Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3043
Gene Symbol: HBB
HBB 		0.400 Biomarker phenotype CTD_human Loss of NRF2 function exacerbates the pathophysiology of sickle cell disease in a transgenic mouse model. 29255069 2018
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		0.400 Biomarker phenotype CTD_human Analysis of hematopathology and alteration of JAK1/STAT3/STAT5 signaling axis in experimental myelodysplastic syndrome. 27725143 2016
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		0.400 Biomarker phenotype CTD_human Analysis of hematopathology and alteration of JAK1/STAT3/STAT5 signaling axis in experimental myelodysplastic syndrome. 27725143 2016
Entrez Id: 331
Gene Symbol: XIAP
XIAP 		0.400 Biomarker phenotype GENOMICS_ENGLAND Clinical and genetic characteristics of XIAP deficiency in Japan. 22228567 2012
Entrez Id: 355
Gene Symbol: FAS
FAS 		0.400 Biomarker phenotype CTD_human Depletion of autoreactive plasma cells and treatment of lupus nephritis in mice using CEP-33779, a novel, orally active, selective inhibitor of JAK2. 21880982 2011
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		0.400 Biomarker phenotype CTD_human A nonsense mutation of PEPD in four Amish children with prolidase deficiency. 16470701 2006
Entrez Id: 100506658
Gene Symbol: OCLN
OCLN 		0.400 Biomarker phenotype CTD_human The thiopurine methyltransferase genetic polymorphism is associated with thioguanine-related veno-occlusive disease of the liver in children with acute lymphoblastic leukemia. 17015055 2006
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.400 Biomarker phenotype CTD_human Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)]. 11095479 2000
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.400 Biomarker phenotype HPO
Entrez Id: 331
Gene Symbol: XIAP
XIAP 		0.400 Biomarker phenotype HPO
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		0.400 Biomarker phenotype HPO
Entrez Id: 355
Gene Symbol: FAS
FAS 		0.400 GeneticVariation phenotype CLINVAR
Entrez Id: 355
Gene Symbol: FAS
FAS 		0.400 Biomarker phenotype HPO
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		0.400 Biomarker phenotype HPO
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		0.400 Biomarker phenotype HPO
Entrez Id: 100506658
Gene Symbol: OCLN
OCLN 		0.400 Biomarker phenotype HPO
Entrez Id: 3043
Gene Symbol: HBB
HBB 		0.400 Biomarker phenotype HPO
Entrez Id: 6777
Gene Symbol: STAT5B
STAT5B 		0.300 Biomarker phenotype CTD_human STAT5BN642H is a driver mutation for T cell neoplasia. 29200404 2018
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2 		0.300 Biomarker phenotype CTD_human Loss of NRF2 function exacerbates the pathophysiology of sickle cell disease in a transgenic mouse model. 29255069 2018
Entrez Id: 351
Gene Symbol: APP
APP 		0.300 Biomarker phenotype CTD_human The BET-Bromodomain Inhibitor JQ1 Reduces Inflammation and Tau Phosphorylation at Ser396 in the Brain of the 3xTg Model of Alzheimer's Disease. 27117003 2016
Entrez Id: 4137
Gene Symbol: MAPT
MAPT 		0.300 Biomarker phenotype CTD_human The BET-Bromodomain Inhibitor JQ1 Reduces Inflammation and Tau Phosphorylation at Ser396 in the Brain of the 3xTg Model of Alzheimer's Disease. 27117003 2016
Entrez Id: 3782
Gene Symbol: KCNN3
KCNN3 		0.300 Biomarker phenotype GENOMICS_ENGLAND A de novo mutation in KCNN3 associated with autosomal dominant idiopathic non-cirrhotic portal hypertension. 26658685 2016
Entrez Id: 2122
Gene Symbol: MECOM
MECOM 		0.300 Biomarker phenotype CTD_human Analysis of hematopathology and alteration of JAK1/STAT3/STAT5 signaling axis in experimental myelodysplastic syndrome. 27725143 2016
Entrez Id: 324
Gene Symbol: APC
APC 		0.300 Biomarker phenotype CTD_human Analysis of hematopathology and alteration of JAK1/STAT3/STAT5 signaling axis in experimental myelodysplastic syndrome. 27725143 2016
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.300 Biomarker phenotype CTD_human The BET-Bromodomain Inhibitor JQ1 Reduces Inflammation and Tau Phosphorylation at Ser396 in the Brain of the 3xTg Model of Alzheimer's Disease. 27117003 2016