Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 92935
Gene Symbol: MARS2
MARS2
0.110 GeneticVariation disease BEFREE Identification of additional patients with single-nucleotide mutations in MARS2 is necessary to determine if pectus carinatum is also a consistent feature of this syndrome. 25754315 2015
Entrez Id: 414
Gene Symbol: ARSD
ARSD
0.010 Biomarker disease BEFREE We report on a patient with CHARGE syndrome, as manifested by a coloboma of the optic nerve head, congenital heart defect (ASD, VSD, and parachute mitral valve), choanal atresia, severe growth retardation, genital hypoplasia, abnormal ears, cleft lip and palate, and pectus carinatum.His chromosomes were normal.He died at 19 months. 3565473 1987
Entrez Id: 551
Gene Symbol: AVP
AVP
0.010 Biomarker disease BEFREE Chicken breast muscle hydrolysates ameliorate acute alcohol-induced liver injury in mice through alcohol dehydrogenase (ADH) activation and oxidative stress reduction. 29309081 2018
Entrez Id: 10327
Gene Symbol: AKR1A1
AKR1A1
0.010 Biomarker disease BEFREE Chicken breast muscle hydrolysates ameliorate acute alcohol-induced liver injury in mice through alcohol dehydrogenase (ADH) activation and oxidative stress reduction. 29309081 2018
Entrez Id: 1993
Gene Symbol: ELAVL2
ELAVL2
0.010 Biomarker disease BEFREE Weighted gene coexpression network analysis identifies specific transcriptional modules and hub genes related to intramuscular fat traits in chicken breast muscle. 30937957 2019
Entrez Id: 146059
Gene Symbol: CDAN1
CDAN1
0.010 Biomarker disease BEFREE Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension with pigeon chest deformity. 24420417 2014
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
0.010 Biomarker disease BEFREE The feature of pectus carinatum has not been described in the PTHLH-related BDE patients previously. 31283647 2019
Entrez Id: 6342
Gene Symbol: SCP2
SCP2
0.010 Biomarker disease BEFREE Here, we evaluated the expression characteristics of miR-15a and its relationship with the expression of acetyl-CoA acyltransferase 1 (<i>ACAA1</i>), acyl-CoA oxidase 1 (<i>ACOX1</i>) and sterol carrier protein 2 (<i>SCP2</i>) by qPCR analysis in Gushi chicken breast muscle at 6, 14, 22, and 30 weeks old, where we performed transfection tests of miR-15a mimics in intramuscular preadipocytes and verified the target gene of miR-15a in chicken fibroblasts (DF1). 31434294 2019
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1
0.010 Biomarker disease BEFREE Here, we evaluated the expression characteristics of miR-15a and its relationship with the expression of acetyl-CoA acyltransferase 1 (<i>ACAA1</i>), acyl-CoA oxidase 1 (<i>ACOX1</i>) and sterol carrier protein 2 (<i>SCP2</i>) by qPCR analysis in Gushi chicken breast muscle at 6, 14, 22, and 30 weeks old, where we performed transfection tests of miR-15a mimics in intramuscular preadipocytes and verified the target gene of miR-15a in chicken fibroblasts (DF1). 31434294 2019
Entrez Id: 406948
Gene Symbol: MIR15A
MIR15A
0.010 AlteredExpression disease BEFREE Here, we evaluated the expression characteristics of miR-15a and its relationship with the expression of acetyl-CoA acyltransferase 1 (<i>ACAA1</i>), acyl-CoA oxidase 1 (<i>ACOX1</i>) and sterol carrier protein 2 (<i>SCP2</i>) by qPCR analysis in Gushi chicken breast muscle at 6, 14, 22, and 30 weeks old, where we performed transfection tests of miR-15a mimics in intramuscular preadipocytes and verified the target gene of miR-15a in chicken fibroblasts (DF1). 31434294 2019
Entrez Id: 6949
Gene Symbol: TCOF1
TCOF1
0.010 GeneticVariation disease BEFREE Previously unreported pectus carinatum was noted in our case bearing a heterozygous TCOF1 mutation. 24288143 2013
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
0.100 CausalMutation disease CLINVAR
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
0.100 GeneticVariation disease CLINVAR
Entrez Id: 2259
Gene Symbol: FGF14
FGF14
0.100 GeneticVariation disease CLINVAR
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
0.100 CausalMutation disease CLINVAR
Entrez Id: 6909
Gene Symbol: TBX2
TBX2
0.100 CausalMutation disease CLINVAR
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.100 CausalMutation disease CLINVAR
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
0.100 CausalMutation disease CLINVAR
Entrez Id: 673
Gene Symbol: BRAF
BRAF
0.100 CausalMutation disease CLINVAR
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 CausalMutation disease CLINVAR
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.100 CausalMutation disease CLINVAR
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.100 GeneticVariation disease CLINVAR
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
0.100 CausalMutation disease CLINVAR
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
0.100 CausalMutation disease CLINVAR
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
0.100 CausalMutation disease CLINVAR