Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	2775
Gene name	G protein subunit alpha o1
Gene symbol	GNAO1
Synonyms (NCBI Gene)	DEE17EIEE17G-ALPHA-oGNAOHG1GHLA-DQB1NEDIM
Chromosome	16
Chromosome location	16q13
Summary	The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have

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SNP ID	Visualize variation	Clinical significance	Consequence
rs587777054	T>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs587777055	A>G	Pathogenic	Missense variant, coding sequence variant
rs587777056	CATTCAAGAACCTCCACTTCA>-	Pathogenic	Inframe deletion, coding sequence variant
rs587777057	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs797044878	G>A,T	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs797044951	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs878853051	A>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs886039494	C>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1057518440	C>A	Pathogenic	Coding sequence variant, missense variant
rs1057518678	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1064794533	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1064795384	T>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064797211	GT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1085307876	G>A	Pathogenic	Genic downstream transcript variant, intron variant
rs1085307894	A>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1085307932	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1114167431	A>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555507477	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555507479	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555508316	T>C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1567488305	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1596867702	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1596871452	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1596872804	G>A	Pathogenic	Splice donor variant

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miRTarBase ID	miRNA	Experiments
MIRT1023483	hsa-miR-1231	CLIP-seq
MIRT1023484	hsa-miR-1285	CLIP-seq
MIRT1023485	hsa-miR-151-3p	CLIP-seq
MIRT1023486	hsa-miR-3119	CLIP-seq
MIRT1023487	hsa-miR-3150a-3p	CLIP-seq
MIRT1023488	hsa-miR-3175	CLIP-seq
MIRT1023489	hsa-miR-3184	CLIP-seq
MIRT1023490	hsa-miR-3187-5p	CLIP-seq
MIRT1023491	hsa-miR-34a	CLIP-seq
MIRT1023492	hsa-miR-34c-5p	CLIP-seq
MIRT1023493	hsa-miR-378g	CLIP-seq
MIRT1023494	hsa-miR-411	CLIP-seq
MIRT1023495	hsa-miR-423-5p	CLIP-seq
MIRT1023496	hsa-miR-4302	CLIP-seq
MIRT1023497	hsa-miR-4463	CLIP-seq
MIRT1023498	hsa-miR-4486	CLIP-seq
MIRT1023499	hsa-miR-4499	CLIP-seq
MIRT1023500	hsa-miR-449a	CLIP-seq
MIRT1023501	hsa-miR-449b	CLIP-seq
MIRT1023502	hsa-miR-4651	CLIP-seq
MIRT1023503	hsa-miR-4662a-3p	CLIP-seq
MIRT1023504	hsa-miR-4728-5p	CLIP-seq
MIRT1023505	hsa-miR-491-5p	CLIP-seq
MIRT1023506	hsa-miR-608	CLIP-seq
MIRT1023507	hsa-miR-612	CLIP-seq
MIRT1023508	hsa-miR-939	CLIP-seq
MIRT1023509	hsa-miR-1254	CLIP-seq
MIRT1023510	hsa-miR-1291	CLIP-seq
MIRT1023511	hsa-miR-21	CLIP-seq
MIRT1023512	hsa-miR-214	CLIP-seq
MIRT1023513	hsa-miR-2277-3p	CLIP-seq
MIRT1023514	hsa-miR-2355-5p	CLIP-seq
MIRT1023515	hsa-miR-3064-5p	CLIP-seq
MIRT1023516	hsa-miR-3116	CLIP-seq
MIRT1023517	hsa-miR-328	CLIP-seq
MIRT1023518	hsa-miR-3619-5p	CLIP-seq
MIRT1023519	hsa-miR-3660	CLIP-seq
MIRT1023520	hsa-miR-370	CLIP-seq
MIRT1023521	hsa-miR-4269	CLIP-seq
MIRT1023522	hsa-miR-4270	CLIP-seq
MIRT1023523	hsa-miR-4441	CLIP-seq
MIRT1023524	hsa-miR-4526	CLIP-seq
MIRT1023525	hsa-miR-4529-5p	CLIP-seq
MIRT1023526	hsa-miR-4645-5p	CLIP-seq
MIRT1023527	hsa-miR-4673	CLIP-seq
MIRT1023528	hsa-miR-4687-3p	CLIP-seq
MIRT1023529	hsa-miR-4718	CLIP-seq
MIRT1023530	hsa-miR-590-5p	CLIP-seq
MIRT1023531	hsa-miR-596	CLIP-seq
MIRT1023532	hsa-miR-637	CLIP-seq
MIRT1023533	hsa-miR-661	CLIP-seq
MIRT1023534	hsa-miR-761	CLIP-seq
MIRT1023535	hsa-miR-873	CLIP-seq
MIRT1023485	hsa-miR-151-3p	CLIP-seq
MIRT1023491	hsa-miR-34a	CLIP-seq
MIRT1023492	hsa-miR-34c-5p	CLIP-seq
MIRT1023494	hsa-miR-411	CLIP-seq
MIRT1023496	hsa-miR-4302	CLIP-seq
MIRT1023497	hsa-miR-4463	CLIP-seq
MIRT1023499	hsa-miR-4499	CLIP-seq
MIRT1023500	hsa-miR-449a	CLIP-seq
MIRT1023501	hsa-miR-449b	CLIP-seq
MIRT1023503	hsa-miR-4662a-3p	CLIP-seq
MIRT2236340	hsa-miR-587	CLIP-seq
MIRT2236341	hsa-miR-885-5p	CLIP-seq
MIRT2540081	hsa-miR-1271	CLIP-seq
MIRT2540082	hsa-miR-182	CLIP-seq
MIRT2540083	hsa-miR-433	CLIP-seq
MIRT2540084	hsa-miR-4470	CLIP-seq
MIRT2540085	hsa-miR-96	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	TAS	1899283
GO:0003925	Function	G protein activity	IEA
GO:0003925	Function	G protein activity	ISS
GO:0005515	Function	Protein binding	IPI	17500595, 32814053, 33961781, 34685729, 37207277, 37776851
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005834	Component	Heterotrimeric G-protein complex	IBA
GO:0005834	Component	Heterotrimeric G-protein complex	IDA	29925951
GO:0005886	Component	Plasma membrane	IDA	34685729
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006904	Process	Vesicle docking involved in exocytosis	IEA
GO:0006936	Process	Muscle contraction	TAS	9050846
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IEA
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IDA	33408414
GO:0007198	Process	Adenylate cyclase-inhibiting serotonin receptor signaling pathway	IDA	29925951
GO:0007212	Process	G protein-coupled dopamine receptor signaling pathway	IBA
GO:0007212	Process	G protein-coupled dopamine receptor signaling pathway	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008016	Process	Regulation of heart contraction	IEA
GO:0010854	Function	Adenylate cyclase regulator activity	ISS
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019001	Function	Guanyl nucleotide binding	IEA
GO:0030425	Component	Dendrite	IEA
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	IBA
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	IEA
GO:0031821	Function	G protein-coupled serotonin receptor binding	IBA
GO:0031852	Function	Mu-type opioid receptor binding	IBA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0044297	Component	Cell body	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0046676	Process	Negative regulation of insulin secretion	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051430	Function	Corticotropin-releasing hormone receptor 1 binding	IBA
GO:0098688	Component	Parallel fiber to Purkinje cell synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099170	Process	Postsynaptic modulation of chemical synaptic transmission	IEA

