NTRK2 (neurotrophic receptor tyrosine kinase 2)

Gene

• Entrez ID: 4915
• Gene name: Neurotrophic receptor tyrosine kinase 2
• Gene symbol: NTRK2
• Synonyms (NCBI Gene): DEE58, EIEE58, GP145-TrkB, OBHD, TRKB, trk-B
• Chromosome: 9
• Chromosome location: 9q21.33
• Summary: This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434633	A>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs886041091	A>G	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1085308029	G>T	Pathogenic	Coding sequence variant, stop gained
rs1554774973	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006434	hsa-miR-200c-3p	Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	21501518
MIRT006434	hsa-miR-200c-3p	Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	21501518
MIRT006434	hsa-miR-200c-3p	Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	21501518
MIRT019226	hsa-miR-335-5p	Microarray	18185580
MIRT053186	hsa-miR-204-5p	Luciferase reporter assay, qRT-PCR, Western blot	22892391
MIRT006434	hsa-miR-200c-3p	Immunoblot, Immunofluorescence, qRT-PCR	23209748
MIRT053186	hsa-miR-204-5p	Luciferase reporter assay, qRT-PCR, Western blot	24321270
MIRT053186	hsa-miR-204-5p	Luciferase reporter assay, qRT-PCR, Western blot	24321270
MIRT053186	hsa-miR-204-5p	Luciferase reporter assay, qRT-PCR, Western blot	24321270
MIRT053186	hsa-miR-204-5p	Luciferase reporter assay, qRT-PCR, Western blot	24321270
MIRT445027	hsa-miR-581	PAR-CLIP	22100165
MIRT445028	hsa-miR-145-3p	PAR-CLIP	22100165
MIRT445027	hsa-miR-581	PAR-CLIP	22100165
MIRT445028	hsa-miR-145-3p	PAR-CLIP	22100165
MIRT736477	hsa-miR-128-3p	qRT-PCR	33174052
MIRT737263	hsa-miR-140-3p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), qRT-PCR, Flow cytometry	32653032
MIRT445027	hsa-miR-581	PAR-CLIP	22100165
MIRT445028	hsa-miR-145-3p	PAR-CLIP	22100165
MIRT445027	hsa-miR-581	PAR-CLIP	22100165
MIRT445028	hsa-miR-145-3p	PAR-CLIP	22100165
MIRT1196215	hsa-miR-1208	CLIP-seq
MIRT1196216	hsa-miR-1237	CLIP-seq
MIRT1196217	hsa-miR-1248	CLIP-seq
MIRT1196218	hsa-miR-1254	CLIP-seq
MIRT1196219	hsa-miR-1273c	CLIP-seq
MIRT1196220	hsa-miR-149	CLIP-seq
MIRT1196221	hsa-miR-2053	CLIP-seq
MIRT1196222	hsa-miR-24	CLIP-seq
MIRT1196223	hsa-miR-3116	CLIP-seq
MIRT1196224	hsa-miR-3121-5p	CLIP-seq
MIRT1196225	hsa-miR-3152-3p	CLIP-seq
MIRT1196226	hsa-miR-3176	CLIP-seq
MIRT1196227	hsa-miR-326	CLIP-seq
MIRT1196228	hsa-miR-330-5p	CLIP-seq
MIRT1196229	hsa-miR-3662	CLIP-seq
MIRT1196230	hsa-miR-3683	CLIP-seq
MIRT1196231	hsa-miR-3922-3p	CLIP-seq
MIRT1196232	hsa-miR-4284	CLIP-seq
MIRT1196233	hsa-miR-4452	CLIP-seq
MIRT1196234	hsa-miR-4494	CLIP-seq
MIRT1196235	hsa-miR-452	CLIP-seq
MIRT1196236	hsa-miR-4659a-5p	CLIP-seq
MIRT1196237	hsa-miR-4659b-5p	CLIP-seq
MIRT1196238	hsa-miR-4676-3p	CLIP-seq
MIRT1196239	hsa-miR-4701-5p	CLIP-seq
MIRT1196240	hsa-miR-4776-3p	CLIP-seq
MIRT1196241	hsa-miR-499a-5p	CLIP-seq
MIRT1196242	hsa-miR-513a-3p	CLIP-seq
MIRT1196243	hsa-miR-513a-5p	CLIP-seq
MIRT1196244	hsa-miR-513c	CLIP-seq
