Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10616
Gene Symbol: RBCK1
RBCK1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		0.130 GeneticVariation BEFREE Patients with mutations in HOIL1 (RBCK1) present with amylopectinosis-associated myopathy with or without hyper-inflammation and immunodeficiency. 25599590

2015
Entrez Id: 10616
Gene Symbol: RBCK1
RBCK1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		0.130 Biomarker BEFREE Inherited, complete deficiency of human HOIL-1, a component of the linear ubiquitination chain assembly complex (LUBAC), underlies autoinflammation, infections, and amylopectinosis. 26008899

2015
Entrez Id: 10616
Gene Symbol: RBCK1
RBCK1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		0.130 Biomarker BEFREE Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. 23104095

2012
Entrez Id: 10616
Gene Symbol: RBCK1
RBCK1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		0.130 CausalMutation CLINVAR