Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		0.110 GeneticVariation disease BEFREE In this report, we describe six unrelated patients with newly diagnosed heterozygous de novo loss-of-function variants in ASXL3 and concordant clinical features: severe muscular hypotonia with feeding difficulties in infancy, significant motor delay, profound speech impairment, intellectual disability and a characteristic craniofacial phenotype (long face, arched eyebrows with mild synophrys, downslanting palpebral fissures, prominent columella, small alae nasi, high, narrow palate and relatively little facial expression). 27901041 2017
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		0.110 Biomarker disease HPO
Entrez Id: 84294
Gene Symbol: UTP23
UTP23 		0.100 GeneticVariation disease CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Entrez Id: 5885
Gene Symbol: RAD21
RAD21 		0.100 GeneticVariation disease CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
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: 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: 8243
Gene Symbol: SMC1A
SMC1A 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 6448
Gene Symbol: SGSH
SGSH 		0.100 Biomarker disease HPO
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: 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
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: 4853
Gene Symbol: NOTCH2
NOTCH2 		0.100 Biomarker disease HPO
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		0.100 Biomarker disease HPO