NRP2 (neuropilin 2)

Gene

• Entrez ID: 8828
• Gene name: Neuropilin 2
• Gene symbol: NRP2
• Synonyms (NCBI Gene): NP2, NPN2, PRO2714, VEGF165R2
• Chromosome: 2
• Chromosome location: 2q33.3
• Summary: This gene encodes a member of the neuropilin family of receptor proteins. The encoded transmembrane protein binds to SEMA3C protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C} and SEMA3F protein {sema domain, i

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs779617179	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017537	hsa-miR-335-5p	Microarray	18185580
MIRT019236	hsa-miR-331-3p	Sequencing	20371350
MIRT025587	hsa-miR-10b-5p	Reporter assay	21642433
MIRT019236	hsa-miR-331-3p	Luciferase reporter assay, Western blot	24142150
MIRT437981	hsa-miR-196a-5p	Luciferase reporter assay	24681820
MIRT019236	hsa-miR-331-3p	Luciferase reporter assay, Western blot	24142150
MIRT437981	hsa-miR-196a-5p	Luciferase reporter assay	24681820
MIRT019236	hsa-miR-331-3p	qRT-PCR	26259043
MIRT019236	hsa-miR-331-3p	Luciferase reporter assay, qRT-PCR, Western blot	27548144
MIRT737160	hsa-miR-146a-3p	Luciferase reporter assay, Western blotting, qRT-PCR	33396906
MIRT019236	hsa-miR-331-3p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR	31807170
MIRT755581	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR, Immunohistochemistry (IHC), RNA-seq, Flow cytometry, Immunocytochemistry (ICC), ELISA	38766528
MIRT1194392	hsa-miR-10a	CLIP-seq
MIRT1194393	hsa-miR-10b	CLIP-seq
MIRT1194394	hsa-miR-1179	CLIP-seq
MIRT1194395	hsa-miR-1297	CLIP-seq
MIRT1194396	hsa-miR-1305	CLIP-seq
MIRT1194397	hsa-miR-24	CLIP-seq
MIRT1194398	hsa-miR-26a	CLIP-seq
MIRT1194399	hsa-miR-26b	CLIP-seq
MIRT1194400	hsa-miR-3140-3p	CLIP-seq
MIRT1194401	hsa-miR-3545-3p	CLIP-seq
MIRT1194402	hsa-miR-3607-3p	CLIP-seq
MIRT1194403	hsa-miR-3662	CLIP-seq
MIRT1194404	hsa-miR-3919	CLIP-seq
MIRT1194405	hsa-miR-3925-5p	CLIP-seq
MIRT1194406	hsa-miR-4284	CLIP-seq
MIRT1194407	hsa-miR-4420	CLIP-seq
MIRT1194408	hsa-miR-4436b-5p	CLIP-seq
MIRT1194409	hsa-miR-4465	CLIP-seq
MIRT1194410	hsa-miR-4530	CLIP-seq
MIRT1194411	hsa-miR-498	CLIP-seq
MIRT1194412	hsa-miR-587	CLIP-seq
MIRT1194413	hsa-miR-922	CLIP-seq
MIRT1194414	hsa-miR-106a	CLIP-seq
MIRT1194415	hsa-miR-106b	CLIP-seq
MIRT1194416	hsa-miR-130a	CLIP-seq
MIRT1194417	hsa-miR-130b	CLIP-seq
MIRT1194418	hsa-miR-151-5p	CLIP-seq
MIRT1194419	hsa-miR-151b	CLIP-seq
MIRT1194420	hsa-miR-17	CLIP-seq
MIRT1194421	hsa-miR-19a	CLIP-seq
MIRT1194422	hsa-miR-19b	CLIP-seq
MIRT1194423	hsa-miR-20a	CLIP-seq
MIRT1194424	hsa-miR-20b	CLIP-seq
MIRT1194425	hsa-miR-301a	CLIP-seq
MIRT1194426	hsa-miR-301b	CLIP-seq
MIRT1194427	hsa-miR-3150b-3p	CLIP-seq
MIRT1194428	hsa-miR-3666	CLIP-seq
MIRT1194429	hsa-miR-377	CLIP-seq
MIRT1194430	hsa-miR-4295	CLIP-seq
MIRT1194431	hsa-miR-454	CLIP-seq
MIRT1194432	hsa-miR-4784	CLIP-seq
MIRT1194433	hsa-miR-519a	CLIP-seq
MIRT1194434	hsa-miR-519b-3p	CLIP-seq
MIRT1194435	hsa-miR-519c-3p	CLIP-seq
MIRT1194436	hsa-miR-519d	CLIP-seq
MIRT1194437	hsa-miR-548t	CLIP-seq
MIRT1194438	hsa-miR-93	CLIP-seq
MIRT2056498	hsa-miR-3120-5p	CLIP-seq
MIRT2056499	hsa-miR-3148	CLIP-seq
MIRT1194429	hsa-miR-377	CLIP-seq
