Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.110 GeneticVariation disease BEFREE The disease is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate and is caused by heterozygous mutations in the genes encoding transforming growth factor beta receptors 1 and 2 (TGFBR1 and TGFBR2, respectively). 16928994 2006
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.110 GeneticVariation disease BEFREE The disease is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate and is caused by heterozygous mutations in the genes encoding transforming growth factor beta receptors 1 and 2 (TGFBR1 and TGFBR2, respectively). 16928994 2006
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.110 Biomarker disease HPO
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.110 Biomarker disease HPO
Entrez Id: 23498
Gene Symbol: HAAO
HAAO 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Entrez Id: 9487
Gene Symbol: PIGL
PIGL 		0.100 Biomarker disease HPO
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.100 Biomarker disease HPO
Entrez Id: 54880
Gene Symbol: BCOR
BCOR 		0.100 Biomarker disease HPO
Entrez Id: 633
Gene Symbol: BGN
BGN 		0.100 Biomarker disease HPO
Entrez Id: 23594
Gene Symbol: ORC6
ORC6 		0.100 Biomarker disease HPO
Entrez Id: 284098
Gene Symbol: PIGW
PIGW 		0.100 Biomarker disease HPO
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		0.100 Biomarker disease HPO
Entrez Id: 1605
Gene Symbol: DAG1
DAG1 		0.100 Biomarker disease HPO
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		0.100 Biomarker disease HPO
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3 		0.100 Biomarker disease HPO
Entrez Id: 23498
Gene Symbol: HAAO
HAAO 		0.100 Biomarker disease HPO
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1 		0.100 Biomarker disease HPO
Entrez Id: 9775
Gene Symbol: EIF4A3
EIF4A3 		0.100 Biomarker disease HPO
Entrez Id: 51053
Gene Symbol: GMNN
GMNN 		0.100 Biomarker disease HPO
Entrez Id: 3756
Gene Symbol: KCNH1
KCNH1 		0.100 Biomarker disease HPO
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH 		0.100 Biomarker disease HPO
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.100 Biomarker disease HPO
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.100 Biomarker disease HPO
Entrez Id: 652
Gene Symbol: BMP4
BMP4 		0.100 Biomarker disease HPO