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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23370
Gene name	Rho/Rac guanine nucleotide exchange factor 18
Gene symbol	ARHGEF18
Synonyms (NCBI Gene)	P114-RhoGEFRP78SA-RhoGEFp114RhoGEF
Chromosome	19
Chromosome location	19p13.2
Summary	Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs767689418	G>C,T	Pathogenic	Missense variant, coding sequence variant, stop gained, genic downstream transcript variant
rs987233144	A>G	Pathogenic	Coding sequence variant, missense variant
rs1064793000	C>T	Pathogenic	Coding sequence variant, stop gained
rs1064793001	GGCTGGAGCAGGAGCGGGCCGAGC>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, inframe deletion
rs1064793002	G>A	Pathogenic	Intron variant

261

Show/Hide all (261)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002801	hsa-miR-1-3p	Microarray	15685193
MIRT002801	hsa-miR-1-3p	Microarray	18668037
MIRT002801	hsa-miR-1-3p	Microarray	15685193
MIRT030443	hsa-miR-24-3p	Microarray	19748357
MIRT046963	hsa-miR-221-3p	CLASH	23622248
MIRT705574	hsa-miR-9500	HITS-CLIP	23313552
MIRT705573	hsa-miR-4446-3p	HITS-CLIP	23313552
MIRT705572	hsa-miR-4329	HITS-CLIP	23313552
MIRT705571	hsa-miR-6857-3p	HITS-CLIP	23313552
MIRT705570	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT705569	hsa-miR-769-5p	HITS-CLIP	23313552
MIRT705568	hsa-miR-4632-3p	HITS-CLIP	23313552
MIRT705567	hsa-miR-3135a	HITS-CLIP	23313552
MIRT705566	hsa-miR-3202	HITS-CLIP	23313552
MIRT705565	hsa-miR-4747-5p	HITS-CLIP	23313552
MIRT705564	hsa-miR-5196-5p	HITS-CLIP	23313552
MIRT705563	hsa-miR-4675	HITS-CLIP	23313552
MIRT705562	hsa-miR-4741	HITS-CLIP	23313552
MIRT705561	hsa-miR-1469	HITS-CLIP	23313552
MIRT152371	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT152367	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT152371	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT152366	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT152379	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT152368	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT152388	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT152367	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT705574	hsa-miR-9500	HITS-CLIP	23313552
