Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B 		0.110 GeneticVariation disease BEFREE A 13-month-old Caucasian girl of Irish and Spanish ancestry was noted to have micrognathia and laryngomalacia at birth, which prompted a genetic evaluation that revealed biallelic deletions in COH1 (VPS13B) (a maternally inherited 60-kb deletion involving exons 26-32 and a paternally inherited 3.5-kb deletion within exon 17) consistent with Cohen syndrome. 29634382 2018
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B 		0.110 Biomarker disease HPO
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		0.100 CausalMutation disease CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689 2016
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation disease CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation disease CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309 2012
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13 		0.100 Biomarker disease HPO
Entrez Id: 27125
Gene Symbol: AFF4
AFF4 		0.100 Biomarker disease HPO
Entrez Id: 6239
Gene Symbol: RREB1
RREB1 		0.100 Biomarker disease HPO
Entrez Id: 1123
Gene Symbol: CHN1
CHN1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 101929328
Gene Symbol: KCNMA1-AS1
KCNMA1-AS1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		0.100 Biomarker disease HPO
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 Biomarker disease HPO
Entrez Id: 7486
Gene Symbol: WRN
WRN 		0.100 Biomarker disease HPO
Entrez Id: 23594
Gene Symbol: ORC6
ORC6 		0.100 Biomarker disease HPO
Entrez Id: 6926
Gene Symbol: TBX3
TBX3 		0.100 Biomarker disease HPO
Entrez Id: 219844
Gene Symbol: HYLS1
HYLS1 		0.100 Biomarker disease HPO
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB 		0.100 Biomarker disease HPO
Entrez Id: 91179
Gene Symbol: SCARF2
SCARF2 		0.100 Biomarker disease HPO
Entrez Id: 6134
Gene Symbol: RPL10
RPL10 		0.100 Biomarker disease HPO
Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 4038
Gene Symbol: LRP4
LRP4 		0.100 Biomarker disease HPO
Entrez Id: 1312
Gene Symbol: COMT
COMT 		0.100 Biomarker disease HPO
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.100 Biomarker disease HPO