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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	5880
Gene name	Rac family small GTPase 2
Gene symbol	RAC2
Synonyms (NCBI Gene)	EN-7GxHSPC022IMD73AIMD73BIMD73Cp21-Rac2
Chromosome	22
Chromosome location	22q13.1
Summary	This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarizati

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs74315507	C>T	Pathogenic	Coding sequence variant, missense variant
rs1555908409	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant

152

Show/Hide all (152)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016574	hsa-miR-193b-3p	Microarray	20304954
MIRT755715	hsa-miR-1246	Western blottingRNA-seq	38287447
MIRT1287073	hsa-miR-103a	CLIP-seq
MIRT1287074	hsa-miR-107	CLIP-seq
MIRT1287075	hsa-miR-122	CLIP-seq
MIRT1287076	hsa-miR-1914	CLIP-seq
MIRT1287077	hsa-miR-3180-5p	CLIP-seq
MIRT1287078	hsa-miR-3199	CLIP-seq
MIRT1287079	hsa-miR-342-5p	CLIP-seq
MIRT1287080	hsa-miR-3664-3p	CLIP-seq
MIRT1287081	hsa-miR-3937	CLIP-seq
MIRT1287082	hsa-miR-3944-5p	CLIP-seq
MIRT1287083	hsa-miR-4515	CLIP-seq
MIRT1287084	hsa-miR-4648	CLIP-seq
MIRT1287085	hsa-miR-4651	CLIP-seq
MIRT1287086	hsa-miR-4661-3p	CLIP-seq
MIRT1287087	hsa-miR-4664-5p	CLIP-seq
MIRT1287088	hsa-miR-4677-3p	CLIP-seq
MIRT1287089	hsa-miR-520a-5p	CLIP-seq
MIRT1287090	hsa-miR-525-5p	CLIP-seq
MIRT1287091	hsa-miR-608	CLIP-seq
MIRT1287092	hsa-miR-887	CLIP-seq
MIRT1287093	hsa-miR-922	CLIP-seq
MIRT1556923	hsa-miR-1286	CLIP-seq
MIRT1556924	hsa-miR-219-1-3p	CLIP-seq
MIRT1556925	hsa-miR-31	CLIP-seq
MIRT1556926	hsa-miR-3125	CLIP-seq
MIRT1556927	hsa-miR-3128	CLIP-seq
MIRT1556928	hsa-miR-3132	CLIP-seq
MIRT1556929	hsa-miR-326	CLIP-seq
MIRT1556930	hsa-miR-330-5p	CLIP-seq
MIRT1556931	hsa-miR-3916	CLIP-seq
MIRT1556932	hsa-miR-3928	CLIP-seq
MIRT1556933	hsa-miR-3940-5p	CLIP-seq
MIRT1556934	hsa-miR-4259	CLIP-seq
MIRT1556935	hsa-miR-4451	CLIP-seq
MIRT1556936	hsa-miR-4503	CLIP-seq
MIRT1556937	hsa-miR-4507	CLIP-seq
