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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2562
Gene name	Gamma-aminobutyric acid type A receptor subunit beta3
Gene symbol	GABRB3
Synonyms (NCBI Gene)	DEE43ECA5EIEE43
Chromosome	15
Chromosome location	15q12
Summary	This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian

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SNP ID	Visualize variation	Clinical significance	Consequence
rs369631109	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs797045045	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs886037938	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886037939	T>A,C	Pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs886037940	G>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs886037941	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057518036	T>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057519201	T>C	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1057519549	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057519550	T>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1085308023	C>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1131691481	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1555368626	A>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1555368636	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1555401425	G>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1555401440	G>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1555401942	G>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1567106381	T>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1595440448	G>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1595440453	A>C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant

123

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miRTarBase ID	miRNA	Experiments	Reference
MIRT029728	hsa-miR-26b-5p	Microarray	19088304
MIRT045964	hsa-miR-125b-5p	CLASH	23622248
MIRT530347	hsa-miR-424-3p	PAR-CLIP	22012620
MIRT530346	hsa-miR-497-3p	PAR-CLIP	22012620
MIRT530345	hsa-miR-4691-3p	PAR-CLIP	22012620
MIRT530344	hsa-miR-6784-3p	PAR-CLIP	22012620
MIRT530343	hsa-miR-6862-3p	PAR-CLIP	22012620
MIRT530342	hsa-miR-298	PAR-CLIP	22012620
MIRT530341	hsa-miR-4284	PAR-CLIP	22012620
MIRT530340	hsa-miR-24-3p	PAR-CLIP	22012620
MIRT530339	hsa-miR-6802-3p	PAR-CLIP	22012620
MIRT530338	hsa-miR-1273h-3p	PAR-CLIP	22012620
MIRT530337	hsa-miR-3678-3p	PAR-CLIP	22012620
MIRT450155	hsa-miR-548ac	PAR-CLIP	22100165
MIRT450154	hsa-miR-548bb-3p	PAR-CLIP	22100165
MIRT450153	hsa-miR-548d-3p	PAR-CLIP	22100165
MIRT450152	hsa-miR-548h-3p	PAR-CLIP	22100165
MIRT450151	hsa-miR-548z	PAR-CLIP	22100165
MIRT450150	hsa-miR-548ae-3p	PAR-CLIP	22100165
MIRT450149	hsa-miR-548ah-3p	PAR-CLIP	22100165
MIRT450148	hsa-miR-548aj-3p	PAR-CLIP	22100165
MIRT450147	hsa-miR-548am-3p	PAR-CLIP	22100165
MIRT450146	hsa-miR-548aq-3p	PAR-CLIP	22100165
MIRT450145	hsa-miR-548j-3p	PAR-CLIP	22100165
MIRT450144	hsa-miR-548x-3p	PAR-CLIP	22100165
MIRT450142	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT450143	hsa-miR-552-3p	PAR-CLIP	22100165
MIRT450141	hsa-miR-3163	PAR-CLIP	22100165
MIRT450140	hsa-miR-3177-5p	PAR-CLIP	22100165
MIRT450139	hsa-let-7a-2-3p	PAR-CLIP	22100165
MIRT450138	hsa-let-7g-3p	PAR-CLIP	22100165
MIRT530347	hsa-miR-424-3p	PAR-CLIP	22012620
MIRT530346	hsa-miR-497-3p	PAR-CLIP	22012620
MIRT530345	hsa-miR-4691-3p	PAR-CLIP	22012620
