Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
0.100 Biomarker disease HPO
Entrez Id: 6536
Gene Symbol: SLC6A9
SLC6A9
0.100 Biomarker disease HPO
Entrez Id: 285590
Gene Symbol: SH3PXD2B
SH3PXD2B
0.100 Biomarker disease HPO
Entrez Id: 6497
Gene Symbol: SKI
SKI
0.100 Biomarker disease HPO
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
0.100 Biomarker disease HPO
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
0.100 Biomarker disease HPO
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1
0.100 Biomarker disease HPO
Entrez Id: 1311
Gene Symbol: COMP
COMP
0.100 Biomarker disease HPO
Entrez Id: 124583
Gene Symbol: CANT1
CANT1
0.100 Biomarker disease HPO
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
0.100 Biomarker disease HPO
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3
0.100 Biomarker disease HPO
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.100 Biomarker disease HPO
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
0.100 Biomarker disease HPO
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.100 Biomarker disease HPO
Entrez Id: 9150
Gene Symbol: CTDP1
CTDP1
0.100 Biomarker disease HPO
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
0.100 Biomarker disease HPO
Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1
0.100 Biomarker disease HPO
Entrez Id: 81620
Gene Symbol: CDT1
CDT1
0.100 Biomarker disease HPO
Entrez Id: 57192
Gene Symbol: MCOLN1
MCOLN1
0.100 Biomarker disease HPO
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
0.100 Biomarker disease HPO
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
0.100 Biomarker disease HPO
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
0.100 Biomarker disease HPO
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1
0.100 Biomarker disease HPO
Entrez Id: 154
Gene Symbol: ADRB2
ADRB2
0.010 GeneticVariation disease BEFREE Our results demonstrated that high-level rhythmic gymnasts constituted a genetically selected population showing higher frequency of: (a) ADRB2 and FTO alleles linked to low body mass index and low fat mass; (b) COL5A1 CT genotype linked to high joint mobility and to the occurrence of genu recurvatum, but also to a higher incidence of injuries. 24702222 2014
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
0.010 GeneticVariation disease BEFREE Our results demonstrated that high-level rhythmic gymnasts constituted a genetically selected population showing higher frequency of: (a) ADRB2 and FTO alleles linked to low body mass index and low fat mass; (b) COL5A1 CT genotype linked to high joint mobility and to the occurrence of genu recurvatum, but also to a higher incidence of injuries. 24702222 2014