MIRT2056500	hsa-miR-425	CLIP-seq
MIRT2056501	hsa-miR-4652-3p	CLIP-seq
MIRT2056502	hsa-miR-4659a-3p	CLIP-seq
MIRT2056503	hsa-miR-4659b-3p	CLIP-seq
MIRT2056504	hsa-miR-4668-5p	CLIP-seq
MIRT2056505	hsa-miR-579	CLIP-seq
MIRT2056506	hsa-miR-875-3p	CLIP-seq
MIRT2442421	hsa-miR-2115	CLIP-seq
MIRT1194429	hsa-miR-377	CLIP-seq
MIRT2442422	hsa-miR-4685-5p	CLIP-seq
MIRT2442423	hsa-miR-516a-3p	CLIP-seq
MIRT2582926	hsa-miR-1273d	CLIP-seq
MIRT2582927	hsa-miR-203	CLIP-seq
MIRT2582928	hsa-miR-224	CLIP-seq
MIRT2582929	hsa-miR-3591-3p	CLIP-seq
MIRT2582930	hsa-miR-3973	CLIP-seq
MIRT2582931	hsa-miR-4428	CLIP-seq
MIRT2582932	hsa-miR-4434	CLIP-seq
MIRT2582933	hsa-miR-4516	CLIP-seq
MIRT2582934	hsa-miR-4522	CLIP-seq
MIRT2582935	hsa-miR-4694-5p	CLIP-seq
MIRT2582936	hsa-miR-520g	CLIP-seq
MIRT2582937	hsa-miR-520h	CLIP-seq
MIRT2582938	hsa-miR-522	CLIP-seq
MIRT2582939	hsa-miR-607	CLIP-seq
MIRT2686582	hsa-miR-1285	CLIP-seq
MIRT2686583	hsa-miR-146a	CLIP-seq
MIRT2686584	hsa-miR-146b-5p	CLIP-seq
MIRT2686585	hsa-miR-15a	CLIP-seq
MIRT2686586	hsa-miR-15b	CLIP-seq
MIRT2686587	hsa-miR-16	CLIP-seq
MIRT2686588	hsa-miR-188-3p	CLIP-seq
MIRT2686589	hsa-miR-190	CLIP-seq
MIRT2686590	hsa-miR-190b	CLIP-seq
MIRT2686591	hsa-miR-195	CLIP-seq
MIRT2582928	hsa-miR-224	CLIP-seq
MIRT2686592	hsa-miR-23a	CLIP-seq
MIRT2686593	hsa-miR-23b	CLIP-seq
MIRT2686594	hsa-miR-23c	CLIP-seq
MIRT2686595	hsa-miR-3117-5p	CLIP-seq
MIRT2686596	hsa-miR-3180-5p	CLIP-seq
MIRT2686597	hsa-miR-3187-5p	CLIP-seq
MIRT2686598	hsa-miR-330-3p	CLIP-seq
MIRT2686599	hsa-miR-338-3p	CLIP-seq
MIRT2582929	hsa-miR-3591-3p	CLIP-seq
MIRT2686600	hsa-miR-3671	CLIP-seq
MIRT2686601	hsa-miR-3917	CLIP-seq
MIRT1194404	hsa-miR-3919	CLIP-seq
MIRT1194405	hsa-miR-3925-5p	CLIP-seq
MIRT2686602	hsa-miR-3929	CLIP-seq
MIRT2686603	hsa-miR-3935	CLIP-seq
MIRT2686604	hsa-miR-3945	CLIP-seq
MIRT2582930	hsa-miR-3973	CLIP-seq
MIRT2686605	hsa-miR-424	CLIP-seq
MIRT2686606	hsa-miR-4253	CLIP-seq
MIRT2686607	hsa-miR-4419b	CLIP-seq
MIRT2686608	hsa-miR-4478	CLIP-seq
MIRT2686609	hsa-miR-4505	CLIP-seq
MIRT1194410	hsa-miR-4530	CLIP-seq
MIRT2686610	hsa-miR-4672	CLIP-seq
MIRT2686611	hsa-miR-4797-5p	CLIP-seq
MIRT2686612	hsa-miR-497	CLIP-seq
MIRT2582936	hsa-miR-520g	CLIP-seq
MIRT2582937	hsa-miR-520h	CLIP-seq
MIRT2686613	hsa-miR-545	CLIP-seq
MIRT2686614	hsa-miR-563	CLIP-seq
MIRT2686615	hsa-miR-591	CLIP-seq
MIRT2582939	hsa-miR-607	CLIP-seq
MIRT2686616	hsa-miR-612	CLIP-seq
MIRT2686617	hsa-miR-888	CLIP-seq
MIRT2686618	hsa-miR-936	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	NAS	11112349
GO:0001764	Process	Neuron migration	IEA
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IEA
GO:0001938	Process	Positive regulation of endothelial cell proliferation	TAS	21245381
GO:0002116	Component	Semaphorin receptor complex	NAS	19909241
GO:0003148	Process	Outflow tract septum morphogenesis	IEA
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0005021	Function	Vascular endothelial growth factor receptor activity	IEA
GO:0005021	Function	Vascular endothelial growth factor receptor activity	NAS	11112349, 19909241
GO:0005021	Function	Vascular endothelial growth factor receptor activity	TAS	9331348
