Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
0.150 GeneticVariation disease BEFREE Deficiency of OASIS is linked to a severe form of autosomal recessive osteogenesis imperfecta (OI), but only few patients have been reported. 30657919 2019
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
0.150 GeneticVariation disease BEFREE We report a novel homozygous CREB3L1 mutation in a large Indonesian family; the homozygous affected members have survived to adulthood and they present a more severe phenotype than previously reported, expanding the clinical spectrum of OI for this gene. 31207160 2019
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
0.150 Biomarker disease BEFREE Here, we expand the clinical spectrum by a detailed phenotypic characterization of the first case of OASIS-associated OI surviving the neonatal period, with heterozygous family members being unaffected. 29936144 2018
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
0.150 GeneticVariation disease BEFREE We sought the genetic cause of mild and lethal OI phenotypes in an unsolved family.MethodsWe performed exome sequencing on seven members of the family, both affected and unaffected.ResultsWe identified a variant in cyclic AMP responsive element binding protein 3-like 1 (CREB3L1) in a consanguineous family. 28817112 2018
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
0.150 Biomarker disease BEFREE This is the first report linking CREB3L1 to human recessive OI, thereby expanding the OI gene spectrum. 24079343 2013
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
0.150 CausalMutation disease CLINVAR