MIRT705573	hsa-miR-4446-3p	HITS-CLIP	23313552
MIRT705572	hsa-miR-4329	HITS-CLIP	23313552
MIRT705571	hsa-miR-6857-3p	HITS-CLIP	23313552
MIRT705570	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT705569	hsa-miR-769-5p	HITS-CLIP	23313552
MIRT705568	hsa-miR-4632-3p	HITS-CLIP	23313552
MIRT705567	hsa-miR-3135a	HITS-CLIP	23313552
MIRT705566	hsa-miR-3202	HITS-CLIP	23313552
MIRT705565	hsa-miR-4747-5p	HITS-CLIP	23313552
MIRT705564	hsa-miR-5196-5p	HITS-CLIP	23313552
MIRT705563	hsa-miR-4675	HITS-CLIP	23313552
MIRT705562	hsa-miR-4741	HITS-CLIP	23313552
MIRT705561	hsa-miR-1469	HITS-CLIP	23313552
MIRT795552	hsa-miR-106a	CLIP-seq
MIRT795553	hsa-miR-106b	CLIP-seq
MIRT795554	hsa-miR-1237	CLIP-seq
MIRT795555	hsa-miR-1248	CLIP-seq
MIRT795556	hsa-miR-141	CLIP-seq
MIRT795557	hsa-miR-17	CLIP-seq
MIRT795558	hsa-miR-200a	CLIP-seq
MIRT795559	hsa-miR-20a	CLIP-seq
MIRT795560	hsa-miR-20b	CLIP-seq
MIRT795561	hsa-miR-302a	CLIP-seq
MIRT795562	hsa-miR-302b	CLIP-seq
MIRT795563	hsa-miR-302c	CLIP-seq
MIRT795564	hsa-miR-302d	CLIP-seq
MIRT795565	hsa-miR-302e	CLIP-seq
MIRT795566	hsa-miR-3182	CLIP-seq
MIRT795567	hsa-miR-3184	CLIP-seq
MIRT795568	hsa-miR-330-3p	CLIP-seq
MIRT795569	hsa-miR-3607-3p	CLIP-seq
MIRT795570	hsa-miR-3609	CLIP-seq
MIRT795571	hsa-miR-3677-5p	CLIP-seq
MIRT795572	hsa-miR-3682-3p	CLIP-seq
MIRT795573	hsa-miR-3686	CLIP-seq
MIRT795574	hsa-miR-371-5p	CLIP-seq
MIRT795575	hsa-miR-371b-5p	CLIP-seq
MIRT795576	hsa-miR-372	CLIP-seq
MIRT795577	hsa-miR-373	CLIP-seq
MIRT795578	hsa-miR-3944-3p	CLIP-seq
MIRT795579	hsa-miR-3944-5p	CLIP-seq
MIRT795580	hsa-miR-423-5p	CLIP-seq
MIRT795581	hsa-miR-4433	CLIP-seq
MIRT795582	hsa-miR-4448	CLIP-seq
MIRT795583	hsa-miR-4502	CLIP-seq
MIRT795584	hsa-miR-4660	CLIP-seq
MIRT795585	hsa-miR-4688	CLIP-seq
MIRT795586	hsa-miR-4796-3p	CLIP-seq
MIRT795587	hsa-miR-4797-3p	CLIP-seq
MIRT795588	hsa-miR-510	CLIP-seq
MIRT795589	hsa-miR-512-5p	CLIP-seq
MIRT795590	hsa-miR-513c	CLIP-seq
MIRT795591	hsa-miR-514b-5p	CLIP-seq
MIRT795592	hsa-miR-519d	CLIP-seq
MIRT795593	hsa-miR-520a-3p	CLIP-seq
MIRT795594	hsa-miR-520b	CLIP-seq
MIRT795595	hsa-miR-520c-3p	CLIP-seq
MIRT795596	hsa-miR-520d-3p	CLIP-seq
MIRT795597	hsa-miR-520e	CLIP-seq
MIRT795598	hsa-miR-548ah	CLIP-seq
MIRT795599	hsa-miR-662	CLIP-seq
MIRT795600	hsa-miR-665	CLIP-seq
