RMRP gene homepage
||RNA component of mitochondrial RNA processing endoribonuclease|
|Associated with diseases
||CHH, Anauxetic dysplasia, dysplasia, metaphyseal, without hypotrichosis|
||Ridanpää et al. 2001|
|Total number of public variants reported
|Unique public DNA variants reported
|Individuals with public variants
|Download all this gene's data
||Download all data|
||Only mutations associated with Cartilage-hair hypoplasia (MIM#250250) are shown in this database (mutations may also cause Anauxetic dysplasia, MIM#607095, or Metaphyseal dysplasia without hypotrichosis, MIM#250460).|
The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project.
This database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66).
||June 27, 2012|
|Date last updated
||May 05, 2017|
|Copyright & disclaimer|
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