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: 8243
Gene Symbol: SMC1A
SMC1A 		0.100 GeneticVariation disease CLINVAR
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: 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: 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: 5373
Gene Symbol: PMM2
PMM2 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 8726
Gene Symbol: EED
EED 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		0.100 CausalMutation disease CLINVAR
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: 4210
Gene Symbol: MEFV
MEFV 		0.100 CausalMutation disease CLINVAR
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		0.100 CausalMutation disease CLINVAR
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		0.100 GeneticVariation 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