GABRA5 (gamma-aminobutyric acid type A receptor subunit alpha5)

Gene

• Entrez ID: 2558
• Gene name: Gamma-aminobutyric acid type A receptor subunit alpha5
• Gene symbol: GABRA5
• Synonyms (NCBI Gene): DEE79, EIEE79
• Chromosome: 15
• Chromosome location: 15q12
• Summary: 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 benzodiazepines that bind to the GA

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1595438243	G>C,T	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1595438268	C>G	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs1595441329	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT537284	hsa-miR-5584-5p	PAR-CLIP	22012620
MIRT537282	hsa-miR-211-3p	PAR-CLIP	22012620
MIRT537280	hsa-miR-4270	PAR-CLIP	22012620
MIRT537281	hsa-miR-4441	PAR-CLIP	22012620
MIRT537279	hsa-miR-6754-5p	PAR-CLIP	22012620
MIRT537278	hsa-miR-1266-5p	PAR-CLIP	22012620
MIRT537277	hsa-miR-4518	PAR-CLIP	22012620
MIRT537276	hsa-miR-6792-5p	PAR-CLIP	22012620
MIRT537275	hsa-miR-4503	PAR-CLIP	22012620
MIRT537274	hsa-miR-670-3p	PAR-CLIP	22012620
MIRT537273	hsa-miR-1238-3p	PAR-CLIP	22012620
MIRT537273	hsa-miR-1238-3p	PAR-CLIP	26701625
MIRT537278	hsa-miR-1266-5p	PAR-CLIP	26701625
MIRT537282	hsa-miR-211-3p	PAR-CLIP	26701625
MIRT537280	hsa-miR-4270	PAR-CLIP	26701625
MIRT537281	hsa-miR-4441	PAR-CLIP	26701625
MIRT537275	hsa-miR-4503	PAR-CLIP	26701625
MIRT537277	hsa-miR-4518	PAR-CLIP	26701625
MIRT537284	hsa-miR-5584-5p	PAR-CLIP	26701625
MIRT537274	hsa-miR-670-3p	PAR-CLIP	26701625
MIRT537279	hsa-miR-6754-5p	PAR-CLIP	26701625
MIRT537276	hsa-miR-6792-5p	PAR-CLIP	26701625
MIRT537273	hsa-miR-1238-3p	PAR-CLIP	27292025
MIRT537273	hsa-miR-1238-3p	PAR-CLIP	27292025
MIRT537278	hsa-miR-1266-5p	PAR-CLIP	27292025
MIRT537278	hsa-miR-1266-5p	PAR-CLIP	27292025
MIRT537282	hsa-miR-211-3p	PAR-CLIP	27292025
MIRT537282	hsa-miR-211-3p	PAR-CLIP	27292025
MIRT537280	hsa-miR-4270	PAR-CLIP	27292025
MIRT537280	hsa-miR-4270	PAR-CLIP	27292025
MIRT537281	hsa-miR-4441	PAR-CLIP	27292025
MIRT537281	hsa-miR-4441	PAR-CLIP	27292025
MIRT537275	hsa-miR-4503	PAR-CLIP	27292025
MIRT537275	hsa-miR-4503	PAR-CLIP	27292025
MIRT537277	hsa-miR-4518	PAR-CLIP	27292025
MIRT537277	hsa-miR-4518	PAR-CLIP	27292025
MIRT537284	hsa-miR-5584-5p	PAR-CLIP	27292025
MIRT537284	hsa-miR-5584-5p	PAR-CLIP	27292025
MIRT537274	hsa-miR-670-3p	PAR-CLIP	27292025
MIRT537274	hsa-miR-670-3p	PAR-CLIP	27292025
MIRT537279	hsa-miR-6754-5p	PAR-CLIP	27292025
MIRT537279	hsa-miR-6754-5p	PAR-CLIP	27292025
MIRT537276	hsa-miR-6792-5p	PAR-CLIP	27292025
MIRT537276	hsa-miR-6792-5p	PAR-CLIP	27292025
MIRT537284	hsa-miR-5584-5p	PAR-CLIP	22012620
MIRT537282	hsa-miR-211-3p	PAR-CLIP	22012620
MIRT537280	hsa-miR-4270	PAR-CLIP	22012620
MIRT537281	hsa-miR-4441	PAR-CLIP	22012620
MIRT537279	hsa-miR-6754-5p	PAR-CLIP	22012620
MIRT537278	hsa-miR-1266-5p	PAR-CLIP	22012620
MIRT537277	hsa-miR-4518	PAR-CLIP	22012620
MIRT537276	hsa-miR-6792-5p	PAR-CLIP	22012620
