Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6530
Gene name	Solute carrier family 6 member 2
Gene symbol	SLC6A2
Synonyms (NCBI Gene)	NAT1NETNET1SLC6A5
Chromosome	16
Chromosome location	16q12.2
Summary	This gene encodes a member of the sodium:neurotransmitter symporter family. This member is a multi-pass membrane protein, which is responsible for reuptake of norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine homeostasis

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918126	G>A,C,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, 3 prime UTR variant

Show/Hide all (48)

miRTarBase ID	miRNA	Experiments
MIRT1366302	hsa-miR-1321	CLIP-seq
MIRT1366303	hsa-miR-150	CLIP-seq
MIRT1366304	hsa-miR-19a	CLIP-seq
MIRT1366305	hsa-miR-19b	CLIP-seq
MIRT1366306	hsa-miR-3665	CLIP-seq
MIRT1366307	hsa-miR-3934	CLIP-seq
MIRT1366308	hsa-miR-3944-5p	CLIP-seq
MIRT1366309	hsa-miR-4419a	CLIP-seq
MIRT1366310	hsa-miR-4510	CLIP-seq
MIRT1366311	hsa-miR-4715-3p	CLIP-seq
MIRT1366312	hsa-miR-4739	CLIP-seq
MIRT1366313	hsa-miR-4756-5p	CLIP-seq
MIRT1366314	hsa-miR-485-5p	CLIP-seq
MIRT1366315	hsa-miR-657	CLIP-seq
MIRT1366316	hsa-miR-3074-5p	CLIP-seq
MIRT1366317	hsa-miR-3591-3p	CLIP-seq
MIRT1366318	hsa-miR-3616-3p	CLIP-seq
MIRT1366319	hsa-miR-4685-5p	CLIP-seq
MIRT1366320	hsa-miR-4733-5p	CLIP-seq
MIRT1366321	hsa-miR-4773	CLIP-seq
MIRT1366322	hsa-miR-548a-3p	CLIP-seq
MIRT1366323	hsa-miR-548e	CLIP-seq
MIRT1366324	hsa-miR-548f	CLIP-seq
MIRT1366325	hsa-miR-549	CLIP-seq
MIRT1366326	hsa-miR-198	CLIP-seq
MIRT1366327	hsa-miR-3973	CLIP-seq
MIRT1366328	hsa-miR-520g	CLIP-seq
MIRT1366329	hsa-miR-520h	CLIP-seq
MIRT1366330	hsa-miR-548c-3p	CLIP-seq
MIRT2332369	hsa-miR-23a	CLIP-seq
MIRT2332370	hsa-miR-23b	CLIP-seq
MIRT2332371	hsa-miR-23c	CLIP-seq
MIRT2459859	hsa-miR-1224-3p	CLIP-seq
MIRT2459860	hsa-miR-1224-5p	CLIP-seq
MIRT2459861	hsa-miR-1294	CLIP-seq
MIRT2459862	hsa-miR-3176	CLIP-seq
MIRT2459863	hsa-miR-3922-3p	CLIP-seq
MIRT2459864	hsa-miR-4312	CLIP-seq
MIRT2459865	hsa-miR-4316	CLIP-seq
MIRT2459866	hsa-miR-4751	CLIP-seq
MIRT2459859	hsa-miR-1224-3p	CLIP-seq
MIRT2459860	hsa-miR-1224-5p	CLIP-seq
MIRT2459861	hsa-miR-1294	CLIP-seq
MIRT2459862	hsa-miR-3176	CLIP-seq
MIRT2459863	hsa-miR-3922-3p	CLIP-seq
MIRT2459864	hsa-miR-4312	CLIP-seq
MIRT2459865	hsa-miR-4316	CLIP-seq
MIRT2459866	hsa-miR-4751	CLIP-seq

