Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1 		0.310 GeneticVariation disease BEFREE Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1. 17163535 2007
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2 		0.110 GeneticVariation disease BEFREE Recently, subjects with Barber-Say and Ablepharon-Macrostomia syndromes were found to harbor heterozygous missense substitutions in the paralogous glutamic acid residue in TWIST2 (p.Glu75Ala, p.Glu75Gln and p.Glu75Lys). 28369379 2017
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		0.110 GeneticVariation disease BEFREE X-linked intellectual disability type Nascimento (MIM #300860), caused by mutations in UBE2A (MIM *312180), is characterized by craniofacial dysmorphism (synophrys, prominent supraorbital ridges, deep-set, almond-shaped eyes, depressed nasal bridge, prominent columella, hypoplastic alae nasi, and macrostomia), skin anomalies (hirsutism, myxedematous appearance, onychodystrophy), micropenis, moderate to severe intellectual disability (ID), motor delay, impaired/absent speech, and seizures. 24053514 2013
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: 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: 6664
Gene Symbol: SOX11
SOX11 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 2517
Gene Symbol: FUCA1
FUCA1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.100 CausalMutation disease CLINVAR
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation disease CLINVAR
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 GeneticVariation disease CLINVAR
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: 23126
Gene Symbol: POGZ
POGZ 		0.100 CausalMutation disease CLINVAR
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1 		0.310 Biomarker disease CTD_human Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1. 17163535 2007
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.400 Biomarker disease HPO
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2 		0.110 Biomarker disease HPO
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		0.110 Biomarker disease HPO
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