RAD21, RAD21 cohesin complex component, 5885

N. diseases: 192; N. variants: 19
Disease: Chronic intestinal pseudo-obstruction ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238062
Disease: Chronic intestinal pseudo-obstruction
Chronic intestinal pseudo-obstruction 		0.020 GeneticVariation disease BEFREE A RAD21 loss-of-function mutation was found in cases of chronic intestinal pseudo-obstruction (CIPO) with associated enteric neuronal loss. 30069982 2018
CUI: C0238062
Disease: Chronic intestinal pseudo-obstruction
Chronic intestinal pseudo-obstruction 		0.020 GeneticVariation disease BEFREE We identified a homozygous mutation (p.622, encodes Ala>Thr) in RAD21 in patients from a consanguineous family with CIPO. 25575569 2015