ADRA2A (adrenoceptor alpha 2A)

Gene

• Entrez ID: 150
• Gene name: Adrenoceptor alpha 2A
• Gene symbol: ADRA2A
• Synonyms (NCBI Gene): ADRA2, ADRA2R, ADRAR, ALPHA2AAR, FPLD8, ZNF32
• Chromosome: 10
• Chromosome location: 10q25.2
• Summary: Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. The alpha-2-adrenergic receptors are a type of adrenergic receptors (for adrenaline or epinephrine), which inhibit adenylate cyclase. These receptors include 3 highly

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029792	hsa-miR-26b-5p	Microarray	19088304
MIRT769817	hsa-miR-106a	CLIP-seq
MIRT769818	hsa-miR-106b	CLIP-seq
MIRT769819	hsa-miR-1179	CLIP-seq
MIRT769820	hsa-miR-1207-5p	CLIP-seq
MIRT769821	hsa-miR-1226	CLIP-seq
MIRT769822	hsa-miR-1271	CLIP-seq
MIRT769823	hsa-miR-1291	CLIP-seq
MIRT769824	hsa-miR-1294	CLIP-seq
MIRT769825	hsa-miR-135a	CLIP-seq
MIRT769826	hsa-miR-135b	CLIP-seq
MIRT769827	hsa-miR-138	CLIP-seq
MIRT769828	hsa-miR-141	CLIP-seq
MIRT769829	hsa-miR-148a	CLIP-seq
MIRT769830	hsa-miR-148b	CLIP-seq
MIRT769831	hsa-miR-152	CLIP-seq
MIRT769832	hsa-miR-17	CLIP-seq
MIRT769833	hsa-miR-182	CLIP-seq
MIRT769834	hsa-miR-1825	CLIP-seq
MIRT769835	hsa-miR-1827	CLIP-seq
MIRT769836	hsa-miR-185	CLIP-seq
MIRT769837	hsa-miR-199a-5p	CLIP-seq
MIRT769838	hsa-miR-199b-5p	CLIP-seq
MIRT769839	hsa-miR-200a	CLIP-seq
MIRT769840	hsa-miR-20a	CLIP-seq
MIRT769841	hsa-miR-20b	CLIP-seq
MIRT769842	hsa-miR-216a	CLIP-seq
MIRT769843	hsa-miR-2355-5p	CLIP-seq
MIRT769844	hsa-miR-296-5p	CLIP-seq
MIRT769845	hsa-miR-3065-3p	CLIP-seq
MIRT769846	hsa-miR-3119	CLIP-seq
MIRT769847	hsa-miR-3123	CLIP-seq
MIRT769848	hsa-miR-3126-5p	CLIP-seq
MIRT769849	hsa-miR-3150a-3p	CLIP-seq
MIRT769850	hsa-miR-3158-3p	CLIP-seq
MIRT769851	hsa-miR-3174	CLIP-seq
MIRT769852	hsa-miR-3175	CLIP-seq
MIRT769853	hsa-miR-3184	CLIP-seq
MIRT769854	hsa-miR-3189-5p	CLIP-seq
MIRT769855	hsa-miR-3194-3p	CLIP-seq
MIRT769856	hsa-miR-328	CLIP-seq
MIRT769857	hsa-miR-330-3p	CLIP-seq
MIRT769858	hsa-miR-339-5p	CLIP-seq
MIRT769859	hsa-miR-33a	CLIP-seq
MIRT769860	hsa-miR-33b	CLIP-seq
MIRT769861	hsa-miR-3591-3p	CLIP-seq
MIRT769862	hsa-miR-3609	CLIP-seq
MIRT769863	hsa-miR-3613-3p	CLIP-seq
MIRT769864	hsa-miR-3616-3p	CLIP-seq
MIRT769865	hsa-miR-3675-5p	CLIP-seq
MIRT769866	hsa-miR-3677-5p	CLIP-seq
MIRT769867	hsa-miR-3679-3p	CLIP-seq
MIRT769868	hsa-miR-371-5p	CLIP-seq
MIRT769869	hsa-miR-371b-5p	CLIP-seq
MIRT769870	hsa-miR-376c	CLIP-seq
MIRT769871	hsa-miR-3919	CLIP-seq
MIRT769872	hsa-miR-3978	CLIP-seq
MIRT769873	hsa-miR-423-5p	CLIP-seq
MIRT769874	hsa-miR-4254	CLIP-seq
MIRT769875	hsa-miR-4280	CLIP-seq
MIRT769876	hsa-miR-4299	CLIP-seq
MIRT769877	hsa-miR-4306	CLIP-seq
MIRT769878	hsa-miR-4308	CLIP-seq
MIRT769879	hsa-miR-4311	CLIP-seq
MIRT769880	hsa-miR-4316	CLIP-seq