MIRT530344	hsa-miR-6784-3p	PAR-CLIP	22012620
MIRT530343	hsa-miR-6862-3p	PAR-CLIP	22012620
MIRT530342	hsa-miR-298	PAR-CLIP	22012620
MIRT530341	hsa-miR-4284	PAR-CLIP	22012620
MIRT530340	hsa-miR-24-3p	PAR-CLIP	22012620
MIRT530339	hsa-miR-6802-3p	PAR-CLIP	22012620
MIRT530338	hsa-miR-1273h-3p	PAR-CLIP	22012620
MIRT530337	hsa-miR-3678-3p	PAR-CLIP	22012620
MIRT450155	hsa-miR-548ac	PAR-CLIP	22100165
MIRT450154	hsa-miR-548bb-3p	PAR-CLIP	22100165
MIRT450153	hsa-miR-548d-3p	PAR-CLIP	22100165
MIRT450152	hsa-miR-548h-3p	PAR-CLIP	22100165
MIRT450151	hsa-miR-548z	PAR-CLIP	22100165
MIRT450150	hsa-miR-548ae-3p	PAR-CLIP	22100165
MIRT450149	hsa-miR-548ah-3p	PAR-CLIP	22100165
MIRT450148	hsa-miR-548aj-3p	PAR-CLIP	22100165
MIRT450147	hsa-miR-548am-3p	PAR-CLIP	22100165
MIRT450146	hsa-miR-548aq-3p	PAR-CLIP	22100165
MIRT450145	hsa-miR-548j-3p	PAR-CLIP	22100165
MIRT450144	hsa-miR-548x-3p	PAR-CLIP	22100165
MIRT450142	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT450143	hsa-miR-552-3p	PAR-CLIP	22100165
MIRT450141	hsa-miR-3163	PAR-CLIP	22100165
MIRT450140	hsa-miR-3177-5p	PAR-CLIP	22100165
MIRT450139	hsa-let-7a-2-3p	PAR-CLIP	22100165
MIRT450138	hsa-let-7g-3p	PAR-CLIP	22100165
MIRT1009970	hsa-miR-149	CLIP-seq
MIRT1009971	hsa-miR-24	CLIP-seq
MIRT1009972	hsa-miR-3671	CLIP-seq
MIRT1009973	hsa-miR-4318	CLIP-seq
MIRT1009974	hsa-miR-4693-5p	CLIP-seq
MIRT1009975	hsa-miR-606	CLIP-seq
MIRT1009976	hsa-miR-892a	CLIP-seq
MIRT1009977	hsa-miR-892b	CLIP-seq
MIRT1009978	hsa-miR-134	CLIP-seq
MIRT1009979	hsa-miR-3118	CLIP-seq
MIRT1009980	hsa-miR-3127-5p	CLIP-seq
MIRT1009981	hsa-miR-3136-5p	CLIP-seq
MIRT1009982	hsa-miR-3143	CLIP-seq
MIRT1009983	hsa-miR-335	CLIP-seq
MIRT1009984	hsa-miR-3662	CLIP-seq
MIRT1009985	hsa-miR-4270	CLIP-seq
MIRT1009986	hsa-miR-4328	CLIP-seq
MIRT1009987	hsa-miR-4439	CLIP-seq
MIRT1009988	hsa-miR-4441	CLIP-seq
MIRT1009989	hsa-miR-4513	CLIP-seq
MIRT1009990	hsa-miR-4652-3p	CLIP-seq
MIRT1009991	hsa-miR-4666-3p	CLIP-seq
MIRT1009992	hsa-miR-4724-5p	CLIP-seq
MIRT1009993	hsa-miR-4803	CLIP-seq
MIRT1009994	hsa-miR-513c	CLIP-seq
MIRT1009995	hsa-miR-514b-5p	CLIP-seq
MIRT1009996	hsa-miR-550b	CLIP-seq
MIRT1009997	hsa-miR-888	CLIP-seq
MIRT1009978	hsa-miR-134	CLIP-seq
MIRT1009971	hsa-miR-24	CLIP-seq
MIRT1009979	hsa-miR-3118	CLIP-seq
MIRT1009980	hsa-miR-3127-5p	CLIP-seq
MIRT1009981	hsa-miR-3136-5p	CLIP-seq
MIRT1009998	hsa-miR-342-3p	CLIP-seq
MIRT1009999	hsa-miR-3660	CLIP-seq
MIRT1009985	hsa-miR-4270	CLIP-seq
MIRT1009987	hsa-miR-4439	CLIP-seq
MIRT1009988	hsa-miR-4441	CLIP-seq
MIRT1009989	hsa-miR-4513	CLIP-seq
MIRT1010000	hsa-miR-4526	CLIP-seq
MIRT1009992	hsa-miR-4724-5p	CLIP-seq
MIRT1010001	hsa-miR-4797-3p	CLIP-seq
MIRT1010002	hsa-miR-494	CLIP-seq
MIRT1010003	hsa-miR-505	CLIP-seq
MIRT1010004	hsa-miR-548c-3p	CLIP-seq
MIRT1009978	hsa-miR-134	CLIP-seq
MIRT1009979	hsa-miR-3118	CLIP-seq
MIRT1009980	hsa-miR-3127-5p	CLIP-seq
MIRT1009981	hsa-miR-3136-5p	CLIP-seq
MIRT1009982	hsa-miR-3143	CLIP-seq
MIRT1009985	hsa-miR-4270	CLIP-seq
MIRT1009987	hsa-miR-4439	CLIP-seq
MIRT1009988	hsa-miR-4441	CLIP-seq
MIRT1009989	hsa-miR-4513	CLIP-seq
MIRT1009991	hsa-miR-4666-3p	CLIP-seq
MIRT1009992	hsa-miR-4724-5p	CLIP-seq
MIRT1009993	hsa-miR-4803	CLIP-seq
MIRT1999173	hsa-miR-4760-3p	CLIP-seq
MIRT2232863	hsa-miR-2278	CLIP-seq
MIRT2232864	hsa-miR-4752	CLIP-seq
MIRT2232865	hsa-miR-4753-3p	CLIP-seq
MIRT1009972	hsa-miR-3671	CLIP-seq
MIRT1009971	hsa-miR-24	CLIP-seq

