GABRA4 (gamma-aminobutyric acid type A receptor subunit alpha4)

Gene

• Entrez ID: 2557
• Gene name: Gamma-aminobutyric acid type A receptor subunit alpha4
• Gene symbol: GABRA4
• Synonyms (NCBI Gene): -
• Chromosome: 4
• Chromosome location: 4p12
• Summary: Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiaz

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT658015	hsa-miR-3529-3p	HITS-CLIP	23824327
MIRT658018	hsa-miR-548aa	HITS-CLIP	23824327
MIRT658017	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT658016	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT658015	hsa-miR-3529-3p	HITS-CLIP	23824327
MIRT658014	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT658013	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT658014	hsa-miR-3065-5p	HITS-CLIP	27418678
MIRT658014	hsa-miR-3065-5p	HITS-CLIP	27418678
MIRT658015	hsa-miR-3529-3p	HITS-CLIP	27418678
MIRT658015	hsa-miR-3529-3p	HITS-CLIP	27418678
MIRT658015	hsa-miR-3529-3p	HITS-CLIP	27418678
MIRT658015	hsa-miR-3529-3p	HITS-CLIP	27418678
MIRT658015	hsa-miR-3529-3p	HITS-CLIP	27418678
MIRT658018	hsa-miR-548aa	HITS-CLIP	27418678
MIRT658018	hsa-miR-548aa	HITS-CLIP	27418678
MIRT658018	hsa-miR-548aa	HITS-CLIP	27418678
MIRT658017	hsa-miR-548ap-3p	HITS-CLIP	27418678
MIRT658017	hsa-miR-548ap-3p	HITS-CLIP	27418678
MIRT658017	hsa-miR-548ap-3p	HITS-CLIP	27418678
MIRT658016	hsa-miR-548t-3p	HITS-CLIP	27418678
MIRT658016	hsa-miR-548t-3p	HITS-CLIP	27418678
MIRT658016	hsa-miR-548t-3p	HITS-CLIP	27418678
MIRT658013	hsa-miR-6849-3p	HITS-CLIP	27418678
MIRT658015	hsa-miR-3529-3p	HITS-CLIP	23824327
MIRT658018	hsa-miR-548aa	HITS-CLIP	23824327
MIRT658017	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT658016	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT658015	hsa-miR-3529-3p	HITS-CLIP	23824327
MIRT658014	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT658013	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT1009804	hsa-miR-3189-3p	CLIP-seq
MIRT1009805	hsa-miR-362-5p	CLIP-seq
MIRT1009806	hsa-miR-3653	CLIP-seq
MIRT1009807	hsa-miR-3658	CLIP-seq
MIRT1009808	hsa-miR-4778-5p	CLIP-seq
MIRT1009809	hsa-miR-500a	CLIP-seq
MIRT1009810	hsa-miR-500b	CLIP-seq
MIRT1009811	hsa-miR-1254	CLIP-seq
MIRT1009812	hsa-miR-1283	CLIP-seq
MIRT1009813	hsa-miR-1323	CLIP-seq
MIRT1009814	hsa-miR-134	CLIP-seq
MIRT1009815	hsa-miR-147	CLIP-seq
MIRT1009816	hsa-miR-153	CLIP-seq
MIRT1009817	hsa-miR-199a-3p	CLIP-seq
MIRT1009818	hsa-miR-199b-3p	CLIP-seq
MIRT1009819	hsa-miR-19a	CLIP-seq
MIRT1009820	hsa-miR-19b	CLIP-seq
MIRT1009821	hsa-miR-2052	CLIP-seq
