16, 2015 |
| TBC1D4 | 1 | Jul 23, 2018 |
| TCTN3 | 1 | Apr 16, 2015 |
| TDRD6 | 1 | Apr 16, 2015 |
| TGFBRAP1 | 1 | Apr 16, 2015 |
| TLNRD1 | 1 | Apr 16, 2015 |
| TNFRSF6B | 1 | Apr 16, 2015 |
| TOP2A | 1 | Apr 16, 2015 |
| TRHDE | 1 | Apr 16, 2015 |
| TRMU | 1 | Apr 16, 2015 |
| UBR4 | 4 | Apr 16, 2015 |
| UBR5 | 2 | Apr 16, 2015 |
| UBR7 | 1 | Apr 16, 2015 |
| UPP1 | 1 | Apr 16, 2015 |
| USP19 | 1 | Apr 16, 2015 |
| VSX1 | 1 | Apr 16, 2015 |
| WDR25 | 1 | Apr 16, 2015 |
| WDR26 | 2 | Apr 16, 2015 |
| WWC2 | 1 | Apr 16, 2015 |
| YME1L1 | 1 | Apr 16, 2015 |
| ZNF174 | 1 | Apr 16, 2015 |
| ZNF341 | 1 | Apr 16, 2015 |
| ZNF341-AS1 | 1 | Apr 16, 2015 |
| ZNF862 | 1 | Apr 16, 2015 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Insulin resistance | 2 | Jul 23, 2018 |
| Insulin-resistant diabetes mellitus AND acanthosis nigricans | 1 | Dec 19, 2016 |
| Leprechaunism syndrome | 1 | Dec 19, 2016 |
| Lipodystrophy | 1 | Jul 23, 2018 |
| Long QT syndrome | 120 | Apr 16, 2015 |
| Microcephaly 5, primary, autosomal recessive | 1 | Sep 15, 2014 |
| Obesity | 1 | Jul 23, 2018 |
| Rabson-Mendenhall syndrome | 2 | Dec 19, 2016 |