Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5 		0.100 Biomarker disease HPO
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		0.100 Biomarker disease HPO
Entrez Id: 9049
Gene Symbol: AIP
AIP 		0.100 Biomarker disease HPO
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11 		0.100 Biomarker disease HPO
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.100 Biomarker disease HPO
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		0.100 Biomarker disease HPO
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		0.110 Biomarker disease HPO
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: 526
Gene Symbol: ATP6V1B2
ATP6V1B2 		0.100 Biomarker disease HPO
Entrez Id: 650
Gene Symbol: BMP2
BMP2 		0.100 Biomarker disease HPO
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.100 Biomarker disease HPO
Entrez Id: 57003
Gene Symbol: CCDC47
CCDC47 		0.100 Biomarker disease HPO
Entrez Id: 998
Gene Symbol: CDC42
CDC42 		0.100 Biomarker disease HPO
Entrez Id: 1009
Gene Symbol: CDH11
CDH11 		0.100 Biomarker disease HPO
Entrez Id: 8558
Gene Symbol: CDK10
CDK10 		0.100 Biomarker disease HPO
Entrez Id: 50937
Gene Symbol: CDON
CDON 		0.100 Biomarker disease HPO
Entrez Id: 10087
Gene Symbol: CERT1
CERT1 		0.100 Biomarker disease HPO
Entrez Id: 22856
Gene Symbol: CHSY1
CHSY1 		0.100 Biomarker disease HPO
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 1457
Gene Symbol: CSNK2A1
CSNK2A1 		0.100 Biomarker disease HPO
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B 		0.100 Biomarker disease HPO
Entrez Id: 55280
Gene Symbol: CWF19L1
CWF19L1 		0.100 Biomarker disease HPO
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		0.100 Biomarker disease HPO
Entrez Id: 22907
Gene Symbol: DHX30
DHX30 		0.100 Biomarker disease HPO