MIRT1009822	hsa-miR-2110	CLIP-seq
MIRT1009823	hsa-miR-2355-3p	CLIP-seq
MIRT1009824	hsa-miR-3116	CLIP-seq
MIRT1009825	hsa-miR-3118	CLIP-seq
MIRT1009826	hsa-miR-3129-5p	CLIP-seq
MIRT1009827	hsa-miR-3140-5p	CLIP-seq
MIRT1009828	hsa-miR-3160-5p	CLIP-seq
MIRT1009829	hsa-miR-3164	CLIP-seq
MIRT1009830	hsa-miR-331-5p	CLIP-seq
MIRT1009831	hsa-miR-34b	CLIP-seq
MIRT1009832	hsa-miR-3616-5p	CLIP-seq
MIRT1009833	hsa-miR-3646	CLIP-seq
MIRT1009834	hsa-miR-3647-5p	CLIP-seq
MIRT1009835	hsa-miR-3668	CLIP-seq
MIRT1009836	hsa-miR-3677-5p	CLIP-seq
MIRT1009837	hsa-miR-3689d	CLIP-seq
MIRT1009838	hsa-miR-3926	CLIP-seq
MIRT1009839	hsa-miR-409-3p	CLIP-seq
MIRT1009840	hsa-miR-4254	CLIP-seq
MIRT1009841	hsa-miR-4271	CLIP-seq
MIRT1009842	hsa-miR-4274	CLIP-seq
MIRT1009843	hsa-miR-4282	CLIP-seq
MIRT1009844	hsa-miR-4289	CLIP-seq
MIRT1009845	hsa-miR-4291	CLIP-seq
MIRT1009846	hsa-miR-4292	CLIP-seq
MIRT1009847	hsa-miR-4308	CLIP-seq
MIRT1009848	hsa-miR-4311	CLIP-seq
MIRT1009849	hsa-miR-4420	CLIP-seq
MIRT1009850	hsa-miR-4427	CLIP-seq
MIRT1009851	hsa-miR-4459	CLIP-seq
MIRT1009852	hsa-miR-4460	CLIP-seq
MIRT1009853	hsa-miR-448	CLIP-seq
MIRT1009854	hsa-miR-4481	CLIP-seq
MIRT1009855	hsa-miR-4503	CLIP-seq
MIRT1009856	hsa-miR-4517	CLIP-seq
MIRT1009857	hsa-miR-4519	CLIP-seq
MIRT1009858	hsa-miR-4646-3p	CLIP-seq
MIRT1009859	hsa-miR-4667-5p	CLIP-seq
MIRT1009860	hsa-miR-4670-3p	CLIP-seq
MIRT1009861	hsa-miR-4677-3p	CLIP-seq
MIRT1009862	hsa-miR-4678	CLIP-seq
MIRT1009863	hsa-miR-4679	CLIP-seq
MIRT1009864	hsa-miR-4680-3p	CLIP-seq
MIRT1009865	hsa-miR-4698	CLIP-seq
MIRT1009866	hsa-miR-4699-3p	CLIP-seq
MIRT1009867	hsa-miR-4700-5p	CLIP-seq
MIRT1009868	hsa-miR-4712-3p	CLIP-seq
MIRT1009869	hsa-miR-4724-5p	CLIP-seq
MIRT1009870	hsa-miR-4725-3p	CLIP-seq
MIRT1009871	hsa-miR-4727-3p	CLIP-seq
MIRT1009872	hsa-miR-4745-5p	CLIP-seq
MIRT1009873	hsa-miR-4758-5p	CLIP-seq
MIRT1009874	hsa-miR-4788	CLIP-seq
MIRT1009875	hsa-miR-4802-3p	CLIP-seq
MIRT1009876	hsa-miR-488	CLIP-seq
MIRT1009877	hsa-miR-513a-3p	CLIP-seq
MIRT1009878	hsa-miR-539	CLIP-seq
MIRT1009879	hsa-miR-545	CLIP-seq
MIRT1009880	hsa-miR-548a-5p	CLIP-seq
MIRT1009881	hsa-miR-548ab	CLIP-seq
MIRT1009882	hsa-miR-548ac	CLIP-seq
MIRT1009883	hsa-miR-548ae	CLIP-seq
MIRT1009884	hsa-miR-548aj	CLIP-seq
MIRT1009885	hsa-miR-548ak	CLIP-seq
MIRT1009886	hsa-miR-548am	CLIP-seq
MIRT1009887	hsa-miR-548b-5p	CLIP-seq
MIRT1009888	hsa-miR-548c-3p	CLIP-seq
MIRT1009889	hsa-miR-548c-5p	CLIP-seq
MIRT1009890	hsa-miR-548d-3p	CLIP-seq
MIRT1009891	hsa-miR-548d-5p	CLIP-seq
MIRT1009892	hsa-miR-548h	CLIP-seq