MIRT1556938	hsa-miR-4680-5p	CLIP-seq
MIRT1556939	hsa-miR-4720-3p	CLIP-seq
MIRT1556940	hsa-miR-4720-5p	CLIP-seq
MIRT1556941	hsa-miR-4731-5p	CLIP-seq
MIRT1556942	hsa-miR-4799-3p	CLIP-seq
MIRT1556943	hsa-miR-4804-3p	CLIP-seq
MIRT1556944	hsa-miR-544	CLIP-seq
MIRT1556945	hsa-miR-571	CLIP-seq
MIRT1556946	hsa-miR-629	CLIP-seq
MIRT1556947	hsa-miR-657	CLIP-seq
MIRT1556948	hsa-miR-877	CLIP-seq
MIRT2310539	hsa-miR-3126-3p	CLIP-seq
MIRT2310540	hsa-miR-3176	CLIP-seq
MIRT2310541	hsa-miR-3688-5p	CLIP-seq
MIRT2310542	hsa-miR-382	CLIP-seq
MIRT2310543	hsa-miR-3922-3p	CLIP-seq
MIRT2310544	hsa-miR-4474-3p	CLIP-seq
MIRT2310545	hsa-miR-885-3p	CLIP-seq
MIRT1287073	hsa-miR-103a	CLIP-seq
MIRT1287074	hsa-miR-107	CLIP-seq
MIRT2393373	hsa-miR-3065-3p	CLIP-seq
MIRT2393374	hsa-miR-4506	CLIP-seq
MIRT2393375	hsa-miR-450b-3p	CLIP-seq
MIRT1287085	hsa-miR-4651	CLIP-seq
MIRT2393376	hsa-miR-4787-5p	CLIP-seq
MIRT2393377	hsa-miR-602	CLIP-seq
MIRT1287091	hsa-miR-608	CLIP-seq
MIRT2393378	hsa-miR-769-3p	CLIP-seq
MIRT2393379	hsa-miR-873	CLIP-seq
MIRT1287073	hsa-miR-103a	CLIP-seq
MIRT1287074	hsa-miR-107	CLIP-seq
MIRT2606939	hsa-miR-1207-5p	CLIP-seq
MIRT2606940	hsa-miR-1264	CLIP-seq
MIRT2606941	hsa-miR-1301	CLIP-seq
MIRT2606942	hsa-miR-1909	CLIP-seq
MIRT1287076	hsa-miR-1914	CLIP-seq
MIRT2606943	hsa-miR-302a	CLIP-seq
MIRT2606944	hsa-miR-302b	CLIP-seq
MIRT2606945	hsa-miR-302c	CLIP-seq
MIRT2606946	hsa-miR-302d	CLIP-seq
MIRT2606947	hsa-miR-302e	CLIP-seq
MIRT1556925	hsa-miR-31	CLIP-seq
MIRT2606948	hsa-miR-342-3p	CLIP-seq
MIRT2606949	hsa-miR-3653	CLIP-seq
MIRT2606950	hsa-miR-3658	CLIP-seq
MIRT1287080	hsa-miR-3664-3p	CLIP-seq
MIRT2606951	hsa-miR-372	CLIP-seq
MIRT2606952	hsa-miR-373	CLIP-seq
MIRT1287082	hsa-miR-3944-5p	CLIP-seq
MIRT2606953	hsa-miR-4432	CLIP-seq
MIRT2606954	hsa-miR-4492	CLIP-seq
MIRT2606955	hsa-miR-4498	CLIP-seq
MIRT2606956	hsa-miR-4660	CLIP-seq
MIRT1287086	hsa-miR-4661-3p	CLIP-seq
MIRT1287088	hsa-miR-4677-3p	CLIP-seq
MIRT2606957	hsa-miR-4709-3p	CLIP-seq
MIRT2606958	hsa-miR-4736	CLIP-seq
