PPP1R2C, PPP1R2C family member C, 80316

N. diseases: 231; N. variants: 0
Disease: Osteogenesis Imperfecta ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.080 GeneticVariation disease BEFREE Up to 90% of OI types I-IV are caused by pathogenic variants in the COL1A1/2 genes. 31159867 2019
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.080 GeneticVariation disease BEFREE Moreover, some different findings emerged if compared with previous literature; especially, focusing the attention on the lethal form, no association with specific collagen regions was found and most of variants localized in the previously reported "lethal clusters" were causative of OI types I-IV. 30886339 2019
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.080 GeneticVariation disease BEFREE Although fifteen types (I‑XV) of OI have been identified at present, the majority of patients are diagnosed as OI type I‑IV. 28901398 2017
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.080 GeneticVariation disease BEFREE There are seven types of OI, I to VII, among which type I-IV are relatively common and associated with type I collagen. 24682174 2014
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.080 Biomarker disease BEFREE To identify a molecular genetic cause in patients with a clinical diagnosis of osteogenesis imperfecta (OI) type I/IV. 21113976 2010
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.080 Biomarker disease BEFREE Osteogenesis imperfecta (OI) is basically divided into four clinical types, I-IV. 18553516 2008
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.080 GeneticVariation disease BEFREE Such mutations can occur in all the classical forms of osteogenesis imperfecta (types I-IV), but genotype/phenotype correlations are complex and often unpredictable. 14562271 2003
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.080 GeneticVariation disease BEFREE Here we report thirty-three novel mutations in patients with types I-IV OI. 11317364 2001