MIRT769881	hsa-miR-4327	CLIP-seq
MIRT769882	hsa-miR-4419a	CLIP-seq
MIRT769883	hsa-miR-4424	CLIP-seq
MIRT769884	hsa-miR-4436b-3p	CLIP-seq
MIRT769885	hsa-miR-4446-3p	CLIP-seq
MIRT769886	hsa-miR-4446-5p	CLIP-seq
MIRT769887	hsa-miR-4459	CLIP-seq
MIRT769888	hsa-miR-4470	CLIP-seq
MIRT769889	hsa-miR-4475	CLIP-seq
MIRT769890	hsa-miR-4488	CLIP-seq
MIRT769891	hsa-miR-4508	CLIP-seq
MIRT769892	hsa-miR-4510	CLIP-seq
MIRT769893	hsa-miR-4514	CLIP-seq
MIRT769894	hsa-miR-4519	CLIP-seq
MIRT769895	hsa-miR-4520a-3p	CLIP-seq
MIRT769896	hsa-miR-4525	CLIP-seq
MIRT769897	hsa-miR-4644	CLIP-seq
MIRT769898	hsa-miR-4656	CLIP-seq
MIRT769899	hsa-miR-4659a-3p	CLIP-seq
MIRT769900	hsa-miR-4659b-3p	CLIP-seq
MIRT769901	hsa-miR-4672	CLIP-seq
MIRT769902	hsa-miR-4675	CLIP-seq
MIRT769903	hsa-miR-4677-3p	CLIP-seq
MIRT769904	hsa-miR-4688	CLIP-seq
MIRT769905	hsa-miR-4692	CLIP-seq
MIRT769906	hsa-miR-4697-5p	CLIP-seq
MIRT769907	hsa-miR-4699-3p	CLIP-seq
MIRT769908	hsa-miR-4704-3p	CLIP-seq
MIRT769909	hsa-miR-4709-3p	CLIP-seq
MIRT769910	hsa-miR-4711-5p	CLIP-seq
MIRT769911	hsa-miR-4718	CLIP-seq
MIRT769912	hsa-miR-4721	CLIP-seq
MIRT769913	hsa-miR-4722-5p	CLIP-seq
MIRT769914	hsa-miR-4728-5p	CLIP-seq
MIRT769915	hsa-miR-4729	CLIP-seq
MIRT769916	hsa-miR-4733-3p	CLIP-seq
MIRT769917	hsa-miR-4736	CLIP-seq
MIRT769918	hsa-miR-4741	CLIP-seq
MIRT769919	hsa-miR-4755-5p	CLIP-seq
MIRT769920	hsa-miR-4756-3p	CLIP-seq
MIRT769921	hsa-miR-4763-3p	CLIP-seq
MIRT769922	hsa-miR-4778-3p	CLIP-seq
MIRT769923	hsa-miR-4779	CLIP-seq
MIRT769924	hsa-miR-4781-5p	CLIP-seq
MIRT769925	hsa-miR-4789-5p	CLIP-seq
MIRT769926	hsa-miR-4796-3p	CLIP-seq
MIRT769927	hsa-miR-486-3p	CLIP-seq
MIRT769928	hsa-miR-498	CLIP-seq
MIRT769929	hsa-miR-518a-5p	CLIP-seq
MIRT769930	hsa-miR-519d	CLIP-seq
MIRT769931	hsa-miR-520f	CLIP-seq
MIRT769932	hsa-miR-527	CLIP-seq
MIRT769933	hsa-miR-548ad	CLIP-seq
MIRT769934	hsa-miR-548ah	CLIP-seq
MIRT769935	hsa-miR-570	CLIP-seq
MIRT769936	hsa-miR-582-5p	CLIP-seq
MIRT769937	hsa-miR-636	CLIP-seq
MIRT769938	hsa-miR-663b	CLIP-seq
MIRT769939	hsa-miR-670	CLIP-seq
MIRT769940	hsa-miR-873	CLIP-seq
MIRT769941	hsa-miR-875-3p	CLIP-seq
MIRT769942	hsa-miR-93	CLIP-seq
MIRT769943	hsa-miR-938	CLIP-seq
MIRT769944	hsa-miR-939	CLIP-seq
MIRT769945	hsa-miR-940	CLIP-seq
MIRT769946	hsa-miR-96	CLIP-seq
MIRT1927076	hsa-miR-3692	CLIP-seq
MIRT1927077	hsa-miR-3977	CLIP-seq
MIRT1927078	hsa-miR-4464	CLIP-seq
MIRT1927079	hsa-miR-4748	CLIP-seq
MIRT769922	hsa-miR-4778-3p	CLIP-seq
MIRT769820	hsa-miR-1207-5p	CLIP-seq
MIRT769822	hsa-miR-1271	CLIP-seq
MIRT2167980	hsa-miR-1289	CLIP-seq
MIRT2167981	hsa-miR-1324	CLIP-seq
MIRT769833	hsa-miR-182	CLIP-seq
MIRT769843	hsa-miR-2355-5p	CLIP-seq
MIRT769845	hsa-miR-3065-3p	CLIP-seq
MIRT769848	hsa-miR-3126-5p	CLIP-seq
