Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64061
Gene Symbol: TSPYL2
TSPYL2
0.010 GeneticVariation disease BEFREE Post-infancy, the patient developed acral dysmorphism and pectus excavatum the latter rarely found in CDA1. 24420417 2014
Entrez Id: 3855
Gene Symbol: KRT7
KRT7
0.010 Biomarker disease BEFREE Patients with PE (n = 266) underwent a standard surgical procedure by the same surgeon and did the Symptom Checklist 90 (SCL-90) and the Self-rating Depression Scale (SDS) questionnaires before and 1 year after surgery. 28626162 2017
Entrez Id: 79690
Gene Symbol: GAL3ST4
GAL3ST4
0.010 AlteredExpression disease BEFREE Molecularly, we found that loss of Gpr126 upregulated the expression of Gal3st4, a gene implicated in human PE, encoding Galactose-3-O-sulfotransferase 4. 25954032 2015
Entrez Id: 6886
Gene Symbol: TAL1
TAL1
0.010 Biomarker disease BEFREE Patients with PE (n = 266) underwent a standard surgical procedure by the same surgeon and did the Symptom Checklist 90 (SCL-90) and the Self-rating Depression Scale (SDS) questionnaires before and 1 year after surgery. 28626162 2017
Entrez Id: 57211
Gene Symbol: ADGRG6
ADGRG6
0.010 Biomarker disease BEFREE Together, these data uncover Gpr126 as a genetic cause for the pathogenesis of AIS and PE in a mouse model. 25954032 2015
Entrez Id: 8626
Gene Symbol: TP63
TP63
0.010 Biomarker disease BEFREE Because of the increased frequency of PE in family members of AIS patients, consideration of family members with PE as affected may increase the power of AIS genetic linkage studies. 19139660 2009
Entrez Id: 450095
Gene Symbol: PLF
PLF
0.010 Biomarker disease BEFREE Pulmonary function in children with Pectus excavatum and post-operative changes after nuss procedure. 30084024 2018
Entrez Id: 367
Gene Symbol: AR
AR
0.010 Biomarker disease BEFREE Because of the increased frequency of PE in family members of AIS patients, consideration of family members with PE as affected may increase the power of AIS genetic linkage studies. 19139660 2009
Entrez Id: 51540
Gene Symbol: SCLY
SCLY
0.010 Biomarker disease BEFREE Patients with PE (n = 266) underwent a standard surgical procedure by the same surgeon and did the Symptom Checklist 90 (SCL-90) and the Self-rating Depression Scale (SDS) questionnaires before and 1 year after surgery. 28626162 2017
Entrez Id: 260402
Gene Symbol: IS1
IS1
0.010 Biomarker disease BEFREE Because of the increased frequency of PE in family members of AIS patients, consideration of family members with PE as affected may increase the power of AIS genetic linkage studies. 19139660 2009
Entrez Id: 431
Gene Symbol: ASD1
ASD1
0.010 Biomarker disease BEFREE Clinical findings in the 4 affected males included a tall slender habitus (3) (the fourth was tall but muscular), a long-narrow face (3), large head (4), highly arched palate (4), small mandible (4), abnormal speech (4), hypernasal voice (3), joint hyperextensibility (3), borderline to large testes (3), pectus excavatum (2), atrial septal defect (1), and a double row of teeth (1). 6711603 1984
Entrez Id: 146059
Gene Symbol: CDAN1
CDAN1
0.010 GeneticVariation disease BEFREE Post-infancy, the patient developed acral dysmorphism and pectus excavatum the latter rarely found in CDA1. 24420417 2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 CausalMutation disease CLINVAR
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
0.100 GeneticVariation disease CLINVAR
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.100 CausalMutation disease CLINVAR
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
0.100 CausalMutation disease CLINVAR
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
0.100 GeneticVariation disease CLINVAR
Entrez Id: 5476
Gene Symbol: CTSA
CTSA
0.100 CausalMutation disease CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197 2014
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.100 CausalMutation disease CLINVAR
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.100 CausalMutation disease CLINVAR
Entrez Id: 100533467
Gene Symbol: BIVM-ERCC5
BIVM-ERCC5
0.100 GeneticVariation disease CLINVAR
Entrez Id: 25
Gene Symbol: ABL1
ABL1
0.100 CausalMutation disease CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
0.100 SusceptibilityMutation disease CLINVAR
Entrez Id: 341640
Gene Symbol: FREM2
FREM2
0.100 SusceptibilityMutation disease CLINVAR
Entrez Id: 27241
Gene Symbol: BBS9
BBS9
0.100 CausalMutation disease CLINVAR