GABRB1 (gamma-aminobutyric acid type A receptor subunit beta1)

Gene

• Entrez ID: 2560
• Gene name: Gamma-aminobutyric acid type A receptor subunit beta1
• Gene symbol: GABRB1
• Synonyms (NCBI Gene): DEE45, EIEE45
• Chromosome: 4
• Chromosome location: 4p12
• Summary: The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 i

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs886039817	T>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs886039818	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1135401786	C>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT711254	hsa-miR-3646	HITS-CLIP	19536157
MIRT724049	hsa-miR-3140-5p	HITS-CLIP	19536157
MIRT448805	hsa-miR-203a-3p	HITS-CLIP	19536157
MIRT711253	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT711252	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT711251	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT711254	hsa-miR-3646	HITS-CLIP	19536157
MIRT448805	hsa-miR-203a-3p	HITS-CLIP	19536157
MIRT711253	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT711252	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT711251	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT711254	hsa-miR-3646	HITS-CLIP	19536157
MIRT448805	hsa-miR-203a-3p	HITS-CLIP	19536157
MIRT711253	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT711252	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT711251	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT658012	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT658011	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT658010	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT638698	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT638697	hsa-miR-1208	HITS-CLIP	23824327
MIRT638696	hsa-miR-6731-3p	HITS-CLIP	23824327
MIRT638695	hsa-miR-26a-1-3p	HITS-CLIP	23824327
MIRT638694	hsa-miR-26a-2-3p	HITS-CLIP	23824327
MIRT638693	hsa-miR-181b-2-3p	HITS-CLIP	23824327
MIRT638692	hsa-miR-181b-3p	HITS-CLIP	23824327
MIRT638690	hsa-miR-4420	HITS-CLIP	23824327
MIRT638691	hsa-miR-653-3p	HITS-CLIP	23824327
MIRT638689	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT638688	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT615000	hsa-miR-107	HITS-CLIP	23824327
MIRT614999	hsa-miR-103a-3p	HITS-CLIP	23824327
MIRT614998	hsa-miR-96-5p	HITS-CLIP	23824327
MIRT614997	hsa-miR-182-5p	HITS-CLIP	23824327
MIRT614996	hsa-miR-1271-5p	HITS-CLIP	23824327
MIRT614995	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT614994	hsa-miR-4307	HITS-CLIP	23824327
MIRT614993	hsa-miR-885-3p	HITS-CLIP	23824327
MIRT614992	hsa-miR-7150	HITS-CLIP	23824327
MIRT476522	hsa-miR-4438	HITS-CLIP	23824327
MIRT613011	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT613010	hsa-miR-31-3p	HITS-CLIP	23824327
MIRT613009	hsa-miR-1251-3p	HITS-CLIP	23824327
MIRT613008	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT613007	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT497806	hsa-miR-5003-3p	PAR-CLIP	22291592
MIRT497805	hsa-miR-1224-3p	PAR-CLIP	22291592
MIRT497804	hsa-miR-188-3p	PAR-CLIP	22291592
MIRT497803	hsa-miR-1260a	PAR-CLIP	22291592
MIRT497802	hsa-miR-1260b	PAR-CLIP	22291592
MIRT497801	hsa-miR-3156-3p	PAR-CLIP	22291592
MIRT497800	hsa-miR-183-3p	PAR-CLIP	22291592
MIRT497799	hsa-miR-4452	PAR-CLIP	22291592
MIRT497798	hsa-miR-4446-5p	PAR-CLIP	22291592
MIRT476522	hsa-miR-4438	PAR-CLIP	23592263
MIRT476521	hsa-miR-3622a-5p	PAR-CLIP	23592263
MIRT476520	hsa-miR-4269	PAR-CLIP	23592263
MIRT476519	hsa-miR-6715b-5p	PAR-CLIP	23592263
MIRT476518	hsa-miR-4329	PAR-CLIP	23592263
MIRT476517	hsa-miR-873-3p	PAR-CLIP	23592263
MIRT476515	hsa-miR-5095	PAR-CLIP	23592263
MIRT476516	hsa-miR-7151-3p	PAR-CLIP	23592263
MIRT476514	hsa-miR-3672	PAR-CLIP	23592263
MIRT476513	hsa-miR-6864-3p	PAR-CLIP	23592263
