Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker disease CLINGEN Loss of fibulin-4 disrupts collagen synthesis and maturation: implications for pathology resulting from EFEMP2 mutations. 26220971 2015
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker disease CLINGEN Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities. 26178373 2015
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker disease CLINGEN Decreased expression of fibulin-4 in aortic wall of aortic dissection. 23518852 2014
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker disease CLINGEN Recessively inherited severe aortic aneurysm caused by mutated EFEMP2. 22440127 2012
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker disease CLINGEN Fibulin-4 deficiency results in ascending aortic aneurysms: a potential link between abnormal smooth muscle cell phenotype and aneurysm progression. 20019329 2010
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker disease CLINGEN Fibulin-4 conducts proper elastogenesis via interaction with cross-linking enzyme lysyl oxidase. 19855011 2009
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker disease CLINGEN Perturbations of vascular homeostasis and aortic valve abnormalities in fibulin-4 deficient mice. 17293478 2007
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker disease CLINGEN Targeted disruption of fibulin-4 abolishes elastogenesis and causes perinatal lethality in mice. 16478991 2006
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.310 Biomarker group CTD_human Downregulation of several fibulin genes in prostate cancer. 17929269 2007
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.310 Biomarker disease CTD_human Our recent microarray analysis suggested downregulation of three fibulins, FBLN1, FBLN4, and FBLN5, in prostate cancer, while two further ECM genes, SPOCK1 (testican) and TENC (tenascin C), appeared upregulated or unchanged. 17929269 2007
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.310 Biomarker disease BEFREE Knockdown of MBP-1 in human prostate cancer cells delays cell cycle progression. 16762917 2006
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.310 Biomarker group BEFREE Next, we investigated the therapeutic effectiveness of MBP-1 repressor domain on prostate tumors. 15705866 2005
CUI: C0268351
Disease: Cutis Laxa, Autosomal Recessive, Type I
Cutis Laxa, Autosomal Recessive, Type I 		0.300 GermlineCausalMutation disease ORPHANET Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. 19664000 2009
CUI: C0432336
Disease: Cutis laxa, recessive, type I
Cutis laxa, recessive, type I 		0.300 GermlineCausalMutation disease ORPHANET Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. 19664000 2009
CUI: C0268351
Disease: Cutis Laxa, Autosomal Recessive, Type I
Cutis Laxa, Autosomal Recessive, Type I 		0.300 GermlineCausalMutation disease ORPHANET Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. 16685658 2006
CUI: C0432336
Disease: Cutis laxa, recessive, type I
Cutis laxa, recessive, type I 		0.300 GermlineCausalMutation disease ORPHANET Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. 16685658 2006
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0265010
Disease: Ruptured thoracic aortic aneurysm
Ruptured thoracic aortic aneurysm 		0.200 Biomarker disease MGD
CUI: C0265012
Disease: Ruptured abdominal aortic aneurysm
Ruptured abdominal aortic aneurysm 		0.200 Biomarker disease MGD
CUI: C0741160
Disease: Aortic Aneurysm, Ruptured
Aortic Aneurysm, Ruptured 		0.200 Biomarker disease MGD
CUI: C1305122
Disease: Thoracoabdominal aortic aneurysm, ruptured
Thoracoabdominal 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