|
Abnormality of connective tissue
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Abnormally folded helix
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Adducted thumb
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Adenocarcinoma
|
0.010 |
GeneticVariation
|
group |
BEFREE |
One of the two exon 11 c-kit mutations in synchronous adenocarcinomas with GISTs was an uncommon mutation of CTT > CCA at amino acid 576, and the other was a GTT deletion at amino acid 560.
|
29018259 |
2017 |
|
Adenoma
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Both genes showed high frequency of methylation in colon cancer cell lines (>80% for both of genes), adenomas (77% for FBN2, 90% for TCERG1L, n = 39), and carcinomas (86% for FBN2, 99% for TCERG1L, n = 124).
|
22238052 |
2012 |
|
Adolescent idiopathic scoliosis
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.
|
24833718 |
2014 |
|
Adolescent idiopathic scoliosis
|
0.020 |
Biomarker
|
disease |
BEFREE |
To determine whether common variants of fibrillin-1 (FBN1) and fibrillin-2 (FBN2) are associated with adolescent idiopathic scoliosis (AIS), and to further investigate to further investigate the functional role of FBN1 in the onset and progression of AIS.
|
30044367 |
2019 |
|
Adult Medulloblastoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A synonymous sequence variation in PDGFRA (CCG to CCA; PRO 567 PRO) was detected in two cases (approximately 7%), but not in 150 normal chromosomes assessed, suggesting that the PDGFRA locus may be associated with medulloblastoma development in certain cases.
|
16434186 |
2006 |
|
Age related macular degeneration
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Age related macular degeneration
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
We detect suggestive association of a common FBN2 non-synonymous variant, rs154001 (p.Val965Ile) with AMD in 10 337 cases and 11 174 controls (OR = 1.10; P-value = 3.79 × 10(-5)).
|
24899048 |
2014 |
|
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 |
|
Androgen-Insensitivity Syndrome
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Scoliosis severity in AIS cases was associated with FBN1 and FBN2 rare variants (P = 0.0012) and replicated in an independent Han Chinese cohort (P = 0.0376), suggesting that rare variants may be useful as predictors of curve progression.
|
24833718 |
2014 |
|
Androgen-Insensitivity Syndrome
|
0.020 |
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 |
|
Aneurysm of aortic root
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Aneurysm of femoral artery
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Femoral Artery Aneurysm Repair in a Patient With a Fibrillin-2 Mutation.
|
29742989 |
2018 |
|
Aortic Aneurysm
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Aortic root dilatation
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, analysis of the clinical data of the CCA patients with characterized FBN2 mutation indicate that CCA patients have aortic root dilatation and the vast majority lack evidence of congenital heart disease.
|
11754102 |
2002 |
|
Arachnodactyly
|
0.120 |
Biomarker
|
disease |
BEFREE |
CCA is characterized by arachnodactyly, dolichostenomelia, pectus deformities, kyphoscoliosis, congenital contractures and a crumpled appearance of the helix of the ear.
|
27196565 |
2016 |
|
Arachnodactyly
|
0.120 |
Biomarker
|
disease |
HPO |
|
|
|
|
Arachnodactyly
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
Contractural arachnodactyly is due to mutations in FBN2.
|
8541880 |
1995 |
|
Arachnodactyly
|
0.120 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Arteriosclerosis
|
0.020 |
Biomarker
|
disease |
BEFREE |
Markers of subclinical atherosclerosis were measured 14 years after baseline and included common carotid artery intima-media thickness ( CCA - IMT ), adventitial diameter ( CCA - AD ), and carotid plaque.
|
30482079 |
2018 |
|
Arteriosclerosis
|
0.020 |
Biomarker
|
disease |
BEFREE |
Common carotid intima-media thickness (CCA-IMT) and carotid plaques are surrogate markers of subclinical atherosclerosis and predictors of CV events.
|
28326854 |
2017 |
|
Arthrogryposis
|
0.110 |
GeneticVariation
|
disease |
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 |
|
Arthrogryposis
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|