Publications:

---

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: CHST6: 609C>A; Asp203Glu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family.

Annals Of Translational Medicine

Huang, Yanxia Y; Yuan, Lamei L; Cao, Yanna Y; Tang, Renhong R; Xu, Hongbo H; Tang, Ziqian Z; Deng, Hao H

Publication Date: 2021-04

Variant appearance in text: CHST6: D203E

PubMed Link: 33987320

Variant Present in the following documents:

• atm-09-08-622.pdf

View BVdb publication page

---

A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy.

Aging

Zhang, Jing J; Wu, Dan D; Li, Yue Y; Fan, Yidan Y; Dai, Yiqin Y; Xu, Jianjiang J

Publication Date: 2019-02-04

Variant appearance in text: CHST6: 609C>A; Asp203Glu

PubMed Link: 30716718

Variant Present in the following documents:

• aging-11-101807-s002.xlsx, sheet 1

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs28937878

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CHST6: D203E

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

---

The IC3D classification of the corneal dystrophies.

Cornea

Weiss, Jayne S JS; Møller, H U HU; Lisch, Walter W; Kinoshita, Shigeru S; Aldave, Anthony J AJ; Belin, Michael W MW; Kivelä, Tero T; Busin, Massimo M; Munier, Francis L FL; Seitz, Berthold B; Sutphin, John J; Bredrup, Cecilie C; Mannis, Mark J MJ; Rapuano, Christopher J CJ; Van Rij, Gabriel G; Kim, Eung Kweon EK; Klintworth, Gordon K GK

Publication Date: 2008-12

Variant appearance in text: CHST6: 609C>A

PubMed Link: 19337156

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy.

Molecular Vision

Birgani, Shiva Akbari SA; Salehi, Zivar Z; Houshmand, Masoud M; Mohamadi, Mohamad Javad MJ; Promehr, Leila Azizade LA; Mozafarzadeh, Zahra Z

Publication Date: 2009

Variant appearance in text: CHST6: 609C>A; D203E

PubMed Link: 19223992

Variant Present in the following documents:

• Main text
• mv-v15-373.pdf

View BVdb publication page

---

PANTHER: a library of protein families and subfamilies indexed by function.

Genome Research

Thomas, Paul D PD; Campbell, Michael J MJ; Kejariwal, Anish A; Mi, Huaiyu H; Karlak, Brian B; Daverman, Robin R; Diemer, Karen K; Muruganujan, Anushya A; Narechania, Apurva A

Publication Date: 2003-09

Variant appearance in text: CHST6: D203E

PubMed Link: 12952881

Variant Present in the following documents:

• Main text

View BVdb publication page

---