Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	22999
Gene name	Regulating synaptic membrane exocytosis 1
Gene symbol	RIMS1
Synonyms (NCBI Gene)	CORD7RAB3IP2RIMRIM1
Chromosome	6
Chromosome location	6q13
Summary	The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have sugge

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121918302	G>A,T	Pathogenic	Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs192179523	A>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, synonymous variant, genic downstream transcript variant
rs200005095	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, intron variant, missense variant
rs201473375	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant, genic downstream transcript variant
rs201556693	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs1057519205	G>A	Likely-pathogenic	Intron variant, genic downstream transcript variant, genic upstream transcript variant, splice donor variant
rs1590681805	T>C	Likely-pathogenic	Genic upstream transcript variant, genic downstream transcript variant, splice donor variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT755560	hsa-miR-122-5p	Luciferase reporter assay	38144299
MIRT1306949	hsa-miR-3189-3p	CLIP-seq
MIRT1306950	hsa-miR-3668	CLIP-seq
MIRT1306951	hsa-miR-3924	CLIP-seq
MIRT1306952	hsa-miR-412	CLIP-seq
MIRT1306953	hsa-miR-425	CLIP-seq
MIRT1306954	hsa-miR-502-5p	CLIP-seq
MIRT1306955	hsa-miR-642b	CLIP-seq
MIRT1306956	hsa-miR-140-3p	CLIP-seq
MIRT1306957	hsa-miR-1912	CLIP-seq
MIRT1306958	hsa-miR-197	CLIP-seq
MIRT1306959	hsa-miR-298	CLIP-seq
MIRT1306960	hsa-miR-31	CLIP-seq
MIRT1306961	hsa-miR-3126-3p	CLIP-seq
MIRT1306962	hsa-miR-3128	CLIP-seq
MIRT1306963	hsa-miR-33a	CLIP-seq
MIRT1306964	hsa-miR-33b	CLIP-seq
MIRT1306965	hsa-miR-3617	CLIP-seq
MIRT1306966	hsa-miR-3688-3p	CLIP-seq
MIRT1306967	hsa-miR-376c	CLIP-seq
MIRT1306968	hsa-miR-3944-5p	CLIP-seq
MIRT1306953	hsa-miR-425	CLIP-seq
MIRT1306969	hsa-miR-4499	CLIP-seq
MIRT1306970	hsa-miR-4527	CLIP-seq
MIRT1306971	hsa-miR-4662a-3p	CLIP-seq
MIRT1306972	hsa-miR-4696	CLIP-seq
MIRT1306973	hsa-miR-4720-5p	CLIP-seq
MIRT1306974	hsa-miR-4799-3p	CLIP-seq
MIRT1306975	hsa-miR-5096	CLIP-seq
MIRT1306976	hsa-miR-548c-3p	CLIP-seq
MIRT1306977	hsa-miR-641	CLIP-seq
MIRT1306955	hsa-miR-642b	CLIP-seq
MIRT2315749	hsa-miR-15a	CLIP-seq
MIRT2315750	hsa-miR-15b	CLIP-seq
MIRT2315751	hsa-miR-16	CLIP-seq
MIRT2315752	hsa-miR-181a	CLIP-seq
MIRT2315753	hsa-miR-181b	CLIP-seq