MIM	HGNC	e!Ensembl
139311	4389	ENSG00000087258

P09471

Protein name

Guanine nucleotide-binding protein G(o) subunit alpha (EC 3.6.5.-)

Protein function

Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:29925951, PubMed:33408414). The alpha chain contains the guanine nucleotide binding

PDB

6FUF , 6G79 , 6K41 , 6OIK , 6WWZ , 7D76 , 7D77 , 7EJ0 , 7EJ8 , 7EJA , 7EJK , 7QVM , 7T8X , 7T90 , 7T94 , 7T96 , 7W2Z , 7W6P , 7W7E , 7XJJ , 7Y24 , 8DZQ , 8E9X , 8FN1 , 8HPT , 8HQC , 8I95 , 8I97 , 8I9L , 8I9S , 8IA2 , 8IEC , 8IED , 8IY9 , 8IYH , 8IYW , 8J6D , 8JER , 8JHN , 8JZP , 8JZZ , 8TZQ , 8U02 , 8XWV , 8XX3 , 8XX6 , 8XX7 , 8XXH , 8XXR , 8XXX , 8XXZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00503	G-alpha	13 → 343	G-protein alpha subunit	Domain

Sequence

MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDG
FSGEDVKQYKPVVYSNTIQSLAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPF
SAELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSLDRIGAADYQPTEQDILRTRV
KTTGIVETHFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDET
TNRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKSPLTICFPEYTGPNTYEDA
AAYIQAQFESKNRSPNKEIYCHMTCATDTNNIQVVFDAVTDIIIANNLRGCGLY

