Property Summary

NCBI Gene PubMed Count 110
Grant Count 45
R01 Count 31
Funding $6,321,062.78
PubMed Score 148.26
PubTator Score 121.77

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (52)

Disease Z-score Confidence
Fundus dystrophy 77 5.411 2.7
Age related macular degeneration 84 4.644 2.3
Cancer 2,346 3.209 1.6
Blindness 84 3.139 1.6
Retinal drusen 5 3.121 1.6
Acquired metabolic disease 267 2.0
Adenocarcinoma 115
Amyotrophic Lateral Sclerosis 431 1.0
Animal Mammary Neoplasms 136
Atopic dermatitis 944
Becker muscular dystrophy 187
Breast cancer 3,094
Colorectal Neoplasms 217
DOYNE HONEYCOMB RETINAL DYSTROPHY 1
Down syndrome 548
Duchenne muscular dystrophy 602
Lung Neoplasms 171
Malattia Leventinese 1
Mammary Neoplasms 410
Mammary Neoplasms, Experimental 150
Pancreatic Neoplasm 79
Venous Thromboembolism 34
acute quadriplegic myopathy 1,157
adrenocortical carcinoma 1,427
aldosterone-producing adenoma 664
astrocytoma 1,493
autosomal dominant Emery-Dreifuss muscul... 499 
breast carcinoma 1,614
dermatomyositis 933
ductal carcinoma in situ 1,745
fascioscapulohumeral muscular dystrophy 100
glioblastoma 5,572
group 4 medulloblastoma 1,875
intraductal papillary-mucinous adenoma (... 2,956 
intraductal papillary-mucinous carcinoma... 2,988 
intraductal papillary-mucinous neoplasm ... 3,289 
invasive ductal carcinoma 2,950
juvenile dermatomyositis 1,189
limb girdle muscular dystrophy 2A 156
lung adenocarcinoma 2,713
lung cancer 4,466
lung carcinoma 2,844
medulloblastoma, large-cell 6,234
non-small cell lung cancer 2,798
oligodendroglioma 2,849
ovarian cancer 8,484
pancreatic cancer 2,300
pituitary cancer 1,972
posterior fossa group A ependymoma 1,511
primary pancreatic ductal adenocarcinoma 1,271
psoriasis 6,685
ulcerative colitis 2,087

Expression

 IMPC Term (1)

Gene RIF (77)

PMID Text
27048115 The polymorphisms of EFEMP1 gene were associated with breast cancer and might contribute to the susceptibility of the progression of breast cancer in Chinese Han women.
26823870 The results of our study suggested an association between the EFEMP1 rs3791679 polymorphism and an elevated risk of glioma, especially in those with family history of glioma.
26702771 The EFEMP1 gene is significantly down-regulated in leiomyoma compared with myometrium.
26686553 Novel inguinal hernia susceptibility genes are identified as EFEMP1, WT1, EBF2 and ADAMTS6.
26638921 Median FBLN-3 concentrations were 12.96.
26592829 It was concluded that fibulin-3 is expressed at a lower level in colon cancer, and it can serve as a marker for advanced colon cancer.
26507503 Suggest that FBLN-1 may play a role in arterial stiffening in patients with atherosclerosis.
26427406 Studies indicate Arg345Trp (R345W) mutation in fibulin-3 (F3) as the cause of a rare retinal dystrophy, Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy (ML/DHRD).
26162006 The recent finding that a common variant near EFEMP1 was associated with optic nerve-head morphology supports the possibility that the EFEMP1 variant identified in this Primary open-angle glaucoma family may be pathogenic.
26037350 R345W mutation in EFEMP1 is responsible for the dominant retinal drusen.
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AA Sequence

MLKALFLTMLTLALVKSQDTEETITYTQCTDGYEWDPVRQQCKDIDECDIVPDACKGGMKCVNHYGGYLC      1 - 70
LPKTAQIIVNNEQPQQETQPAEGTSGATTGVVAASSMATSGVLPGGGFVASAAAVAGPEMQTGRNNFVIR     71 - 140
RNPADPQRIPSNPSHRIQCAAGYEQSEHNVCQDIDECTAGTHNCRADQVCINLRGSFACQCPPGYQKRGE    141 - 210
QCVDIDECTIPPYCHQRCVNTPGSFYCQCSPGFQLAANNYTCVDINECDASNQCAQQCYNILGSFICQCN    211 - 280
QGYELSSDRLNCEDIDECRTSSYLCQYQCVNEPGKFSCMCPQGYQVVRSRTCQDINECETTNECREDEMC    281 - 350
WNYHGGFRCYPRNPCQDPYILTPENRCVCPVSNAMCRELPQSIVYKYMSIRSDRSVPSDIFQIQATTIYA    351 - 420
NTINTFRIKSGNENGEFYLRQTSPVSAMLVLVKSLSGPREHIVDLEMLTVSSIGTFRTSSVLRLTIIVGP    421 - 490
FSF                                                                       491 - 493
//

Text Mined References (113)

PMID Year Title
27048115 2016 Association between genetic variants of EGF-containing fibulin-like extracellular matrix protein1 gene and sporadic breast cancer in a Chinese Han population.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26823870 2015 EFEMP1 rs3791679 polymorphism was associated with susceptibility to glioma.
26702771 2016 Epidermal growth factor-containing fibulin-like extracellular matrix protein 1 expression and regulation in uterine leiomyoma.
26686553 2015 A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia.
26638921 2015 FBLN-3 as a biomarker of pleural plaques in workers occupationally exposed to carcinogenic fibers: a pilot study.
26592829 2015 Decreased preoperative serum fibulin-3 levels in colon cancer patients.
26507503 2016 Association Between Fibulin-1 and Aortic Augmentation Index in Male Patients with Peripheral Arterial Disease.
26427406 2016 Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Similarities to Age-Related Macular Degeneration and Potential Therapies.
26162006 2015 Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma.
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