Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280798
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
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
CUI: C3280798
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
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
CUI: C3280798
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
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
CUI: C3280798
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
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
CUI: C3280798
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
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
CUI: C3280798
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
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
CUI: C3280798
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
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
CUI: C3280798
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
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
CUI: C3280798
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
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
CUI: C3280798
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB 		0.700 CausalMutation disease CLINVAR
CUI: C3280798
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB 		0.700 Biomarker disease CTD_human