MIRT769849	hsa-miR-3150a-3p	CLIP-seq
MIRT769850	hsa-miR-3158-3p	CLIP-seq
MIRT769853	hsa-miR-3184	CLIP-seq
MIRT2167982	hsa-miR-3189-3p	CLIP-seq
MIRT2167983	hsa-miR-3198	CLIP-seq
MIRT2167984	hsa-miR-346	CLIP-seq
MIRT2167985	hsa-miR-34a	CLIP-seq
MIRT2167986	hsa-miR-34c-5p	CLIP-seq
MIRT769861	hsa-miR-3591-3p	CLIP-seq
MIRT769866	hsa-miR-3677-5p	CLIP-seq
MIRT769867	hsa-miR-3679-3p	CLIP-seq
MIRT1927076	hsa-miR-3692	CLIP-seq
MIRT769870	hsa-miR-376c	CLIP-seq
MIRT1927077	hsa-miR-3977	CLIP-seq
MIRT769873	hsa-miR-423-5p	CLIP-seq
MIRT2167987	hsa-miR-4288	CLIP-seq
MIRT2167988	hsa-miR-4294	CLIP-seq
MIRT2167989	hsa-miR-4309	CLIP-seq
MIRT2167990	hsa-miR-431	CLIP-seq
MIRT2167991	hsa-miR-432	CLIP-seq
MIRT2167992	hsa-miR-4436b-5p	CLIP-seq
MIRT769887	hsa-miR-4459	CLIP-seq
MIRT1927078	hsa-miR-4464	CLIP-seq
MIRT2167993	hsa-miR-449a	CLIP-seq
MIRT2167994	hsa-miR-449b	CLIP-seq
MIRT769891	hsa-miR-4508	CLIP-seq
MIRT769904	hsa-miR-4688	CLIP-seq
MIRT769907	hsa-miR-4699-3p	CLIP-seq
MIRT2167995	hsa-miR-4711-3p	CLIP-seq
MIRT769913	hsa-miR-4722-5p	CLIP-seq
MIRT1927079	hsa-miR-4748	CLIP-seq
MIRT769921	hsa-miR-4763-3p	CLIP-seq
MIRT769922	hsa-miR-4778-3p	CLIP-seq
MIRT769923	hsa-miR-4779	CLIP-seq
MIRT2167996	hsa-miR-483-3p	CLIP-seq
MIRT769927	hsa-miR-486-3p	CLIP-seq
MIRT2167997	hsa-miR-548ac	CLIP-seq
MIRT2167998	hsa-miR-548ae	CLIP-seq
MIRT2167999	hsa-miR-548aj	CLIP-seq
MIRT2168000	hsa-miR-548am	CLIP-seq
MIRT2168001	hsa-miR-548d-3p	CLIP-seq
MIRT2168002	hsa-miR-548x	CLIP-seq
MIRT2168003	hsa-miR-548z	CLIP-seq
MIRT2168004	hsa-miR-632	CLIP-seq
MIRT2168005	hsa-miR-640	CLIP-seq
MIRT2168006	hsa-miR-646	CLIP-seq
MIRT2168007	hsa-miR-654-3p	CLIP-seq
MIRT769946	hsa-miR-96	CLIP-seq
MIRT769828	hsa-miR-141	CLIP-seq
MIRT769836	hsa-miR-185	CLIP-seq
MIRT769839	hsa-miR-200a	CLIP-seq
MIRT769872	hsa-miR-3978	CLIP-seq
MIRT769877	hsa-miR-4306	CLIP-seq
MIRT769881	hsa-miR-4327	CLIP-seq
MIRT769897	hsa-miR-4644	CLIP-seq
MIRT769941	hsa-miR-875-3p	CLIP-seq
MIRT769820	hsa-miR-1207-5p	CLIP-seq
MIRT769822	hsa-miR-1271	CLIP-seq
MIRT2470519	hsa-miR-1305	CLIP-seq
MIRT769833	hsa-miR-182	CLIP-seq
MIRT769917	hsa-miR-4736	CLIP-seq
MIRT769921	hsa-miR-4763-3p	CLIP-seq
MIRT2470520	hsa-miR-511	CLIP-seq
MIRT769946	hsa-miR-96	CLIP-seq
MIRT769820	hsa-miR-1207-5p	CLIP-seq
MIRT2674631	hsa-miR-1258	CLIP-seq
MIRT769822	hsa-miR-1271	CLIP-seq
MIRT2470519	hsa-miR-1305	CLIP-seq
MIRT769833	hsa-miR-182	CLIP-seq
MIRT2674632	hsa-miR-3148	CLIP-seq
MIRT2674633	hsa-miR-3622a-5p	CLIP-seq
MIRT2674634	hsa-miR-4423-3p	CLIP-seq
MIRT769895	hsa-miR-4520a-3p	CLIP-seq
MIRT2674635	hsa-miR-4694-3p	CLIP-seq
MIRT769917	hsa-miR-4736	CLIP-seq
MIRT769921	hsa-miR-4763-3p	CLIP-seq
MIRT2470520	hsa-miR-511	CLIP-seq