MIRT795601	hsa-miR-93	CLIP-seq
MIRT795602	hsa-miR-1	CLIP-seq
MIRT795552	hsa-miR-106a	CLIP-seq
MIRT795553	hsa-miR-106b	CLIP-seq
MIRT795557	hsa-miR-17	CLIP-seq
MIRT795603	hsa-miR-206	CLIP-seq
MIRT795559	hsa-miR-20a	CLIP-seq
MIRT795560	hsa-miR-20b	CLIP-seq
MIRT795561	hsa-miR-302a	CLIP-seq
MIRT795562	hsa-miR-302b	CLIP-seq
MIRT795563	hsa-miR-302c	CLIP-seq
MIRT795564	hsa-miR-302d	CLIP-seq
MIRT795565	hsa-miR-302e	CLIP-seq
MIRT795566	hsa-miR-3182	CLIP-seq
MIRT795569	hsa-miR-3607-3p	CLIP-seq
MIRT795570	hsa-miR-3609	CLIP-seq
MIRT795573	hsa-miR-3686	CLIP-seq
MIRT795576	hsa-miR-372	CLIP-seq
MIRT795577	hsa-miR-373	CLIP-seq
MIRT795604	hsa-miR-412	CLIP-seq
MIRT795605	hsa-miR-4773	CLIP-seq
MIRT795586	hsa-miR-4796-3p	CLIP-seq
MIRT795587	hsa-miR-4797-3p	CLIP-seq
MIRT795588	hsa-miR-510	CLIP-seq
MIRT795589	hsa-miR-512-5p	CLIP-seq
MIRT795606	hsa-miR-513b	CLIP-seq
MIRT795592	hsa-miR-519d	CLIP-seq
MIRT795593	hsa-miR-520a-3p	CLIP-seq
MIRT795594	hsa-miR-520b	CLIP-seq
MIRT795595	hsa-miR-520c-3p	CLIP-seq
MIRT795596	hsa-miR-520d-3p	CLIP-seq
MIRT795597	hsa-miR-520e	CLIP-seq
MIRT795598	hsa-miR-548ah	CLIP-seq
MIRT795607	hsa-miR-613	CLIP-seq
MIRT795601	hsa-miR-93	CLIP-seq
MIRT795602	hsa-miR-1	CLIP-seq
MIRT795552	hsa-miR-106a	CLIP-seq
MIRT795553	hsa-miR-106b	CLIP-seq
MIRT1934950	hsa-miR-1251	CLIP-seq
MIRT1934951	hsa-miR-1291	CLIP-seq
MIRT1934952	hsa-miR-1292	CLIP-seq
MIRT1934953	hsa-miR-1302	CLIP-seq
MIRT1934954	hsa-miR-1324	CLIP-seq
MIRT1934955	hsa-miR-146b-3p	CLIP-seq
MIRT795557	hsa-miR-17	CLIP-seq
MIRT1934956	hsa-miR-1973	CLIP-seq
MIRT795603	hsa-miR-206	CLIP-seq
MIRT795559	hsa-miR-20a	CLIP-seq
MIRT795560	hsa-miR-20b	CLIP-seq
MIRT1934957	hsa-miR-2117	CLIP-seq
MIRT1934958	hsa-miR-2467-3p	CLIP-seq
MIRT795561	hsa-miR-302a	CLIP-seq
MIRT795562	hsa-miR-302b	CLIP-seq
MIRT795563	hsa-miR-302c	CLIP-seq
MIRT795564	hsa-miR-302d	CLIP-seq
MIRT795565	hsa-miR-302e	CLIP-seq
MIRT1934959	hsa-miR-3168	CLIP-seq
MIRT1934960	hsa-miR-3173-5p	CLIP-seq
MIRT795566	hsa-miR-3182	CLIP-seq
MIRT1934961	hsa-miR-324-5p	CLIP-seq
MIRT1934962	hsa-miR-328	CLIP-seq
MIRT1934963	hsa-miR-3605-3p	CLIP-seq
MIRT795569	hsa-miR-3607-3p	CLIP-seq
MIRT795570	hsa-miR-3609	CLIP-seq
MIRT1934964	hsa-miR-3678-3p	CLIP-seq
MIRT795573	hsa-miR-3686	CLIP-seq
MIRT795576	hsa-miR-372	CLIP-seq
