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	9181
Gene name	Rho/Rac guanine nucleotide exchange factor 2
Gene symbol	ARHGEF2
Synonyms (NCBI Gene)	GEFGEF-H1GEFH1LFP40LfcNEDMHMP40
Chromosome	1
Chromosome location	1q22
Summary	Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alterna

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1114167454	C>-	Pathogenic	Splice donor variant, coding sequence variant

Show/Hide all (75)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018030	hsa-miR-335-5p	Microarray	18185580
MIRT027914	hsa-miR-96-5p	Sequencing	20371350
MIRT044440	hsa-miR-320a	CLASH	23622248
MIRT044440	hsa-miR-320a	CLASH	23622248
MIRT042542	hsa-miR-423-3p	CLASH	23622248
MIRT037439	hsa-miR-744-5p	CLASH	23622248
MIRT037159	hsa-miR-877-3p	CLASH	23622248
MIRT456328	hsa-miR-4475	PAR-CLIP	23592263
MIRT456327	hsa-miR-942-3p	PAR-CLIP	23592263
MIRT456326	hsa-miR-7845-5p	PAR-CLIP	23592263
MIRT456325	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT456324	hsa-miR-4784	PAR-CLIP	23592263
MIRT456323	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT456322	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT456321	hsa-miR-1914-3p	PAR-CLIP	23592263
MIRT456320	hsa-miR-5194	PAR-CLIP	23592263
MIRT456319	hsa-miR-6738-5p	PAR-CLIP	23592263
MIRT456318	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT456317	hsa-miR-6086	PAR-CLIP	23592263
MIRT456316	hsa-miR-3173-5p	PAR-CLIP	23592263
MIRT456315	hsa-miR-6799-3p	PAR-CLIP	23592263
MIRT456314	hsa-miR-1291	PAR-CLIP	23592263
MIRT456313	hsa-miR-6775-3p	PAR-CLIP	23592263
MIRT456312	hsa-miR-6851-3p	PAR-CLIP	23592263
MIRT456311	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT456310	hsa-miR-8085	PAR-CLIP	23592263
MIRT456309	hsa-miR-3175	PAR-CLIP	23592263
MIRT456308	hsa-miR-6834-5p	PAR-CLIP	23592263
MIRT456307	hsa-miR-1226-5p	PAR-CLIP	23592263
MIRT456306	hsa-miR-6734-5p	PAR-CLIP	23592263
MIRT456305	hsa-miR-328-3p	PAR-CLIP	23592263
MIRT456304	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT456328	hsa-miR-4475	PAR-CLIP	23592263
MIRT456327	hsa-miR-942-3p	PAR-CLIP	23592263
MIRT456326	hsa-miR-7845-5p	PAR-CLIP	23592263
MIRT456325	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT456324	hsa-miR-4784	PAR-CLIP	23592263
MIRT456323	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT456322	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT456321	hsa-miR-1914-3p	PAR-CLIP	23592263
MIRT456320	hsa-miR-5194	PAR-CLIP	23592263
MIRT456319	hsa-miR-6738-5p	PAR-CLIP	23592263
MIRT456318	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT456317	hsa-miR-6086	PAR-CLIP	23592263
MIRT456316	hsa-miR-3173-5p	PAR-CLIP	23592263
MIRT456315	hsa-miR-6799-3p	PAR-CLIP	23592263
MIRT456314	hsa-miR-1291	PAR-CLIP	23592263
MIRT456313	hsa-miR-6775-3p	PAR-CLIP	23592263
MIRT456312	hsa-miR-6851-3p	PAR-CLIP	23592263
MIRT456311	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT456310	hsa-miR-8085	PAR-CLIP	23592263
MIRT456309	hsa-miR-3175	PAR-CLIP	23592263
MIRT456308	hsa-miR-6834-5p	PAR-CLIP	23592263
MIRT456307	hsa-miR-1226-5p	PAR-CLIP	23592263
MIRT456306	hsa-miR-6734-5p	PAR-CLIP	23592263
MIRT456305	hsa-miR-328-3p	PAR-CLIP	23592263
MIRT456304	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT795613	hsa-miR-3190	CLIP-seq
MIRT795614	hsa-miR-4663	CLIP-seq
MIRT795615	hsa-miR-628-5p	CLIP-seq
MIRT795616	hsa-miR-361-3p	CLIP-seq
MIRT795617	hsa-miR-4436b-5p	CLIP-seq
MIRT795618	hsa-miR-4668-3p	CLIP-seq
MIRT795619	hsa-miR-548c-3p	CLIP-seq
MIRT795620	hsa-miR-605	CLIP-seq
MIRT2174769	hsa-miR-3065-5p	CLIP-seq
MIRT2174770	hsa-miR-4773	CLIP-seq
MIRT2174771	hsa-miR-154	CLIP-seq
MIRT2675309	hsa-miR-1915	CLIP-seq
MIRT2675310	hsa-miR-2964a-5p	CLIP-seq
MIRT2675311	hsa-miR-4474-3p	CLIP-seq
MIRT2675312	hsa-miR-4642	CLIP-seq
MIRT2675313	hsa-miR-4726-3p	CLIP-seq
MIRT2675314	hsa-miR-609	CLIP-seq
MIRT2675315	hsa-miR-663b	CLIP-seq