GO:0005515	Function	Protein binding	IPI	25752543
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	TAS
GO:0007155	Process	Cell adhesion	NAS	11112349
GO:0007399	Process	Nervous system development	IEA
GO:0007411	Process	Axon guidance	IBA
GO:0007411	Process	Axon guidance	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007411	Process	Axon guidance	NAS	19909241
GO:0007411	Process	Axon guidance	TAS
GO:0007507	Process	Heart development	IEA
GO:0008201	Function	Heparin binding	IEA
GO:0010595	Process	Positive regulation of endothelial cell migration	IEA
GO:0010595	Process	Positive regulation of endothelial cell migration	TAS	21245381
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	11112349
GO:0016020	Component	Membrane	TAS
GO:0017154	Function	Semaphorin receptor activity	IBA
GO:0017154	Function	Semaphorin receptor activity	IEA
GO:0017154	Function	Semaphorin receptor activity	NAS	11112349, 19909241
GO:0019838	Function	Growth factor binding	TAS	21245381
GO:0019955	Function	Cytokine binding	NAS	19909241
GO:0021612	Process	Facial nerve structural organization	IEA
GO:0021612	Process	Facial nerve structural organization	ISS
GO:0021637	Process	Trigeminal nerve structural organization	ISS
GO:0021649	Process	Vestibulocochlear nerve structural organization	IEA
GO:0021675	Process	Nerve development	IEA
GO:0021675	Process	Nerve development	ISS
GO:0021785	Process	Branchiomotor neuron axon guidance	ISS
GO:0021828	Process	Gonadotrophin-releasing hormone neuronal migration to the hypothalamus	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0036484	Process	Trunk neural crest cell migration	IEA
GO:0036486	Process	Ventral trunk neural crest cell migration	IEA
GO:0038023	Function	Signaling receptor activity	TAS
GO:0038084	Process	Vascular endothelial growth factor signaling pathway	IEA
GO:0042802	Function	Identical protein binding	IPI	25752543
GO:0045211	Component	Postsynaptic membrane	IBA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048846	Process	Axon extension involved in axon guidance	IEA
GO:0048846	Process	Axon extension involved in axon guidance	ISS
GO:0050919	Process	Negative chemotaxis	IEA
GO:0061549	Process	Sympathetic ganglion development	IEA
GO:0061549	Process	Sympathetic ganglion development	ISS
GO:0061551	Process	Trigeminal ganglion development	IEA
GO:0071526	Process	Semaphorin-plexin signaling pathway	IEA
GO:0071526	Process	Semaphorin-plexin signaling pathway	ISS
GO:0097374	Process	Sensory neuron axon guidance	IEA
GO:0097490	Process	Sympathetic neuron projection extension	IEA
GO:0097490	Process	Sympathetic neuron projection extension	ISS
GO:0097491	Process	Sympathetic neuron projection guidance	IEA
GO:0097491	Process	Sympathetic neuron projection guidance	ISS
GO:0098978	Component	Glutamatergic synapse	IBA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099175	Process	Regulation of postsynapse organization	IEA
GO:1901166	Process	Neural crest cell migration involved in autonomic nervous system development	IEA
GO:1903375	Process	Facioacoustic ganglion development	IEA
GO:1904835	Process	Dorsal root ganglion morphogenesis	IEA
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