MIRT795577	hsa-miR-373	CLIP-seq
MIRT1934965	hsa-miR-3909	CLIP-seq
MIRT1934966	hsa-miR-3942-3p	CLIP-seq
MIRT1934967	hsa-miR-4286	CLIP-seq
MIRT1934968	hsa-miR-4292	CLIP-seq
MIRT1934969	hsa-miR-4298	CLIP-seq
MIRT1934970	hsa-miR-4434	CLIP-seq
MIRT1934971	hsa-miR-4471	CLIP-seq
MIRT1934972	hsa-miR-4516	CLIP-seq
MIRT1934973	hsa-miR-4646-5p	CLIP-seq
MIRT1934974	hsa-miR-4677-3p	CLIP-seq
MIRT1934975	hsa-miR-4679	CLIP-seq
MIRT1934976	hsa-miR-4685-5p	CLIP-seq
MIRT1934977	hsa-miR-4717-3p	CLIP-seq
MIRT795586	hsa-miR-4796-3p	CLIP-seq
MIRT795587	hsa-miR-4797-3p	CLIP-seq
MIRT795588	hsa-miR-510	CLIP-seq
MIRT795589	hsa-miR-512-5p	CLIP-seq
MIRT795592	hsa-miR-519d	CLIP-seq
MIRT795593	hsa-miR-520a-3p	CLIP-seq
MIRT795594	hsa-miR-520b	CLIP-seq
MIRT795595	hsa-miR-520c-3p	CLIP-seq
MIRT795596	hsa-miR-520d-3p	CLIP-seq
MIRT795597	hsa-miR-520e	CLIP-seq
MIRT795598	hsa-miR-548ah	CLIP-seq
MIRT795607	hsa-miR-613	CLIP-seq
MIRT1934978	hsa-miR-622	CLIP-seq
MIRT1934979	hsa-miR-652	CLIP-seq
MIRT1934980	hsa-miR-874	CLIP-seq
MIRT795601	hsa-miR-93	CLIP-seq
MIRT795602	hsa-miR-1	CLIP-seq
MIRT795552	hsa-miR-106a	CLIP-seq
MIRT795553	hsa-miR-106b	CLIP-seq
MIRT2174754	hsa-miR-1285	CLIP-seq
MIRT795557	hsa-miR-17	CLIP-seq
MIRT795603	hsa-miR-206	CLIP-seq
MIRT795559	hsa-miR-20a	CLIP-seq
MIRT795560	hsa-miR-20b	CLIP-seq
MIRT2174755	hsa-miR-219-1-3p	CLIP-seq
MIRT795561	hsa-miR-302a	CLIP-seq
MIRT795562	hsa-miR-302b	CLIP-seq
MIRT795563	hsa-miR-302c	CLIP-seq
MIRT795564	hsa-miR-302d	CLIP-seq
MIRT795565	hsa-miR-302e	CLIP-seq
MIRT2174756	hsa-miR-3064-5p	CLIP-seq
MIRT795566	hsa-miR-3182	CLIP-seq
MIRT2174757	hsa-miR-3187-5p	CLIP-seq
MIRT795569	hsa-miR-3607-3p	CLIP-seq
MIRT795570	hsa-miR-3609	CLIP-seq
MIRT795573	hsa-miR-3686	CLIP-seq
MIRT795576	hsa-miR-372	CLIP-seq
MIRT795577	hsa-miR-373	CLIP-seq
MIRT795586	hsa-miR-4796-3p	CLIP-seq
MIRT795592	hsa-miR-519d	CLIP-seq
MIRT795593	hsa-miR-520a-3p	CLIP-seq
MIRT795594	hsa-miR-520b	CLIP-seq
MIRT795595	hsa-miR-520c-3p	CLIP-seq
MIRT795596	hsa-miR-520d-3p	CLIP-seq
MIRT795597	hsa-miR-520e	CLIP-seq
MIRT795598	hsa-miR-548ah	CLIP-seq
MIRT2174758	hsa-miR-612	CLIP-seq
MIRT795607	hsa-miR-613	CLIP-seq
MIRT795601	hsa-miR-93	CLIP-seq
MIRT795602	hsa-miR-1	CLIP-seq
MIRT795603	hsa-miR-206	CLIP-seq
MIRT1934959	hsa-miR-3168	CLIP-seq