MIRT448813	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT448812	hsa-miR-5586-3p	PAR-CLIP	22100165
MIRT448808	hsa-miR-411-5p	PAR-CLIP	22100165
MIRT448811	hsa-miR-4790-3p	PAR-CLIP	22100165
MIRT448810	hsa-miR-3148	PAR-CLIP	22100165
MIRT448809	hsa-miR-6124	PAR-CLIP	22100165
MIRT448808	hsa-miR-411-5p	PAR-CLIP	22100165
MIRT448813	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT448812	hsa-miR-5586-3p	PAR-CLIP	22100165
MIRT448808	hsa-miR-411-5p	PAR-CLIP	22100165
MIRT448811	hsa-miR-4790-3p	PAR-CLIP	22100165
MIRT448810	hsa-miR-3148	PAR-CLIP	22100165
MIRT448809	hsa-miR-6124	PAR-CLIP	22100165
MIRT448808	hsa-miR-411-5p	PAR-CLIP	22100165
MIRT448807	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT448806	hsa-miR-3121-3p	PAR-CLIP	22100165
MIRT448805	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT614999	hsa-miR-103a-3p	HITS-CLIP	27418678
MIRT615000	hsa-miR-107	HITS-CLIP	27418678
MIRT614996	hsa-miR-1271-5p	HITS-CLIP	27418678
MIRT614997	hsa-miR-182-5p	HITS-CLIP	27418678
MIRT614993	hsa-miR-885-3p	HITS-CLIP	27418678
MIRT614998	hsa-miR-96-5p	HITS-CLIP	27418678
MIRT711254	hsa-miR-3646	HITS-CLIP	19536157
MIRT724049	hsa-miR-3140-5p	HITS-CLIP	19536157
MIRT448805	hsa-miR-203a-3p	HITS-CLIP	19536157
MIRT711253	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT711252	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT711251	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT711254	hsa-miR-3646	HITS-CLIP	19536157
MIRT448805	hsa-miR-203a-3p	HITS-CLIP	19536157
MIRT711253	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT711252	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT711251	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT711254	hsa-miR-3646	HITS-CLIP	19536157
MIRT448805	hsa-miR-203a-3p	HITS-CLIP	19536157
MIRT711253	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT711252	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT711251	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT658012	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT658011	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT658010	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT638698	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT638697	hsa-miR-1208	HITS-CLIP	23824327
MIRT638696	hsa-miR-6731-3p	HITS-CLIP	23824327
MIRT638695	hsa-miR-26a-1-3p	HITS-CLIP	23824327
MIRT638694	hsa-miR-26a-2-3p	HITS-CLIP	23824327
MIRT638693	hsa-miR-181b-2-3p	HITS-CLIP	23824327
MIRT638692	hsa-miR-181b-3p	HITS-CLIP	23824327
MIRT638690	hsa-miR-4420	HITS-CLIP	23824327
MIRT638691	hsa-miR-653-3p	HITS-CLIP	23824327
MIRT638689	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT638688	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT615000	hsa-miR-107	HITS-CLIP	23824327
MIRT614999	hsa-miR-103a-3p	HITS-CLIP	23824327
MIRT614998	hsa-miR-96-5p	HITS-CLIP	23824327
MIRT614997	hsa-miR-182-5p	HITS-CLIP	23824327
MIRT614996	hsa-miR-1271-5p	HITS-CLIP	23824327
MIRT614995	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT614994	hsa-miR-4307	HITS-CLIP	23824327
MIRT614993	hsa-miR-885-3p	HITS-CLIP	23824327
MIRT614992	hsa-miR-7150	HITS-CLIP	23824327
MIRT476522	hsa-miR-4438	HITS-CLIP	23824327
MIRT613011	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT613010	hsa-miR-31-3p	HITS-CLIP	23824327
MIRT613009	hsa-miR-1251-3p	HITS-CLIP	23824327
MIRT613008	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT613007	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT497806	hsa-miR-5003-3p	PAR-CLIP	22291592
MIRT497805	hsa-miR-1224-3p	PAR-CLIP	22291592
MIRT497804	hsa-miR-188-3p	PAR-CLIP	22291592
MIRT497803	hsa-miR-1260a	PAR-CLIP	22291592
MIRT497802	hsa-miR-1260b	PAR-CLIP	22291592
MIRT497801	hsa-miR-3156-3p	PAR-CLIP	22291592
MIRT497800	hsa-miR-183-3p	PAR-CLIP	22291592
