Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 105259599
Gene Symbol: H19-ICR
H19-ICR
0.110 PosttranslationalModification disease BEFREE There was a significant correlation (p<0.001) between the percentage of ICR1 methylation and BWS features: severe hypermethylation (range: 75-86%) was associated with macroglossia, macrosomia, and visceromegaly, whereas mild hypermethylation (range: 55-59%) was associated with umbilical hernia and diastasis recti. 23917791 2013
Entrez Id: 105259599
Gene Symbol: H19-ICR
H19-ICR
0.110 Biomarker disease HPO
Entrez Id: 113189
Gene Symbol: CHST14
CHST14
0.100 Biomarker disease HPO
Entrez Id: 10584
Gene Symbol: COLEC10
COLEC10
0.100 Biomarker disease HPO
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
0.100 Biomarker disease HPO
Entrez Id: 283120
Gene Symbol: H19
H19
0.100 Biomarker disease HPO
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
0.100 Biomarker disease HPO
Entrez Id: 2719
Gene Symbol: GPC3
GPC3
0.100 Biomarker disease HPO
Entrez Id: 5648
Gene Symbol: MASP1
MASP1
0.100 Biomarker disease HPO
Entrez Id: 2239
Gene Symbol: GPC4
GPC4
0.100 Biomarker disease HPO
Entrez Id: 63916
Gene Symbol: ELMO2
ELMO2
0.100 Biomarker disease HPO
Entrez Id: 23384
Gene Symbol: SPECC1L
SPECC1L
0.100 Biomarker disease HPO
Entrez Id: 23729
Gene Symbol: SHPK
SHPK
0.100 Biomarker disease HPO
Entrez Id: 78989
Gene Symbol: COLEC11
COLEC11
0.100 Biomarker disease HPO
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
0.100 Biomarker disease HPO
Entrez Id: 55012
Gene Symbol: PPP2R3C
PPP2R3C
0.100 Biomarker disease HPO
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
0.100 Biomarker disease HPO
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.100 GeneticVariation disease CLINVAR
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1
0.100 Biomarker disease HPO
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.100 Biomarker disease HPO
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 Biomarker disease HPO
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
0.100 Biomarker disease HPO
Entrez Id: 3481
Gene Symbol: IGF2
IGF2
0.100 Biomarker disease HPO