MIRT1009893	hsa-miR-548i	CLIP-seq
MIRT1009894	hsa-miR-548j	CLIP-seq
MIRT1009895	hsa-miR-548n	CLIP-seq
MIRT1009896	hsa-miR-548o	CLIP-seq
MIRT1009897	hsa-miR-548p	CLIP-seq
MIRT1009898	hsa-miR-548s	CLIP-seq
MIRT1009899	hsa-miR-548w	CLIP-seq
MIRT1009900	hsa-miR-548x	CLIP-seq
MIRT1009901	hsa-miR-548y	CLIP-seq
MIRT1009902	hsa-miR-548z	CLIP-seq
MIRT1009903	hsa-miR-559	CLIP-seq
MIRT1009904	hsa-miR-561	CLIP-seq
MIRT1009905	hsa-miR-570	CLIP-seq
MIRT1009906	hsa-miR-573	CLIP-seq
MIRT1009907	hsa-miR-587	CLIP-seq
MIRT1009908	hsa-miR-643	CLIP-seq
MIRT1009909	hsa-miR-660	CLIP-seq
MIRT1009910	hsa-miR-661	CLIP-seq
MIRT1009911	hsa-miR-670	CLIP-seq
MIRT1009912	hsa-miR-760	CLIP-seq
MIRT1009913	hsa-miR-765	CLIP-seq
MIRT1009914	hsa-miR-936	CLIP-seq
MIRT1009915	hsa-miR-942	CLIP-seq
MIRT1009916	hsa-miR-3922-5p	CLIP-seq
MIRT1009917	hsa-miR-4753-5p	CLIP-seq
MIRT1999151	hsa-miR-1228	CLIP-seq
MIRT1999152	hsa-miR-1297	CLIP-seq
MIRT1999153	hsa-miR-1305	CLIP-seq
MIRT1999154	hsa-miR-26a	CLIP-seq
MIRT1999155	hsa-miR-26b	CLIP-seq
MIRT1999156	hsa-miR-3163	CLIP-seq
MIRT1009833	hsa-miR-3646	CLIP-seq
MIRT1999157	hsa-miR-3662	CLIP-seq
MIRT1999158	hsa-miR-3942-3p	CLIP-seq
MIRT1999159	hsa-miR-421	CLIP-seq
MIRT1009843	hsa-miR-4282	CLIP-seq
MIRT1999160	hsa-miR-4326	CLIP-seq
MIRT1999161	hsa-miR-4465	CLIP-seq
MIRT2232843	hsa-miR-3973	CLIP-seq
MIRT2232844	hsa-miR-1179	CLIP-seq
MIRT2232845	hsa-miR-1206	CLIP-seq
MIRT2232846	hsa-miR-181a	CLIP-seq
MIRT2232847	hsa-miR-181b	CLIP-seq
MIRT2232848	hsa-miR-181c	CLIP-seq
MIRT2232849	hsa-miR-181d	CLIP-seq
MIRT2232850	hsa-miR-4262	CLIP-seq
MIRT2232851	hsa-miR-4328	CLIP-seq
MIRT2232852	hsa-miR-4652-3p	CLIP-seq
MIRT1009808	hsa-miR-4778-5p	CLIP-seq
MIRT1009888	hsa-miR-548c-3p	CLIP-seq
MIRT2232853	hsa-miR-568	CLIP-seq
MIRT1009915	hsa-miR-942	CLIP-seq
MIRT2388330	hsa-miR-1256	CLIP-seq
MIRT2388331	hsa-miR-1271	CLIP-seq
MIRT2388332	hsa-miR-182	CLIP-seq
MIRT2388333	hsa-miR-4642	CLIP-seq
MIRT2388334	hsa-miR-507	CLIP-seq
MIRT2388335	hsa-miR-557	CLIP-seq
MIRT2388336	hsa-miR-889	CLIP-seq
MIRT2388337	hsa-miR-96	CLIP-seq
MIRT1009828	hsa-miR-3160-5p	CLIP-seq
MIRT1999156	hsa-miR-3163	CLIP-seq
MIRT2536447	hsa-miR-34c-3p	CLIP-seq
MIRT1009839	hsa-miR-409-3p	CLIP-seq
MIRT2536448	hsa-miR-4305	CLIP-seq
MIRT1009855	hsa-miR-4503	CLIP-seq
MIRT2536449	hsa-miR-4777-5p	CLIP-seq
MIRT2536450	hsa-miR-518d-5p	CLIP-seq
MIRT2536451	hsa-miR-519b-5p	CLIP-seq
MIRT2536452	hsa-miR-519c-5p	CLIP-seq
MIRT2536453	hsa-miR-520c-5p	CLIP-seq
MIRT2536454	hsa-miR-526a	CLIP-seq
MIRT2536455	hsa-miR-548ag	CLIP-seq