Show/Hide all (63)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IBA
GO:0000902	Process	Cell morphogenesis	IMP	11912491
GO:0002376	Process	Immune system process	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	9857026
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005515	Function	Protein binding	IPI	14970201, 15161933, 19043560, 21887730, 25416956, 25609649, 28514442, 31515488, 32296183, 33961781, 34591642, 35271311, 36931259
GO:0005515	Function	Protein binding	ISS
GO:0005737	Component	Cytoplasm	IDA	21887730
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IBA
GO:0005856	Component	Cytoskeleton	IDA	21887730
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IDA	9857026, 21525035
GO:0005874	Component	Microtubule	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006886	Process	Intracellular protein transport	NAS	9857026
GO:0007015	Process	Actin filament organization	IBA
GO:0007015	Process	Actin filament organization	IMP	9857026
GO:0007026	Process	Negative regulation of microtubule depolymerization	IMP	11912491
GO:0007399	Process	Nervous system development	IEA
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IDA	9857026
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	NAS	11912491
GO:0016020	Component	Membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031267	Function	Small GTPase binding	IDA	9857026
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031982	Component	Vesicle	IDA	21887730
GO:0032587	Component	Ruffle membrane	IBA
GO:0032587	Component	Ruffle membrane	IDA	19043560
GO:0032587	Component	Ruffle membrane	IEA
GO:0032755	Process	Positive regulation of interleukin-6 production	IDA	21887730
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IDA	21887730
GO:0032991	Component	Protein-containing complex	IDA	21887730
GO:0035023	Process	Regulation of Rho protein signal transduction	IBA
GO:0035023	Process	Regulation of Rho protein signal transduction	NAS	11912491
GO:0042127	Process	Regulation of cell population proliferation	TAS	9857026
GO:0042995	Component	Cell projection	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IBA
GO:0045666	Process	Positive regulation of neuron differentiation	IDA	28453519
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	21887730
GO:0046872	Function	Metal ion binding	IEA
GO:0050731	Process	Positive regulation of peptidyl-tyrosine phosphorylation	IDA	21887730
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	19043560, 21887730
GO:0051301	Process	Cell division	IEA
GO:0055059	Process	Asymmetric neuroblast division	IDA	28453519
GO:0060546	Process	Negative regulation of necroptotic process	ISS
GO:0070161	Component	Anchoring junction	IEA
GO:0071225	Process	Cellular response to muramyl dipeptide	IDA	21887730
GO:0071356	Process	Cellular response to tumor necrosis factor	ISS
GO:0071474	Process	Cellular hyperosmotic response	ISS
GO:1902042	Process	Negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	ISS
GO:1902219	Process	Negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress	ISS
GO:2001224	Process	Positive regulation of neuron migration	ISS

MIM	HGNC	e!Ensembl
607560	682	ENSG00000116584

Q92974

Protein name

Rho guanine nucleotide exchange factor 2 (Guanine nucleotide exchange factor H1) (GEF-H1) (Microtubule-regulated Rho-GEF) (Proliferating cell nucleolar antigen p40)

