ROBO2 (roundabout guidance receptor 2)

Gene

• Entrez ID: 6092
• Gene name: Roundabout guidance receptor 2
• Gene symbol: ROBO2
• Synonyms (NCBI Gene): SAX3
• Chromosome: 3
• Chromosome location: 3p12.3
• Summary: The protein encoded by this gene belongs to the ROBO family, part of the immunoglobulin superfamily of proteins that are highly conserved from fly to human. The encoded protein is a transmembrane receptor for the slit homolog 2 protein and functions in ax

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs267607014	T>C	Pathogenic	Coding sequence variant, missense variant
rs267607015	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs754279676	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005809	hsa-miR-145-5p	In situ hybridization, Luciferase reporter assay, qRT-PCR, western blot	21276775
MIRT005809	hsa-miR-145-5p	Reporter assay	21276775
MIRT038206	hsa-miR-342-5p	CLASH	23622248
MIRT541770	hsa-miR-8084	PAR-CLIP	21572407
MIRT541769	hsa-miR-4731-3p	PAR-CLIP	21572407
MIRT541768	hsa-miR-4801	PAR-CLIP	21572407
MIRT541767	hsa-miR-6844	PAR-CLIP	21572407
MIRT541766	hsa-miR-514a-3p	PAR-CLIP	21572407
MIRT541765	hsa-miR-514b-3p	PAR-CLIP	21572407
MIRT541770	hsa-miR-8084	PAR-CLIP	21572407
MIRT541769	hsa-miR-4731-3p	PAR-CLIP	21572407
MIRT541768	hsa-miR-4801	PAR-CLIP	21572407
MIRT541767	hsa-miR-6844	PAR-CLIP	21572407
MIRT541766	hsa-miR-514a-3p	PAR-CLIP	21572407
MIRT541765	hsa-miR-514b-3p	PAR-CLIP	21572407
MIRT1314590	hsa-miR-1305	CLIP-seq
MIRT1314591	hsa-miR-205	CLIP-seq
MIRT1314592	hsa-miR-2278	CLIP-seq
MIRT1314593	hsa-miR-23a	CLIP-seq
MIRT1314594	hsa-miR-23b	CLIP-seq
MIRT1314595	hsa-miR-23c	CLIP-seq
MIRT1314596	hsa-miR-297	CLIP-seq
MIRT1314597	hsa-miR-3149	CLIP-seq
MIRT1314598	hsa-miR-338-5p	CLIP-seq
MIRT1314599	hsa-miR-33a	CLIP-seq
MIRT1314600	hsa-miR-33b	CLIP-seq
MIRT1314601	hsa-miR-380	CLIP-seq
MIRT1314602	hsa-miR-4279	CLIP-seq
MIRT1314603	hsa-miR-4682	CLIP-seq
MIRT1314604	hsa-miR-4711-3p	CLIP-seq
MIRT1314605	hsa-miR-4720-5p	CLIP-seq
MIRT1314606	hsa-miR-4799-3p	CLIP-seq
MIRT1314607	hsa-miR-511	CLIP-seq
MIRT1314608	hsa-miR-513a-3p	CLIP-seq
MIRT1314609	hsa-miR-567	CLIP-seq
MIRT1314610	hsa-miR-582-5p	CLIP-seq
MIRT1314611	hsa-miR-587	CLIP-seq
MIRT1314612	hsa-miR-646	CLIP-seq
MIRT1314613	hsa-miR-654-3p	CLIP-seq
MIRT1314614	hsa-miR-155	CLIP-seq
MIRT1314615	hsa-miR-208a	CLIP-seq
MIRT1314616	hsa-miR-208b	CLIP-seq
MIRT1314617	hsa-miR-4432	CLIP-seq
MIRT1314618	hsa-miR-448	CLIP-seq
MIRT1314619	hsa-miR-499-5p	CLIP-seq
MIRT1314620	hsa-miR-622	CLIP-seq
MIRT2093556	hsa-miR-1911	CLIP-seq
MIRT2093557	hsa-miR-4474-3p	CLIP-seq
MIRT2093558	hsa-miR-4762-3p	CLIP-seq
MIRT2093559	hsa-miR-580	CLIP-seq
MIRT1314618	hsa-miR-448	CLIP-seq
MIRT2318092	hsa-miR-1267	CLIP-seq