MIRT2606959	hsa-miR-4763-3p	CLIP-seq
MIRT2606960	hsa-miR-5047	CLIP-seq
MIRT2606961	hsa-miR-513a-5p	CLIP-seq
MIRT2606962	hsa-miR-519a	CLIP-seq
MIRT2606963	hsa-miR-519b-3p	CLIP-seq
MIRT2606964	hsa-miR-519c-3p	CLIP-seq
MIRT2606965	hsa-miR-520a-3p	CLIP-seq
MIRT2606966	hsa-miR-520b	CLIP-seq
MIRT2606967	hsa-miR-520c-3p	CLIP-seq
MIRT2606968	hsa-miR-520d-3p	CLIP-seq
MIRT2606969	hsa-miR-520e	CLIP-seq
MIRT2606970	hsa-miR-548n	CLIP-seq
MIRT2606971	hsa-miR-548t	CLIP-seq
MIRT2606972	hsa-miR-561	CLIP-seq
MIRT2606973	hsa-miR-563	CLIP-seq
MIRT2606974	hsa-miR-762	CLIP-seq
MIRT1287093	hsa-miR-922	CLIP-seq
MIRT1287073	hsa-miR-103a	CLIP-seq
MIRT1287074	hsa-miR-107	CLIP-seq
MIRT2606939	hsa-miR-1207-5p	CLIP-seq
MIRT2606940	hsa-miR-1264	CLIP-seq
MIRT2606941	hsa-miR-1301	CLIP-seq
MIRT2606942	hsa-miR-1909	CLIP-seq
MIRT2689276	hsa-miR-1912	CLIP-seq
MIRT1287076	hsa-miR-1914	CLIP-seq
MIRT2606943	hsa-miR-302a	CLIP-seq
MIRT2606944	hsa-miR-302b	CLIP-seq
MIRT2606945	hsa-miR-302c	CLIP-seq
MIRT2606946	hsa-miR-302d	CLIP-seq
MIRT2606947	hsa-miR-302e	CLIP-seq
MIRT2606948	hsa-miR-342-3p	CLIP-seq
MIRT2606949	hsa-miR-3653	CLIP-seq
MIRT2606950	hsa-miR-3658	CLIP-seq
MIRT1287080	hsa-miR-3664-3p	CLIP-seq
MIRT2606951	hsa-miR-372	CLIP-seq
MIRT2606952	hsa-miR-373	CLIP-seq
MIRT1287082	hsa-miR-3944-5p	CLIP-seq
MIRT2606954	hsa-miR-4492	CLIP-seq
MIRT2606955	hsa-miR-4498	CLIP-seq
MIRT2606956	hsa-miR-4660	CLIP-seq
MIRT1287086	hsa-miR-4661-3p	CLIP-seq
MIRT1287088	hsa-miR-4677-3p	CLIP-seq
MIRT2606958	hsa-miR-4736	CLIP-seq
MIRT2606959	hsa-miR-4763-3p	CLIP-seq
MIRT2606960	hsa-miR-5047	CLIP-seq
MIRT2606961	hsa-miR-513a-5p	CLIP-seq
MIRT2606962	hsa-miR-519a	CLIP-seq
MIRT2606963	hsa-miR-519b-3p	CLIP-seq
MIRT2606964	hsa-miR-519c-3p	CLIP-seq
MIRT2606965	hsa-miR-520a-3p	CLIP-seq
MIRT2606966	hsa-miR-520b	CLIP-seq
MIRT2606967	hsa-miR-520c-3p	CLIP-seq
MIRT2606968	hsa-miR-520d-3p	CLIP-seq
MIRT2606969	hsa-miR-520e	CLIP-seq
MIRT2606973	hsa-miR-563	CLIP-seq
MIRT2606974	hsa-miR-762	CLIP-seq
MIRT1287093	hsa-miR-922	CLIP-seq

