FBN2, fibrillin 2, 2201

N. diseases: 211; N. variants: 42
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007282
Disease: Carotid Stenosis
Carotid Stenosis
0.010 Biomarker disease BEFREE Common carotid artery intima-media thickness (CCA-IMT), carotid plaques and carotid stenosis were measured at both common carotid arteries using an edge detection system. 30909115 2020
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma
0.010 Biomarker disease BEFREE Our study aimed to investigate the clinicopathological and radiological features of cHCC-CCA and compare their outcomes with hepatocellular carcinoma (HCC) and intrahepatic cholangiocarcinoma (ICC). 30876788 2020
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
0.010 Biomarker group BEFREE Thus, LINC00261 could be a promising biomarker and therapeutic target for CCA, and in the high level of LINC00261 in CCA, E-cadherin or CDH1 might be an effective factor for tumor metastasis or poor prognosis. 31812439 2020
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 Biomarker group BEFREE Most of the patients with CCA/Ph- cells demonstrated no significant dysplasia or increased blasts with two exceptions: one patient with persistent 7q- exhibiting mild dysmegakaryopoiesis, suggestive of an early evolving myelodysplastic syndrome, and another patient with complex cytogenetic abnormalities who developed acute myeloid leukemia after gained MLL amplification. 31425925 2019
CUI: C0013537
Disease: Eclampsia
Eclampsia
0.010 Biomarker disease BEFREE This study examined whether individual CCA wall layers, risk factors for cardiovascular disease, and markers of endothelial dysfunction had normalized or remained unfavorable seven years after pre-eclampsia. 31200939 2019
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.010 Biomarker group BEFREE <b>Abbreviations</b> PSC: Primary sclerosing cholangitis; IBD: inflammatory bowel disease; CCA: cholangiocarcinoma; SAP: serum alkaline phosphatase; ULN: upper limit of normal; UDCA: ursodeoxycholic acid; CRP: c-reactive protein; AST: aspartate aminotransferase; ALT: alanine aminotransferase; INR: international normalized ratio; FIS: fatigue impact scale; AE: adverse events; PREsTo: PSC risk estimate tool; IQR: interquartile range; ELF: enhanced liver fibrosis. 31131678 2019
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute
0.010 Biomarker disease BEFREE However, when stratified by post-operative AKI and cell cycle arrest (CCA) biomarkers, AKI patients displayed a significant decrease in RFR {from 14.4 [interquartile range (IQR) 9.5 - 24.3] to 9.1 (IQR 7.1 - 12.5) mL/min/1.73 m2; P < 0.001} and patients without AKI but with positive post-operative CCA biomarkers also experienced a similar decrease of RFR [from 26.7 (IQR 22.9 - 31.5) to 19.7 (IQR 15.8 - 22.8) mL/min/1.73 m2; P < 0.001]. 30053231 2019
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc
0.010 AlteredExpression disease BEFREE The Student t test was used to compare the expression of FBN1 and FBN2 between patients with AIS and LDH. 30044367 2019
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
0.010 Biomarker phenotype BEFREE This study examined whether individual CCA wall layers, risk factors for cardiovascular disease, and markers of endothelial dysfunction had normalized or remained unfavorable seven years after pre-eclampsia. 31200939 2019
CUI: C0861876
Disease: Recurrent Hepatocellular Carcinoma
Recurrent Hepatocellular Carcinoma
0.010 Biomarker disease BEFREE When M and L tumor burdens did not exceed Milan (class B or A), rHCC was low (≤10%) as in AAA, ABA, ABB, BBA, BBB; rHCC was also low (≤10%) with successful downstaging when L was A (<Milan) and M tumor burden did not exceed I, as in BBA, CCA, and DDA. 30706653 2019
CUI: C0948187
Disease: Tracheomalacia
Tracheomalacia
0.010 GeneticVariation disease BEFREE Analysis of human tracheal tissues indicates that a decrease in ECM proteins, including FBN2 and Fibronectin, is associated with tracheomalacia.Our findings provide novel insights into the role of ECM homeostasis in mesenchymal cell polarisation during tracheal tubulogenesis. 30578393 2019
CUI: C1285498
Disease: Vegetation
Vegetation
0.010 Biomarker disease BEFREE The application of TWINSPAN, DCA and CCA multivariate analyses led to identify 3 vegetation groups (VGI: <i>Pulicaria undulata</i>-<i>Prunus arabica,</i> VGII: <i>Prunus arabica-Artemisia seiberi</i>, VGIII: <i>Artemisia seiberi-Achillea fragrantissima</i>) associated with the distribution of <i>P. arabica</i>. 31485172 2019
CUI: C1516490
Disease: Cholangiolocellular Carcinoma
Cholangiolocellular Carcinoma