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Transcription factor	Regulation	Reference
REST	Unknown	22765836

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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	IDA	14993607, 30602789
GO:0004890	Function	GABA-A receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	IMP	22303015
GO:0004890	Function	GABA-A receptor activity	ISS
GO:0004890	Function	GABA-A receptor activity	TAS	1664410
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	IDA	26950270
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	22303015
GO:0005886	Component	Plasma membrane	TAS	1664410
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0007165	Process	Signal transduction	TAS	1664410
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IDA	30602789, 35355020
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IMP	26950270
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	ISS
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	NAS	28528665, 34417930
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007420	Process	Brain development	IEA
GO:0007612	Process	Learning	IEA
GO:0007613	Process	Memory	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IEA
GO:0019098	Process	Reproductive behavior	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0022851	Function	GABA-gated chloride ion channel activity	IDA	9039914, 30602789
GO:0022851	Function	GABA-gated chloride ion channel activity	IEA
GO:0022851	Function	GABA-gated chloride ion channel activity	IMP	22303015, 26950270
GO:0022851	Function	GABA-gated chloride ion channel activity	ISS
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0035176	Process	Social behavior	IEA
GO:0035640	Process	Exploration behavior	IEA
GO:0042747	Process	Circadian sleep/wake cycle, REM sleep	IEA
GO:0042802	Function	Identical protein binding	IPI	16537435, 24909990
GO:0043197	Component	Dendritic spine	IDA	25025157
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IDA	35355020
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048666	Process	Neuron development	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	IBA
GO:0051932	Process	Synaptic transmission, GABAergic	IDA	14993607
GO:0051932	Process	Synaptic transmission, GABAergic	NAS	28528665, 30602789, 35355020
GO:0060021	Process	Roof of mouth development	IEA
GO:0060021	Process	Roof of mouth development	ISS
GO:0060022	Process	Hard palate development	IEA
GO:0060080	Process	Inhibitory postsynaptic potential	IEA
GO:0060119	Process	Inner ear receptor cell development	IEA
GO:0060384	Process	Innervation	IEA
GO:0061744	Process	Motor behavior	IEA
GO:0071294	Process	Cellular response to zinc ion	IEA
GO:0071420	Process	Cellular response to histamine	IDA	18281286
GO:0072347	Process	Response to anesthetic	IEA
GO:0090102	Process	Cochlea development	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099634	Component	Postsynaptic specialization membrane	ISS
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902476	Process	Chloride transmembrane transport	IDA	9039914, 30602789, 35355020
GO:1902476	Process	Chloride transmembrane transport	IEA
GO:1902476	Process	Chloride transmembrane transport	IMP	22303015
GO:1902476	Process	Chloride transmembrane transport	ISS
GO:1902476	Process	Chloride transmembrane transport	NAS	28528665
GO:1902711	Component	GABA-A receptor complex	IBA
GO:1902711	Component	GABA-A receptor complex	IDA	9039914, 26950270
GO:1902711	Component	GABA-A receptor complex	IEA
GO:1902711	Component	GABA-A receptor complex	IMP	22303015
GO:1902711	Component	GABA-A receptor complex	IPI	30602789, 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	IDA	25489750
GO:1904862	Process	Inhibitory synapse assembly	IEA

