CHRNB2 (cholinergic receptor nicotinic beta 2 subunit)

Gene

• Entrez ID: 1141
• Gene name: Cholinergic receptor nicotinic beta 2 subunit
• Gene symbol: CHRNB2
• Synonyms (NCBI Gene): EFNL3, nAChRB2
• Chromosome: 1
• Chromosome location: 1q21.3
• Summary: Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in r

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2072661	G>A	Drug-response	Non coding transcript variant, 3 prime UTR variant
rs74315291	G>A,C,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs112585933	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs144813907	C>G,T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs190374968	G>A,C,T	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs202079239	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs281865069	C>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs281865070	T>C	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs281865071	C>G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, synonymous variant
rs281865072	T>A,G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs767533378	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs796052329	CAA>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, inframe deletion, non coding transcript variant, 5 prime UTR variant
rs1064796396	G>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT496823	hsa-miR-6873-5p	PAR-CLIP	22291592
MIRT496822	hsa-miR-4292	PAR-CLIP	22291592
MIRT496821	hsa-miR-6791-5p	PAR-CLIP	22291592
MIRT496820	hsa-miR-3192-5p	PAR-CLIP	22291592
MIRT496819	hsa-miR-1291	PAR-CLIP	22291592
MIRT496818	hsa-miR-6775-3p	PAR-CLIP	22291592
MIRT496817	hsa-miR-6878-5p	PAR-CLIP	22291592
MIRT496816	hsa-miR-6731-5p	PAR-CLIP	22291592
MIRT496815	hsa-miR-8085	PAR-CLIP	22291592
MIRT496814	hsa-miR-30c-1-3p	PAR-CLIP	22291592
MIRT496813	hsa-miR-30c-2-3p	PAR-CLIP	22291592
MIRT496812	hsa-miR-6788-5p	PAR-CLIP	22291592
MIRT496811	hsa-miR-514b-5p	PAR-CLIP	22291592
MIRT738224	hsa-miR-4693-5p	HITS-CLIP	33718276
MIRT738225	hsa-miR-4318	HITS-CLIP	33718276
MIRT496823	hsa-miR-6873-5p	PAR-CLIP	22291592
MIRT496822	hsa-miR-4292	PAR-CLIP	22291592
MIRT496821	hsa-miR-6791-5p	PAR-CLIP	22291592
MIRT496820	hsa-miR-3192-5p	PAR-CLIP	22291592
MIRT496819	hsa-miR-1291	PAR-CLIP	22291592
MIRT496818	hsa-miR-6775-3p	PAR-CLIP	22291592
MIRT496817	hsa-miR-6878-5p	PAR-CLIP	22291592
MIRT496816	hsa-miR-6731-5p	PAR-CLIP	22291592
MIRT496815	hsa-miR-8085	PAR-CLIP	22291592
MIRT496814	hsa-miR-30c-1-3p	PAR-CLIP	22291592
MIRT496813	hsa-miR-30c-2-3p	PAR-CLIP	22291592
MIRT496812	hsa-miR-6788-5p	PAR-CLIP	22291592
MIRT496811	hsa-miR-514b-5p	PAR-CLIP	22291592
MIRT891988	hsa-miR-1	CLIP-seq
MIRT891989	hsa-miR-1184	CLIP-seq
MIRT891990	hsa-miR-1224-3p	CLIP-seq
MIRT891991	hsa-miR-1260	CLIP-seq
MIRT891992	hsa-miR-1260b	CLIP-seq
MIRT891993	hsa-miR-1269	CLIP-seq
MIRT891994	hsa-miR-1269b	CLIP-seq
MIRT891995	hsa-miR-1273f	CLIP-seq
MIRT891996	hsa-miR-1280	CLIP-seq
MIRT891997	hsa-miR-1285	CLIP-seq
MIRT891998	hsa-miR-1299	CLIP-seq
MIRT891999	hsa-miR-130a	CLIP-seq
