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.

Contact

Friederike Ehrhart .

Community Pathways

Table Filters
This community helps to curate 120 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.

Community Members

Friederike Ehrhart .

Authors of Community Pathways

Friederike Ehrhart , Julivana , Egon Willighagen , Alex Pico , Eric Weitz , Esther Umwamikazi , Ash Iyer , Kristina Hanspers , JulietaCosta , Kieran Reidy , ElenaDR , Jolijn Hekma Wierda , Kay Veurink , Clarissa Falempin , Marvin Martens , Denise Slenter , Victor Avramov , Lauren J. Dupuis , Magda M. Latorre , Daria Shumkova , Pierre Klemmer , Rens Eikelboom , Tom Bausch , Javier Millán Acosta , Ulas Babayigit , Olivier Traets , Finterly Hu , Pauladewenter , Lars Willighagen , Tooba Abbassi-Daloii , Manon Van Der Pas , Edme Snijders , Eline Sanders , Irene Hemel , Nathan Salomonis , Thomas Kelder , Jonathan Mélius , Lovnish Thakur , Susan Coort , Daniela Digles , Anders Riutta , Tyler Peryea , Martina Summer-Kutmon , Susan M. Bachmann , Josien Landman , TheodorosZarotiadis , Britt Pieters , Eveline Schoenmaker , Ritchie Lee , Eveline Peterse , Ingebude , Leo Kalapurackal , Andra Waagmeester , Tim Zotti , Daniel Domingo-Fdez , Ado , Sam Drabbe , Amaury Pelzer , Maria van de Meent , Jesse Vercoulen , Enzo Chiaradia , Alexandra Bosch , Miriam Babukhian , Lea Doerner , Pepin Marshall , AAR&Co , Andika Tan , Nirupama Benis , Lora Simons , Laurent Winckers , Megi Kass , Elisson nl , Vanessa Sousa , Yasmin Omar , Lobke Meels , Iulia Ioncu , Emilia Agasi , Julia Johnsson , Zoe Barois , Anna De Brouwer , B.T.J. van Dijl , Marijn Kerkhofs , Margit Janssen , Richard Delava , Amy Kutmon , Peter Swanenberg , Ryan Miller , Anouk Wolters , Hermann Ritter , G. Keulen , Ann Friesacher , Natalie Hinkova , Conroy lipids , Robert Andrews , William J Griffiths , Bas Lahaije , Elisa Santarsiero , Franziska Kreidl , Kelly Janssen , Lot Van De Wouw , Roel Hacking , Max Van Son , Je G , XNauts , Youssef Walid , Rik Lahaije , Agustin Gonzalez-Vicente , Mzolisi Mtshaulana , and Lisa Martina Held .