MIRT769946	hsa-miR-96	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001819	Process	Positive regulation of cytokine production	IDA	17655843
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004935	Function	Adrenergic receptor activity	IEA
GO:0004938	Function	Alpha2-adrenergic receptor activity	EXP	10948191
GO:0004938	Function	Alpha2-adrenergic receptor activity	IBA
GO:0004938	Function	Alpha2-adrenergic receptor activity	IDA	10948191
GO:0004938	Function	Alpha2-adrenergic receptor activity	IEA
GO:0004938	Function	Alpha2-adrenergic receptor activity	IMP	35245122
GO:0004938	Function	Alpha2-adrenergic receptor activity	ISS	1354394
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005515	Function	Protein binding	IPI	16531006
GO:0005737	Component	Cytoplasm	IDA	19477270
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	2823383, 10948191, 10948198
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006260	Process	DNA replication	IEA
GO:0006940	Process	Regulation of smooth muscle contraction	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IDA	17215105, 17655843
GO:0007186	Process	G protein-coupled receptor signaling pathway	IDA	17215105, 17655843
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	ISS	19965390
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	ISS	12529373
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	ISS	1354394
GO:0007265	Process	Ras protein signal transduction	TAS	8226727
GO:0007266	Process	Rho protein signal transduction	TAS	9624180
GO:0007565	Process	Female pregnancy	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	TAS	10896916
GO:0010700	Process	Negative regulation of norepinephrine secretion	ISS
GO:0010700	Process	Negative regulation of norepinephrine secretion	NAS	16531006
GO:0010700	Process	Negative regulation of norepinephrine secretion	TAS	19477270
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	TAS	17655843
GO:0019229	Process	Regulation of vasoconstriction	IEA
GO:0019901	Function	Protein kinase binding	IPI	15653687
GO:0030036	Process	Actin cytoskeleton organization	TAS	9624180
GO:0030168	Process	Platelet activation	IEA
GO:0030335	Process	Positive regulation of cell migration	IMP	17655843
GO:0031692	Function	Alpha-1B adrenergic receptor binding	ISS
GO:0031696	Function	Alpha-2C adrenergic receptor binding	IPI	16605244
GO:0031996	Function	Thioesterase binding	IPI	19477270
GO:0032795	Function	Heterotrimeric G-protein binding	IDA	10948191
GO:0032811	Process	Negative regulation of epinephrine secretion	NAS	16531006
GO:0032870	Process	Cellular response to hormone stimulus	IGI	10948198
GO:0042311	Process	Vasodilation	IEA
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042593	Process	Glucose homeostasis	IMP	10952463