MIRT892000	hsa-miR-130b	CLIP-seq
MIRT892001	hsa-miR-1321	CLIP-seq
MIRT892002	hsa-miR-148a	CLIP-seq
MIRT892003	hsa-miR-148b	CLIP-seq
MIRT892004	hsa-miR-150	CLIP-seq
MIRT892005	hsa-miR-152	CLIP-seq
MIRT892006	hsa-miR-1825	CLIP-seq
MIRT892007	hsa-miR-1976	CLIP-seq
MIRT892008	hsa-miR-19a	CLIP-seq
MIRT892009	hsa-miR-19b	CLIP-seq
MIRT892010	hsa-miR-206	CLIP-seq
MIRT892011	hsa-miR-301a	CLIP-seq
MIRT892012	hsa-miR-301b	CLIP-seq
MIRT892013	hsa-miR-3117-5p	CLIP-seq
MIRT892014	hsa-miR-3176	CLIP-seq
MIRT892015	hsa-miR-3187-5p	CLIP-seq
MIRT892016	hsa-miR-320e	CLIP-seq
MIRT892017	hsa-miR-3661	CLIP-seq
MIRT892018	hsa-miR-3666	CLIP-seq
MIRT892019	hsa-miR-3673	CLIP-seq
MIRT892020	hsa-miR-377	CLIP-seq
MIRT892021	hsa-miR-3922-3p	CLIP-seq
MIRT892022	hsa-miR-425	CLIP-seq
MIRT892023	hsa-miR-4252	CLIP-seq
MIRT892024	hsa-miR-4254	CLIP-seq
MIRT892025	hsa-miR-4256	CLIP-seq
MIRT892026	hsa-miR-4295	CLIP-seq
MIRT892027	hsa-miR-4421	CLIP-seq
MIRT892028	hsa-miR-4457	CLIP-seq
MIRT892029	hsa-miR-4529-3p	CLIP-seq
MIRT892030	hsa-miR-4534	CLIP-seq
MIRT892031	hsa-miR-454	CLIP-seq
MIRT892032	hsa-miR-4639-3p	CLIP-seq
MIRT892033	hsa-miR-4640-5p	CLIP-seq
MIRT892034	hsa-miR-4641	CLIP-seq
MIRT892035	hsa-miR-4686	CLIP-seq
MIRT892036	hsa-miR-4691-3p	CLIP-seq
MIRT738227	hsa-miR-4691-5p	CLIP-seq
MIRT892037	hsa-miR-4713-5p	CLIP-seq
MIRT892038	hsa-miR-4717-3p	CLIP-seq
MIRT892039	hsa-miR-4726-5p	CLIP-seq
MIRT892040	hsa-miR-4738-3p	CLIP-seq
MIRT892041	hsa-miR-4739	CLIP-seq
MIRT892042	hsa-miR-4756-3p	CLIP-seq
MIRT892043	hsa-miR-4756-5p	CLIP-seq
MIRT892044	hsa-miR-4757-5p	CLIP-seq
MIRT892045	hsa-miR-4802-5p	CLIP-seq
MIRT892046	hsa-miR-5096	CLIP-seq
MIRT892047	hsa-miR-513b	CLIP-seq
MIRT892048	hsa-miR-532-3p	CLIP-seq
MIRT892049	hsa-miR-612	CLIP-seq
MIRT892050	hsa-miR-613	CLIP-seq
MIRT892051	hsa-miR-619	CLIP-seq
MIRT892052	hsa-miR-627	CLIP-seq
MIRT892053	hsa-miR-631	CLIP-seq
MIRT892054	hsa-miR-671-5p	CLIP-seq
MIRT892055	hsa-miR-875-3p	CLIP-seq
MIRT892056	hsa-miR-890	CLIP-seq
MIRT738226	hsa-miR-892a	CLIP-seq
MIRT892057	hsa-miR-924	CLIP-seq
MIRT1964340	hsa-miR-1207-5p	CLIP-seq
MIRT1964341	hsa-miR-1228	CLIP-seq
MIRT1964342	hsa-miR-1238	CLIP-seq
MIRT892001	hsa-miR-1321	CLIP-seq
MIRT1964343	hsa-miR-2110	CLIP-seq
MIRT1964344	hsa-miR-2355-5p	CLIP-seq
MIRT1964345	hsa-miR-2467-3p	CLIP-seq
MIRT1964346	hsa-miR-3124-3p	CLIP-seq
MIRT1964347	hsa-miR-3126-5p	CLIP-seq
MIRT1964348	hsa-miR-3153	CLIP-seq
MIRT1964349	hsa-miR-3185	CLIP-seq
MIRT1964350	hsa-miR-3612	CLIP-seq
MIRT1964351	hsa-miR-3667-3p	CLIP-seq
MIRT1964352	hsa-miR-3977	CLIP-seq
MIRT1964353	hsa-miR-4271	CLIP-seq
MIRT1964354	hsa-miR-4276	CLIP-seq
MIRT1964355	hsa-miR-4297	CLIP-seq
MIRT1964356	hsa-miR-4313	CLIP-seq
MIRT1964357	hsa-miR-4443	CLIP-seq
MIRT1964358	hsa-miR-4447	CLIP-seq
MIRT1964359	hsa-miR-4472	CLIP-seq
MIRT892030	hsa-miR-4534	CLIP-seq
MIRT892034	hsa-miR-4641	CLIP-seq
MIRT1964360	hsa-miR-4725-3p	CLIP-seq
MIRT1964361	hsa-miR-4736	CLIP-seq
MIRT892041	hsa-miR-4739	CLIP-seq
MIRT892043	hsa-miR-4756-5p	CLIP-seq
MIRT1964362	hsa-miR-4763-3p	CLIP-seq