MIRT2315754	hsa-miR-181c	CLIP-seq
MIRT2315755	hsa-miR-181d	CLIP-seq
MIRT2315756	hsa-miR-195	CLIP-seq
MIRT2315757	hsa-miR-424	CLIP-seq
MIRT2315758	hsa-miR-4262	CLIP-seq
MIRT2315759	hsa-miR-4457	CLIP-seq
MIRT2315760	hsa-miR-497	CLIP-seq
MIRT2315761	hsa-miR-513b	CLIP-seq
MIRT2315762	hsa-miR-922	CLIP-seq
MIRT2458242	hsa-miR-1264	CLIP-seq
MIRT2458243	hsa-miR-548n	CLIP-seq
MIRT2458244	hsa-miR-548t	CLIP-seq
MIRT2458245	hsa-miR-617	CLIP-seq
MIRT2458242	hsa-miR-1264	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	11438518, 17474147, 37207277
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006887	Process	Exocytosis	IEA
GO:0007601	Process	Visual perception	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0016020	Component	Membrane	IEA
GO:0016079	Process	Synaptic vesicle exocytosis	TAS	11438518
GO:0016081	Process	Synaptic vesicle docking	IBA
GO:0016082	Process	Synaptic vesicle priming	IBA
GO:0017156	Process	Calcium-ion regulated exocytosis	TAS	11438518
GO:0030154	Process	Cell differentiation	IEA
GO:0030695	Function	GTPase regulator activity	TAS	11438518
GO:0031267	Function	Small GTPase binding	IEA
GO:0031267	Function	Small GTPase binding	ISS
GO:0042734	Component	Presynaptic membrane	IBA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042734	Component	Presynaptic membrane	ISS
GO:0042734	Component	Presynaptic membrane	NAS	11438518
GO:0042995	Component	Cell projection	IEA
GO:0045055	Process	Regulated exocytosis	NAS	11438518
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046903	Process	Secretion	NAS	11438518
GO:0046928	Process	Regulation of neurotransmitter secretion	TAS	15217342
GO:0048786	Component	Presynaptic active zone	IEA
GO:0048786	Component	Presynaptic active zone	TAS	15217342
GO:0048790	Process	Maintenance of presynaptic active zone structure	IEA
GO:0060478	Process	Acrosomal vesicle exocytosis	IDA	22248876
GO:0061025	Process	Membrane fusion	NAS	11438518
GO:0065003	Process	Protein-containing complex assembly	IDA	11438518
GO:0097151	Process	Positive regulation of inhibitory postsynaptic potential	ISS
GO:0098831	Component	Presynaptic active zone cytoplasmic component	IBA
GO:0098882	Function	Structural constituent of presynaptic active zone	IBA
GO:1903861	Process	Positive regulation of dendrite extension	IDA	23999003
GO:1903861	Process	Positive regulation of dendrite extension	IEA
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IBA
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	ISS