GO:0042596	Process	Fear response	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	16605244
GO:0043025	Component	Neuronal cell body	IEA
GO:0043235	Component	Receptor complex	IDA	10948191
GO:0043268	Process	Positive regulation of potassium ion transport	ISS	1354394
GO:0043278	Process	Response to morphine	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	10948191, 19477270
GO:0043679	Component	Axon terminus	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045742	Process	Positive regulation of epidermal growth factor receptor signaling pathway	IDA	17655843
GO:0045955	Process	Negative regulation of calcium ion-dependent exocytosis	IC	10952463
GO:0045955	Process	Negative regulation of calcium ion-dependent exocytosis	IEA
GO:0046676	Process	Negative regulation of insulin secretion	IEA
GO:0046676	Process	Negative regulation of insulin secretion	IMP	10952463
GO:0046676	Process	Negative regulation of insulin secretion	TAS
GO:0046982	Function	Protein heterodimerization activity	IPI	16605244
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0048787	Component	Presynaptic active zone membrane	IEA
GO:0050892	Process	Intestinal absorption	TAS	17655843
GO:0050955	Process	Thermoception	IEA
GO:0050995	Process	Negative regulation of lipid catabolic process	IGI	10948198
GO:0051044	Process	Positive regulation of membrane protein ectodomain proteolysis	IDA	17655843
GO:0051379	Function	Epinephrine binding	IBA
GO:0051379	Function	Epinephrine binding	IDA	2823383, 10948191
GO:0051380	Function	Norepinephrine binding	IDA	2823383
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	17215105
GO:0051926	Process	Negative regulation of calcium ion transport	ISS
GO:0061179	Process	Negative regulation of insulin secretion involved in cellular response to glucose stimulus	IEA
GO:0061179	Process	Negative regulation of insulin secretion involved in cellular response to glucose stimulus	IMP	19965390
GO:0070473	Process	Negative regulation of uterine smooth muscle contraction	IEA
GO:0071875	Process	Adrenergic receptor signaling pathway	IDA	10948191, 19477270
GO:0071880	Process	Adenylate cyclase-activating adrenergic receptor signaling pathway	IDA	15653687
GO:0071880	Process	Adenylate cyclase-activating adrenergic receptor signaling pathway	ISS
GO:0071881	Process	Adenylate cyclase-inhibiting adrenergic receptor signaling pathway	IDA	10948191
GO:0071882	Process	Phospholipase C-activating adrenergic receptor signaling pathway	IDA	10948191
GO:0090303	Process	Positive regulation of wound healing	IMP	17655843
GO:0097305	Process	Response to alcohol	IEA
GO:0098691	Component	Dopaminergic synapse	IEA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099171	Process	Presynaptic modulation of chemical synaptic transmission	IEA