MIRT892045	hsa-miR-4802-5p	CLIP-seq
MIRT1964363	hsa-miR-491-5p	CLIP-seq
MIRT1964364	hsa-miR-510	CLIP-seq
MIRT1964365	hsa-miR-512-5p	CLIP-seq
MIRT1964366	hsa-miR-583	CLIP-seq
MIRT1964367	hsa-miR-650	CLIP-seq
MIRT2200475	hsa-miR-125a-5p	CLIP-seq
MIRT2200476	hsa-miR-125b	CLIP-seq
MIRT2200477	hsa-miR-145	CLIP-seq
MIRT2200478	hsa-miR-3140-3p	CLIP-seq
MIRT2200479	hsa-miR-329	CLIP-seq
MIRT2200480	hsa-miR-362-3p	CLIP-seq
MIRT2200481	hsa-miR-4267	CLIP-seq
MIRT2200482	hsa-miR-431	CLIP-seq
MIRT2200483	hsa-miR-4319	CLIP-seq
MIRT2200484	hsa-miR-4675	CLIP-seq
MIRT2200485	hsa-miR-4690-5p	CLIP-seq
MIRT2200486	hsa-miR-4711-3p	CLIP-seq
MIRT2200487	hsa-miR-4732-3p	CLIP-seq
MIRT2200488	hsa-miR-4741	CLIP-seq
MIRT2200489	hsa-miR-513a-3p	CLIP-seq
MIRT2200490	hsa-miR-587	CLIP-seq
MIRT2200491	hsa-miR-670	CLIP-seq
MIRT892004	hsa-miR-150	CLIP-seq
MIRT2386068	hsa-miR-1827	CLIP-seq
MIRT1964350	hsa-miR-3612	CLIP-seq
MIRT2386069	hsa-miR-432	CLIP-seq
MIRT1964357	hsa-miR-4443	CLIP-seq
MIRT892037	hsa-miR-4713-5p	CLIP-seq
MIRT892048	hsa-miR-532-3p	CLIP-seq
MIRT1964367	hsa-miR-650	CLIP-seq
MIRT892056	hsa-miR-890	CLIP-seq
MIRT2386070	hsa-miR-942	CLIP-seq
MIRT1964343	hsa-miR-2110	CLIP-seq
MIRT2447017	hsa-miR-3151	CLIP-seq
MIRT2447018	hsa-miR-34a	CLIP-seq
MIRT2447019	hsa-miR-34c-5p	CLIP-seq
MIRT1964353	hsa-miR-4271	CLIP-seq
MIRT2447020	hsa-miR-4302	CLIP-seq
MIRT2447021	hsa-miR-4436b-3p	CLIP-seq
MIRT1964358	hsa-miR-4447	CLIP-seq
MIRT1964359	hsa-miR-4472	CLIP-seq
MIRT2447022	hsa-miR-449a	CLIP-seq
MIRT2447023	hsa-miR-449b	CLIP-seq
MIRT1964360	hsa-miR-4725-3p	CLIP-seq
MIRT1964363	hsa-miR-491-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IDA	12189247
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005230	Function	Extracellular ligand-gated monoatomic ion channel activity	IEA
GO:0005515	Function	Protein binding	IPI	8663494, 27344019, 29720657, 33961781
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005892	Component	Acetylcholine-gated channel complex	IBA
GO:0005892	Component	Acetylcholine-gated channel complex	IDA	8906617, 16835356, 17132685, 20881005, 24467848, 27698419, 29720657, 38161283, 38454578
GO:0005892	Component	Acetylcholine-gated channel complex	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	NAS	8906617
GO:0006816	Process	Calcium ion transport	ISS
GO:0006939	Process	Smooth muscle contraction	ISS
GO:0007165	Process	Signal transduction	IDA	8906617
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007271	Process	Synaptic transmission, cholinergic	IDA	17132685, 27698419, 29720657, 38454578
GO:0007271	Process	Synaptic transmission, cholinergic	ISS
GO:0007601	Process	Visual perception	ISS
GO:0007605	Process	Sensory perception of sound	ISS
GO:0007612	Process	Learning	IMP	15964197
GO:0007613	Process	Memory	IMP	15964197
GO:0007626	Process	Locomotory behavior	ISS
GO:0008306	Process	Associative learning	ISS
GO:0008542	Process	Visual learning	IMP	15964197
GO:0009897	Component	External side of plasma membrane	ISS