Sequence length

354

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Rap1 signaling pathway	PLC beta mediated events
Hormone signaling	G-protein activation
Circadian entrainment	Ca2+ pathway
Retrograde endocannabinoid signaling	Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
Glutamatergic synapse
Cholinergic synapse
Serotonergic synapse
GABAergic synapse
Dopaminergic synapse
Long-term depression
Estrogen signaling pathway
Melanogenesis
Oxytocin signaling pathway
Relaxin signaling pathway
Morphine addiction
Alcoholism
Chagas disease
Toxoplasmosis
Human cytomegalovirus infection
Human immunodeficiency virus 1 infection

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar Show/Hide Causal Diseases (16)
Abnormality of the nervous system	Pathogenic	rs797044951, rs587777057	RCV001814097 RCV001814039	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chorea	Likely pathogenic; Pathogenic	rs1064794533, rs1596871452	RCV001003613 RCV001003611	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Choreoathetosis	Pathogenic	rs1596872804	RCV001003614	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy	Pathogenic; Likely pathogenic	rs2037920369, rs2143705016, rs2143272260, rs2143647375, rs2143664797, rs2143664808, rs1297225571, rs2143272046, rs758779535, rs797044878, rs797044951, rs797045599, rs2506531670, rs869312939, rs886039494 View all (18 more)	RCV001315820 RCV001972962 RCV001889307 RCV001976534 RCV001949659 View all (34 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy, 1	Likely pathogenic	rs886041766	RCV000714659	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 17	Pathogenic; Likely pathogenic	rs2143272046, rs2143664881, rs1114167431, rs2143664861, rs1057518440, rs2543427201, rs2506529308, rs886041766, rs2543432175, rs797044878, rs797045599, rs2506529438, rs886039494, rs886041715, rs869312939 View all (20 more)	RCV002246570 RCV002249062 RCV002249063 RCV002250020 RCV002250021 View all (34 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental delay	Pathogenic	rs797044951	RCV001580372	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dyskinesia	Likely pathogenic; Pathogenic	rs1064794533, rs1596871452	RCV001003613 RCV001003611	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Genetic developmental and epileptic encephalopathy	Likely pathogenic; Pathogenic	rs797045599	RCV005625426	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GNAO1-related developmental delay-seizures-movement disorder spectrum	Pathogenic; Likely pathogenic	rs797044951, rs2143699701	RCV003996903 RCV005232257	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GNAO1-related disorder	Pathogenic; Likely pathogenic	rs886039494, rs1064794533, rs1085307876, rs886041715, rs587777057	RCV003401217 RCV005230943 RCV003900029 RCV005870916 RCV003421966	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GNAO1-Related Neurodevelopmental Disorder	Pathogenic	rs587777057	RCV005229879	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Pathogenic	rs587777057	RCV001252685	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Movement disorder	Pathogenic; Likely pathogenic	rs886039494, rs2037743862	RCV001003612 RCV003484997	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with involuntary movements	Pathogenic; Likely pathogenic	rs2143665312, rs2143699753, rs2143272172, rs2543432061, rs797044878, rs797044951, rs797045599, rs2143272046, rs2506529438, rs886039494, rs2506529268, rs869312939, rs2543432234, rs1057518678, rs1064794533 View all (11 more)	RCV001374408 RCV001730048 RCV001823038 RCV002287869 RCV000490633 View all (23 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rare genetic intellectual disability	Pathogenic	rs587777057	RCV001256978	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (27)
BREAST CANCER	—	GWAS catalog	37380357	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	35803233	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	28284560	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	32047268	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17	—	CTD, HPO CTD, HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKINETIC SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Orphanet	23993195	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	29942082	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic encephalopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR	—	GWAS catalog	34982113	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	30804565, 35835914	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	30643256, 38177345	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOVEMENT DISORDERS	—	Disgenet, ClinGen	ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	29942082	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	30643256	★★★★★ ★★☆☆☆ 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	12199159	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (164)
Addison Disease	Addison`s Disease	BEFREE	20455895		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of rectum	Adenocarcinoma Of Rectum	BEFREE	28350845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agranulocytosis	Agranulocytosis	BEFREE	29298994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	17212706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	37960721	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	22965006	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	11240447, 20455895, 30541895, 7608264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	29942082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	25014031, 27072799, 27476654, 28747448, 28817111, 30682224, 34685729, 35722775, 36980817, 37001522, 37887313	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21317923		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	26894955	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23984917, 28350845	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23984917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34900204	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	17379283		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26043775	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	19127454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataplexy	Cataplexy	BEFREE	11833861, 12405606, 16171287, 29149785, 9456467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	12515291		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	35076175, 37034444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	8529095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	8529095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	