Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1 		0.100 Biomarker disease HPO
Entrez Id: 25
Gene Symbol: ABL1
ABL1 		0.100 CausalMutation disease CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
Entrez Id: 25
Gene Symbol: ABL1
ABL1 		0.100 Biomarker disease HPO
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.100 Biomarker disease HPO
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.100 Biomarker disease HPO
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2 		0.100 Biomarker disease HPO
Entrez Id: 57211
Gene Symbol: ADGRG6
ADGRG6 		0.010 Biomarker disease BEFREE Together, these data uncover Gpr126 as a genetic cause for the pathogenesis of AIS and PE in a mouse model. 25954032 2015
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		0.100 Biomarker disease HPO
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1 		0.100 Biomarker disease HPO
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		0.100 Biomarker disease HPO
Entrez Id: 367
Gene Symbol: AR
AR 		0.010 Biomarker disease BEFREE Because of the increased frequency of PE in family members of AIS patients, consideration of family members with PE as affected may increase the power of AIS genetic linkage studies. 19139660 2009
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4 		0.100 Biomarker disease HPO
Entrez Id: 431
Gene Symbol: ASD1
ASD1 		0.010 Biomarker disease BEFREE Clinical findings in the 4 affected males included a tall slender habitus (3) (the fourth was tall but muscular), a long-narrow face (3), large head (4), highly arched palate (4), small mandible (4), abnormal speech (4), hypernasal voice (3), joint hyperextensibility (3), borderline to large testes (3), pectus excavatum (2), atrial septal defect (1), and a double row of teeth (1). 6711603 1984
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2 		0.100 Biomarker disease HPO
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		0.100 Biomarker disease HPO
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT 		0.100 Biomarker disease HPO
Entrez Id: 9031
Gene Symbol: BAZ1B
BAZ1B 		0.100 Biomarker disease HPO
Entrez Id: 27241
Gene Symbol: BBS9
BBS9 		0.100 CausalMutation disease CLINVAR
Entrez Id: 54880
Gene Symbol: BCOR
BCOR 		0.100 Biomarker disease HPO
Entrez Id: 100533467
Gene Symbol: BIVM-ERCC5
BIVM-ERCC5 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 650
Gene Symbol: BMP2
BMP2 		0.100 Biomarker disease HPO
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.100 Biomarker disease HPO
Entrez Id: 867
Gene Symbol: CBL
CBL 		0.100 Biomarker disease HPO
Entrez Id: 867
Gene Symbol: CBL
CBL 		0.100 CausalMutation disease CLINVAR
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 Biomarker disease HPO