MIRT497799	hsa-miR-4452	PAR-CLIP	22291592
MIRT497798	hsa-miR-4446-5p	PAR-CLIP	22291592
MIRT476522	hsa-miR-4438	PAR-CLIP	23592263
MIRT476521	hsa-miR-3622a-5p	PAR-CLIP	23592263
MIRT476520	hsa-miR-4269	PAR-CLIP	23592263
MIRT476519	hsa-miR-6715b-5p	PAR-CLIP	23592263
MIRT476518	hsa-miR-4329	PAR-CLIP	23592263
MIRT476517	hsa-miR-873-3p	PAR-CLIP	23592263
MIRT476515	hsa-miR-5095	PAR-CLIP	23592263
MIRT476516	hsa-miR-7151-3p	PAR-CLIP	23592263
MIRT476514	hsa-miR-3672	PAR-CLIP	23592263
MIRT476513	hsa-miR-6864-3p	PAR-CLIP	23592263
MIRT448813	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT448812	hsa-miR-5586-3p	PAR-CLIP	22100165
MIRT448808	hsa-miR-411-5p	PAR-CLIP	22100165
MIRT448811	hsa-miR-4790-3p	PAR-CLIP	22100165
MIRT448810	hsa-miR-3148	PAR-CLIP	22100165
MIRT448809	hsa-miR-6124	PAR-CLIP	22100165
MIRT448808	hsa-miR-411-5p	PAR-CLIP	22100165
MIRT448813	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT448812	hsa-miR-5586-3p	PAR-CLIP	22100165
MIRT448808	hsa-miR-411-5p	PAR-CLIP	22100165
MIRT448811	hsa-miR-4790-3p	PAR-CLIP	22100165
MIRT448810	hsa-miR-3148	PAR-CLIP	22100165
MIRT448809	hsa-miR-6124	PAR-CLIP	22100165
MIRT448808	hsa-miR-411-5p	PAR-CLIP	22100165
MIRT448807	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT448806	hsa-miR-3121-3p	PAR-CLIP	22100165
MIRT448805	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT755889	hsa-miR-384	Luciferase reporter assay, Western blotting, qRT-PCR	35416273
MIRT2232855	hsa-miR-30a	CLIP-seq
MIRT2232856	hsa-miR-30b	CLIP-seq
MIRT2232857	hsa-miR-30c	CLIP-seq
MIRT2232858	hsa-miR-30d	CLIP-seq
MIRT2232859	hsa-miR-30e	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	IDA	16412217
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:0005253	Function	Monoatomic anion channel activity	IEA
GO:0005254	Function	Chloride channel activity	IBA
GO:0005254	Function	Chloride channel activity	IEA
GO:0005635	Component	Nuclear envelope	IEA
GO:0005886	Component	Plasma membrane	IDA	26950270
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	2465923
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	ISS
GO:0006821	Process	Chloride transport	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	2465923
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IMP	26950270
GO:0009636	Process	Response to toxic substance	IEA
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	IEA
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	ISS
GO:0016020	Component	Membrane	IEA
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0022851	Function	GABA-gated chloride ion channel activity	IDA	2538761, 9039914, 16412217
GO:0022851	Function	GABA-gated chloride ion channel activity	IMP	26950270
GO:0030425	Component	Dendrite	IEA
GO:0030594	Function	Neurotransmitter receptor activity	IEA
GO:0032570	Process	Response to progesterone	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042698	Process	Ovulation cycle	IEA
GO:0043235	Component	Receptor complex	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048787	Component	Presynaptic active zone membrane	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:0071420	Process	Cellular response to histamine	IEA
GO:0071420	Process	Cellular response to histamine	ISS
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
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	26950270
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP	26950270
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	NAS	26950270
GO:0099634	Component	Postsynaptic specialization membrane	IEA
GO:0150047	Function	G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902476	Process	Chloride transmembrane transport	IDA	9039914
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	ISS
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA

Other IDs

• MIM: 137190
• HGNC: 4081
• e!Ensembl: ENSG00000163288

Protein

• UniProt ID: P18505
• Protein name: Gamma-aminobutyric acid receptor subunit beta-1 (GABA(A) receptor subunit beta-1) (GABAAR subunit beta-1)
• 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:10449790, PubMed:16412217, PubMed:26950270). GABA-gated chloride channels, also
• PDB: 9CTV, 9CXB, 9CXD
• 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 → 469	Neurotransmitter-gated ion-channel transmembrane region	Family

• Sequence:

  MWTVQNRESLGLLSFPVMITMVCCAHSTNEPSNMSYVKETVDRLLKGYDIRLRPDFGGPP
  VDVGMRIDVASIDMVSEVNMDYTLTMYFQQSWKDKRLSYSGIPLNLTLDNRVADQLWVPD
  TYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIE
  SYGYTTDDIEFYWNGGEGAVTGVNKIELPQFSIVDYKMVSKKVEFTTGAYPRLSLSFRLK
  RNIGYFILQTYMPSTLITILSWVSFWINYDASAARVALGITTVLTMTTISTHLRETLPKI
  PYVKAIDIYLMGCFVFVFLALLEYAFVNYIFFGKGPQKKGASKQDQSANEKNKLEMNKVQ
  VDAHGNILLSTLEIRNETSGSEVLTSVSDPKATMYSYDSASIQYRKPLSSREAYGRALDR
  HGVPSKGRIRRRASQLKVKIPDLTDVNSIDKWSRMFFPITFSLFNVVYWLYYVH

• Sequence length: 474

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Retrograde endocannabinoid signaling
Serotonergic synapse
GABAergic synapse
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, 45	Pathogenic; Likely pathogenic	rs886039817, rs886039818, rs1135401786, rs1728584859, rs1728474004	RCV000256298 RCV000256350 RCV000496103 RCV001262679 RCV001264781	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ 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
CANNABIS DEPENDENCE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GABRB1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATIC ENCEPHALOPATHY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOAFFECTIVE DISORDER, BIPOLAR TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORY PERIPHERAL NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	GWASCAT_DG	28753643		★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	Pubtator	39334212	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	16080114, 16770606, 23392927		★★☆☆☆ 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	16770606, 20066485, 25124326	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	19078961		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	19078961, 20583128		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	19078961, 19567891, 38482990	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	37518907	Associate	★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	GWASCAT_DG	28806749		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	38482990	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	28753643		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	37518907	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	36842888	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45	Epileptic encephalopathy	UNIPROT_DG	23934111, 26950270, 27273810		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	27273810		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45	Epileptic encephalopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45	Epileptic encephalopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	40233852	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	23392927		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	23392927		★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	23392927		★☆☆☆☆ Found in Text Mining only
Fulminant Hepatic Failure with Cerebral Edema	Fulminant Hepatic Failure With Cerebral Edema	CTD_human_DG	15929193		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatic Coma	Hepatic Coma	CTD_human_DG	15929193		★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic Encephalopathy	CTD_human_DG	15929193		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatic Stupor	Hepatic Stupor	CTD_human_DG	15929193		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	38482990	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	24719132	Associate	★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy Juvenile	Myoclonic epilepsy	Pubtator	36842888	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	GWASCAT_DG	30343302		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	38482990	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	19567891	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	28416970	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	CTD_human_DG	25070658		★☆☆☆☆ Found in Text Mining only
Schizoaffective disorder, bipolar type	Schizoaffective Disorder	BEFREE	20583128		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizoaffective disorder, bipolar type	Schizoaffective Disorder	PSYGENET_DG	20583128		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	20583128, 24365204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	20583128, 24365204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	16770606, 31618474, 37518907	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status epilepticus	Pubtator	37518907	Associate	★☆☆☆☆ Found in Text Mining only