SLC6A2, solute carrier family 6 member 2, 6530

N. diseases: 238; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029630
Disease: Other heart block
Other heart block 		0.200 Biomarker phenotype MGD
CUI: C4021099
Disease: Orthostatic tachycardia
Orthostatic tachycardia 		0.100 Biomarker phenotype HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE <b>Conclusion:</b> These results suggest the potential usefulness of FIBG as a diagnostic and therapeutic agent for the management of norepinephrine transporter (NET)-expressing tumors. 29217738 2018
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.400 GeneticVariation disease BEFREE 252 unrelated Caucasian patients (f = 142; m = 110) with major depression were genotyped for NET and 5-HTT polymorphisms. 20588071 2010
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.400 GeneticVariation disease BEFREE 252 unrelated Caucasian patients (f = 142; m = 110) with major depression were genotyped for NET and 5-HTT polymorphisms. 20588071 2010
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 GeneticVariation disease BEFREE Familial orthostatic tachycardia due to norepinephrine transporter deficiency. 11458707 2001
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.020 Biomarker disease BEFREE SCLC is the most common BP-NET, while LCNEC is rare, approximately 10% and < or =1%, respectively, of all lung cancers. 18473355 2008
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors 		0.100 Biomarker group BEFREE Neuroendocrine tumors of the small intestine (SI-NETs) exhibit an increasing incidence and high mortality rate. 27222126 2017
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		0.010 Biomarker disease BEFREE PAF participants were found to have normal abundance of the NE transporter (NET) protein, together with very low levels of tyrosine hydroxylase (TH) (<i>P</i><0.0001) and reduced vesicular monoamine transporter 2 (VMAT2) (<i>P</i><0.05) protein expression compared with control and MSA participants. 29162745 2018
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.010 Biomarker disease BEFREE Malnutrition and dietary modification amongst patients with GEP NET is more prevalent than initially thought: up to 25% of in-patients with GEP NET are malnourished. 31550712 2019
CUI: C0865424
Disease: Adult attention deficit hyperactivity disorder
Adult attention deficit hyperactivity disorder 		0.010 Biomarker disease BEFREE Adult attention-deficit/hyperactivity disorder is associated with reduced norepinephrine transporter availability in right attention networks: a (S,S)-O-[<sup>11</sup>C]methylreboxetine positron emission tomography study. 31732713 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.040 AlteredExpression disease BEFREE NAT-1 overexpression in clinical breast cancers was confirmed at the mRNA level and immunohistochemical analysis of NAT-1 in 108 breast cancer donors demonstrated a strong association of NAT-1 staining with estrogen receptor-positive tumors. 14517345 2003
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.040 AlteredExpression disease BEFREE NAT-1 overexpression in clinical breast cancers was confirmed at the mRNA level and immunohistochemical analysis of NAT-1 in 108 breast cancer donors demonstrated a strong association of NAT-1 staining with estrogen receptor-positive tumors. 14517345 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE NAT-1 overexpression in clinical breast cancers was confirmed at the mRNA level and immunohistochemical analysis of NAT-1 in 108 breast cancer donors demonstrated a strong association of NAT-1 staining with estrogen receptor-positive tumors. 14517345 2003
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.360 Biomarker group LHGDN SLC6A2 may be one of the genes that contribute to hypertension in Japanese. 14620922 2003
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.360 Biomarker group BEFREE SLC6A2 may be one of the genes that contribute to hypertension in Japanese. 14620922 2003
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 GeneticVariation disease BEFREE Norepinephrine transporter gene (NET) polymorphism in patients with type 2 diabetes. 17124432 2006
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.400 GeneticVariation disease BEFREE NET G1287A polymorphism appears not to be an important factor in susceptibility to MDD in a Japanese population. 17917281 2007
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.060 Biomarker disease BEFREE Norepinephrine transporter (NET) binding site concentration in the LC of PD subjects was significantly reduced over the cell body region as well as the peri-LC dendritic zone. 21147074 2011
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		0.020 AlteredExpression disease BEFREE NET-1 expression was significantly enhanced in spindle-cell SSCC (75 %) versus other histological types (P < 0.05). 24196235 2014
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.400 Biomarker disease PSYGENET SLC6A2 variants may predict remission from major depression after venlafaxine treatment in Han Chinese population. 25512257 2015
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.400 GeneticVariation disease BEFREE SLC6A2 variants may predict remission from major depression after venlafaxine treatment in Han Chinese population. 25512257 2015
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.400 Biomarker disease BEFREE NET impairment is evident in several clinically important conditions including major depressive disorder (MDD), panic disorder (PD), essential hypertension and the postural orthostatic tachycardia syndrome (POTS). 27046647 2017
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		0.080 Biomarker disease BEFREE NET impairment is evident in several clinically important conditions including major depressive disorder (MDD), panic disorder (PD), essential hypertension and the postural orthostatic tachycardia syndrome (POTS). 27046647 2017
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.020 Biomarker disease BEFREE NET impairment is evident in several clinically important conditions including major depressive disorder (MDD), panic disorder (PD), essential hypertension and the postural orthostatic tachycardia syndrome (POTS). 27046647 2017