Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 197131
Gene Symbol: UBR1
UBR1
CUI: C0175692
Disease: Johanson-Blizzard syndrome
Johanson-Blizzard syndrome 		1.000 GermlineCausalMutation ORPHANET Clinical utility gene card for: Johanson-Blizzard syndrome. 23652379

2014
Entrez Id: 197131
Gene Symbol: UBR1
UBR1
CUI: C0175692
Disease: Johanson-Blizzard syndrome
Johanson-Blizzard syndrome 		1.000 GermlineCausalMutation ORPHANET Among these yeast Ubr1 mutants, one of them (H160R) was inactive in yeast-based activity assays, the other one (Q1224E) had a detectable but weak activity, and the third one (V146L) exhibited a decreased but significant activity, in agreement with manifestations of JBS in the corresponding JBS patients. 21931868

2011
Entrez Id: 197131
Gene Symbol: UBR1
UBR1
CUI: C0175692
Disease: Johanson-Blizzard syndrome
Johanson-Blizzard syndrome 		1.000 GermlineCausalMutation ORPHANET Pancreas of individuals with Johanson-Blizzard syndrome did not express UBR1 and had intrauterine-onset destructive pancreatitis. 16311597

2005