Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2043
Gene Symbol: EPHA4
EPHA4
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.010 Biomarker BEFREE Amyloid-β oligomers synaptotoxicity: The emerging role of EphA4/c-Abl signaling in Alzheimer's disease. 29378302

2018

Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 AlteredExpression BEFREE The aim of this study was to investigate the association of an insertion/deletion (I/D) polymorphism in angiotensin-converting enzyme (ACE) gene with serum ACE level in relation to the type and severity of malformations from congenital anomalies of the kidney and urinary tract (CAKUT) spectrum. 27206329

2018

Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 Biomarker BEFREE KANSL1 haploinsufficiency causes Koolen-de Vries syndrome (KdVS), characterized by dysmorphic features and intellectual disability; amiable personality, congenital malformations and seizures also commonly occur. 29352316

2018

Entrez Id: 255758
Gene Symbol: TCTEX1D2
TCTEX1D2
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 GeneticVariation BEFREE Variable expressivity of TCTEX1D2 mutations and a possible pathogenic link of molar-incisor malformation to ciliary dysfunction. 28475963

2018

Entrez Id: 79626
Gene Symbol: TNFAIP8L2
TNFAIP8L2
CUI: C0000814
Disease: Missed abortion
Missed abortion
0.010 AlteredExpression BEFREE The decreased expression of TIPE2 protein in the decidua of patients with missed abortion and possible significance. 28851386

2018

Entrez Id: 27250
Gene Symbol: PDCD4
PDCD4
CUI: C0000814
Disease: Missed abortion
Missed abortion
0.010 AlteredExpression BEFREE The Expression of PDCD4 in Patients With Missed Abortion and Its Clinical Significance. 29017439

2018

Entrez Id: 4477
Gene Symbol: MSMB
MSMB
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris
0.010 GeneticVariation BEFREE Association of the CYP17 MSP AI (T-34C) and CYP19 codon 39 (Trp/Arg) polymorphisms with susceptibility to acne vulgaris. 29285776

2018

Entrez Id: 89782
Gene Symbol: LMLN
LMLN
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris
0.010 GeneticVariation BEFREE Association of the CYP17 MSP AI (T-34C) and CYP19 codon 39 (Trp/Arg) polymorphisms with susceptibility to acne vulgaris. 29285776

2018

Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris
0.010 GeneticVariation BEFREE The presence of the CYP17 TC genotype significantly increased the risk of mild, moderate and severe AV by 2.68, 2.28 and 2.94 times, respectively, while the presence of the CYP19 TC genotype significantly elevated the risk of overall AV and mild AV by 2.1 and 3.2 times, respectively. 29285776

2018

Entrez Id: 1586
Gene Symbol: CYP17A1
CYP17A1
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris
0.010 GeneticVariation BEFREE The presence of the CYP17 TC genotype significantly increased the risk of mild, moderate and severe AV by 2.68, 2.28 and 2.94 times, respectively, while the presence of the CYP19 TC genotype significantly elevated the risk of overall AV and mild AV by 2.1 and 3.2 times, respectively. 29285776

2018

Entrez Id: 84000
Gene Symbol: TMPRSS13
TMPRSS13
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris
0.010 GeneticVariation BEFREE Association of the CYP17 MSP AI (T-34C) and CYP19 codon 39 (Trp/Arg) polymorphisms with susceptibility to acne vulgaris. 29285776

2018

Entrez Id: 4485
Gene Symbol: MST1
MST1
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris
0.010 GeneticVariation BEFREE Association of the CYP17 MSP AI (T-34C) and CYP19 codon 39 (Trp/Arg) polymorphisms with susceptibility to acne vulgaris. 29285776

2018

Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome
0.010 Biomarker BEFREE Intestinal absorption mechanisms of 2'-deoxy-2'-β-fluoro-4'-azidocytidine, a cytidine analog for AIDS treatment, and its interaction with P-glycoprotein, multidrug resistance-associated protein 2 and breast cancer resistance protein. 28487144

2018

Entrez Id: 1244
Gene Symbol: ABCC2
ABCC2
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome
0.010 Biomarker BEFREE Intestinal absorption mechanisms of 2'-deoxy-2'-β-fluoro-4'-azidocytidine, a cytidine analog for AIDS treatment, and its interaction with P-glycoprotein, multidrug resistance-associated protein 2 and breast cancer resistance protein. 28487144

2018

Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
CUI: C0001206
Disease: Acromegaly
Acromegaly
0.010 Biomarker BEFREE Multihormonal pituitary adenoma concomitant with Pit-1 and Tpit lineage cells causing acromegaly associated with subclinical Cushing's disease: a case report. 28865461

2018

Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1
CUI: C0001206
Disease: Acromegaly
Acromegaly
0.010 Biomarker BEFREE Multihormonal pituitary adenoma concomitant with Pit-1 and Tpit lineage cells causing acromegaly associated with subclinical Cushing's disease: a case report. 28865461

2018

Entrez Id: 9447
Gene Symbol: AIM2
AIM2
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.010 AlteredExpression BEFREE The expression and activation of the AIM2 inflammasome correlates with inflammation and disease severity in patients with acute pancreatitis. 28342645

2018

Entrez Id: 90865
Gene Symbol: IL33
IL33
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 AlteredExpression BEFREE Lower expression level of IL-33 is associated with poor prognosis of pulmonary adenocarcinoma. 29499051

2018

Entrez Id: 6059
Gene Symbol: ABCE1
ABCE1
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 Biomarker BEFREE Deficiency of Functional Iron-Sulfur Domains in ABCE1 Inhibits the Proliferation and Migration of Lung Adenocarcinomas By Regulating the Biogenesis of Beta-Actin In Vitro. 29145194

2018

Entrez Id: 9111
Gene Symbol: NMI
NMI
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 AlteredExpression BEFREE Downregulation of NMI promotes tumor growth and predicts poor prognosis in human lung adenocarcinomas. 29025423

2018

Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 Biomarker BEFREE PHGDH Defines a Metabolic Subtype in Lung Adenocarcinomas with Poor Prognosis. 28614715

2018

Entrez Id: 10551
Gene Symbol: AGR2
AGR2
CUI: C0001430
Disease: Adenoma
Adenoma
0.010 Biomarker BEFREE FOXM1 activates AGR2 and causes progression of lung adenomas into invasive mucinous adenocarcinomas. 29267283

2018

Entrez Id: 284654
Gene Symbol: RSPO1
RSPO1
CUI: C0001430
Disease: Adenoma
Adenoma
0.010 Biomarker BEFREE Comprehensive characterization of RSPO fusions in colorectal traditional serrated adenomas. 28543708

2018

Entrez Id: 1268
Gene Symbol: CNR1
CNR1
CUI: C0001787
Disease: Osteoporosis, Age-Related
Osteoporosis, Age-Related
0.010 Biomarker BEFREE Combined deficiency of the Cnr1 and Cnr2 receptors protects against age-related bone loss by osteoclast inhibition. 28752643

2018

Entrez Id: 7307
Gene Symbol: U2AF1
U2AF1
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.010 Biomarker BEFREE Mutations in mRNA splicing genes, especially in U2AF1, were significantly more frequent in PMF than in post-PV/ET MF (33 vs. 6%; P = 0.015). 28464892

2018