Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9862
Gene Symbol: MED24
MED24
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8532
Gene Symbol: CPZ
CPZ
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 57504
Gene Symbol: MTA3
MTA3
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8467
Gene Symbol: SMARCA5
SMARCA5
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23476
Gene Symbol: BRD4
BRD4
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 64319
Gene Symbol: FBRS
FBRS
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23358
Gene Symbol: USP24
USP24
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1
0.100 GeneticVariation phenotype CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Entrez Id: 23499
Gene Symbol: MACF1
MACF1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
0.100 GeneticVariation phenotype CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942 2013
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 473
Gene Symbol: RERE
RERE
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 55558
Gene Symbol: PLXNA3
PLXNA3
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 84033
Gene Symbol: OBSCN
OBSCN
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 11180
Gene Symbol: WDR6
WDR6
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8632
Gene Symbol: DNAH17
DNAH17
0.100 GeneticVariation phenotype CLINVAR