Communities

Rare Disease pathways at WikiPathways

This page highlights WikiPathways content related to rare genetic human diseases, and is designed as a central organizing point for exploring, curating and expanding the collection of rare disease pathways. A rare or orphan disease is a disease which affects relatively few people. The exact definition varies between 1:1000 and 1:200.000. E.g. it can be 1:1500 (USA) , 1:2000 (EU) or 1:2500 (Japan). Rare diseases are mostly caused by genetic variation making them chronic and hard to cure. The severity depends on the affected gene and its physiological implications.

Community Pathways

This community helps to curate 83 pathways:


How to Contribute

If you know of a pathway that should be added, please contact the administrator (friederike.ehrhart[AT]gmail.com).

Support

This project has received funding from the European Union’s Horizon 2020 research and innovation programme (to the European Joint Programme on Rare Diseases and to ELIXIR) and the Netherlands Rett Expertise Centre.

Authors of Community Pathways

Friederike Ehrhart , Egon Willighagen , Kristina Hanspers , Marvin Martens , Denise Slenter , Victor Avramov , Maintenance bot , Lauren J. Dupuis , Magda M. Latorre , Ulas Babayigit , Eric Weitz , Olivier Traets , Finterly Hu , Eline Sanders , Irene Hemel , Nathan Salomonis , Thomas Kelder , Alex Pico , Jonathan Mlius , Lovnish Thakur , Susan Coort , Anders Riutta , Tyler Peryea , Martina Summer-Kutmon , Daniela Digles , Josien Landman , Britt Pieters , Eveline Schoenmaker , Ritchie Lee , Ingebude , Daniel Domingo-Fdez , Andra Waagmeester , Ado , Jesse Vercoulen , AAR&Co , Andika Tan , Nirupama Benis , Lora Simons , Laurent Winckers , Megi Kass , Elisson nl , Vanessa Sousa , Lars Willighagen , Yasmin Omar , Lobke Meels , Iulia Ioncu , Zoe Barois , Anna De Brouwer , Marijn Kerkhofs , Margit Janssen , Richard Delava , Ryan Miller , Anouk Wolters , Hermann Ritter , G. Keulen , Ann Friesacher , Conroy lipids , Bas Lahaije , Elisa Santarsiero , Kelly Janssen , Lot Van De Wouw , Roel Hacking , Max Van Son , Amy Kutmon , Je G , Youssef Walid , Rik Lahaije , Agustin Gonzalez-Vicente , Mzolisi Mtshaulana , and Lisa Martina Held .