MIRT2318093	hsa-miR-141	CLIP-seq
MIRT2318094	hsa-miR-200a	CLIP-seq
MIRT1314597	hsa-miR-3149	CLIP-seq
MIRT2318095	hsa-miR-345	CLIP-seq
MIRT2318096	hsa-miR-3913-3p	CLIP-seq
MIRT2318097	hsa-miR-4652-3p	CLIP-seq
MIRT2318098	hsa-miR-489	CLIP-seq
MIRT2318099	hsa-miR-514	CLIP-seq
MIRT2393856	hsa-miR-3688-3p	CLIP-seq
MIRT1314602	hsa-miR-4279	CLIP-seq
MIRT1314608	hsa-miR-513a-3p	CLIP-seq
MIRT2093556	hsa-miR-1911	CLIP-seq
MIRT2458501	hsa-miR-4539	CLIP-seq
MIRT2458502	hsa-miR-4724-5p	CLIP-seq
MIRT2093556	hsa-miR-1911	CLIP-seq
MIRT2458501	hsa-miR-4539	CLIP-seq
MIRT2458502	hsa-miR-4724-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001656	Process	Metanephros development	ISS
GO:0001657	Process	Ureteric bud development	IMP	17357069
GO:0003129	Process	Heart induction	ISS
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003180	Process	Aortic valve morphogenesis	ISS
GO:0003184	Process	Pulmonary valve morphogenesis	ISS
GO:0003272	Process	Endocardial cushion formation	ISS
GO:0005515	Function	Protein binding	IPI	12504588, 15207848, 32296183
GO:0005886	Component	Plasma membrane	TAS
GO:0006935	Process	Chemotaxis	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IDA	12504588
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007411	Process	Axon guidance	ISS
GO:0007417	Process	Central nervous system development	NAS	9458045
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	IEP	10197527
GO:0008046	Function	Axon guidance receptor activity	ISS
GO:0008046	Function	Axon guidance receptor activity	NAS	9458045
GO:0009986	Component	Cell surface	IDA	12504588
GO:0016020	Component	Membrane	IEA
GO:0016199	Process	Axon midline choice point recognition	ISS
GO:0021891	Process	Olfactory bulb interneuron development	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0030673	Component	Axolemma	ISS
GO:0031290	Process	Retinal ganglion cell axon guidance	ISS
GO:0032870	Process	Cellular response to hormone stimulus	IEP	18566128
GO:0035295	Process	Tube development	IEA
GO:0035904	Process	Aorta development	ISS
GO:0042802	Function	Identical protein binding	IDA	12504588
GO:0045747	Process	Positive regulation of Notch signaling pathway	ISS
GO:0050772	Process	Positive regulation of axonogenesis	IDA	12504588
GO:0050772	Process	Positive regulation of axonogenesis	IEA
GO:0050925	Process	Negative regulation of negative chemotaxis	IDA	11748139
GO:0050925	Process	Negative regulation of negative chemotaxis	IEA
GO:0051964	Process	Negative regulation of synapse assembly	ISS
GO:0060412	Process	Ventricular septum morphogenesis	ISS
GO:0061364	Process	Apoptotic process involved in luteolysis	IEP	18566128
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0098609	Process	Cell-cell adhesion	IBA