Other IDs

• MIM: 104210
• HGNC: 281
• e!Ensembl: ENSG00000150594

Protein

• UniProt ID: P08913
• Protein name: Alpha-2A adrenergic receptor (Alpha-2 adrenergic receptor subtype C10) (Alpha-2A adrenoreceptor) (Alpha-2A adrenoceptor) (Alpha-2AAR)
• Protein function: Alpha-2 adrenergic receptors mediate the catecholamine-induced inhibition of adenylate cyclase through the action of G proteins. The rank order of potency for agonists of this receptor is oxymetazoline > clonidine > epinephrine > norepinephrine
• PDB: 1HLL, 1HO9, 1HOD, 1HOF, 6K42, 6KUX, 6KUY, 7EJ0, 7EJ8, 7EJA, 7EJK, 7W6P, 7W7E, 9CBL, 9CBM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	50 → 426	7 transmembrane receptor (rhodopsin family)	Family

• Sequence:

  MFRQEQPLAEGSFAPMGSLQPDAGNASWNGTEAPGGGARATPYSLQVTLTLVCLAGLLML
  LTVFGNVLVIIAVFTSRALKAPQNLFLVSLASADILVATLVIPFSLANEVMGYWYFGKAW
  CEIYLALDVLFCTSSIVHLCAISLDRYWSITQAIEYNLKRTPRRIKAIIITVWVISAVIS
  FPPLISIEKKGGGGGPQPAEPRCEINDQKWYVISSCIGSFFAPCLIMILVYVRIYQIAKR
  RTRVPPSRRGPDAVAAPPGGTERRPNGLGPERSAGPGGAEAEPLPTQLNGAPGEPAPAGP
  RDTDALDLEESSSSDHAERPPGPRRPERGPRGKGKARASQVKPGDSLPRRGPGATGIGTP
  AAGPGEERVGAAKASRWRGRQNREKRFTFVLAVVIGVFVVCWFPFFFTYTLTAVGCSVPR
  TLFKFFFWFGYCNSSLNPVIYTIFNHDFRRAFKKILCRGDRKRIV

• Sequence length: 465

Pathways

KEGG:

cGMP-PKG signaling pathway
Neuroactive ligand-receptor interaction
Hormone signaling

Reactome:

Adrenoceptors
Adrenaline signalling through Alpha-2 adrenergic receptor
Adrenaline,noradrenaline inhibits insulin secretion
G alpha (i) signalling events
G alpha (z) signalling events
Surfactant metabolism