0.010 Biomarker disease BEFREE We examined genetic alterations of hTERT promoter (hTERT), IDH1 or 2 (IDH1/2), KRAS, ARID1A, PBRM1, ARID2, BAP1, p53 and their association with histologic features such as proportion of CLC and DPM-pattern in 77 patients with primary liver carcinoma diagnosed as cHCC-CCA or CLC. 30520820 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 GeneticVariation group BEFREE We report a 29 week fetus with arthrogryposis multiplex congenita, multiple joint dislocations, scoliosis and dysmorphism who was detected to be double heterozygote for putatively pathogenic FBN1 (NM_000138.4:c.6004C > T; p.Pro2002Ser) and FBN2 (NM_001999.3:c.2945G > T; p.Cys982Phe) variants on exome sequencing. 29501612 2018
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases
0.010 GeneticVariation group BEFREE Areas of intense research include their multifaceted roles in metabolic diseases (non-alcoholic steatohepatitis, NASH), fibrosis or liver cancer (hepatocellular or cholangiocellular carcinoma, HCC or CCA). 29454647 2018
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.010 Biomarker disease BEFREE We investigated the presence of autoantibodies against the extracellular matrix proteins thrombospondin-4 (TSP-4), cartilage oligomeric matrix protein (COMP), C-type lectin domain family 3 member A (CLEC3A), collagen II, collagen VI, matrilin-3, and fibrillin-2 in the serum of osteoarthritis (OA) patients. 30001809 2018
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.010 GeneticVariation disease BEFREE Mutations in the human TRNT1 gene encoding tRNA nucleotidyltransferase (tRNA-NT), an essential enzyme responsible for addition of the CCA (cytidine-cytidine-adenosine) sequence to the 3'-termini of tRNAs, have been linked to disease phenotypes including congenital sideroblastic anemia with B-cell immunodeficiency, periodic fevers and developmental delay (SIFD) or retinitis pigmentosa with erythrocyte microcytosis. 29454993 2018
CUI: C0036330
Disease: Schistosomiasis mansoni
Schistosomiasis mansoni
0.010 Biomarker disease BEFREE Results showed POC-CCA technique as an effective, sensitive and accurate screening tool for Schistosoma mansoni infection in areas of low prevalence. 29642875 2018
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases
0.010 Biomarker group BEFREE AMPK: AMP-activated protein kinase; BafA: bafilomycin A<sub>1</sub>; BNIP3L: BCL2/adenovirus E1B interacting protein 3-like; CCA: chronic contractile activity; COX4I1: cytochrome c oxidase subunit 4I1; DMEM: Dulbecco's modified Eagle's medium; GFP: green fluorescent protein; LSD: lysosomal storage diseases; MAP1LC3/LC3: microtubule-associated protein 1 light chain 3; MTORC1: mechanistic target of rapamycin kinase complex 1; NAC: N-acetylcysteine; PPARGC1A: peroxisome proliferative activated receptor, gamma, coactivator 1 alpha; PINK1: PTEN induced putative kinase 1; ROS: reactive oxygen species; SOD2: superoxide dismutase 2, mitochondrial; SQSTM1/p62: sequestosome 1; TFEB: transcription factor EB. 30078345 2018
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.010 Biomarker disease BEFREE To investigate the relationship between common carotid artery diameter (CCA-D) and target organ damage (TOD) in essential hypertension. 29035944 2018
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
0.010 Biomarker disease BEFREE Patients with CCA-D/height more than 3.905 mm/m have higher left ventricular mass index (LVMI) (P < 0.001) and higher prevalence of left ventricular hypertrophy (LVH) (P < 0.001), higher mean common carotid intima-media thickness (P = 0.008) and higher prevalence of carotid artery sclerosis (P = 0.03), higher pulse wave velocity (PWV) (P < 0.001) and higher prevalence of increased arterial stiffness (P = 0.01), higher urinary albumin/creatinine ratio (P = 0.001) and higher prevalence of microalbuminuria (P = 0.02) and greater number of TODs (P < 0.001) compared with the patients with CCA-D/height less than 3.905 mm/m. 29035944 2018
CUI: C0221018
Disease: Hereditary sideroblastic anemia
Hereditary sideroblastic anemia
0.010 GeneticVariation disease BEFREE Mutations in the human TRNT1 gene encoding tRNA nucleotidyltransferase (tRNA-NT), an essential enzyme responsible for addition of the CCA (cytidine-cytidine-adenosine) sequence to the 3'-termini of tRNAs, have been linked to disease phenotypes including congenital sideroblastic anemia with B-cell immunodeficiency, periodic fevers and developmental delay (SIFD) or retinitis pigmentosa with erythrocyte microcytosis. 29454993 2018
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
0.010 GeneticVariation group BEFREE Multivariate analysis of genomics data to identify potential pleiotropic genes for type 2 diabetes, obesity and dyslipidemia using Meta-CCA and gene-based approach. 30110382 2018
CUI: C0264963
Disease: Aneurysm of femoral artery
Aneurysm of femoral artery
0.010 GeneticVariation phenotype BEFREE Femoral Artery Aneurysm Repair in a Patient With a Fibrillin-2 Mutation. 29742989 2018
CUI: C0332853
Disease: Anastomosis
Anastomosis
0.010 Biomarker disease BEFREE CCA, outward remodeling of capillaries that anastomose 2 arteriolar trees with different parent feed arteries, may represent a therapeutic target for patients who lack collaterals. 29285816 2018