Show/Hide all (53)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IPI	18331289
GO:0005326	Function	Neurotransmitter transmembrane transporter activity	IEA
GO:0005326	Function	Neurotransmitter transmembrane transporter activity	ISS
GO:0005328	Function	Neurotransmitter:sodium symporter activity	IEA
GO:0005330	Function	Dopamine:sodium symporter activity	IBA
GO:0005330	Function	Dopamine:sodium symporter activity	IDA	8125921, 11093780
GO:0005334	Function	Norepinephrine:sodium symporter activity	IBA
GO:0005334	Function	Norepinephrine:sodium symporter activity	IDA	2008212, 8125921, 11875370
GO:0005334	Function	Norepinephrine:sodium symporter activity	IEA
GO:0005334	Function	Norepinephrine:sodium symporter activity	TAS	2008212
GO:0005515	Function	Protein binding	IPI	11343649, 17156375, 18331289
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11343649
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	2008212
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006836	Process	Neurotransmitter transport	ISS
GO:0006865	Process	Amino acid transport	IBA
GO:0007268	Process	Chemical synaptic transmission	TAS	2008212
GO:0008504	Function	Monoamine transmembrane transporter activity	IDA	16024787
GO:0008504	Function	Monoamine transmembrane transporter activity	IEA
GO:0008504	Function	Monoamine transmembrane transporter activity	ISS
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009986	Component	Cell surface	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0015378	Function	Sodium:chloride symporter activity	IEA
GO:0015844	Process	Monoamine transport	IDA	16024787
GO:0015874	Process	Norepinephrine transport	IBA
GO:0015874	Process	Norepinephrine transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	2008212
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0032809	Component	Neuronal cell body membrane	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0042734	Component	Presynaptic membrane	IBA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043014	Function	Alpha-tubulin binding	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048265	Process	Response to pain	IEA
GO:0048487	Function	Beta-tubulin binding	IEA
GO:0051583	Process	Dopamine uptake involved in synaptic transmission	IBA
GO:0051620	Process	Norepinephrine uptake	IEA
GO:0051620	Process	Norepinephrine uptake	ISS
GO:0070050	Process	Neuron cellular homeostasis	TAS	18331289
GO:0090493	Process	Catecholamine uptake	IEA
GO:0098810	Process	Neurotransmitter reuptake	IEA
GO:1902476	Process	Chloride transmembrane transport	IEA

MIM	HGNC	e!Ensembl
163970	11048	ENSG00000103546

P23975

Protein name

Sodium-dependent noradrenaline transporter (Norepinephrine transporter) (NET) (Solute carrier family 6 member 2)

Protein function

Mediates sodium- and chloride-dependent transport of norepinephrine (also known as noradrenaline), the primary signaling neurotransmitter in the autonomic sympathetic nervous system (PubMed:2008212, PubMed:8125921, PubMed:38750358). Is responsib

PDB

8HFE , 8HFF , 8HFG , 8HFI , 8HFL , 8I3V , 8WGR , 8WGX , 8WTU , 8WTV , 8WTW , 8WTX , 8WTY , 8XB2 , 8XB3 , 8XB4 , 8Y8Z , 8Y90 , 8Y91 , 8Y92 , 8Y93 , 8Y94 , 8Y95 , 8YR2 , 8Z1L , 8ZOY , 8ZP1 , 8ZP2 , 8ZPB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00209	SNF	56 → 580	Sodium:neurotransmitter symporter family	Family

Sequence

MLLARMNPQVQPENNGADTGPEQPLRARKTAELLVVKERNGVQCLLAPRDGDAQPRETWG
KKIDFLLSVVGFAVDLANVWRFPYLCYKNGGGAFLIPYTLFLIIAGMPLFYMELALGQYN
REGAATVWKICPFFKGVGYAVILIALYVGFYYNVIIAWSLYYLFSSFTLNLPWTDCGHTW
NSPNCTDPKLLNGSVLGNHTKYSKYKFTPAAEFYERGVLHLHESSGIHDIGLPQWQLLLC
LMVVVIVLYFSLWKGVKTSGKVVWITATLPYFVLFVLLVHGVTLPGASNGINAYLHIDFY
RLKEATVWIDAATQIFFSLGAGFGVLIAFASYNKFDNNCYRDALLTSSINCITSFVSGFA
IFSILGYMAHEHKVNIEDVATEGAGLVFILYPEAISTLSGSTFWAVVFFVMLLALGLDSS
MGGMEAVITGLADDFQVLKRHRKLFTFGVTFSTFLLALFCITKGGIYVLTLLDTFAAGTS
ILFAVLMEAIGVSWFYGVDRFSNDIQQMMGFRPGLYWRLCWKFVSPAFLLFVVVVSIINF
KPLTYDDYIFPPWANWVGWGIALSSMVLVPIYVIYKFLSTQGSLWERLAYGITPENEHHL
VAQRDIRQFQLQHWLAI