8529095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	35722775, 36054588	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Choreoathetosis	Choreoathetosis	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chronic kidney disease stage 5	Kidney Disease	BEFREE	23304791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	27072799	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	35725943	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29381923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29381923	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30987631	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26043775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	12656131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	9714476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	7883862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27072799, 27343026, 30682224, 34685729, 36980817, 37887313	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	11772903, 12637984		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	11772903, 12637984, 18279373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10199786, 10331157, 10588452, 10720050, 10782017, 11064106, 11206413, 11240447, 11474874, 11914751, 12410803, 12637984, 12911285, 1412411, 15336779 View all (8 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	11240447		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	18279373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinesias	Dyskinesia	Pubtator	27072799	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskinetic syndrome	Dyskinetic Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	35722775, 37034444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy	Epileptic encephalopathy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	ORPHANET_DG	23993195		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	CLINGEN_DG	23993195, 25262651, 25966631, 26485252, 27072799, 27476654, 28202424, 28357411, 28503590, 28628939, 28747448, 29390993, 9050846		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	BEFREE	25966631		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalopathies	Epileptic encephalopathy	BEFREE	24700286, 27072799, 28817111, 30642806, 30682224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	26971296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	25966631, 26060304, 27068059, 28202424, 29758257, 30642806, 30682176		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	28747448, 34685729, 36980817, 37001522	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	CTD_human_DG	29942082		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	29942082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	23993195, 24700286, 25966631, 26060304, 28202424		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epileptic encephalopathy	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	23993195		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epileptic encephalopathy	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	37482918, 37867425, 37887313	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	Epileptic encephalopathy	CLINGEN_DG	23993195, 25262651, 25966631, 26485252, 27072799, 27476654, 28202424, 28357411, 28503590, 28628939, 28747448, 29390993, 9050846		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17	Epileptic encephalopathy	UNIPROT_DG	23993195, 25966631, 26485252, 27476654, 27864847		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	23993195		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17	Epileptic encephalopathy	BEFREE	24700286		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17	Epileptic encephalopathy	CLINVAR_DG	25966631, 29961512		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17	Epileptic encephalopathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21	Epileptic encephalopathy	CLINVAR_DG	25966631, 26060304, 26485252, 27068059, 27625011, 27864847, 28357411, 28688840, 29390993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Erythema Multiforme	Erythema	BEFREE	1940441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal seizures, afebril	Focal Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized clonic seizures	Clonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	25966631, 27625011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	7608264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	27485170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	BEFREE	18388176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	24982418, 36054588	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	12005241, 7638860		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunoglobulin A deficiency (disorder)	Immunoglobulin A deficiency	BEFREE	1356100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	20345872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	12656131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	27072799, 34685729	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	BEFREE	12005241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	23304791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	36980817	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lingual-Facial-Buccal Dyskinesia	Orofacial dyskinesia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23984917, 29709639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	16690410, 18552411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34900204	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	8529095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29381923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	12215825		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Migraine Disorders	Migraine	BEFREE	18345414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	18345414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	21220323, 23993195, 25590979, 25966631, 26060304, 26485252, 27068059, 28357411, 28503590, 28747448, 9050846		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement Disorders	CLINGEN_DG	25966631, 26060304, 27068059, 27625011, 28357411, 29935962		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement Disorders	BEFREE	26060304, 27068059, 27625011, 27916449, 28202424, 29758257, 30103967, 30642806, 30682176, 30682224		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement disorder	Pubtator	27072799, 28747448, 30682224, 33446253, 34685729, 35722775, 36980817	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenia Gravis	Myasthenia Gravis	BEFREE	29736936, 30741378		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	