MIM	HGNC	e!Ensembl
137192	4083	ENSG00000166206

P28472

Protein name

Gamma-aminobutyric acid receptor subunit beta-3 (GABA(A) receptor subunit beta-3) (GABAAR subunit beta-3)

Protein function

Beta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:14993607, PubMed:18514161, PubMed:22243422, PubMed:22303015, PubMed:24909990, Pu

PDB

4COF , 5O8F , 5OJM , 6A96 , 6HUG , 6HUJ , 6HUK , 6HUO , 6HUP , 6I53 , 6QFA , 7PBD , 7PBZ , 7PC0 , 7QN5 , 7QN6 , 7QN7 , 7QN8 , 7QN9 , 7QNA , 7QNB , 7QNC , 7QND , 7QNE , 8PVB , 9CSB , 9CTJ , 9CX7 , 9CXA , 9CXC , 9EQG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	37 → 243	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	250 → 468	Neurotransmitter-gated ion-channel transmembrane region	Family

Sequence

MWGLAGGRLFGIFSAPVLVAVVCCAQSVNDPGNMSFVKETVDKLLKGYDIRLRPDFGGPP
VCVGMNIDIASIDMVSEVNMDYTLTMYFQQYWRDKRLAYSGIPLNLTLDNRVADQLWVPD
TYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIE
SYGYTTDDIEFYWRGGDKAVTGVERIELPQFSIVEHRLVSRNVVFATGAYPRLSLSFRLK
RNIGYFILQTYMPSILITILSWVSFWINYDASAARVALGITTVLTMTTINTHLRETLPKI
PYVKAIDMYLMGCFVFVFLALLEYAFVNYIFFGRGPQRQKKLAEKTAKAKNDRSKSESNR
VDAHGNILLTSLEVHNEMNEVSGGIGDTRNSAISFDNSGIQYRKQSMPREGHGRFLGDRS
LPHKKTHLRRRSSQLKIKIPDLTDVNAIDRWSRIVFPFTFSLFNLVYWLYYVN

Sequence length

473

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse GABAergic synapse Morphine addiction Nicotine addiction		GABA receptor activation