MIM	HGNC	e!Ensembl
606629	17282	ENSG00000079841

Q86UR5

Protein name

Regulating synaptic membrane exocytosis protein 1 (Rab-3-interacting molecule 1) (RIM 1) (Rab-3-interacting protein 2)

Protein function

Rab effector involved in exocytosis (By similarity). May act as scaffold protein that regulates neurotransmitter release at the active zone. Essential for maintaining normal probability of neurotransmitter release and for regulating release duri

PDB

2CSS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00168	C2	757 → 867	C2 domain	Domain
PF00168	C2	1551 → 1658	C2 domain	Domain
PF00595	PDZ	605 → 689	PDZ domain	Domain
PF02318	FYVE_2	81 → 182	FYVE-type zinc finger	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in melanocytes (PubMed:23999003). Detected in brain and retina (PubMed:23999003). {ECO:0000269|PubMed:23999003}.

Sequence

MSSAVGPRGPRPPTVPPPMQELPDLSHLTEEERNIIMAVMDRQKEEEEKEEAMLKCVVRD
MAKPAACKTPRNAENQPHQPSPRLHQQFESYKEQVRKIGEEARRYQGEHKDDAPTCGICH
KTKFADGCGHLCSYCRTKFCARCGGRVSLRSNNEDKVVMWVCNLCRKQQEILTKSGAWFF
GSGPQQTSQDGTLSDTATGAGSEVPREKKARLQERSRSQTPLSTAAASSQDAAPPSAPPD
RSKGAEPSQQALGPEQKQASSRSRSEPPRERKKTPGLSEQNGKGALKSERKRVPKTSAQP
VEGAVEERERKERRESRRLEKGRSQDYPDTPEKRDEGKAADEEKQRKEEDYQTRYRSDPN
LARYPVKPPPEEQQMRMHARVSRARHERRHSDVALPRTEAGAALPEGKAGKRAPAAARAS
PPDSPRAYSAERTAETRAPGAKQLTNHSPPAPRHGPVPAEAPELKAQEPLRKQSRLDPSS
AVLMRKAKREKVETMLRNDSLSSDQSESVRPSPPKPHRSKRGGKKRQMSVSSSEEEGVST
PEYTSCEDVELESESVSEKGDLDYYWLDPATWHSRETSPISSHPVTWQPSKEGDRLIGRV
ILNKRTTMPKDSGALLGLKVVGGKMTDLGRLGAFITKVKKGSLADVVGHLRAGDEVLEWN
GKPLPGATNEEVYNIILESKSEPQVEIIVSRPIGDIPRIPESSHPPLESSSSSFESQKME
RPSISVISPTSPGALKDAPQVLPGQLSVKLWYDKVGHQLIVNVLQATDLPARVDGRPRNP
YVKMYFLPDRSDKSKRRTKTVKKILEPKWNQTFVYSHVHRRDFRERMLEITVWDQPRVQE
EESEFLGEILIELETALLDDEPHWYKLQTHDESSLPLPQPSPFMPRRHIHGESSSKKLQR
SQRISDSDISDYEVDDGIGVVPPVGYRSSARESKSTTLTVPEQQRTTHHRSRSVSPHRGN
DQGKPRSRLPNVPLQRSLDEIHPTRRSRSPTRHHDASRSPVDHRTRDVDSQYLSEQDSEL
LMLPRAKRGRSAECLHTTRHLVRHYKTLPPKMPLLQSSSHWNIYSSILPAHTKTKSVTRQ
DISLHHECFNSTVLRFTDEILVSELQPFLDRARSASTNCLRPDTSLHSPERERGRWSPSL
DRRRPPSPRIQIQHASPENDRHSRKSERSSIQKQTRKGTASDAERVLPTCLSRRGHAAPR
ATDQPVIRGKHPARSRSSEHSSIRTLCSMHHLVPGGSAPPSPLLTRMHRQRSPTQSPPAD
TSFSSRRGRQLPQVPVRSGSIEQASLVVEERTRQMKMKVHRFKQTTGSGSSQELDREQYS
KYNIHKDQYRSCDNVSAKSSDSDVSDVSAISRTSSASRLSSTSFMSEQSERPRGRISSFT
PKMQGRRMGTSGRSIMKSTSVSGEMYTLEHNDGSQSDTAVGTVGAGGKKRRSSLSAKVVA
IVSRRSRSTSQLSQTESGHKKLKSTIQRSTETGMAAEMRKMVRQPSRESTDGSINSYSSE
GNLIFPGVRLGADSQFSDFLDGLGPAQLVGRQTLATPAMGDIQIGMEDKKGQLEVEVIRA
RSLTQKPGSKSTPAPYVKVYLLENGACIAKKKTRIARKTLDPLYQQSLVFDESPQGKVLQ
VIVWGDYGRMDHKCFMGVAQILLEELDLSSMVIGWYKLFPPSSLVDPTLTPLTRRASQSS
LESSTGPPCIRS

Sequence length

1692

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Synaptic vesicle cycle	Serotonin Neurotransmitter Release Cycle
Retrograde endocannabinoid signaling	Norepinephrine Neurotransmitter Release Cycle
	Glutamate Neurotransmitter Release Cycle
	Dopamine Neurotransmitter Release Cycle
	Acetylcholine Neurotransmitter Release Cycle
	GABA synthesis, release, reuptake and degradation