GO:0014059	Process	Regulation of dopamine secretion	ISS
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	TAS	20438829
GO:0015464	Function	Acetylcholine receptor activity	IBA
GO:0015464	Function	Acetylcholine receptor activity	IDA	8906617
GO:0015464	Function	Acetylcholine receptor activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	8906617
GO:0019233	Process	Sensory perception of pain	ISS
GO:0021562	Process	Vestibulocochlear nerve development	ISS
GO:0021631	Process	Optic nerve morphogenesis	ISS
GO:0021771	Process	Lateral geniculate nucleus development	ISS
GO:0021952	Process	Central nervous system projection neuron axonogenesis	ISS
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IBA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IDA	8906617, 17132685, 18387948, 27698419, 29720657, 38454578
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	ISS
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	TAS	20438829
GO:0030890	Process	Positive regulation of B cell proliferation	ISS
GO:0032225	Process	Regulation of synaptic transmission, dopaminergic	ISS
GO:0033603	Process	Positive regulation of dopamine secretion	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034703	Component	Cation channel complex	IDA	16835356, 17132685, 20881005, 24467848, 38161283, 38454578
GO:0035094	Process	Response to nicotine	IDA	12189247
GO:0035094	Process	Response to nicotine	IEA
GO:0035095	Process	Behavioral response to nicotine	IMP	17559419
GO:0035176	Process	Social behavior	ISS
GO:0042053	Process	Regulation of dopamine metabolic process	ISS
GO:0042113	Process	B cell activation	ISS
GO:0042166	Function	Acetylcholine binding	IC	8906617
GO:0042166	Function	Acetylcholine binding	IMP	15964197
GO:0042220	Process	Response to cocaine	ISS
GO:0042320	Process	Regulation of circadian sleep/wake cycle, REM sleep	ISS
GO:0043005	Component	Neuron projection	IBA
GO:0044853	Component	Plasma membrane raft	ISS
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045471	Process	Response to ethanol	ISS
GO:0045759	Process	Negative regulation of action potential	ISS
GO:0048814	Process	Regulation of dendrite morphogenesis	ISS
GO:0050877	Process	Nervous system process	IMP	17900292
GO:0050890	Process	Cognition	IMP	17559419
GO:0051899	Process	Membrane depolarization	IBA
GO:0051899	Process	Membrane depolarization	ISS
GO:0051963	Process	Regulation of synapse assembly	ISS
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0060084	Process	Synaptic transmission involved in micturition	ISS
GO:0095500	Process	Acetylcholine receptor signaling pathway	IBA
GO:0095500	Process	Acetylcholine receptor signaling pathway	IDA	17132685, 27698419, 29720657, 38454578
GO:0095500	Process	Acetylcholine receptor signaling pathway	IEA
GO:0095500	Process	Acetylcholine receptor signaling pathway	ISS
GO:0097060	Component	Synaptic membrane	IEA
GO:0098878	Component	Neurotransmitter receptor complex	IDA	16835356, 17132685, 20881005, 24467848, 38161283, 38454578
GO:1905144	Process	Response to acetylcholine	ISS

