Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.400 Biomarker disease GENOMICS_ENGLAND FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes. 8941379 1996
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.400 Biomarker disease HPO
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: 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: 23384
Gene Symbol: SPECC1L
SPECC1L 		0.300 GermlineCausalMutation disease ORPHANET Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. 21703590 2011
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2 		0.300 GermlineCausalMutation disease ORPHANET A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation. 19208383 2009
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: 117581
Gene Symbol: TWIST2
TWIST2 		0.110 Biomarker disease HPO
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		0.110 Biomarker disease HPO
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