Sequence length

617

Interactions

View interactions

	KEGG		Reactome
	Synaptic vesicle cycle		Na+/Cl- dependent neurotransmitter transporters Defective SLC6A2 causes orthostatic intolerance (OI)

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurocirculatory asthenia	Pathogenic	rs121918126	RCV000015043	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC EMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER, TREATMENT-RESISTANT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALDOSTERONISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECURRENT DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC6A2-related disorder	Likely benign; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (173)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute pancreatitis	Pancreatitis	BEFREE	31593553		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	29237910		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	28024920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	21335363, 22407736, 27811202, 30026780, 31330766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agoraphobia	Agoraphobia	LHGDN	15722184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	12140790, 12784104, 14508509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	LHGDN	12140790		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	18629431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	26212818, 30341278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	18629431, 28188993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	BEFREE	31555859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	17146058, 18937296, 20929549, 21569456, 22297068, 22591463, 24978879, 26678348, 26746237, 31383926, 31426340, 31711956, 34573389	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	11920844, 14681910, 15717291, 15719398, 15950014, 16969268, 17146058, 17876324, 17994190, 18163388, 18214863, 18552510, 18591486, 18937296, 19387424 View all (24 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Auditory Perceptual Disorders	Auditory perceptual disorder	Pubtator	27230021, 31711956	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	24381062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31138830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	BEFREE	12805287, 18591486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	12097806, 17654409, 7615302		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	12097806, 17654409, 7615302		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	LHGDN	17654409		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	10507782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	17654409		★★★★★ ★☆☆☆☆ Found in Text Mining only
BRACHYDACTYLY, TYPE D	Brachydactyly	BEFREE	30904854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	20235875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	21979892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	14517345, 21857017, 29907248, 31048354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27720787	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	17654409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12115476, 29091800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	10507782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31048354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	16741311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	29237910		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	27482646, 28098761, 29307515, 29521944, 29561272, 30095460, 30098710, 31422400, 31428952, 31511024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	17404580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	22664639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	16785272, 27046647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	BEFREE	29599164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	12115476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chorea Acanthocytosis Syndrome	Chorea	BEFREE	29253590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	27844334		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28285641, 28506850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	15911120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30715224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28394712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	15911120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	14668769, 16166553, 27844334		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	31114589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dentinogenesis Imperfecta	Dentinogenesis Imperfecta	BEFREE	19029076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	18081710, 18591486, 18973248, 19105200, 19468717, 20070865, 23969988, 24655776, 25650523, 25990886, 28068779, 28737436, 29016993, 29331709, 30238915, 30773040, 30957546, 31442583 View all (3 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	23636256, 23969988, 24655776, 25422957, 25650523		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	30957546	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder Major	Major depressive disorder	Pubtator	24312678	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	39203776	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	17124432, 27335338, 29924943, 31217526		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17124432, 27335338, 29924943, 31217526		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17124432, 31377977		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	31426112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	31383926	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
dopamine beta hydroxylase deficiency		Pubtator	10684912	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
dopamine beta hydroxylase deficiency		Pubtator	10684912, 24312678	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	18591486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	31074241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	29693365	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	15911120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	23117913, 27046647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	BEFREE	30255202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Functional Gastrointestinal Disorders	Functional Gastrointestinal Disorders	BEFREE	15138209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	31109382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	16552434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastro-enteropancreatic neuroendocrine tumor	Digestive system neuroendocrine neoplasm	BEFREE	26348352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	31301733		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	15911120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	10206236, 16969268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	31113438		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	BEFREE	29199013, 29469601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27515310	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	31173429, 31382921, 31640611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	22533655	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	14668769, 16166553		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	28283864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	14620922, 22533655, 30957546	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension	Hypertension	Pubtator	21844155	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	14620922, 17124432, 23633414, 27470511, 28737436, 30957546		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	LHGDN	14620922		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	22533655		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30664566		★★★★★ ★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	