MIRT537275	hsa-miR-4503	PAR-CLIP	22012620
MIRT537274	hsa-miR-670-3p	PAR-CLIP	22012620
MIRT537273	hsa-miR-1238-3p	PAR-CLIP	22012620
MIRT1999162	hsa-miR-1272	CLIP-seq
MIRT1999163	hsa-miR-1322	CLIP-seq
MIRT1999164	hsa-miR-3171	CLIP-seq
MIRT1999165	hsa-miR-4652-3p	CLIP-seq
MIRT2388338	hsa-miR-1293	CLIP-seq
MIRT2388339	hsa-miR-196a	CLIP-seq
MIRT2388340	hsa-miR-196b	CLIP-seq
MIRT2388341	hsa-miR-3151	CLIP-seq
MIRT2388342	hsa-miR-3650	CLIP-seq
MIRT2388343	hsa-miR-4447	CLIP-seq
MIRT2388344	hsa-miR-4472	CLIP-seq
MIRT2388345	hsa-miR-4483	CLIP-seq
MIRT2388346	hsa-miR-4727-3p	CLIP-seq
MIRT2388347	hsa-miR-491-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001662	Process	Behavioral fear response	IEA
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:0004890	Function	GABA-A receptor activity	ISS
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:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	1321750
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0007165	Process	Signal transduction	TAS	1321750
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IBA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	ISS
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0008306	Process	Associative learning	IEA
GO:0008503	Function	Benzodiazepine receptor activity	IBA
GO:0016020	Component	Membrane	IEA
GO:0022851	Function	GABA-gated chloride ion channel activity	IBA
GO:0022851	Function	GABA-gated chloride ion channel activity	IEA
GO:0022851	Function	GABA-gated chloride ion channel activity	ISS
GO:0030425	Component	Dendrite	IEA
GO:0032590	Component	Dendrite membrane	IBA
GO:0032809	Component	Neuronal cell body membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0038023	Function	Signaling receptor activity	TAS	1321750
GO:0042734	Component	Presynaptic membrane	IEA
GO:0043235	Component	Receptor complex	IEA
GO:0044297	Component	Cell body	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048666	Process	Neuron development	IEA
GO:0050811	Function	GABA receptor binding	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	IBA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060119	Process	Inner ear receptor cell development	IEA
GO:0060384	Process	Innervation	IEA
GO:0090102	Process	Cochlea development	IEA
GO:0098794	Component	Postsynapse	IBA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099505	Process	Regulation of presynaptic membrane potential	IEA
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IDA	17681556
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP	17681556
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	NAS	17681556
GO:0099634	Component	Postsynaptic specialization membrane	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902711	Component	GABA-A receptor complex	IBA
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: 137142
• HGNC: 4079
• e!Ensembl: ENSG00000186297