Show/Hide all (69)

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	2674130
GO:0005515	Function	Protein binding	IPI	22106281, 22949657, 32296183, 33961781
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	IMP	19625648
GO:0005635	Component	Nuclear envelope	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA	19625648
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IBA
GO:0005884	Component	Actin filament	IDA	19625648
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	NAS	27048830
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006935	Process	Chemotaxis	IBA
GO:0006935	Process	Chemotaxis	IEA
GO:0007015	Process	Actin filament organization	IBA
GO:0007015	Process	Actin filament organization	IMP	21167572
GO:0007163	Process	Establishment or maintenance of cell polarity	IBA
GO:0007165	Process	Signal transduction	IBA
GO:0007165	Process	Signal transduction	TAS	2674130
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008360	Process	Regulation of cell shape	IBA
GO:0010310	Process	Regulation of hydrogen peroxide metabolic process	TAS	16636067
GO:0010592	Process	Positive regulation of lamellipodium assembly	IBA
GO:0010592	Process	Positive regulation of lamellipodium assembly	IEA
GO:0010592	Process	Positive regulation of lamellipodium assembly	IMP	19625648
GO:0010810	Process	Regulation of cell-substrate adhesion	IEA
GO:0010810	Process	Regulation of cell-substrate adhesion	IMP	21167572
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019887	Function	Protein kinase regulator activity	IEA
GO:0019901	Function	Protein kinase binding	IBA
GO:0030027	Component	Lamellipodium	IDA	19625648
GO:0030031	Process	Cell projection assembly	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0030865	Process	Cortical cytoskeleton organization	IBA
GO:0031410	Component	Cytoplasmic vesicle	IBA
GO:0032956	Process	Regulation of actin cytoskeleton organization	IBA
GO:0042129	Process	Regulation of T cell proliferation	IEA
GO:0042554	Process	Superoxide anion generation	IDA	38355798
GO:0042995	Component	Cell projection	IBA
GO:0043020	Component	NADPH oxidase complex	IDA	38355798
GO:0043020	Component	NADPH oxidase complex	NAS	24598074
GO:0043131	Process	Erythrocyte enucleation	IEA
GO:0043304	Process	Regulation of mast cell degranulation	IEA
GO:0045453	Process	Bone resorption	IEA
GO:0045730	Process	Respiratory burst	NAS	27048830
GO:0060263	Process	Regulation of respiratory burst	IDA	16636067
GO:0060753	Process	Regulation of mast cell chemotaxis	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337, 23533145
GO:0070662	Process	Mast cell proliferation	IEA
GO:0070668	Process	Positive regulation of mast cell proliferation	IEA
GO:0071593	Process	Lymphocyte aggregation	IMP	21167572
GO:0090023	Process	Positive regulation of neutrophil chemotaxis	IEA
GO:0090023	Process	Positive regulation of neutrophil chemotaxis	IMP	19625648
GO:1902622	Process	Regulation of neutrophil migration	IBA
GO:1902622	Process	Regulation of neutrophil migration	IMP	21167572
GO:1903955	Process	Positive regulation of protein targeting to mitochondrion	HMP	24270810

MIM	HGNC	e!Ensembl
602049	9802	ENSG00000128340

P15153

Protein name

Ras-related C3 botulinum toxin substrate 2 (EC 3.6.5.2) (GX) (Small G protein) (p21-Rac2)

Protein function

Plasma membrane-associated small GTPase which cycles between an active GTP-bound and inactive GDP-bound state (PubMed:30723080). In its active state, binds to a variety of effector proteins to regulate cellular responses, such as secretory proce

PDB

1DS6 , 2W2T , 2W2V , 2W2X

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00071	Ras	5 → 178	Ras family	Domain

Tissue specificity

TISSUE SPECIFICITY: Hematopoietic specific.

Sequence

MQAIKCVVVGDGAVGKTCLLISYTTNAFPGEYIPTVFDNYSANVMVDSKPVNLGLWDTAG
QEDYDRLRPLSYPQTDVFLICFSLVSPASYENVRAKWFPEVRHHCPSTPIILVGTKLDLR
DDKDTIEKLKEKKLAPITYPQGLALAKEIDSVKYLECSALTQRGLKTVFDEAIRAVLCPQ
PTRQQKRACSLL

Sequence length

192

Interactions

View interactions

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	Likely pathogenic; Pathogenic	rs1555908409, rs1927393826, rs1927078072	RCV001254813 RCV001254814 RCV001254815	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	Likely pathogenic; Pathogenic	rs1555908409, rs2145824966	RCV003224325 RCV001254816	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neutrophil immunodeficiency syndrome	Likely pathogenic; Pathogenic	rs1927110683, rs74315507, rs1555908409	RCV002918957 RCV000008011 RCV000541785	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

