Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 27125
Gene Symbol: AFF4
AFF4 		0.100 Biomarker disease HPO
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 27245
Gene Symbol: AHDC1
AHDC1 		0.100 Biomarker disease HPO
Entrez Id: 324
Gene Symbol: APC
APC 		0.100 Biomarker disease HPO
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: 421
Gene Symbol: ARVCF
ARVCF 		0.100 Biomarker disease HPO
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		0.100 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: 529
Gene Symbol: ATP6V1E1
ATP6V1E1 		0.100 Biomarker disease HPO
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 Biomarker disease HPO
Entrez Id: 1123
Gene Symbol: CHN1
CHN1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 1312
Gene Symbol: COMT
COMT 		0.100 Biomarker disease HPO
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 Biomarker disease HPO
Entrez Id: 2033
Gene Symbol: EP300
EP300 		0.100 Biomarker disease HPO
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.100 Biomarker disease HPO
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1 		0.010 Biomarker disease BEFREE Although it is known that FOXP1 defects are related to abnormalities in vocal communication, FOXP1-associated laryngomalacia or vocal cord paralysis/immobilization cases have not been reported yet. 30579078 2019
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB 		0.100 Biomarker disease HPO
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 9759
Gene Symbol: HDAC4
HDAC4 		0.100 Biomarker disease HPO
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		0.100 Biomarker disease HPO
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13 		0.100 Biomarker disease HPO
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.100 Biomarker disease HPO
Entrez Id: 219844
Gene Symbol: HYLS1
HYLS1 		0.100 Biomarker disease HPO
Entrez Id: 3553
Gene Symbol: IL1B
IL1B 		0.010 AlteredExpression disease BEFREE Presence and level of salivary pepsin was not significantly associated with need for surgical management, nor were the levels or presence of IL-1β or IL-8 significantly associated with presence or level of pepsin, diagnosis of laryngomalacia, or need for operative management. 31631681 2020