Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.010 GeneticVariation disease BEFREE Mice lacking expression of the elastic fiber genes elastin ( Eln<sup>-/-</sup>), fibulin-4 ( Efemp2<sup>-/-</sup>), or lysyl oxidase ( Lox<sup>-/-</sup>) die at birth with severe cardiovascular malformations. 30312140 2018
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		0.100 Biomarker phenotype HPO
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.020 GeneticVariation disease BEFREE Frameshift and missense mutations in the fibulin-4 gene (EFEMP2/FBLN4) cause autosomal recessive cutis laxa (ARCL) 1B, characterized by loose skin, aortic aneurysm, arterial tortuosity, lung emphysema, and skeletal abnormalities. 26178373 2015
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.020 GeneticVariation disease BEFREE Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa. 27339457 2016
CUI: C0275518
Disease: Acute infectious disease
Acute infectious disease 		0.010 Biomarker group BEFREE Here, we investigated the degranulation patterns, including the cellular mechanisms of major basic protein-1 (MBP-1) release, from inflammatory eosinophils in a mouse model of <i>S. mansoni</i> infection (acute phase). 30619361 2018
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		0.010 Biomarker phenotype BEFREE Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency. 29362193 2018
CUI: C4489482
Disease: Aneurysm or dissection
Aneurysm or dissection 		0.010 Biomarker disease BEFREE Adult mice with 2-fold (heterozygous Fibulin-4(+/R)) and 4-fold (homozygous Fibulin-4(R/R)) reduced expression of fibulin-4 displayed the histological features of cystic media degeneration as found in patients with aneurysm or dissection, including elastin fiber fragmentation, loss of smooth muscle cells, and deposition of ground substance in the extracellular matrix of the aortic media. 21858106 2011
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.620 Biomarker disease HPO
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.620 Biomarker disease GENOMICS_ENGLAND Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. 16685658 2006
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.620 Biomarker disease BEFREE Homozygous or compound heterozygous mutations in fibulin-4 (<i>FBLN4</i>) lead to autosomal recessive cutis laxa type 1B (ARCL1B), a multisystem disorder characterized by significant cardiovascular abnormalities, including abnormal elastin assembly, arterial tortuosity, and aortic aneurysms. 28508064 2017
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.620 GeneticVariation disease BEFREE We used a mouse model of postnatal ascending aortic aneurysms ( Fbln4<sup>SMKO</sup>; termed SMKO [SMC-specific knockout]), in which deletion of Fbln4 (fibulin-4) leads to disruption of the elastin-contractile units caused by a loss of elastic lamina-SMC connections. 30355232 2018
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.620 Biomarker disease MGD
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.620 Biomarker disease GENOMICS_ENGLAND Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. 17937443 2007
CUI: C0741160
Disease: Aortic Aneurysm, Ruptured
Aortic Aneurysm, Ruptured 		0.200 Biomarker disease MGD
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.120 GeneticVariation disease BEFREE To date, several mutations in the fibulin-4 gene (FBLN4/EFEMP2) are known in patients whose major symptoms are vascular deformities, aneurysm, cutis laxa, joint laxity, or arachnodactyly. 27339457 2016
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.120 GeneticVariation disease BEFREE Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. 19664000 2009
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.120 Biomarker disease HPO
CUI: C1859726
Disease: ARTERIAL TORTUOSITY SYNDROME
ARTERIAL TORTUOSITY SYNDROME 		0.010 GeneticVariation disease BEFREE Lethal osteogenesis imperfecta-like condition with cutis laxa and arterial tortuosity in MZ twins due to a homozygous fibulin-4 mutation. 22070778 2012
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.020 GeneticVariation group BEFREE We describe a syndrome of lethal arteriopathy associated with a novel, identical mutation in the fibulin 4 gene (FBLN4) in a unique cohort of infants from South India. 22943132 2012
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.020 GeneticVariation group BEFREE Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene. 24838734 2014
CUI: C1836653
Disease: Ascending aortic dissection
Ascending aortic dissection 		0.010 AlteredExpression phenotype BEFREE In conclusion, in aortic wall of ascending aortic dissection, the expression of fibulin-4 protein decreased and the expression of fibulin-4 mRNA was abnormal. 23518852 2014
CUI: C0004096
Disease: Asthma
Asthma 		0.010 Biomarker disease BEFREE CLC/Gal-10 and MBP-1 may be useful biomarkers for differentiation of eosinophilic airway inflammation in asthma. 31157540 2019
CUI: C0004144
Disease: Atelectasis
Atelectasis 		0.100 Biomarker phenotype HPO
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.010 Biomarker group BEFREE Fibulin-4 is a target of autoimmunity predominantly in patients with osteoarthritis. 16493080 2006
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		0.100 GeneticVariation disease GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019