Other IDs

• MIM: 602070
• HGNC: 8005
• e!Ensembl: ENSG00000118257

Protein

• UniProt ID: O60462
• Protein name: Neuropilin-2 (Vascular endothelial cell growth factor 165 receptor 2)
• Protein function: High affinity receptor for semaphorins 3C, 3F, VEGF-165 and VEGF-145 isoforms of VEGF, and the PLGF-2 isoform of PGF.; (Microbial infection) Acts as a receptor for human cytomegalovirus pentamer-dependent entry in epithelial and endoth
• PDB: 2QQJ, 2QQK, 2QQL, 2QQO, 4QDQ, 4QDR, 4QDS, 5DN2, 5DQ0, 6GH8, 6TDB, 6TJT, 7M22, 7T4S, 8IVW, 8IVX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00431	CUB	28 → 139	CUB domain	Domain
  PF00431	CUB	149 → 264	CUB domain	Domain
  PF00754	F5_F8_type_C	292 → 424	F5/8 type C domain	Domain
  PF00754	F5_F8_type_C	449 → 589	F5/8 type C domain	Domain
  PF00629	MAM	646 → 801	MAM domain, meprin/A5/mu	Domain
  PF11980	DUF3481	850 → 931	C-terminal domain of neuropilin glycoprotein	Family

• Sequence:

  MDMFPLTWVFLALYFSRHQVRGQPDPPCGGRLNSKDAGYITSPGYPQDYPSHQNCEWIVY
  APEPNQKIVLNFNPHFEIEKHDCKYDFIEIRDGDSESADLLGKHCGNIAPPTIISSGSML
  YIKFTSDYARQGAGFSLRYEIFKTGSEDCSKNFTSPNGTIESPGFPEKYPHNLDCTFTIL
  AKPKMEIILQFLIFDLEHDPLQVGEGDCKYDWLDIWDGIPHVGPLIGKYCGTKTPSELRS
  STGILSLTFHTDMAVAKDGFSARYYLVHQEPLENFQCNVPLGMESGRIANEQISASSTYS
  DGRWTPQQSRLHGDDNGWTPNLDSNKEYLQVDLRFLTMLTAIATQGAISRETQNGYYVKS
  YKLEVSTNGEDWMVYRHGKNHKVFQANNDATEVVLNKLHAPLLTRFVRIRPQTWHSGIAL
  RLELFGCRVTDAPCSNMLGMLSGLIADSQISASSTQEYLWSPSAARLVSSRSGWFPRIPQ
  AQPGEEWLQVDLGTPKTVKGVIIQGARGGDSITAVEARAFVRKFKVSYSLNGKDWEYIQD
  PRTQQPKLFEGNMHYDTPDIRRFDPIPAQYVRVYPERWSPAGIGMRLEVLGCDWTDSKPT
  VETLGPTVKSEETTTPYPTEEEATECGENCSFEDDKDLQLPSGFNCNFDFLEEPCGWMYD
  HAKWLRTTWASSSSPNDRTFPDDRNFLRLQSDSQREGQYARLISPPVHLPRSPVCMEFQY
  QATGGRGVALQVVREASQESKLLWVIREDQGGEWKHGRIILPSYDMEYQIVFEGVIGKGR
  SGEIAIDDIRISTDVPLENCMEPISAFAGENFKVDIPEIHEREGYEDEIDDEYEVDWSNS
  SSATSGSGAPSTDKEKSWLYTLDPILITIIAMSSLGVLLGATCAGLLLYCTCSYSGLSSR
  SCTTLENYNFELYDGLKHKVKMNHQKCCSEA

• Sequence length: 931

Pathways

KEGG:

Virion - Lassa virus and SFTS virus

Reactome:

Neurophilin interactions with VEGF and VEGFR

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
NRP2-related disorder	Likely pathogenic	rs779617179	RCV004748864	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung disease, susceptibility to, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	LHGDN	19088020		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28000859		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	23689123		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	20851535		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	24026530, 30483126		★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	21921738	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	30206357		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	30206357	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	25346392		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30635860, 31541021		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	17427189, 28484884, 30635860		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	LHGDN	17427189		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	17427189		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder neck obstruction	Bladder neck obstruction	BEFREE	28194441		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12659673, 15802023, 19580679, 23436775		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17912247, 19580679, 23613720, 26673618, 33396906	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22302985	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	39232098	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	22777769		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	28961428	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26573807, 37928273	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	28062852	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12412174, 12845630, 24121493, 28096505		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26026587, 27766950	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	19765808		★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	BEFREE	16006166, 16682840		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29130509		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	29130509		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	24026530, 30483126		★☆☆☆☆ Found in Text Mining only
Chronic eosinophilic leukemia	Eosinophilic Leukemia	BEFREE	17917967		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	28814881		★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	18657176		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21747928, 28742689		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18182619, 21747928, 25543087, 28742689, 31807170		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	18182619		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18182619		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21747928, 35473507	Associate	★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	18657176		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23689123, 26026587		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	24359286		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	28656251, 30806307		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	28656251, 30806307	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	21214535		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	18657176		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	19765808		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	34516335	Associate	★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	19736548		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	18657176		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	21610314	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24142150		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24142150, 26753562	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24142150		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	12730958, 18781179		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	24142150	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	19736548	Stimulate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	19736548	Stimulate	★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	19736548	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	33467687	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	22961441		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	21059704		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	18708346	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	21610314	Inhibit	★☆☆☆☆ Found in Text Mining only
Interstitial Cystitis	Interstitial Cystitis	BEFREE	18815217		★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	18657176		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	17917967		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	21059704		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	19736548		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	19736548	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	19736548	Stimulate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	31143707		★☆☆☆☆ Found in Text Mining only
Leukemia, Mast-Cell	Leukemia	BEFREE	17917967		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	17917967		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	17917967		★☆☆☆☆ Found in Text Mining only
Lipoid nephrosis	Lipoid Nephrosis	BEFREE	19736548		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28814881		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28814881		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	12845630		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	12845630, 33918816	Associate	★☆☆☆☆ Found in Text Mining only
Lymphangioma	Lymphangioma	BEFREE	31013538		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	19580679	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	25543087, 27527412, 29339213		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	39232098	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	23613720	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	25068647	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	20220060	Associate	★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	19505392		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12659673, 15802023, 19580679, 23436775		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	28656251, 30806307		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	22028766		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11717452, 12845630, 24121493, 28096505		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29631214		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22777769, 31509606		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	28602571		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19580679, 23149913, 23689123, 24142150, 24522185, 26560516, 28000859, 29229599, 30111533, 30806307		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29130509		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21747928, 28742689		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	28418877		★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	BEFREE	17917967		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	24026530, 30483126		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	24359286		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	11121133, 21324919, 21840568	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	21610314	Inhibit	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24359286, 26881875, 29227334		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	29227334	Stimulate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	21840568	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	33937395	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	17917967		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	LHGDN	17917967		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17308083, 18182619, 19409892, 19580679, 20651020, 20851535, 22028766, 23436775, 23689123, 24026530, 24121493, 25543087, 25890345, 26156437, 26881875, 27063000, 27527412, 28000859, 28742689, 28814881, 29339213, 30111533, 31257576, 31509606, 31807170		★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	19736548	Stimulate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	11815985	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12632379, 29941555		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	31257576		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	40660573	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	25890345		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29631214		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	14760080, 18307536		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	15476280, 18307536	Associate	★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	25068647		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22777769, 31509606		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	22777769		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35858551, 36930173, 37942701	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35986103	Stimulate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26026587		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	20457980		★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	40660573	Associate	★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	18657176		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	27063000		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	28602571		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34826008	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	31817940		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	26030152		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	26030152		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	18657176		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	23436775, 31235595		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31235595	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	12875971, 33918816, 33937395	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	27548144	Associate	★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	18657176		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	36172369	Associate	★☆☆☆☆ Found in Text Mining only