MIRT2536456	hsa-miR-548ai	CLIP-seq
MIRT1009888	hsa-miR-548c-3p	CLIP-seq
MIRT2536457	hsa-miR-548m	CLIP-seq
MIRT2536458	hsa-miR-569	CLIP-seq
MIRT2681319	hsa-let-7a	CLIP-seq
MIRT2681320	hsa-let-7b	CLIP-seq
MIRT2681321	hsa-let-7c	CLIP-seq
MIRT2681322	hsa-let-7d	CLIP-seq
MIRT2681323	hsa-let-7e	CLIP-seq
MIRT2681324	hsa-let-7f	CLIP-seq
MIRT2681325	hsa-let-7g	CLIP-seq
MIRT2681326	hsa-let-7i	CLIP-seq
MIRT2681327	hsa-miR-202	CLIP-seq
MIRT1009828	hsa-miR-3160-5p	CLIP-seq
MIRT1999156	hsa-miR-3163	CLIP-seq
MIRT2681328	hsa-miR-3200-5p	CLIP-seq
MIRT2536447	hsa-miR-34c-3p	CLIP-seq
MIRT1009839	hsa-miR-409-3p	CLIP-seq
MIRT2681329	hsa-miR-4458	CLIP-seq
MIRT2681330	hsa-miR-4500	CLIP-seq
MIRT2681331	hsa-miR-4502	CLIP-seq
MIRT1009855	hsa-miR-4503	CLIP-seq
MIRT2536458	hsa-miR-569	CLIP-seq
MIRT2681332	hsa-miR-607	CLIP-seq
MIRT2681333	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	IBA
GO:0004890	Function	GABA-A receptor activity	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005230	Function	Extracellular ligand-gated monoatomic ion channel activity	IEA
GO:0005254	Function	Chloride channel activity	IBA
GO:0005254	Function	Chloride channel activity	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8719416
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IBA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IDA	35355020
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	ISS
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	TAS	8719416
GO:0007417	Process	Central nervous system development	IEA
GO:0008503	Function	Benzodiazepine receptor activity	IBA
GO:0008503	Function	Benzodiazepine receptor activity	TAS	8719416
GO:0016020	Component	Membrane	IEA
GO:0022851	Function	GABA-gated chloride ion channel activity	IBA
GO:0032590	Component	Dendrite membrane	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	IBA
GO:0051932	Process	Synaptic transmission, GABAergic	NAS	35355020
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0098794	Component	Postsynapse	IBA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099634	Component	Postsynaptic specialization membrane	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902476	Process	Chloride transmembrane transport	IDA	35355020
GO:1902711	Component	GABA-A receptor complex	IBA
GO:1902711	Component	GABA-A receptor complex	IEA
GO:1902711	Component	GABA-A receptor complex	IPI	35355020
GO:1902711	Component	GABA-A receptor complex	ISS
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA
GO:1904862	Process	Inhibitory synapse assembly	IBA