Other IDs

• MIM: 602431
• HGNC: 10250
• e!Ensembl: ENSG00000185008

Protein

• UniProt ID: Q9HCK4
• Protein name: Roundabout homolog 2
• Protein function: Receptor for SLIT2, and probably SLIT1, which are thought to act as molecular guidance cue in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal
• PDB: 1UEM, 1UJT, 2EDJ, 5NOI, 6I9S, 6IAA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13927	Ig_3	30 → 114		Domain
  PF07679	I-set	133 → 221	Immunoglobulin I-set domain	Domain
  PF07679	I-set	225 → 310	Immunoglobulin I-set domain	Domain
  PF07679	I-set	314 → 408	Immunoglobulin I-set domain	Domain
  PF07679	I-set	418 → 505	Immunoglobulin I-set domain	Domain
  PF00041	fn3	523 → 607	Fibronectin type III domain	Domain
  PF00041	fn3	640 → 724	Fibronectin type III domain	Domain
  PF00041	fn3	738 → 826	Fibronectin type III domain	Domain

• Sequence:

  MSLLMFTQLLLCGFLYVRVDGSRLRQEDFPPRIVEHPSDVIVSKGEPTTLNCKAEGRPTP
  TIEWYKDGERVETDKDDPRSHRMLLPSGSLFFLRIVHGRRSKPDEGSYVCVARNYLGEAV
  SRNASLEVALLRDDFRQNPTDVVVAAGEPAILECQPPRGHPEPTIYWKKDKVRIDDKEER
  ISIRGGKLMISNTRKSDAGMYTCVGTNMVGERDSDPAELTVFERPTFLRRPINQVVLEEE
  AVEFRCQVQGDPQPTVRWKKDDADLPRGRYDIKDDYTLRIKKTMSTDEGTYMCIAENRVG
  KMEASATLTVRAPPQFVVRPRDQIVAQGRTVTFPCETKGNPQPAVFWQKEGSQNLLFPNQ
  PQQPNSRCSVSPTGDLTITNIQRSDAGYYICQALTVAGSILAKAQLEVTDVLTDRPPPII
  LQGPANQTLAVDGTALLKCKATGDPLPVISWLKEGFTFPGRDPRATIQEQGTLQIKNLRI
  SDTGTYTCVATSSSGETSWSAVLDVTESGATISKNYDLSDLPGPPSKPQVTDVTKNSVTL
  SWQPGTPGTLPASAYIIEAFSQSVSNSWQTVANHVKTTLYTVRGLRPNTIYLFMVRAINP
  QGLSDPSPMSDPVRTQDISPPAQGVDHRQVQKELGDVLVRLHNPVVLTPTTVQVTWTVDR
  QPQFIQGYRVMYRQTSGLQATSSWQNLDAKVPTERSAVLVNLKKGVTYEIKVRPYFNEFQ
  GMDSESKTVRTTEEAPSAPPQSVTVLTVGSYNSTSISVSWDPPPPDHQNGIIQEYKIWCL
  GNETRFHINKTVDAAIRSVIIGGLFPGIQYRVEVAASTSAGVGVKSEPQPIIIGRRNEVV
  ITENNNSITEQITDVVKQPAFIAGIGGACWVILMGFSIWLYWRRKKRKGLSNYAVTFQRG
  DGGLMSNGSRPGLLNAGDPSYPWLADSWPATSLPVNNSNSGPNEIGNFGRGDVLPPVPGQ
  GDKTATMLSDGAIYSSIDFTTKTSYNSSSQITQATPYATTQILHSNSIHELAVDLPDPQW
  KSSIQQKTDLMGFGYSLPDQNKGNNGGKGGKKKKNKNSSKPQKNNGSTWANVPLPPPPVQ
  PLPGTELEHYAVEQQENGYDSDSWCPPLPVQTYLHQGLEDELEEDDDRVPTPPVRGVASS
  PAISFGQQSTATLTPSPREEMQPMLQAHLDELTRAYQFDIAKQTWHIQSNNQPPQPPVPP
  LGYVSGALISDLETDVADDDADDEEEALEIPRPLRALDQTPGSSMDNLDSSVTGKAFTSS
  QRPRPTSPFSTDSNTSAALSQSQRPRPTKKHKGGRMDQQPALPHRREGMTDEEALVPYSK
  PSFPSPGGHSSSGTASSKGSTGPRKTEVLRAGHQRNASDLLDIGYMGSNSQGQFTGEL

