Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
0.100 CausalMutation phenotype CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
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: 55650
Gene Symbol: PIGV
PIGV
0.100 Biomarker phenotype HPO
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
0.100 Biomarker phenotype HPO
Entrez Id: 2314
Gene Symbol: FLII
FLII
0.100 Biomarker phenotype HPO
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
0.100 Biomarker phenotype HPO
Entrez Id: 473
Gene Symbol: RERE
RERE
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
0.100 Biomarker phenotype HPO
Entrez Id: 283489
Gene Symbol: CHAMP1
CHAMP1
0.100 Biomarker phenotype HPO
Entrez Id: 9508
Gene Symbol: ADAMTS3
ADAMTS3
0.100 Biomarker phenotype HPO
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
0.100 Biomarker phenotype HPO
Entrez Id: 6611
Gene Symbol: SMS
SMS
0.100 Biomarker phenotype HPO
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 91949
Gene Symbol: COG7
COG7
0.100 Biomarker phenotype HPO
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
0.100 Biomarker phenotype HPO
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2
0.100 Biomarker phenotype HPO
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
0.100 Biomarker phenotype HPO
Entrez Id: 51109
Gene Symbol: RDH11
RDH11
0.100 Biomarker phenotype HPO
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
0.100 Biomarker phenotype HPO
Entrez Id: 29089
Gene Symbol: UBE2T
UBE2T
0.100 Biomarker phenotype HPO
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B
0.100 Biomarker phenotype HPO
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
0.100 Biomarker phenotype HPO
Entrez Id: 27245
Gene Symbol: AHDC1
AHDC1
0.100 Biomarker phenotype HPO