Other IDs

• MIM: 118507
• HGNC: 1962
• e!Ensembl: ENSG00000160716

Protein

• UniProt ID: P17787
• Protein name: Neuronal acetylcholine receptor subunit beta-2
• Protein function: Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nA
• PDB: 2K58, 2K59, 2KSR, 2LM2, 5KXI, 6CNJ, 6CNK, 6UR8, 6USF, 8SSZ, 8ST0, 8ST1, 8ST2, 8ST3, 8ST4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02931	Neur_chan_LBD	29 → 234	Neurotransmitter-gated ion-channel ligand binding domain	Family
  PF02932	Neur_chan_memb	241 → 478	Neurotransmitter-gated ion-channel transmembrane region	Family

• Sequence:

  MARRCGPVALLLGFGLLRLCSGVWGTDTEERLVEHLLDPSRYNKLIRPATNGSELVTVQL
  MVSLAQLISVHEREQIMTTNVWLTQEWEDYRLTWKPEEFDNMKKVRLPSKHIWLPDVVLY
  NNADGMYEVSFYSNAVVSYDGSIFWLPPAIYKSACKIEVKHFPFDQQNCTMKFRSWTYDR
  TEIDLVLKSEVASLDDFTPSGEWDIVALPGRRNENPDDSTYVDITYDFIIRRKPLFYTIN
  LIIPCVLITSLAILVFYLPSDCGEKMTLCISVLLALTVFLLLISKIVPPTSLDVPLVGKY
  LMFTMVLVTFSIVTSVCVLNVHHRSPTTHTMAPWVKVVFLEKLPALLFMQQPRHHCARQR
  LRLRRRQREREGAGALFFREAPGADSCTCFVNRASVQGLAGAFGAEPAPVAGPGRSGEPC
  GCGLREAVDGVRFIADHMRSEDDDQSVSEDWKYVAMVIDRLFLWIFVFVCVFGTIGMFLQ
  PLFQNYTTTTFLHSDHSAPSSK

• Sequence length: 502

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Cholinergic synapse
Nicotine addiction
Chemical carcinogenesis - receptor activation

Reactome:

Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
Highly calcium permeable nicotinic acetylcholine receptors