Other IDs

• MIM: 137141
• HGNC: 4078
• e!Ensembl: ENSG00000109158

Protein

• UniProt ID: P48169
• Protein name: Gamma-aminobutyric acid receptor subunit alpha-4 (GABA(A) receptor subunit alpha-4) (GABAAR subunit alpha-4)
• Protein function: Alpha subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:35355020). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR),
• PDB: 7QN5, 7QN7, 7QN9, 7QNA, 7QNC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02931	Neur_chan_LBD	48 → 256	Neurotransmitter-gated ion-channel ligand binding domain	Family
  PF02932	Neur_chan_memb	263 → 538	Neurotransmitter-gated ion-channel transmembrane region	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the brain. {ECO:0000250|UniProtKB:Q9D6F4}.
• Sequence:

  MVSAKKVPAIALSAGVSFALLRFLCLAVCLNESPGQNQKEEKLCTENFTRILDSLLDGYD
  NRLRPGFGGPVTEVKTDIYVTSFGPVSDVEMEYTMDVFFRQTWIDKRLKYDGPIEILRLN
  NMMVTKVWTPDTFFRNGKKSVSHNMTAPNKLFRIMRNGTILYTMRLTISAECPMRLVDFP
  MDGHACPLKFGSYAYPKSEMIYTWTKGPEKSVEVPKESSSLVQYDLIGQTVSSETIKSIT
  GEYIVMTVYFHLRRKMGYFMIQTYIPCIMTVILSQVSFWINKESVPARTVFGITTVLTMT
  TLSISARHSLPKVSYATAMDWFIAVCFAFVFSALIEFAAVNYFTNIQMEKAKRKTSKPPQ
  EVPAAPVQREKHPEAPLQNTNANLNMRKRTNALVHSESDVGNRTEVGNHSSKSSTVVQES
  SKGTPRSYLASSPNPFSRANAAETISAARALPSASPTSIRTGYMPRKASVGSASTRHVFG
  SRLQRIKTTVNTIGATGKLSATPPPSAPPPSGSGTSKIDKYARILFPVTFGAFNMVYWVV
  YLSKDTMEKSESLM

• Sequence length: 554

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Retrograde endocannabinoid signaling
GABAergic synapse
Taste transduction
Morphine addiction
Nicotine addiction

Reactome:

GABA receptor activation

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GABRA4-associated disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GABRA4-related developmental and epileptic encephalopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GABRA4-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GABRA4-related Epileptic and Neurodevelopmental Disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOAFFECTIVE DISORDER, BIPOLAR TYPE	—	Disgenet	★★☆☆☆ 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
Autism Spectrum Disorder	Autism	Pubtator	29151244	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29151244		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	16080114, 16770606, 26239769		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	16080114, 16770606		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	16080114, 16770606, 20066485, 25124326	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	19078961	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32453965	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35152403	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	23937595		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	23937595		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	16091474		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	17124266, 35152403	Associate	★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	21422964		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	40233852	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	25124326	Associate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	29151244		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	29720720, 31063999		★☆☆☆☆ Found in Text Mining only
Schizoaffective disorder, bipolar type	Schizoaffective Disorder	PSYGENET_DG	20583128		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	20583128		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	35152403	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	16091474, 17079662		★☆☆☆☆ Found in Text Mining only
Tremor, Rubral	Rubral Tremor	CTD_human_DG	16091474		★☆☆☆☆ Found in Text Mining only