26905068, 30852831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	15138209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	28225311, 29521944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	15911120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	16407544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12791828, 18214716, 21072068, 22378020, 23636606, 27216880, 28213878, 29423111, 30301500, 30867719, 31068823, 31544556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	12791828, 31068823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	29145657		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	31511024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	29588275, 30915077, 31661552		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	28283864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	10512149, 11927173, 15118352, 15539861, 17353941, 17917281, 18779921, 19105200, 19564048, 20588071, 22727709, 23648227, 24312678, 24374057, 24655776 View all (14 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	24312678, 24655776, 25512257, 25650523, 26061302		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Carcinoid Syndrome	Carcinoid tumor of intestine	BEFREE	29142475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	31173429, 31382921, 31640611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	14517345, 21857017, 29907248, 31048354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18473355, 31048354, 31712234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	10507782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21681495, 26080853, 28394712, 31048354, 31074241, 31301733		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	31550712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	BEFREE	29952421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melancholia	Melancholia	BEFREE	20588071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	18081710, 18591486, 18973248, 19105200, 19468717, 20070865, 23969988, 24655776, 25650523, 25990886, 28068779, 28737436, 29016993, 29331709, 30238915, 30773040, 30957546, 31442583 View all (3 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	23636256, 23969988, 24655776, 25422957, 25650523		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	25739526, 27980046, 29016875		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	31533348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	ORPHANET_DG	10684912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	11927173, 17654409		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	11927173, 17654409, 21547899		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement Disorders	BEFREE	28418735		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	19294466, 22690831, 28225311, 28429092, 28567607, 28940393		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 2a	Multiple Endocrine Neoplasia	LHGDN	16189177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	28229024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14517345, 16552434, 17699847, 19287510, 21421857, 21979892, 22732316, 23582916, 25120831, 27566252, 28213878, 28454229, 28810646, 29145657, 29217738 View all (17 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28477684		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	10899926, 29673366, 32660596, 37885116, 7517173	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15710233, 21421857, 27654664, 28864611, 29097943, 30537383, 31268317, 31283215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurocirculatory Asthenia	Neurocirculatory Asthenia	ORPHANET_DG	10684912		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29172120, 30891139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	28567607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	LHGDN	18196892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	20049409, 25947577, 27222126, 27482646, 27592118, 28213878, 28225311, 28289088, 28455360, 28614007, 28614036, 28704096, 28856815, 28864611, 29091800 View all (12 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	31301733		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutrophilia (disorder)	Neutrophilia	BEFREE	31552036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28953935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26459749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	16272960, 27611116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	12589229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Endocrine Carcinoma	Pancreatic Endocrine Carcinoma	BEFREE	28455360, 29912000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	28098761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	12401556, 15722184, 16785272, 18629431, 21416264, 24312678, 26508020, 27046647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	LHGDN	15722184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic disorder	Pubtator	24312678	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30361900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	22407736, 28864611, 31330766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	18973248, 21147074, 28418735, 28477684, 28712000, 31682948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	21147074, 39855312	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	26508020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	28418735		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	BEFREE	29162745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	24381062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	22407736, 30026780, 31330766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Phobic anxiety disorder	Phobic Anxiety Disorder	BEFREE	18629431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	28829492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	28829492	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyposis, Gastric	Gastric polyposis	BEFREE	25007176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Postural orthostatic tachycardia syndrome due to NET deficiency	Postural Orthostatic Tachycardia Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism, Type I	Pseudohypoaldosteronism	BEFREE	24712576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent depression	Mental Depression	BEFREE	18081710		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Recurrent depression	Mental Depression	PSYGENET_DG	18081710, 23969988		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinoblastoma	Retinoblastoma	BEFREE	22761470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30915077, 31661552		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	12097806, 21396926, 25450228, 28454051, 29431473		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	12097806, 20543991		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	29032150	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Single Seizure	Seizure	CTD_human_DG	15911120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	29130366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	18473355, 27566252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	24196235, 26080853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28247912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	15911120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	10512149, 11927173, 15118352, 15539861, 17353941, 17917281, 18779921, 19105200, 19564048, 20588071, 22727709, 23648227, 24312678, 24374057, 24655776 View all (8 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	24312678, 24655776, 25512257, 25650523, 26061302		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vasculitis	Vasculitis	BEFREE	27426444, 31138830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	15911120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	LHGDN	16189177		★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC6A2 (solute carrier family 6 member 2)