×
Entrez Id:
6910
Gene Symbol:
TBX5
TBX5
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
4908
Gene Symbol:
NTF3
NTF3
0.200
Biomarker
disease
MGD
Targeted mutation in the neurotrophin-3 gene results in loss of muscle sensory neurons.
7991545
1994
×
Entrez Id:
4908
Gene Symbol:
NTF3
NTF3
0.200
Biomarker
disease
MGD
Identification of an essential nonneuronal function of neurotrophin 3 in mammalian cardiac development.
8841198
1996
×
Entrez Id:
4908
Gene Symbol:
NTF3
NTF3
0.200
Biomarker
disease
MGD
Absence of sensory neurons before target innervation in brain-derived neurotrophic factor-, neurotrophin 3-, and TrkC-deficient embryonic mice.
9364058
1997
×
Entrez Id:
4908
Gene Symbol:
NTF3
NTF3
0.200
Biomarker
disease
MGD
Loss of brain-derived neurotrophic factor-dependent neural crest-derived sensory neurons in neurotrophin-4 mutant mice.
10681461
2000
×
Entrez Id:
1401
Gene Symbol:
CRP
CRP
0.030
AlteredExpression
disease
BEFREE
Soluble IL-2 receptors, IL-4 and IL-18 levels were correlated with disease activity or CRP value only in chronic articular ASD .
11752512
2001
×
Entrez Id:
3606
Gene Symbol:
IL18
IL18
0.030
AlteredExpression
disease
BEFREE
Soluble IL-2 receptors, IL-4 and IL-18 levels were correlated with disease activity or CRP value only in chronic articular ASD .
11752512
2001
×
Entrez Id:
3606
Gene Symbol:
IL18
IL18
0.030
AlteredExpression
disease
BEFREE
Levels of IL-18 were found to correlate with serum ferritin values and disease severity in ASD .
11263769
2001
×
Entrez Id:
3576
Gene Symbol:
CXCL8
CXCL8
0.010
AlteredExpression
disease
BEFREE
Interferon gamma and IL-8 remained increased only in chronic articular ASD , even when disease activity, including IL-6 and CRP, was low.
11752512
2001
HLA-DRB1
0.010
GeneticVariation
disease
BEFREE
DRB1 *1501 (DR2) and DRB1 *1201 (DR5) alleles were more frequent in chronic articular than in systemic ASD , whereas DQB1*0602 (DQ1) was frequently observed in both types of ASD .
11752512
2001
×
Entrez Id:
129831
Gene Symbol:
RBM45
RBM45
0.010
GeneticVariation
disease
BEFREE
DRB1 *1501 (DR2) and DRB1 *1201 (DR5) alleles were more frequent in chronic articular than in systemic ASD , whereas DQB1*0602 (DQ1) was frequently observed in both types of ASD .
11752512
2001
×
Entrez Id:
3565
Gene Symbol:
IL4
IL4
0.010
AlteredExpression
disease
BEFREE
Soluble IL-2 receptors, IL-4 and IL-18 levels were correlated with disease activity or CRP value only in chronic articular ASD .
11752512
2001
×
Entrez Id:
7124
Gene Symbol:
TNF
TNF
0.010
Biomarker
disease
BEFREE
Tumour necrosis factor (TNF ) alpha, soluble TNF receptor 2 and interleukin (IL)-18 were increased in both types of ASD , even in remission.
11752512
2001
×
Entrez Id:
5308
Gene Symbol:
PITX2
PITX2
0.060
GeneticVariation
disease
BEFREE
Three novel mutations of PITX2 (4.7%) were identified among 64 patients with AR, IGD, IH, or ASD .
14985297
2004
×
Entrez Id:
1585
Gene Symbol:
CYP11B2
CYP11B2
0.040
AlteredExpression
disease
BEFREE
This case of ASD is of particular interest because despite the apparent lack of aldosterone synthase activity, the patient displays low-normal aldosterone levels, thus raising the question of its source.
15240589
2004
×
Entrez Id:
3491
Gene Symbol:
CCN1
CCN1
0.200
Biomarker
disease
MGD
The matricellular protein CCN1 is essential for cardiac development.
17023674
2006
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.020
GeneticVariation
disease
BEFREE
Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD ).
17106362
2006
×
Entrez Id:
3963
Gene Symbol:
LGALS7
LGALS7
0.010
Biomarker
disease
BEFREE
Direct parent-offspring transmission of phenotype was statistically significantly more common in ASD -associated infantile glaucoma (2/8) than in PIG (1 /56) pedigrees (p = 0.039).
17050285
2006
×
Entrez Id:
57532
Gene Symbol:
NUFIP2
NUFIP2
0.010
Biomarker
disease
BEFREE
Direct parent-offspring transmission of phenotype was statistically significantly more common in ASD -associated infantile glaucoma (2/8) than in PIG (1 /56) pedigrees (p = 0.039).
17050285
2006
×
Entrez Id:
653499
Gene Symbol:
LGALS7B
LGALS7B
0.010
Biomarker
disease
BEFREE
Direct parent-offspring transmission of phenotype was statistically significantly more common in ASD -associated infantile glaucoma (2/8) than in PIG (1 /56) pedigrees (p = 0.039).
17050285
2006
×
Entrez Id:
5080
Gene Symbol:
PAX6
PAX6
0.010
GeneticVariation
disease
BEFREE
Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD ).
17106362
2006
×
Entrez Id:
414
Gene Symbol:
ARSD
ARSD
0.100
GeneticVariation
disease
BEFREE
In view of the high prevalence of familial occurrence of secundum ASD (10% of all ASD patients), we recommend screening all first degree relatives of ASD patients for cardiac, conduction and skeletal anomalies.
17462063
2007
×
Entrez Id:
2296
Gene Symbol:
FOXC1
FOXC1
0.060
GeneticVariation
disease
BEFREE
Our findings support the role of FOXC1 mutations in the spectrum of ASD .
18498376
2008
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.020
Biomarker
disease
BEFREE
The exact role of CYP1B1 in the pathogenesis of glaucoma and other ASD disorders remains to be elucidated.
17914928
2008
×
Entrez Id:
4908
Gene Symbol:
NTF3
NTF3
0.200
Biomarker
disease
MGD
LIG family receptor tyrosine kinase-associated proteins modulate growth factor signals during neural development.
19755105
2009