Protein function

Activates Rho-GTPases by promoting the exchange of GDP for GTP. May be involved in epithelial barrier permeability, cell motility and polarization, dendritic spine morphology, antigen presentation, leukemic cell differentiation, cell cycle regul

PDB

5EFX , 7G80 , 7G81 , 7G82 , 7G83 , 7G84 , 7G85 , 7G86 , 7G87 , 7G88 , 7G89 , 7G8A , 7G8B , 7G8C , 7G8D , 7G8E , 7G8F , 7G8G , 7G8H , 7G8I , 7G8J , 7G8K , 7G8L , 7G8M , 7G8N , 7G8O , 7G8P , 7G8Q , 7G8R , 7G8S , 7G8T , 7G8U , 7G8V , 7G8W , 7G8X , 7G8Y , 7G8Z , 7G90 , 7G91 , 7G92 , 7G93 , 7G94 , 7G95 , 7G96 , 7G97 , 7G98 , 7G99 , 7G9A , 7G9B , 7G9C , 7G9D

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00621	RhoGEF	239 → 430	RhoGEF domain	Domain
PF17838	PH_16	458 → 571	PH domain	Domain

Sequence

MSRIESLTRARIDRSRELASKTREKEKMKEAKDARYTNGHLFTTISVSGMTMCYACNKSI
TAKEALICPTCNVTIHNRCKDTLANCTKVKQKQQKAALLKNNTALQSVSLRSKTTIRERP
SSAIYPSDSFRQSLLGSRRGRSSLSLAKSVSTTNIAGHFNDESPLGLRRILSQSTDSLNM
RNRTLSVESLIDEAEVIYSELMSDFEMDEKDFAADSWSLAVDSSFLQQHKKEVMKQQDVI
YELIQTELHHVRTLKIMTRLFRTGMLEELHLEPGVVQGLFPCVDELSDIHTRFLSQLLER
RRQALCPGSTRNFVIHRLGDLLISQFSGPSAEQMCKTYSEFCSRHSKALKLYKELYARDK
RFQQFIRKVTRPAVLKRHGVQECILLVTQRITKYPLLISRILQHSHGIEEERQDLTTALG
LVKELLSNVDEGIYQLEKGARLQEIYNRMDPRAQTPVPGKGPFGREELLRRKLIHDGCLL
WKTATGRFKDVLVLLMTDVLVFLQEKDQKYIFPTLDKPSVVSLQNLIVRDIANQEKGMFL
ISAAPPEMYEVHTASRDDRSTWIRVIQQSVRTCPSREDFPLIETEDEAYLRRIKMELQQK
DRALVELLREKVGLFAEMTHFQAEEDGGSGMALPTLPRGLFRSESLESPRGERLLQDAIR
EVEGLKDLLVGPGVELLLTPREPALPLEPDSGGNTSPGVTANGEARTFNGSIELCRADSD
SSQRDRNGNQLRSPQEEALQRLVNLYGLLHGLQAAVAQQDTLMEARFPEGPERREKLCRA
NSRDGEAGRAGAAPVAPEKQATELALLQRQHALLQEELRRCRRLGEERATEAGSLEARLR
ESEQARALLEREAEEARRQLAALGQTEPLPAEAPWARRPVDPRRRSLPAGDALYLSFNPP
QPSRGTDRLDLPVTTRSVHRNFEDRERQELGSPEERLQDSSDPDTGSEEEGSSRLSPPHS
PRDFTRMQDIPEETESRDGEAVASES

Sequence length

986

Interactions

View interactions

	KEGG		Reactome
	Tight junction Pathogenic Escherichia coli infection Shigellosis Fluid shear stress and atherosclerosis		NRAGE signals death through JNK Rho GTPase cycle 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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurodevelopmental disorder with midbrain and hindbrain malformations	Pathogenic	rs1114167454	RCV000490812	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (14)

