Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 93986
Gene Symbol: FOXP2
FOXP2 		0.420 AlteredExpression disease BEFREE FOXP2 is a brain-expressed transcription factor implicated in a rare disorder involving speech apraxia and language impairments. 30104377 2018
Entrez Id: 93986
Gene Symbol: FOXP2
FOXP2 		0.420 Biomarker disease CTD_human Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. 27120335 2016
Entrez Id: 93986
Gene Symbol: FOXP2
FOXP2 		0.420 Biomarker disease BEFREE Notably, the patients were not able to laugh, cough, or sneeze spontaneously, replicating findings reported for two other FOXP2 cases and a potential diagnostic sign of nonsyndromic apraxia of speech. 22106036 2012
Entrez Id: 93986
Gene Symbol: FOXP2
FOXP2 		0.420 Biomarker disease CTD_human Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. 17033973 2006
Entrez Id: 93986
Gene Symbol: FOXP2
FOXP2 		0.420 Biomarker disease HPO
Entrez Id: 1107
Gene Symbol: CHD3
CHD3 		0.410 GeneticVariation disease BEFREE In addition to macrocephaly and intellectual disability, CHD3 variants are associated with inguinal hernias and apraxia of speech; whereas CHD4 variants are associated with skeletal anomalies, deafness, and cardiac defects. 31737996 2019
Entrez Id: 1107
Gene Symbol: CHD3
CHD3 		0.410 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1107
Gene Symbol: CHD3
CHD3 		0.410 Biomarker disease HPO
Entrez Id: 53335
Gene Symbol: BCL11A
BCL11A 		0.300 Biomarker disease CTD_human Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. 27120335 2016
Entrez Id: 4137
Gene Symbol: MAPT
MAPT 		0.120 GeneticVariation disease BEFREE A new MAPT deletion in a case of speech apraxia leading to corticobasal syndrome. 29969053 2018
Entrez Id: 4137
Gene Symbol: MAPT
MAPT 		0.120 GeneticVariation disease BEFREE A Novel MAPT Mutation Causing Corticobasal Syndrome Led by Progressive Apraxia of Speech. 26402116 2015
Entrez Id: 4137
Gene Symbol: MAPT
MAPT 		0.120 Biomarker disease HPO
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2 		0.100 CausalMutation disease CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B 		0.100 CausalMutation disease CLINVAR Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases. 28077840 2017
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 27286
Gene Symbol: SRPX2
SRPX2 		0.100 Biomarker disease HPO
Entrez Id: 25839
Gene Symbol: COG4
COG4 		0.100 CausalMutation disease CLINVAR
Entrez Id: 10166
Gene Symbol: SLC25A15
SLC25A15 		0.100 Biomarker disease HPO
Entrez Id: 10743
Gene Symbol: RAI1
RAI1 		0.100 Biomarker disease HPO
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 CausalMutation disease CLINVAR
Entrez Id: 1105
Gene Symbol: CHD1
CHD1 		0.100 Biomarker disease HPO
Entrez Id: 23111
Gene Symbol: SPART
SPART 		0.100 Biomarker disease HPO
Entrez Id: 2592
Gene Symbol: GALT
GALT 		0.100 Biomarker disease HPO
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		0.100 CausalMutation disease CLINVAR