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: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.330 Biomarker disease BEFREE Using both parametric and nonparametric methods, no evidence of linkage between manic-depression and the NET gene was found. 7615302 1995
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.330 Biomarker disease PSYGENET Using both parametric and nonparametric methods, no evidence of linkage between manic-depression and the NET gene was found. 7615302 1995
CUI: C0019348
Disease: Herpes Simplex Infections
Herpes Simplex Infections 		0.010 Biomarker group BEFREE A net +1 frameshift permits synthesis of thymidine kinase from a drug-resistant herpes simplex virus mutant. 8202508 1994
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Southern blot analysis of 66 esophageal adenocarcinomas demonstrated only CTSB and FDFT1 were consistently amplified in eight (12.1%) of the tumors.Neither NAT-1 nor LPL were amplified. 9770500 1998
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		0.020 GeneticVariation disease BEFREE No mutation of likely functional significance was found that distinguished TS patients from healthy controls, indicating that genetic variants of the NET gene are not causally related to Tourette syndrome. 10206236 1999
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 GeneticVariation disease BEFREE This study examined the association of (NAT) 1 and 2 genotypes with the risk of smoking-related bladder cancer. 10507782 1999
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 GeneticVariation disease BEFREE This study examined the association of (NAT) 1 and 2 genotypes with the risk of smoking-related bladder cancer. 10507782 1999
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 GeneticVariation disease BEFREE This study examined the association of (NAT) 1 and 2 genotypes with the risk of smoking-related bladder cancer. 10507782 1999
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.400 Biomarker disease BEFREE These results suggest that the NET gene is unlikely to be involved in the susceptibility to major depression. 10512149 1999
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.400 Biomarker disease BEFREE These results suggest that the NET gene is unlikely to be involved in the susceptibility to major depression. 10512149 1999
CUI: C1535893
Disease: Orthostatic intolerance
Orthostatic intolerance 		0.610 GeneticVariation phenotype UNIPROT In a patient with orthostatic intolerance and her relatives, we measured postural blood pressure, heart rate, plasma catecholamines, and systemic norepinephrine spillover and clearance, and we sequenced the norepinephrine-transporter gene and evaluated its function. 10684912 2000
CUI: C1535893
Disease: Orthostatic intolerance
Orthostatic intolerance 		0.610 GermlineCausalMutation phenotype ORPHANET In a patient with orthostatic intolerance and her relatives, we measured postural blood pressure, heart rate, plasma catecholamines, and systemic norepinephrine spillover and clearance, and we sequenced the norepinephrine-transporter gene and evaluated its function. 10684912 2000
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		0.300 GermlineCausalMutation disease ORPHANET Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency. 10684912 2000
CUI: C0027821
Disease: Neurocirculatory Asthenia
Neurocirculatory Asthenia 		0.300 GermlineCausalMutation disease ORPHANET Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency. 10684912 2000
CUI: C2930833
Disease: Irritable heart
Irritable heart 		0.300 GermlineCausalMutation phenotype ORPHANET Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency. 10684912 2000
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.330 Biomarker disease PSYGENET Association of the N-acetyltransferase I gene (NATI) with mild and severe substance abuse. 10817597 2000
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.030 AlteredExpression disease BEFREE Tyrosine hydroxylase and norepinephrine transporter mRNA expression in the locus coeruleus in Alzheimer's disease. 11113540 2000
CUI: C0343401
Disease: MRSA - Methicillin resistant Staphylococcus aureus infection
MRSA - Methicillin resistant Staphylococcus aureus infection 		0.020 Biomarker disease BEFREE The first study on the molecular characterization of methicillin-resistant Staphylococcus aureus (MRSA) isolates from Colombia was performed as part of a global surveillance established by the CEM/NET Initiative, under Project RESIST. 11310800 2001
CUI: C1535893
Disease: Orthostatic intolerance
Orthostatic intolerance 		0.610 Biomarker phenotype CTD_human Here the hypothesis that abnormal norepinephrine transporter (NET) function might contribute to the pathophysiology in some patients with OI was tested. 11458707 2001
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 GeneticVariation disease BEFREE Familial orthostatic tachycardia due to norepinephrine transporter deficiency. 11458707 2001
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.100 GeneticVariation disease BEFREE Our results do not support the NET1 gene as a major genetic susceptibility factor in ADHD. 11920844 2002
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.400 GeneticVariation disease BEFREE In a case control association study we investigated the newly identified T-182C polymorphism and an already known G1287A polymorphism in exon 9 of the NET gene in a sample of 193 patients with major depression and 136 healthy, non-related controls. 11927173 2002
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.400 GeneticVariation disease BEFREE In a case control association study we investigated the newly identified T-182C polymorphism and an already known G1287A polymorphism in exon 9 of the NET gene in a sample of 193 patients with major depression and 136 healthy, non-related controls. 11927173 2002