|
PROPERDIN DEFICIENCY, X-LINKED
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Malignant neoplasm of breast
|
0.310 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
|
Properdin Deficiency, Type II
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Properdin Deficiency, Type III
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Dysfunctional alternative complement pathway
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
X- linked recessive
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormality of metabolism/homeostasis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Dermatitis
|
0.010 |
Biomarker
|
disease |
BEFREE |
<b>Abbreviations:</b> atopic dermatitis: AD; interleukin: IL; persistent facial dermatitis: PFD; T-helper cell type 1: Th1; T-helper cell type 2: Th2; T-helper cell type 17: Th17; tumor necrosis factor-∝: TNF-∝.
|
31132923 |
2019 |
|
Anxiety symptoms
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Anxiety symptoms related to differences in superior medial PFC activation patterns.
|
27158587 |
2016 |
|
Schizophrenia
|
0.090 |
AlteredExpression
|
disease |
BEFREE |
Schizophrenia patients typically exhibit prominent negative symptoms associated with deficits in extinction recall and decreased ventromedial prefrontal cortex activity (vmPFC, analogous to medial PFC infralimbic segment in rodents). mPFC activity modulates the activity of basolateral amygdala (BLA) and this connectivity is related to extinction. mPFC and BLA activity has been shown to be altered in the methylazoxymethanol acetate (MAM) developmental disruption model of schizophrenia.
|
29973655 |
2018 |
|
Inflammatory Bowel Diseases
|
0.010 |
GeneticVariation
|
group |
BEFREE |
CFP p.L456V may exacerbate symptoms of infantile-onset IBD by disturbing oligomerization of properdin.
|
30199474 |
2018 |
|
Mental disorders
|
0.020 |
Biomarker
|
group |
BEFREE |
PFC-dependent cognitive dysfunction is a core feature of multiple psychiatric disorders.
|
30651328 |
2019 |
|
Abnormal behavior
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
PFC-dependent cognitive dysfunction is a core feature of multiple psychiatric disorders.
|
30651328 |
2019 |
|
Malignant neoplasm of breast
|
0.310 |
Biomarker
|
disease |
BEFREE |
CFP suppresses breast cancer cell growth by TES-mediated upregulation of the transcription factor DDIT3.
|
30755730 |
2019 |
|
Breast Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
CFP suppresses breast cancer cell growth by TES-mediated upregulation of the transcription factor DDIT3.
|
30755730 |
2019 |
|
Juvenile Myoclonic Epilepsy
|
0.010 |
Biomarker
|
disease |
BEFREE |
Properdin factor or Bf, human leukocyte antigen (HLA), and DNA markers in the HLA-DQ region were genetically linked to JME and the locus, named EJM1, was assigned to the short arm of chromosome 6.
|
8293722 |
1994 |
|
Tuberculosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
A fusion protein of ESAT-6 and CFP-10 is equivalent to overlapping peptides for the diagnosis of latent M. tuberculosis infection.
|
15872224 |
2005 |
|
Latent Tuberculosis
|
0.050 |
Biomarker
|
disease |
BEFREE |
A fusion protein of ESAT-6 and CFP-10 is equivalent to overlapping peptides for the diagnosis of latent M. tuberculosis infection.
|
15872224 |
2005 |
|
Properdin deficiency disease
|
0.510 |
GeneticVariation
|
disease |
BEFREE |
A splice site mutation in exon 10 (c.1487-2A>G) was found in the properdin gene and co segregated with biochemically measured properdin deficiency.
|
16337490 |
2006 |
|
Fibrous Dysplasia
|
0.010 |
Biomarker
|
disease |
BEFREE |
ALP = alkaline phosphatase; β-CTX = C-terminal telopeptide of type I collagen; BP = bisphosphonate; BTM = bone turnover marker; FD = fibrous dysplasia; MAS = McCune-Albright syndrome; ONJ = osteonecrosis of the jaw; PAM = pamidronate; PFD = polyostotic fibrous dysplasia; ULN = upper limit of normal; ZA = zoledronic acid.
|
30383490 |
2019 |
|
McCune-Albright Syndrome
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
ALP = alkaline phosphatase; β-CTX = C-terminal telopeptide of type I collagen; BP = bisphosphonate; BTM = bone turnover marker; FD = fibrous dysplasia; MAS = McCune-Albright syndrome; ONJ = osteonecrosis of the jaw; PAM = pamidronate; PFD = polyostotic fibrous dysplasia; ULN = upper limit of normal; ZA = zoledronic acid.
|
30383490 |
2019 |
|
Polyostotic fibrous dysplasia
|
0.010 |
Biomarker
|
disease |
BEFREE |
ALP = alkaline phosphatase; β-CTX = C-terminal telopeptide of type I collagen; BP = bisphosphonate; BTM = bone turnover marker; FD = fibrous dysplasia; MAS = McCune-Albright syndrome; ONJ = osteonecrosis of the jaw; PAM = pamidronate; PFD = polyostotic fibrous dysplasia; ULN = upper limit of normal; ZA = zoledronic acid.
|
30383490 |
2019 |
|
Tuberculosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Also, in this research, we proposed the incorporation of protein biomarker, Mycobacterium tuberculosis ESAT-6-like protein esxB (CFP-10), as a means of TB detection using plasmonic ELISA.
|
29899214 |
2018 |
|
Schizophrenia
|
0.090 |
Biomarker
|
disease |
BEFREE |
Alternative splicing of GAD1 and epigenetic state appear to play roles in the developmental profile of GAD1 expression and may contribute to GABA dysfunction in the PFC and hippocampus of patients with schizophrenia.
|
28485403 |
2018 |
|
Tuberculosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Although BfrB is not as immunodominant as ESAT-6/CFP-10 during acute M.tb infection, comparable BfrB-specific cellular immune responses are observed in LTBI population with the potential to increase the sensitivity for LTBI screening.
|
29050758 |
2017 |