Protein

• UniProt ID: P31644
• Protein name: Gamma-aminobutyric acid receptor subunit alpha-5 (GABA(A) receptor subunit alpha-5) (GABAAR subunit alpha-5)
• 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:14993607, PubMed:29961870, PubMed:30140029, PubMed:31056671). GABA-gated chlori
• PDB: 5O8F, 5OJM, 6A96, 8BEJ, 8BGI, 8BHA, 8BHB, 8BHG, 8BHI, 8BHK, 8BHM, 8BHO, 8BHQ, 8BHR, 8BHS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02931	Neur_chan_LBD	49 → 257	Neurotransmitter-gated ion-channel ligand binding domain	Family
  PF02932	Neur_chan_memb	264 → 374	Neurotransmitter-gated ion-channel transmembrane region	Family

• Sequence:

  MDNGMFSGFIMIKNLLLFCISMNLSSHFGFSQMPTSSVKDETNDNITIFTRILDGLLDGY
  DNRLRPGLGERITQVRTDIYVTSFGPVSDTEMEYTIDVFFRQSWKDERLRFKGPMQRLPL
  NNLLASKIWTPDTFFHNGKKSIAHNMTTPNKLLRLEDDGTLLYTMRLTISAECPMQLEDF
  PMDAHACPLKFGSYAYPNSEVVYVWTNGSTKSVVVAEDGSRLNQYHLMGQTVGTENISTS
  TGEYTIMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTM
  TTLSISARNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRGWAWDGKKALEAA
  KIKKKREVILNKSTNAFTTGKMSHPPNIPKEQTPAGTSNTTSVSVKPSEEKTSESKKTYN
  SISKIDKMSRIVFPVLFGTFNLVYWATYLNREPVIKGAASPK

• Sequence length: 462

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Developmental and epileptic encephalopathy, 79	Pathogenic; Likely pathogenic	rs1595438268, rs1595438243, rs1595441329	RCV002272577 RCV000850105 RCV000850106 RCV000850107 RCV000986170	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Autism spectrum disorder	Likely benign	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal epilepsy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GABRA5-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMORY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Seizure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNOVIUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Medulloblastoma	Medulloblastoma	BEFREE	24196163		★☆☆☆☆ Found in Text Mining only
Age-Related Memory Disorders	Age-Related Memory Disorders	CTD_human_DG	20180861		★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	23124039		★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	28964773		★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	11543639, 8188218		★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman syndrome	Pubtator	15607424, 30826071	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28717969		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28717969		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	28607477	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	28607477	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	27231709		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	11543639, 12092907		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	16080114, 20066485, 25124326	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	LHGDN	17353214		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	17353214		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	11378843, 9514592		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	11378843, 15882799, 17239033, 20583128, 9514592		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	LHGDN	17353214		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	19078961, 38482990	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar I disorder	Bipolar Disorder	BEFREE	15882799		★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring syndrome	Pubtator	32938993	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	31056671	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	24196163		★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	8985701		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	38482990	Associate	★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	8985701		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29961870	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	31056671		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29961870		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	29961870	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	21081112		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	8985701		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	16256272		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	8985701		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29961870		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	31056671		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28717969		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31056671		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	38482990	Associate	★☆☆☆☆ Found in Text Mining only
Isodicentric Chromosome 15 Syndrome	Isodicentric Chromosome 15 Syndrome	CTD_human_DG	23663378		★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	8985701		★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	9129713		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	11378843, 9514592		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	11378843, 9514592		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	11378843, 9514592		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	11378843, 9514592		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	11378843, 9514592		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	11378843, 9514592		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	11378843, 9514592		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	24196163		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	30725256, 37083768	Associate	★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory Disorders	CTD_human_DG	20180861		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	BEFREE	9514592		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	9514592		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	29787571, 30725256		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	25124326	Associate	★☆☆☆☆ Found in Text Mining only
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous albinism type 2	Oculocutaneous albinism	BEFREE	23124039		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	24755890		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic disorder	Pubtator	24755890	Associate	★☆☆☆☆ Found in Text Mining only
Paragangliomas 3	Paraganglioma	Pubtator	30725256	Associate	★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	7977468, 8188218		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	38482990	Associate	★☆☆☆☆ Found in Text Mining only
Recurrent major depressive episodes	Mental Depression	BEFREE	9267853		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11287792		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	PSYGENET_DG	11287792		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Single Seizure	Seizure	CTD_human_DG	8985701		★☆☆☆☆ Found in Text Mining only
Social Communication Disorder	Social Communication Disorder	CTD_human_DG	27231709		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	8985701		★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	8985701		★☆☆☆☆ Found in Text Mining only