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 (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy, 43	Likely pathogenic; Pathogenic	rs1890857965, rs201004195, rs2140696722, rs1555401425, rs1595440448, rs1555368345, rs1057524415, rs2504213487, rs886037938, rs886037939, rs886037940, rs886037941, rs2504153506, rs867679278, rs1064796514 View all (7 more)	RCV001329411 RCV001788527 RCV001775334 RCV001781148 RCV002307810 View all (17 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epilepsy	Likely pathogenic; Pathogenic	rs886037938	RCV004798820	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy, childhood absence, susceptibility to, 1	Likely pathogenic; Pathogenic	rs1057519549, rs2140536974, rs2140537271, rs746425161, rs2140536988, rs1595440448, rs2140679963, rs2140536878, rs2140737885, rs1555368345, rs2504330272, rs1891196840, rs1057524415, rs2504213556, rs2504329220 View all (26 more)	RCV001379623 RCV001378721 RCV001381109 RCV001907646 RCV001999950 View all (38 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epilepsy, childhood absence, susceptibility to, 5	Likely pathogenic; Pathogenic	rs1057519549, rs2140536974, rs2140537271, rs746425161, rs2140536988, rs1595440448, rs2140679963, rs2140536878, rs2140737885, rs2140199587, rs1555368345, rs2504330272, rs797045045, rs1891196840, rs1057524415 View all (29 more)	RCV001379623 RCV001378721 RCV001381109 RCV001907646 RCV001999950 View all (42 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy	Likely pathogenic; Pathogenic	rs1057519549, rs1057519550, rs1595440453	RCV000416942 RCV000416972 RCV001003982	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs797045045, rs1890742227	RCV001260891 RCV001260773	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs886037938, rs1889966666	RCV002274001 RCV002274159	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs2504205415	RCV004527468	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (31)