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Lipodystrophy, familial partial, type 8	Pathogenic	rs553668	RCV003493358	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ADRA2A-related disorder	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PARTIAL LIPODYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PARTIAL LIPODYSTROPHY KOBBERLING TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PARTIAL LIPODYSTROPHY, TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	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
HYPOTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPODYSTROPHY	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RAYNAUD DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acth-Independent Macronodular Adrenal Hyperplasia	Cushing`s Syndrome	BEFREE	20660048		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	33915198	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	23148572	Associate	★☆☆☆☆ Found in Text Mining only
Asymmetric Septal Hypertrophy	Septal Hypertrophy	BEFREE	30009772		★☆☆☆☆ Found in Text Mining only
Attention Deficit and Disruptive Behavior Disorders	Attention deficit hyperactivity disorder	Pubtator	25964505	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	19922756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	20146095, 20731965, 24978879, 25964505, 27091191, 32791971, 34573389	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	10334470, 11304829, 12815749, 15520832, 16389583, 16806103, 16869226, 17283289, 18314873, 19150055, 19922756, 20731965, 21063237, 21628343, 23083021, 23609393, 23751900, 23824524, 24026714, 24166412, 24178896, 29486545, 30802458		★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	17341653		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	39278467	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	39278467	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	20526338, 29865896	Associate	★☆☆☆☆ Found in Text Mining only
Body Weight	Body weight	Pubtator	34573389	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	25818344	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26563278, 31218733		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26563278, 31218733	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30009772	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	21418144		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	30546415		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	20731965	Associate	★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholecystolithiasis	Pubtator	24556804	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	CTD_human_DG	20083574		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	25404298		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	28117912	Stimulate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	1677644	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	24723553		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	24201118, 24723553		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	24723553		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	20660048		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	11425914, 16333651, 18794646, 21859713		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	16333651, 18794646, 21859713		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	28117912	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	22061269		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	28976299, 36313769	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	22061269, 28481181		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	22061269	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	21325151, 22061269, 23153004, 25946000, 27655316, 37140276	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19965390, 20371458, 21418144, 21455730, 21643948, 22061269, 22992776, 23153004, 23462695, 23526671, 25298321, 25946000, 28028077, 29800730		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	CTD_human_DG	17341653		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	17341653		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	9855534		★☆☆☆☆ Found in Text Mining only
Familial partial lipodystrophy	Partial Lipodystrophy	GENOMICS_ENGLAND_DG	27376152		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	30009772	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	30009772		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	24556804		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	24556804	Associate	★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	BEFREE	24556804		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	18794646		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	CTD_human_DG	16844662		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	Pubtator	27131769	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	34720019	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	19562039	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	10534508, 16636200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	10694191		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	LHGDN	16636200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoglycemia	Hypoglycemia	Pubtator	22061269	Associate	★☆☆☆☆ Found in Text Mining only
Hypotension	Hypotension	Pubtator	21325151	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Impaired cognition	Impaired Cognition	BEFREE	25404298, 30802458		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	19833115		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	22560155		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	10334470		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30009772		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	19401164		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26563278, 31218733		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	24556804		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	11425914, 16333651, 18794646, 21859713		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	16333651, 18794646, 21859713		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Diseases	Metabolic Diseases	BEFREE	26563278		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	26563278	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	21105277		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	PSYGENET_DG	16526032, 9631415		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	BEFREE	9631415		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	27131769	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31218733		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	27805929		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	30009772		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	11886485, 17512307, 21418144, 23526671		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	11886485, 17512307, 39336728	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	25818344, 30033441	Associate	★☆☆☆☆ Found in Text Mining only
Panic Attacks	Panic Disorder	CTD_human_DG	14656453		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	10699231		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Panic Disorder	Panic Disorder	CTD_human_DG	14656453		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	34720019, 37140276	Associate	★☆☆☆☆ Found in Text Mining only
Raynaud Disease	Raynaud disease	Pubtator	37828025	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	17034020, 19439247, 22940547, 25163438		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	17034020, 19439247, 22940547, 25163438		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyrotoxicosis	Thyrotoxicosis	BEFREE	30233491		★☆☆☆☆ Found in Text Mining only
Tic disorder	Tic Disorder	BEFREE	29482474		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	19833115		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	19401164		★☆☆☆☆ Found in Text Mining only
Vasospasm Intracranial	Intracranial vasospasm	Pubtator	37828025	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	29865896	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	29865896	Associate	★☆☆☆☆ Found in Text Mining only