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.
CELIAC DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 73A WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LEUKOCYTOSIS	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RAC2-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (129)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia	Anemia	BEFREE	20655266		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27834690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	17897462, 27626941, 32013628, 39980031	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	15812594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	27834690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	34122426, 35937806	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	21680873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	31919089	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	29749511		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	15812594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30358611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23591873, 32044879, 35233733	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	39596003	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23728943	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29895215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28029655, 36854280, 39596003	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31364727	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	35773742	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	31591516		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	Pubtator	31591516	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Kidney Diseases	Kidney Disease	BEFREE	31721901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27542411		★★★★★ ★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	21606482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cobblestone Lissencephaly	Cobblestone lissencephaly	Pubtator	26016997	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	12918107		★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	31071452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital leukocyte adherence deficiency	Congenital Leukocyte Adherence Deficiency	BEFREE	21178276		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	BEFREE	10779444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	23927520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31364727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	21900546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	21900546	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	28093232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29715450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29715450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	26485223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	34735495	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	19996402		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	18663750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	24168557		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	19555660		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19505917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28160553		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28160553		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	18217210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	23612905, 28665696		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	GWASDB_DG	23612905		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	CTD_human_DG	16330681		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	23927520	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	23850828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	23927520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	32636302, 35689244, 38194689	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	12468931, 22014524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile malignant osteopetrosis	Malignant Osteopetrosis	BEFREE	22114304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	21900546, 29454792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	39273699	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	28093232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Hypertension	Intracranial hypertension	Pubtator	18613964	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	21900546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	26457648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	CTD_human_DG	26457648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kashin-Beck Disease	Kashin-Beck Disease	BEFREE	23069848		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	12027902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19448413, 26016997	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	20804509, 21940819, 24880064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	21940819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	BEFREE	21178276		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	Pubtator	38194689	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23918301, 24379610		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31364727	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	CTD_human_DG	19783987		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	22374993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	19996402, 30723080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30358611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29895215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16472687, 31389670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11568556, 23487764, 29895215, 30744493		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	12918107		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	17145863		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	31281584		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	Pubtator	20406964	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29242557		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	26016997	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	27809691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	37657941	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	22411871, 26072332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	35864510	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	38518731	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23764197, 31364727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	38194689	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	10779444	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutrophil Immunodeficiency Syndrome	Neutrophil Immunodeficiency Syndrome	BEFREE	10758162		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neutrophil Immunodeficiency Syndrome	Neutrophil Immunodeficiency Syndrome	UNIPROT_DG	10758162		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neutrophil Immunodeficiency Syndrome	Neutrophil Immunodeficiency Syndrome	CLINVAR_DG	10758162, 10961859, 11278678, 14676277, 21167572		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neutrophil Immunodeficiency Syndrome	Neutrophil Immunodeficiency Syndrome	ORPHANET_DG	10758162		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neutrophil immunodeficiency syndrome	Neutrophil Immunodeficiency Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neutrophil Immunodeficiency Syndrome	Neutrophil Immunodeficiency Syndrome	GENOMICS_ENGLAND_DG	25512081		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neutrophil Immunodeficiency Syndrome	Neutrophil Immunodeficiency Syndrome	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neutrophilia (disorder)	Neutrophilia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29895215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	35937806	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	20683708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28289332, 28323887, 31279058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	37537613	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	21382035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16472687, 31389670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31389670	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	34122426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28817691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	38194689	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17897462, 31776092		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	38166692	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	31919089, 38194689	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Shprintzen-Goldberg syndrome	Shprintzen-Goldberg Syndrome	BEFREE	19996402		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	11568556	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28759751		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tangier Disease	Tangier Disease	BEFREE	11078892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	10504000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	28594844	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30971775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urachal Cyst	Urachal Cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	20530044	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	21178274		★★★★★ ★☆☆☆☆ Found in Text Mining only

RAC2 (Rac family small GTPase 2)