CTSZ c.308-1809A>G

Variant ID: 20-57578508-T-C

NM_001336.3(CTSZ):c.308-1809A>G

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Integrating convolution and self-attention improves language model of human genome for interpreting non-coding regions at base-resolution.

Nucleic Acids Research
Yang, Meng M; Huang, Lichao L; Huang, Haiping H; Tang, Hui H; Zhang, Nan N; Yang, Huanming H; Wu, Jihong J; Mu, Feng F
Publication Date: 2022-08-12

Variant appearance in text: rs163800
PubMed Link: 35536244
Variant Present in the following documents:
  • Main text
  • gkac326.pdf
View BVdb publication page



Increased expression and altered localization of cathepsin Z are associated with progression to jaundice stage in primary biliary cholangitis.

Scientific Reports
Aiba, Yoshihiro Y; Harada, Kenichi K; Ito, Masahiro M; Suematsu, Takashi T; Aishima, Shinichi S; Hitomi, Yuki Y; Nishida, Nao N; Kawashima, Minae M; Takatsuki, Mitsuhisa M; Eguchi, Susumu S; Shimoda, Shinji S; Nakamura, Hitomi H; Komori, Atsumasa A; Abiru, Seigo S; Nagaoka, Shinya S; Migita, Kiyoshi K; Yatsuhashi, Hiroshi H; Tokunaga, Katsushi K; Nakamura, Minoru M
Publication Date: 2018-08-07

Variant appearance in text: rs163800
PubMed Link: 30087368
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_30146.pdf
View BVdb publication page



NELFCD and CTSZ loci are associated with jaundice-stage progression in primary biliary cholangitis in the Japanese population.

Scientific Reports
Nishida, Nao N; Aiba, Yoshihiro Y; Hitomi, Yuki Y; Kawashima, Minae M; Kojima, Kaname K; Kawai, Yosuke Y; Ueno, Kazuko K; Nakamura, Hitomi H; Yamashiki, Noriyo N; Tanaka, Tomohiro T; Tamura, Sumito S; Mori, Akira A; Yagi, Shintaro S; Soejima, Yuji Y; Yoshizumi, Tomoharu T; Takatsuki, Mitsuhisa M; Tanaka, Atsushi A; Harada, Kenichi K; Shimoda, Shinji S; Komori, Atsumasa A; Eguchi, Susumu S; Maehara, Yoshihiko Y; Uemoto, Shinji S; Kokudo, Norihiro N; Nagasaki, Masao M; Tokunaga, Katsushi K; Nakamura, Minoru M
Publication Date: 2018-05-23

Variant appearance in text: rs163800
PubMed Link: 29795304
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_26369.pdf
View BVdb publication page



Genetic susceptibility to tuberculosis associated with cathepsin Z haplotype in a Ugandan household contact study.

Human Immunology
Baker, Allison R AR; Zalwango, Sarah S; Malone, LaShaunda L LL; Igo, Robert P RP; Qiu, Feiyou F; Nsereko, Mary M; Adams, Mark D MD; Supelak, Pamela P; Mayanja-Kizza, Harriet H; Boom, W Henry WH; Stein, Catherine M CM
Publication Date: 2011-05

Variant appearance in text: rs163800
PubMed Link: 21354459
Variant Present in the following documents:
  • Main text
View BVdb publication page