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	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARHGEF2-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (139)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Aarskog syndrome	Aarskog Syndrome	BEFREE	10906777, 11751687, 20045932		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	15652748, 22071786, 24194854, 25189640, 26317919, 28298147, 28394798, 28498881, 30718697, 31653135, 31786484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26469326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	31653135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	25015728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	17190834, 17599059		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	30285997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	GWASCAT_DG	22959728		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)	Amyotrophic lateral sclerosis	BEFREE	12866199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	29880011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	31320700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	15988104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	16482511		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	15007350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	15988104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	23720743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28850053, 31342656		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	18205865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	35174982	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12838323, 16171567, 19771430, 21172654, 22174609, 26330357, 29983884, 8895199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast Diseases	BEFREE	8895199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22002306, 22174609, 22513363, 22960035, 23380069, 27185877	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	25015728, 26330357, 30258209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30637779, 35896520	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18575757, 22071786, 24858039, 26575266, 30354850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23512329	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	BEFREE	22071786, 24418859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	34745385	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	17564959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	24597981, 28465528		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	22356855, 31010817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22770988, 30846413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	25922072	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23784800, 26461472, 30846413, 31304629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	17190834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26916336, 30846413, 37193711	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	35174982	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	28453519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27573550		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	15988104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	11515847, 12424624, 17007011, 18830267, 21887730, 23389767, 24138637, 28365485, 29409871, 29846261, 29909019, 30060945, 30169620, 30563755, 30884245, 31327402, 31722356, 31828765, 9502407 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	18276743, 29880011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	28464009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	29544684		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	11080718, 27745907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35174982	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15988104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15988104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	12424623, 15603869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	23720743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	11080718, 27745907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	15054402		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	21633362		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	29106825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	30285997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28325896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	30696333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	29731755		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Angle Closure	Angle closure glaucoma	Pubtator	32339198	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25384085, 26764186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25384085, 26764186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26764186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	25846718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	31722356		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	30622143	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	BEFREE	1655580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	30837268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	12914676		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	8656012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28464009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	11515847, 23573954, 28100093, 29754190, 29788053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	25898924, 28453519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	27009485, 29106825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10681437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	Pubtator	17576779	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	20016818, 20958979		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	21560189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	14578863, 30637779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	31488173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	29779777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	34731623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	10525320, 11014347, 30664357, 31342656		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23512329	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	BEFREE	12153001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	12153001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	12153001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12838323, 16171567, 19771430, 21172654, 22174609, 29983884, 8895199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18575757, 22071786, 24858039, 30354850, 30718697		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27835861		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10362802, 16384856, 21765461, 29073075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29587866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12824883, 16778209, 18565182, 25494542, 25829446, 27422710, 28110998, 28923919, 29073075, 29432733, 29454349, 30714195, 30846413, 8895199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22770988, 30846413		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	18565182, 26884185, 27573550		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	20803552	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	28706196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	11553588		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	10516776, 15988104, 26000455, 28028151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11358987, 12838323, 12850476, 16171567, 16763609, 16778209, 16823838, 17190834, 18565182, 23070684, 24525234, 25130377, 27573550, 27835861, 28808017 View all (9 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	20810787		★★★★★ ★☆☆☆☆ Found in Text Mining only
NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS	Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	GENOMICS_ENGLAND_DG	28453519		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28453519, 28973398, 30850274		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	30354850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25687035, 27258567, 29410129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	26330357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	BEFREE	24522193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	29115457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondritis Dissecans	Osteochondritis Dissecans	BEFREE	28197693		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	27835861		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	27835861, 28656876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	29115457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	BEFREE	15620465		★★★★★ ★☆☆☆☆ Found in Text Mining only
POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE	Polycystic Kidney Disease With Or Without Polycystic Liver Disease	BEFREE	31745977		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	29097023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10362802, 16384856, 29073075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36335093	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	23376980, 25354400, 28100093, 29544684, 30215632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	14707118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	20631154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11145021, 18276743, 26956410, 29880011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	25757715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	21633362		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	30957413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	22071786, 24166777, 24194854, 26317919, 28298147, 30216599, 30546464, 31366562, 31786484, 31845086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29587866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18827818	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31745977		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	11515847, 24138637, 30563755, 30884245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	29106825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked retinitis pigmentosa	Retinitis Pigmentosa, X-Linked	BEFREE	20631154		★★★★★ ★☆☆☆☆ Found in Text Mining only

ARHGEF2 (Rho/Rac guanine nucleotide exchange factor 2)