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
Autism spectrum disorder	Likely pathogenic	rs560702162	RCV003128056	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy 7	Likely pathogenic	rs1590681805	RCV001028030	★★★★★ ★★★★☆ 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 (45)
ALZHEIMER DISEASE	—	GWAS catalog	35589863, 40708016	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMENORRHEA	—	GWAS catalog	31371054	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGIOEDEMA	—	GWAS catalog	24236485	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	31835028	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	31835028	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	25961944	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	31043756, 31835028	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE ROD DYSTROPHY	—	Orphanet	12659814	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHY	—	GWAS catalog	12659814	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy, Dominant	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASE	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	39046104, 40708016	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	35835914	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leber congenital amaurosis	Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT syndrome	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG ADENOCARCINOMA	—	GWAS catalog	28604730	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	28604730	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	28604730	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	31835028	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENIERE DISEASE	—	GWAS catalog	34594039	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	34294844	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	28191889	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	31835028	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ornithine aminotransferase deficiency	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	31701892, 38155330	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	27082954	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	38469033	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIMS1-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	25056061, 26198764, 28540026, 28991256, 29483656, 30285260, 31268507, 31835028, 33479212, 34159505, 35396580, 39753749	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	28604730	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	28604730	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	31835028	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URTICARIA	—	GWAS catalog	24236485	★★★★★ ★★☆☆☆ 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 (37)
Astrocytoma	Astrocytoma	Pubtator	37169070	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophoderma maculatum	Anetoderma	BEFREE	10634627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	25284784	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30949922		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	25961944, 29904178	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	25961944		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	26142343		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	CTD_human_DG	31043756		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	31043756		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone rod dystrophy	Cone-rod dystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	12659814, 15665353, 17237123, 17962389		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy 2	Cone-rod dystrophy	ORPHANET_DG	12659814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	12659814, 15665353, 17237123, 17962389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 7	Cone-rod dystrophy	BEFREE	10634627, 12659814, 15665353, 27176872		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-Rod Dystrophy 7	Cone-rod dystrophy	UNIPROT_DG	12659814		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-Rod Dystrophy 7	Cone-rod dystrophy	GENOMICS_ENGLAND_DG	28677725		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-Rod Dystrophy 7	Cone-rod dystrophy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-Rod Dystrophy 7	Cone-rod dystrophy	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Depression, Bipolar	Bipolar Disorder	CTD_human_DG	31043756		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	29904178	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG	28677725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	28734530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	35947379	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Edema, Cystoid	Cystoid macular edema	BEFREE	27176872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	CTD_human_DG	31043756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Manic Disorder	Manic Disorder	CTD_human_DG	31043756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	30402980	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18604545, 23211293, 30944782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	15746564, 17237123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	15746564, 27176872		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	15746564		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	12659814, 15665353, 17237123, 17962389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30702489	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	28011674	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
CPLX1	1	["Bipolar depression"]	7	["Synaptic vesicle cycle","Serotonin Neurotransmitter Release Cycle","Norepinephrine Neurotransmitter Release Cycle","Glutamate Neurotransmitter Release Cycle","Dopamine Neurotransmitter Release Cycle","Acetylcholine Neurotransmitter Release Cycle","GABA synthesis, release, reuptake and degradation"]	2	["CTD (Bipolar disorder)","Disgenet (Bipolar depression)"]
ITIH3	4	["Anorexia nervosa","Tourette syndrome","Obsessive-compulsive disorder","Psychiatric disorders"]	0	[]	4	["GWAS catalog (Anorexia nervosa)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Psychiatric disorders)","GWAS catalog (Tourette syndrome)"]
STXBP1	0	[]	7	["Synaptic vesicle cycle","Serotonin Neurotransmitter Release Cycle","Norepinephrine Neurotransmitter Release Cycle","Glutamate Neurotransmitter Release Cycle","Dopamine Neurotransmitter Release Cycle","Acetylcholine Neurotransmitter Release Cycle","GABA synthesis, release, reuptake and degradation"]	1	["CTD (Neurodevelopmental disorder)"]
SRPK2	4	["Anorexia nervosa","Bipolar depression","Tourette syndrome","Obsessive-compulsive disorder"]	0	[]	5	["GWAS catalog (Anorexia nervosa)","CTD (Bipolar disorder)","Disgenet (Bipolar depression)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Tourette syndrome)"]
SNAP25	2	["Bipolar depression","Psychiatric disorders"]	7	["Synaptic vesicle cycle","Serotonin Neurotransmitter Release Cycle","Norepinephrine Neurotransmitter Release Cycle","Glutamate Neurotransmitter Release Cycle","Dopamine Neurotransmitter Release Cycle","Acetylcholine Neurotransmitter Release Cycle","GABA synthesis, release, reuptake and degradation"]	4	["CTD (Bipolar disorder)","CTD (Neurodevelopmental disorder)","Disgenet (Bipolar depression)","GWAS catalog (Psychiatric disorders)"]

RIMS1 (regulating synaptic membrane exocytosis 1)

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