Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.300 Biomarker phenotype CTD_human Thiazide therapy for ACTH-induced hypercalciuria and nephrolithiasis. 1324751 1992
Entrez Id: 6913
Gene Symbol: TBX15
TBX15
0.100 GeneticVariation phenotype GWASCAT Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations. 29895819 2018
Entrez Id: 596
Gene Symbol: BCL2
BCL2
0.100 GeneticVariation phenotype GWASCAT Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations. 29895819 2018
Entrez Id: 347689
Gene Symbol: SOX2-OT
SOX2-OT
0.100 GeneticVariation phenotype GWASCAT Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations. 29895819 2018
Entrez Id: 3987
Gene Symbol: LIMS1
LIMS1
0.100 GeneticVariation phenotype GWASCAT Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations. 29895819 2018
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
0.100 CausalMutation phenotype CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
0.100 GeneticVariation phenotype CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
0.100 Biomarker phenotype HPO
Entrez Id: 6878
Gene Symbol: TAF6
TAF6
0.100 Biomarker phenotype HPO
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
0.100 Biomarker phenotype HPO
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
0.100 Biomarker phenotype HPO
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
0.100 Biomarker phenotype HPO
Entrez Id: 29072
Gene Symbol: SETD2
SETD2
0.100 Biomarker phenotype HPO
Entrez Id: 1020
Gene Symbol: CDK5
CDK5
0.100 Biomarker phenotype HPO
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B
0.100 Biomarker phenotype HPO
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.100 Biomarker phenotype HPO
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
0.100 Biomarker phenotype HPO
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 22907
Gene Symbol: DHX30
DHX30
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 170302
Gene Symbol: ARX
ARX
0.100 Biomarker phenotype HPO
Entrez Id: 1584
Gene Symbol: CYP11B1
CYP11B1
0.100 Biomarker phenotype HPO
Entrez Id: 5566
Gene Symbol: PRKACA
PRKACA
0.100 Biomarker phenotype HPO
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
0.100 Biomarker phenotype HPO