Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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
Entrez Id: 3123
Gene Symbol: HLA-DRB1
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: 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: 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: 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: 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: 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: 7092
Gene Symbol: TLL1
TLL1 		0.020 GeneticVariation disease BEFREE Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD. 18830233 2009