Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
0.700 GeneticVariation disease CLINVAR Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa. 27339457 2016
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
0.700 Biomarker disease GENOMICS_ENGLAND Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis. 22943132 2012
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
0.700 GeneticVariation disease UNIPROT Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. 19664000 2009
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
0.700 GeneticVariation disease UNIPROT Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. 17937443 2007
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
0.700 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
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
0.700 GeneticVariation disease CLINVAR Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. 17937443 2007
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
0.700 Biomarker disease GENOMICS_ENGLAND Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. 16685658 2006
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
0.700 GeneticVariation disease UNIPROT Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. 16685658 2006
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
0.700 GeneticVariation disease CLINVAR Comparison of intravenous and topical lidocaine as a suppressant of coughing after bronchoscopy during general anesthesia. 2038931 1991
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
0.700 CausalMutation disease CLINVAR
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
0.700 Biomarker disease CTD_human
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
0.650 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: C0010495
Disease: Cutis Laxa
Cutis Laxa
0.650 Biomarker 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: C0010495
Disease: Cutis Laxa
Cutis Laxa
0.650 GeneticVariation disease BEFREE Baroreflex failure, sympathetic storm, and cerebral vasospasm in fibulin-4 cutis laxa. 24733866 2014
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
0.650 Biomarker disease GENOMICS_ENGLAND Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 22829427 2013
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
0.650 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: C0010495
Disease: Cutis Laxa
Cutis Laxa
0.650 GeneticVariation disease BEFREE Direct sequencing of 17 patients with cutis laxa revealed no FBLN4 mutations. 20389311 2010
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
0.650 Biomarker disease HPO
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
0.650 Biomarker disease MGD
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 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 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: 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 HPO
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
0.620 Biomarker disease MGD