Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.100 Biomarker disease HPO
Entrez Id: 85300
Gene Symbol: ATCAY
ATCAY 		0.100 Biomarker disease HPO
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.100 Biomarker disease HPO
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.100 Biomarker disease HPO
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		0.100 Biomarker disease HPO
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2 		0.100 Biomarker disease HPO
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		0.100 Biomarker disease HPO
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		0.100 Biomarker disease HPO
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3 		0.100 Biomarker disease HPO
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.100 Biomarker disease HPO
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B 		0.100 Biomarker disease HPO
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2 		0.100 Biomarker disease HPO
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1 		0.100 Biomarker disease HPO
Entrez Id: 25814
Gene Symbol: ATXN10
ATXN10 		0.100 Biomarker disease HPO
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		0.100 Biomarker disease HPO
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3 		0.100 Biomarker disease HPO
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7 		0.100 Biomarker disease HPO
Entrez Id: 724066
Gene Symbol: ATXN8
ATXN8 		0.100 Biomarker disease HPO
Entrez Id: 6315
Gene Symbol: ATXN8OS
ATXN8OS 		0.100 Biomarker disease HPO
Entrez Id: 549
Gene Symbol: AUH
AUH 		0.100 Biomarker disease HPO
Entrez Id: 2583
Gene Symbol: B4GALNT1
B4GALNT1 		0.100 Biomarker disease HPO
Entrez Id: 9031
Gene Symbol: BAZ1B
BAZ1B 		0.100 Biomarker disease HPO
Entrez Id: 9564
Gene Symbol: BCAR1
BCAR1 		0.010 Biomarker disease BEFREE <b>Abbreviations</b>: CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; II: Intelligibility Index; No MSD: No Motor Speech Disorder; OII: Ordinal Intelligibility Index; PSD: Persistent Speech Delay; SDCS: Speech Disorders Classification System; SMD: Speech Motor Delay. 31221010 2019
Entrez Id: 53335
Gene Symbol: BCL11A
BCL11A 		0.010 Biomarker disease BEFREE Here we report on an 11-year-old male with a heterozygous de novo 0.2 Mb deletion containing a single gene, BCL11A, and a phenotype characterized by childhood apraxia of speech and dysarthria in the presence of general oral and gross motor dyspraxia and hypotonia as well as expressive language and mild intellectual delays. 24810580 2014
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.100 Biomarker disease HPO