• Sequence length: 1378

Pathways

KEGG:

Axon guidance

Reactome:

Signaling by ROBO receptors
Regulation of commissural axon pathfinding by SLIT and ROBO

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BELL'S PALSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAKUT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLANGIOCARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomaly of kidney and urinary tract	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEFICIENCY ANEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EATING DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL VESICOURETERAL REFLUX	—	Disgenet, HPO, Orphanet Disgenet, HPO, Orphanet Disgenet, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES, PARASITIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROBO2-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLEEP APNEA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESICO-URETERAL REFLUX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vesicoureteral reflux	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vesicoureteral reflux 2	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	30820596		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30504844		★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial Personality Disorder	BEFREE	23982283		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	38181310	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	17010153	Associate	★☆☆☆☆ Found in Text Mining only
Auditory Perceptual Disorders	Auditory perceptual disorder	Pubtator	17010153	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	18270976		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	18270976		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	25226531	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cakut	Congenital anomalies of kidney and urinary tract	BEFREE	17357069, 18235093, 26026792, 27002985, 30987821		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	18235093, 24429398	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	22719878, 22968929, 27461616	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19114000, 38297025	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	36508697	Associate	★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	22719878		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	22719878		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	CTD_human_DG	22561520		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	27009864, 33468537	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31571851		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24247621		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22968929	Associate	★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct Disorder	BEFREE	23982283		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	32041992	Associate	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	25693006		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	BEFREE	27002985		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Microtia	Congenital microtia	Pubtator	35584116	Associate	★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	31534052		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	32681239	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32973238	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	20634963	Associate	★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	17010153	Associate	★☆☆☆☆ Found in Text Mining only
Double ureter	Double Ureter	BEFREE	22558067		★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	25226531	Associate	★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	CTD_human_DG	22561520		★☆☆☆☆ Found in Text Mining only
Familial vesicoureteral reflux	Vesicoureteral Reflux	ORPHANET_DG	17357069		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial vesicoureteral reflux	Vesicoureteral Reflux	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial vesicoureteral reflux	Vesicoureteral Reflux	BEFREE	18235093		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	36508697	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	31640794	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	CTD_human_DG	22561520		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	20634963	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	28220884, 30820596	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30820596		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	38297025	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29942085		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29662167		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27461616		★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	26608094		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	22719878	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	26608094		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	26608094	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22719878, 22906418, 24247621		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22906418		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22132142	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	38297025	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	34732256	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	GWASCAT_DG	27515689		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24272677	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29662167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27461616		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27461616	Associate	★☆☆☆☆ Found in Text Mining only
Symmetrical dyschromatosis of extremities	Symmetrical Dyschromatosis Of Extremities	BEFREE	29463707		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	38073378	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	22719878	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	36011316	Associate	★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	BEFREE	17357069, 18235093, 23536131, 27002985		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vesico-Ureteral Reflux	Vesicoureteral Reflux	LHGDN	17357069, 18235093		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vesico-Ureteral Reflux	Vesicoureteral Reflux	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vesicoureteral Reflux 1	Vesicoureteral Reflux	BEFREE	15829711, 17357069, 19350278, 22558067, 23536131, 27002985		★☆☆☆☆ Found in Text Mining only
Vesicoureteral Reflux 2	Vesicoureteral Reflux	UNIPROT_DG	17357069		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Vesicoureteral Reflux 2	Vesicoureteral Reflux	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Vesicoureteral Reflux 2	Vesicoureteral Reflux	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Vesicoureteral Reflux 2	Vesicoureteral Reflux	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)