MIRT795607	hsa-miR-613	CLIP-seq
MIRT1934968	hsa-miR-4292	CLIP-seq
MIRT2384436	hsa-miR-4725-5p	CLIP-seq
MIRT2384437	hsa-miR-504	CLIP-seq
MIRT2443940	hsa-miR-3124-3p	CLIP-seq
MIRT2443941	hsa-miR-502-5p	CLIP-seq
MIRT2443942	hsa-miR-627	CLIP-seq
MIRT795602	hsa-miR-1	CLIP-seq
MIRT2478144	hsa-miR-1204	CLIP-seq
MIRT2478145	hsa-miR-1208	CLIP-seq
MIRT2478146	hsa-miR-1224-3p	CLIP-seq
MIRT2478147	hsa-miR-1260	CLIP-seq
MIRT2478148	hsa-miR-1260b	CLIP-seq
MIRT2478149	hsa-miR-1280	CLIP-seq
MIRT2478150	hsa-miR-188-3p	CLIP-seq
MIRT2478151	hsa-miR-1908	CLIP-seq
MIRT795603	hsa-miR-206	CLIP-seq
MIRT2478152	hsa-miR-3064-3p	CLIP-seq
MIRT2478153	hsa-miR-3156-3p	CLIP-seq
MIRT2478154	hsa-miR-3191	CLIP-seq
MIRT2478155	hsa-miR-339-5p	CLIP-seq
MIRT2478156	hsa-miR-4420	CLIP-seq
MIRT2478157	hsa-miR-4706	CLIP-seq
MIRT1934977	hsa-miR-4717-3p	CLIP-seq
MIRT2478158	hsa-miR-4727-5p	CLIP-seq
MIRT2478159	hsa-miR-4742-3p	CLIP-seq
MIRT2478160	hsa-miR-4749-5p	CLIP-seq
MIRT2478161	hsa-miR-4769-3p	CLIP-seq
MIRT795607	hsa-miR-613	CLIP-seq
MIRT2478162	hsa-miR-663	CLIP-seq
MIRT795602	hsa-miR-1	CLIP-seq
MIRT2478145	hsa-miR-1208	CLIP-seq
MIRT795603	hsa-miR-206	CLIP-seq
MIRT2478155	hsa-miR-339-5p	CLIP-seq
MIRT2478156	hsa-miR-4420	CLIP-seq
MIRT2478159	hsa-miR-4742-3p	CLIP-seq
MIRT795607	hsa-miR-613	CLIP-seq
MIRT2675308	hsa-miR-630	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	14512443
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005515	Function	Protein binding	IPI	25753039, 35271311
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0007264	Process	Small GTPase-mediated signal transduction	IDA	14512443
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008360	Process	Regulation of cell shape	IDA	14512443
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0030036	Process	Actin cytoskeleton organization	IDA	14512443
GO:0030054	Component	Cell junction	TAS
GO:0035023	Process	Regulation of Rho protein signal transduction	IBA
GO:0045177	Component	Apical part of cell	IDA	22006950
GO:0046872	Function	Metal ion binding	IEA
GO:0051497	Process	Negative regulation of stress fiber assembly	IMP	25753039
GO:0070062	Component	Extracellular exosome	HDA	18570454
GO:0150105	Process	Protein localization to cell-cell junction	IMP	25753039