19127454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	12097985, 12405606, 16754256, 17682655, 18388176, 19039244, 21292329, 22213222, 25197808, 30187366, 9456467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy type 1	Narcolepsy	BEFREE	31328572, 31730293		★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy-Cataplexy Syndrome	Narcolepsy-Cataplexy Syndrome	BEFREE	16171287, 16401544, 17702265, 18363310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	8529095		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29758257, 29961512, 31328572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	34685729	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS	Neurodevelopmental Disorder With Involuntary Movements	GENOMICS_ENGLAND_DG	23993195, 26060304, 27068059, 28357411		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS	Neurodevelopmental Disorder With Involuntary Movements	UNIPROT_DG	25966631, 26060304, 27068059, 27625011, 28357411		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS	Neurodevelopmental Disorder With Involuntary Movements	BEFREE	29758257		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS	Neurodevelopmental Disorder With Involuntary Movements	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	27343026		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	29942082		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	25156535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	24549219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parasomnia	Parasomnia	BEFREE	26951409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism	Pseudohypoparathyroidism	Pubtator	24982418	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Receptive language delay	Receptive language delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26043775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome, Atypical	Rett Syndrome	BEFREE	29961512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyolysis	Rhabdomyolysis	Pubtator	35725943	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	16053028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11423178, 14741323, 21512575, 29979496, 8435383, 8929760, 8942447, 9050131, 9516671		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	14741323, 21512575		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	27072799, 28747448, 30682224, 35305402, 37887313	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	18388176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Fiber Neuropathy	Small Fiber Neuropathy	BEFREE	16053028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	31394400	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Steroid-sensitive nephrotic syndrome	Steroid-Sensitive Nephrotic Syndrome	BEFREE	11956863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	23196741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Teratozoospermia	Teratozoospermia	Pubtator	29901159	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	12656131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ureterocele	Ureterocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	36980817	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	CLINGEN_DG	23993195, 25262651, 25966631, 26485252, 27072799, 27476654, 28202424, 28357411, 28503590, 28628939, 28747448, 29390993, 9050846		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	CLINVAR_DG	23993195, 25966631, 26060304, 27072799, 28202424, 28747448		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	BEFREE	25966631, 26485252, 30103967		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
SCN3A	4	["Developmental and epileptic encephalopathy","Developmental delay","Epilepsy","genetic developmental and epileptic encephalopathy"]	[]	10	["Orphanet (Developmental and epileptic encephalopathy)","Disgenet (Developmental and epileptic encephalopathy)","ClinGen (Developmental and epileptic encephalopathy)","HPO (Developmental and epileptic encephalopathy)","ClinVar (Developmental and epileptic encephalopathy)","GWAS catalog (Developmental and epileptic encephalopathy)","CTD (Developmental and epileptic encephalopathy)","Disgenet (Developmental delay)","Disgenet (Epilepsy)","ClinGen (genetic developmental and epileptic encephalopathy)"]
FRRS1L	3	["Chorea","Developmental and epileptic encephalopathy","genetic developmental and epileptic encephalopathy"]	[]	8	["Disgenet (Chorea)","Orphanet (Developmental and epileptic encephalopathy)","Disgenet (Developmental and epileptic encephalopathy)","ClinGen (Developmental and epileptic encephalopathy)","HPO (Developmental and epileptic encephalopathy)","ClinVar (Developmental and epileptic encephalopathy)","CTD (Developmental and epileptic encephalopathy)","ClinGen (genetic developmental and epileptic encephalopathy)"]
SLC25A22	3	["Developmental and epileptic encephalopathy","Developmental delay","genetic developmental and epileptic encephalopathy"]	[]	9	["Orphanet (Developmental and epileptic encephalopathy)","Disgenet (Developmental and epileptic encephalopathy)","ClinGen (Developmental and epileptic encephalopathy)","HPO (Developmental and epileptic encephalopathy)","ClinVar (Developmental and epileptic encephalopathy)","GWAS catalog (Developmental and epileptic encephalopathy)","CTD (Developmental and epileptic encephalopathy)","Disgenet (Developmental delay)","ClinGen (genetic developmental and epileptic encephalopathy)"]
NECAP1	2	["Developmental and epileptic encephalopathy","genetic developmental and epileptic encephalopathy"]	[]	8	["Orphanet (Developmental and epileptic encephalopathy)","Disgenet (Developmental and epileptic encephalopathy)","ClinGen (Developmental and epileptic encephalopathy)","HPO (Developmental and epileptic encephalopathy)","ClinVar (Developmental and epileptic encephalopathy)","GWAS catalog (Developmental and epileptic encephalopathy)","CTD (Developmental and epileptic encephalopathy)","ClinGen (genetic developmental and epileptic encephalopathy)"]
DNM1	3	["Developmental and epileptic encephalopathy","Epilepsy","genetic developmental and epileptic encephalopathy"]	[]	10	["Orphanet (Developmental and epileptic encephalopathy)","CTD (Neurodevelopmental disorder)","Disgenet (Developmental and epileptic encephalopathy)","ClinGen (Developmental and epileptic encephalopathy)","HPO (Developmental and epileptic encephalopathy)","ClinVar (Developmental and epileptic encephalopathy)","CTD (Developmental and epileptic encephalopathy)","CTD (Epilepsy)","Disgenet (Epilepsy)","ClinGen (genetic developmental and epileptic encephalopathy)"]

GNAO1 (G protein subunit alpha o1)

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