Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1741
Gene Symbol: DLG3
DLG3 		0.010 GeneticVariation disease BEFREE Golabi and Rosen (1984) have reported on a new X-linked mental retardation/multiple congenital anomalies (XLMR/MCA) syndrome of pre- and postnatal overgrowth, characteristic "coarse" facial appearance with macrostomia, midline groove of tongue, lower alveolar ridge and lip, submucous cleft of palate, supernumerary nipples, intestinal anomalies, supernumerary pair of ribs, anomalies of sacrum and tailbone, hypoplastic index fingernails, postaxial polydactyly and other digital anomalies. 6538756 1984
Entrez Id: 6659
Gene Symbol: SOX4
SOX4 		0.100 GeneticVariation disease CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772 2019
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		0.100 GeneticVariation 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: 79796
Gene Symbol: ALG9
ALG9 		0.100 Biomarker disease HPO
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12 		0.100 Biomarker disease HPO
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		0.100 Biomarker disease HPO
Entrez Id: 6888
Gene Symbol: TALDO1
TALDO1 		0.100 Biomarker disease HPO
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.100 Biomarker disease HPO
Entrez Id: 8295
Gene Symbol: TRRAP
TRRAP 		0.100 Biomarker disease HPO
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		0.100 Biomarker disease HPO
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2 		0.100 Biomarker disease HPO
Entrez Id: 10484
Gene Symbol: SEC23A
SEC23A 		0.100 Biomarker disease HPO
Entrez Id: 57688
Gene Symbol: ZSWIM6
ZSWIM6 		0.100 Biomarker disease HPO
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		0.100 Biomarker disease HPO
Entrez Id: 201163
Gene Symbol: FLCN
FLCN 		0.100 Biomarker disease HPO
Entrez Id: 2799
Gene Symbol: GNS
GNS 		0.100 Biomarker disease HPO
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1 		0.100 Biomarker disease HPO
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.100 Biomarker disease HPO
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.100 Biomarker disease HPO
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D 		0.100 Biomarker disease HPO
Entrez Id: 2969
Gene Symbol: GTF2I
GTF2I 		0.100 Biomarker disease HPO
Entrez Id: 54888
Gene Symbol: NSUN2
NSUN2 		0.100 Biomarker disease HPO
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B 		0.100 Biomarker disease HPO
Entrez Id: 10265
Gene Symbol: IRX5
IRX5 		0.100 Biomarker disease HPO
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		0.100 Biomarker disease HPO