MIM	HGNC	e!Ensembl
616432	17090	ENSG00000104880

Q6ZSZ5

Protein name

Rho guanine nucleotide exchange factor 18 (114 kDa Rho-specific guanine nucleotide exchange factor) (p114-Rho-GEF) (p114RhoGEF) (Septin-associated RhoGEF) (SA-RhoGEF)

Protein function

Acts as a guanine nucleotide exchange factor (GEF) for RhoA GTPases. Its activation induces formation of actin stress fibers. Also acts as a GEF for RAC1, inducing production of reactive oxygen species (ROS). Does not act as a GEF for CDC42. The

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00621	RhoGEF	451 → 642	RhoGEF domain	Domain
PF17838	PH_16	669 → 786	PH domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in all tissues tested with highest expression in kidney and pancreas. Weakly or not expressed in liver, skeletal muscle and testis. Isoform 1: Expressed in eosinophils (PubMed:29601110). Isoform 2: Expressed in eosinophils (P

Sequence

MGDDQEDDFPRRLSESMEDLSLDLGALQGSEYLQDLGLGAPSHSQPGETPDSRPTGEEPG
RDSLFSSLAGSQDLSRRRSWERSRSCSESWRRLSLDASAVDEEPCLPRTLASLALNLPGG
GLKTWTQGCLSGGGTPAESPGKECDSPKKRGRSRSVPVSFYEIRSPEISPGLEVPTPPVQ
GLEPPVLECMEKDHVEPDHVLIVQQVLQELRQYHGARQRACMSASPGGAHSNLTWFEFLS
ESEDGAGKNEKSDKSTSVKRRLSCLRSRVTRQKEKGKSPAHLKDKGQDARERRECVNGHQ
LLQGTFSGPSSCPLCGKPFLSSASLKEHPRGTLLSDGSPALSRNVGMTVSQKGGPQPTPS
PAGPGTQLGPITGEMDEADSAFLKFKQTADDSLSLTSPNTESIFVEDPYTASLRSEIESD
GHEFEAESWSLAVDAAYAKKQKREVVKRQDVLYELMQTEVHHVRTLKIMLKVYSRALQEE
LQFSSKAIGRLFPCADDLLETHSHFLARLKERRQESLEEGSDRNYVIQKIGDLLVQQFSG
ENGERMKEKYGVFCSGHNEAVSHYKLLLQQNKKFQNLIKKIGNFSIVRRLGVQECILLVT
QRITKYPVLVERIIQNTEAGTEDYEDLTQALNLIKDIISQVDAKVSECEKGQRLREIAGK
MDLKSSSKLKNGLTFRKEDMLQRQLHLEGMLCWKTTSGRLKDILAILLTDVLLLLQEKDQ
KYVFASVDSKPPVISLQKLIVREVANEEKAMFLISASLQGPEMYEIYTSSKEDRNAWMAH
IQRAVESCPDEEEGPFSLPEEERKVVEARATRLRDFQERLSMKDQLIAQSLLEKQQIYLE
MAEMGGLEDLPQPRGLFRGGDPSETLQGELILKSAMSEIEGIQSLICRQLGSANGQAEDG
GSSTGPPRRAETFAGYDCTNSPTKNGSFKKKVSSTDPRPRDWRGPPNSPDLKLSDSDIPG
SSEESPQVVEAPGTESDPRLPTVLESELVQRIQTLSQLLLNLQAVIAHQDSYVETQRAAI
QEREKQFRLQSTRGNLLLEQERQRNFEKQREERAALEKLQSQLRHEQQRWERERQWQHQE
LERAGARLQEREGEARQLRERLEQERAELERQRQAYQHDLERLREAQRAVERERERLELL
RRLKKQNTAPGALPPDTLAEAQPPSHPPSFNGEGLEGPRVSMLPSGVGPEYAERPEVARR
DSAPTENRLAKSDVPIQLLSATNQFQRQAAVQQQIPTKLAASTKGGKDKGGKSRGSQRWE
SSASFDLKQQLLLNKLMGKDESTSRNRRSLSPILPGRHSPAPPPDPGFPAPSPPPADSPS
EGFSLKAGGTALLPGPPAPSPLPATPLSAKEDASKEDVIFF

Sequence length

1361

Interactions

View interactions

	KEGG		Reactome
	Tight junction		NRAGE signals death through JNK Rho GTPase cycle TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) G alpha (12/13) signalling events

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Retinal dystrophy	Likely pathogenic	rs201797784	RCV004815391	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa 78	Likely pathogenic; Pathogenic	rs201797784, rs987233144, rs1064793000, rs1064793001, rs767689418, rs1064793002	RCV001332877 RCV000477721 RCV000477673 RCV000477691 RCV000477725 RCV000477671 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (22)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARHGEF18-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive retinitis pigmentosa	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OROFACIAL CLEFT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (29)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23512329	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	34024335	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	30405854	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	30405854	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23512329	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Edema, Cystoid	Cystoid macular edema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	20810787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	30405854	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	ORPHANET_DG	28132693		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 78	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG	28132693		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 78	Retinitis Pigmentosa	UNIPROT_DG	28132693		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 78	Retinitis Pigmentosa	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 78	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

ARHGEF18 (Rho/Rac guanine nucleotide exchange factor 18)