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
Autosomal dominant nocturnal frontal lobe epilepsy	Pathogenic; Likely pathogenic	rs74315291, rs281865070	RCV001216785 RCV003097704 RCV001382226	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant nocturnal frontal lobe epilepsy 1	Pathogenic	rs74315291	RCV003493411	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant nocturnal frontal lobe epilepsy 3	Likely pathogenic; Pathogenic	rs1696167453, rs2526365241, rs74315291	RCV001332574 RCV003985001 RCV000019047 RCV000019048 RCV002286498	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRNB2-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deeply set eye	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, FRONTAL LOBE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, NOCTURNAL FRONTAL LOBE, 3	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal clonic seizure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL ONSET CLONIC EPILEPTIC SEIZURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED SEIZURES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized-onset seizure	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE WITHDRAWAL SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	18830724	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	CTD_human_DG	23419392		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety States, Neurotic	Anxiety Disorder	CTD_human_DG	23419392		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	CTD_human_DG	21748252		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CTD_human_DG	21748252		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	BEFREE	23032131		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	LHGDN	15046869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	15046869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal Epilepsy	ORPHANET_DG	11062464		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant nocturnal frontal lobe epilepsy	Nocturnal Epilepsy	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal Epilepsy	BEFREE	11104662, 11952766, 12195439, 12782965, 15245761, 17602836, 17662253, 17900292, 18456869, 18534914, 19058950, 19383498, 21497487, 22036597, 22897520, 23032131		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal frontal lobe epilepsy	Pubtator	11952766, 17385675, 17900292, 22036597	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal Epilepsy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	38302916	Associate	★☆☆☆☆ Found in Text Mining only
Classical Lissencephaly	Lissencephaly	BEFREE	29338612		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	22036597	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	38302916	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	LHGDN	16023355		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	25640319		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	11771745		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	28600779		★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	25194487		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	11579435, 15964197		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	21204805	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Anterior Fronto-Polar	Epilepsy	CTD_human_DG	14996991		★☆☆☆☆ Found in Text Mining only
Epilepsy, Cingulate	Epilepsy	CTD_human_DG	14996991		★☆☆☆☆ Found in Text Mining only
Epilepsy, Frontal Lobe	Epilepsy	LHGDN	11952766, 12185808, 12681012, 17900292		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Frontal Lobe	Epilepsy	CTD_human_DG	14996991		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Frontal Lobe	Epilepsy	BEFREE	15033200, 17385675, 18226955, 21497487, 25770198, 26475232		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Generalized	Epilepsy	BEFREE	26475232		★☆☆☆☆ Found in Text Mining only
Epilepsy, Nocturnal Frontal Lobe, Type 3	Epilepsy	UNIPROT_DG	11062464, 11104662		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Nocturnal Frontal Lobe, Type 3	Epilepsy	GENOMICS_ENGLAND_DG	11062464, 11094099, 11104662		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Nocturnal Frontal Lobe, Type 3	Epilepsy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Nocturnal Frontal Lobe, Type 3	Epilepsy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Nocturnal Frontal Lobe, Type 4	Epilepsy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy, Opercular	Epilepsy	CTD_human_DG	14996991		★☆☆☆☆ Found in Text Mining only
Epilepsy, Orbito-Frontal	Epilepsy	CTD_human_DG	14996991		★☆☆☆☆ Found in Text Mining only
Epilepsy, Supplementary Motor	Epilepsy	CTD_human_DG	14996991		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Frontal Epilepsy, Benign, Childhood	Epilepsy	CTD_human_DG	14996991		★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	17385675		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	22036597	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30175534		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	25640319		★☆☆☆☆ Found in Text Mining only
Minimal Brain Dysfunction	Minimal Brain Dysfunction	CTD_human_DG	21748252		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	23032131		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	17192785		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16636791, 18762859		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	16636791		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	16636791, 18762859		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	22036597	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short Sleeper Syndrome	Short Sleeper Syndromes	CTD_human_DG	12228730		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	CTD_human_DG	12228730		★☆☆☆☆ Found in Text Mining only
Sleep Wake Disorders	Sleep Wake Disorders	CTD_human_DG	12228730		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30175534		★☆☆☆☆ Found in Text Mining only