Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A 		0.100 CausalMutation disease CLINVAR
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 79228
Gene Symbol: THOC6
THOC6 		0.100 CausalMutation disease CLINVAR
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8 		0.100 CausalMutation disease CLINVAR
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.100 CausalMutation disease CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI 		0.100 CausalMutation disease CLINVAR
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		0.100 CausalMutation disease CLINVAR
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		0.100 CausalMutation disease CLINVAR
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		0.110 Biomarker disease HPO
Entrez Id: 6663
Gene Symbol: SOX10
SOX10 		0.100 Biomarker disease HPO
Entrez Id: 3313
Gene Symbol: HSPA9
HSPA9 		0.100 Biomarker disease HPO
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU 		0.100 Biomarker disease HPO
Entrez Id: 54361
Gene Symbol: WNT4
WNT4 		0.100 Biomarker disease HPO
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5 		0.100 Biomarker disease HPO
Entrez Id: 6448
Gene Symbol: SGSH
SGSH 		0.100 Biomarker disease HPO
Entrez Id: 5885
Gene Symbol: RAD21
RAD21 		0.100 Biomarker disease HPO
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2 		0.100 Biomarker disease HPO
Entrez Id: 84300
Gene Symbol: UQCC2
UQCC2 		0.100 Biomarker disease HPO
Entrez Id: 10087
Gene Symbol: CERT1
CERT1 		0.100 Biomarker disease HPO
Entrez Id: 54888
Gene Symbol: NSUN2
NSUN2 		0.100 Biomarker disease HPO
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.100 Biomarker disease HPO