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.
ANGELMAN SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
BRAIN INJURIES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ABSENCE EPILEPSY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, ABSENCE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GABRB3-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Insomnia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LENNOX-GASTAUT SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUDDEN INFANT DEATH SYNDROME	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNOVIUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (138)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Absence Seizure Disorder	Absence Seizure	CTD_human_DG	18514161		★★★★★ ★☆☆☆☆ Found in Text Mining only
Akinetic Petit Mal	Akinetic Petit Mal	CTD_human_DG	18514161		★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	23124039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	39596356, 40430038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	10515160, 11543639, 1363801, 1714232, 17339270, 28009282, 30826071, 7747771, 7802001, 7810569, 7987324, 8094063, 8188218, 8188222, 8317476 View all (7 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angelman Syndrome	Angelman Syndrome	CTD_human_DG	15878204		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angelman Syndrome	Angelman syndrome	Pubtator	30826071, 7618904, 8389098	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asperger Syndrome	Asperger Syndrome	BEFREE	22037176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	28607477	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	29042897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical absence seizure	Absence Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	19430570, 21786105, 28607477	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	15952184, 17230033, 19430570, 30074174		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	22037176		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	BEFREE	11785506		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	10374739, 10490705, 10644429, 10686550, 11543639, 11920158, 12092907, 15615769, 15952184, 19935738, 24249596, 28009282, 29725984, 9545402		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	11920158, 9545402		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	12068363, 12567325, 18821008, 19935738, 21786105, 24204716, 25124326, 30108208, 9545402	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	LHGDN	17230033		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	21901840	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Awakening Epilepsy	Epilepsy	CTD_human_DG	15878204, 29942082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	11378843		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	11378843, 20583128		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	19078961	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar I disorder	Bipolar Disorder	BEFREE	29135068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	23934111, 26645412, 29162865, 29390378, 34906499	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	28487959	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Insomnia	Insomnia	CTD_human_DG	12189488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	11810291, 18452349, 23438326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	10644429		★★★★★ ★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	BEFREE	19268543, 22414661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	11711165, 15296817, 22082659		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	11711165, 15296817, 19268543, 22082659, 22414661		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	26993267, 29162865, 29961870, 34906499	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	18514161, 23934111, 24999380, 26645412, 26950270, 26993267, 27476654, 27622563, 28053010, 28544625, 28607477		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	LHGDN	17880575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	27476654, 28053010		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	10515160, 19935738, 26645412, 28009282, 28053010, 29961870, 31435640, 31755996, 9546330		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	CTD_human_DG	15878204, 29942082		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	Pubtator	19935738, 20550555, 22765836, 26645412, 27622563, 29961870, 30185235, 31755996, 34906499, 40542409	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy Absence	Absence epilepsy	Pubtator	18514161, 19935738, 20550555, 22303015, 22765836, 25025424, 40542409	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Generalized	Generalized epilepsy	Pubtator	34906499	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	20550555	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Absence, Atypical	Epilepsy	CTD_human_DG	18514161		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPSY, CHILDHOOD ABSENCE, 1	Epilepsy	ORPHANET_DG	18514161		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPSY, CHILDHOOD ABSENCE, 1	Epilepsy	CLINVAR_DG	28053010, 28544625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	15878204, 29942082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	22082659		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Minor	Epilepsy	CTD_human_DG	18514161		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	LHGDN	14503638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	22082659		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	23934111, 26645412, 29162865, 29390378, 31319422		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	29162865, 29390378, 34717289, 35383156, 40542409	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	20308251, 28544625		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43	Epileptic encephalopathy	UNIPROT_DG	23934111, 25356899, 26950270, 26993267, 27476654, 27864847		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43	Epileptic encephalopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	20308251, 28053010		★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	BEFREE	9637609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29162865, 29961870, 9504785		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Growth Disorders	Growth disorder	Pubtator	28607477	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	BEFREE	22414661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	24786473	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	28009282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	17215107, 20550555		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	20308251, 28544625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	25194483, 26645412, 31435640		★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	10729112	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31435640		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	34906499, 35383156, 40542409	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isodicentric Chromosome 15 Syndrome	Isodicentric Chromosome 15 Syndrome	BEFREE	23663378		★★★★★ ★☆☆☆☆ Found in Text Mining only
Isodicentric Chromosome 15 Syndrome	Isodicentric Chromosome 15 Syndrome	CTD_human_DG	23663378		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	16302874, 9129713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lennox-Gastaut syndrome	Lennox-Gastaut Syndrome	ORPHANET_DG	23934111, 27476654		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lennox-Gastaut syndrome	Lennox-Gastaut Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lennox-Gastaut syndrome	Lennox-Gastaut Syndrome	BEFREE	25194483, 26645412, 31435640, 31755996		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	LHGDN	17326191		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	11378843		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	11378843		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	11378843		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	11378843		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	11378843		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	11378843		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	11378843		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	11711165, 15296817, 22082659		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	11711165, 15296817, 19268543, 22082659, 22414661		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine with Aura	Migraine	Pubtator	15586324	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	18514161, 23934111, 24999380, 26645412, 26950270, 26993267, 27476654, 27622563, 28053010, 28544625, 28607477		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	25124326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	18980998	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23417100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	10515160, 15615769		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	29942082		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON RARE IN EUROPE: Autism	Autism	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonorganic Insomnia	Nonorganic Insomnia	CTD_human_DG	12189488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	BEFREE	23124039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	BEFREE	23438326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	15767729		★★★★★ ★☆☆☆☆ 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
Personality Disorders	Personality Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	11785506, 30074174		★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	11711165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	11164193, 1363801, 16819717, 1714232, 17339270, 28009282, 8188218, 8188222, 8882776, 9044396, 9128934, 9674903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Insomnia	Insomnia	CTD_human_DG	12189488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36749655	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	38287309	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychophysiological Insomnia	Psychophysiological Insomnia	CTD_human_DG	12189488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	19268543	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Punding	Punding	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	17339270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	16023997, 17471287		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	BEFREE	19268543, 22414661, 24865167, 29196882, 30908890		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	PSYGENET_DG	22414661, 24865167		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Seizures	Seizures	Pubtator	29390378, 31618474, 35383156, 9637609	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Initiation and Maintenance Disorders	Sleep Disorders	CTD_human_DG	12189488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Initiation Dysfunction	Sleep Disorders	CTD_human_DG	12189488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	26645412	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Symptomatic Generalized Epilepsy	Epilepsy	BEFREE	1464267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	19268543	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	31319422, 8389469		★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	25194483, 26645412, 31435640		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	BEFREE	26645412		★★★★★ ★☆☆☆☆ Found in Text Mining only

GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3)