Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25
Gene Symbol: ABL1
ABL1
0.100 CausalMutation phenotype CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
0.100 CausalMutation phenotype CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689 2016
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
0.100 Biomarker phenotype HPO
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
0.100 Biomarker phenotype HPO
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.100 Biomarker phenotype HPO
Entrez Id: 8091
Gene Symbol: HMGA2
HMGA2
0.100 Biomarker phenotype HPO
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU
0.100 Biomarker phenotype HPO
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
0.100 Biomarker phenotype HPO
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
0.100 Biomarker phenotype HPO
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
0.100 Biomarker phenotype HPO
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
0.100 Biomarker phenotype HPO
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4
0.100 Biomarker phenotype HPO
Entrez Id: 2121
Gene Symbol: EVC
EVC
0.100 Biomarker phenotype HPO
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
0.100 Biomarker phenotype HPO
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.100 Biomarker phenotype HPO
Entrez Id: 178
Gene Symbol: AGL
AGL
0.100 Biomarker phenotype HPO
Entrez Id: 7704
Gene Symbol: ZBTB16
ZBTB16
0.100 Biomarker phenotype HPO
Entrez Id: 10225
Gene Symbol: CD96
CD96
0.100 Biomarker phenotype HPO
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
0.100 Biomarker phenotype HPO
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
0.100 Biomarker phenotype HPO
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
0.100 Biomarker phenotype HPO
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B
0.100 Biomarker phenotype HPO
Entrez Id: 65992
Gene Symbol: DDRGK1
DDRGK1
0.100 Biomarker phenotype HPO