MIRT1196245	hsa-miR-514b-5p	CLIP-seq
MIRT1196246	hsa-miR-541	CLIP-seq
MIRT1196247	hsa-miR-548b-3p	CLIP-seq
MIRT1196248	hsa-miR-548c-3p	CLIP-seq
MIRT1196249	hsa-miR-588	CLIP-seq
MIRT1196250	hsa-miR-593	CLIP-seq
MIRT1196251	hsa-miR-602	CLIP-seq
MIRT1196252	hsa-miR-654-5p	CLIP-seq
MIRT1196253	hsa-miR-661	CLIP-seq
MIRT1196254	hsa-miR-892a	CLIP-seq
MIRT1196255	hsa-miR-1226	CLIP-seq
MIRT1196256	hsa-miR-1305	CLIP-seq
MIRT1196257	hsa-miR-3199	CLIP-seq
MIRT1196258	hsa-miR-4513	CLIP-seq
MIRT1196259	hsa-miR-4670-3p	CLIP-seq
MIRT1196260	hsa-miR-4740-5p	CLIP-seq
MIRT1196261	hsa-miR-103a	CLIP-seq
MIRT1196262	hsa-miR-107	CLIP-seq
MIRT1196263	hsa-miR-130a	CLIP-seq
MIRT1196264	hsa-miR-130b	CLIP-seq
MIRT1196265	hsa-miR-148a	CLIP-seq
MIRT1196266	hsa-miR-148b	CLIP-seq
MIRT1196267	hsa-miR-152	CLIP-seq
MIRT1196268	hsa-miR-1825	CLIP-seq
MIRT1196269	hsa-miR-1915	CLIP-seq
MIRT1196270	hsa-miR-301a	CLIP-seq
MIRT1196271	hsa-miR-301b	CLIP-seq
MIRT1196272	hsa-miR-3187-3p	CLIP-seq
MIRT1196273	hsa-miR-329	CLIP-seq
MIRT1196274	hsa-miR-3612	CLIP-seq
MIRT1196275	hsa-miR-362-3p	CLIP-seq
MIRT1196276	hsa-miR-3666	CLIP-seq
MIRT1196277	hsa-miR-3672	CLIP-seq
MIRT1196278	hsa-miR-3685	CLIP-seq
MIRT1196279	hsa-miR-3941	CLIP-seq
MIRT1196280	hsa-miR-3944-5p	CLIP-seq
MIRT1196281	hsa-miR-4252	CLIP-seq
MIRT1196282	hsa-miR-4257	CLIP-seq
MIRT1196283	hsa-miR-4270	CLIP-seq
MIRT1196284	hsa-miR-4295	CLIP-seq
MIRT1196285	hsa-miR-4435	CLIP-seq
MIRT1196286	hsa-miR-4441	CLIP-seq
MIRT1196287	hsa-miR-4443	CLIP-seq
MIRT1196288	hsa-miR-454	CLIP-seq
MIRT1196289	hsa-miR-4661-5p	CLIP-seq
MIRT1196239	hsa-miR-4701-5p	CLIP-seq
MIRT1196290	hsa-miR-4726-3p	CLIP-seq
MIRT1196291	hsa-miR-4763-5p	CLIP-seq
MIRT1196292	hsa-miR-4786-5p	CLIP-seq
MIRT1196293	hsa-miR-502-5p	CLIP-seq
MIRT1196294	hsa-miR-548s	CLIP-seq
MIRT1196295	hsa-miR-563	CLIP-seq
MIRT1196249	hsa-miR-588	CLIP-seq
MIRT1196296	hsa-miR-603	CLIP-seq
MIRT1196297	hsa-miR-650	CLIP-seq
MIRT1196298	hsa-miR-769-5p	CLIP-seq
MIRT1196299	hsa-miR-890	CLIP-seq
MIRT1551903	hsa-miR-22	CLIP-seq
MIRT1551904	hsa-miR-3607-5p	CLIP-seq
MIRT1551905	hsa-miR-3665	CLIP-seq
MIRT1551906	hsa-miR-590-3p	CLIP-seq
MIRT1551907	hsa-miR-657	CLIP-seq
MIRT2056951	hsa-miR-1266	CLIP-seq
MIRT2056952	hsa-miR-1294	CLIP-seq
MIRT2056953	hsa-miR-204	CLIP-seq
MIRT2056954	hsa-miR-211	CLIP-seq
MIRT2056955	hsa-miR-4290	CLIP-seq
MIRT2056956	hsa-miR-4446-5p	CLIP-seq
MIRT2056957	hsa-miR-4518	CLIP-seq
MIRT2056958	hsa-miR-4710	CLIP-seq
MIRT2056959	hsa-miR-4755-5p	CLIP-seq
MIRT2056960	hsa-miR-623	CLIP-seq
MIRT2056961	hsa-miR-760	CLIP-seq
MIRT2285380	hsa-miR-199a-3p	CLIP-seq
MIRT2285381	hsa-miR-199b-3p	CLIP-seq
MIRT2285382	hsa-miR-217	CLIP-seq
MIRT2285383	hsa-miR-3129-5p	CLIP-seq
MIRT2285384	hsa-miR-4418	CLIP-seq
MIRT2285385	hsa-miR-4470	CLIP-seq
MIRT2285386	hsa-miR-4684-5p	CLIP-seq
MIRT2285387	hsa-miR-4786-3p	CLIP-seq
MIRT2285388	hsa-miR-509-3-5p	CLIP-seq
MIRT2285389	hsa-miR-509-5p	CLIP-seq
MIRT1196246	hsa-miR-541	CLIP-seq
MIRT1196252	hsa-miR-654-5p	CLIP-seq
MIRT2285390	hsa-miR-671-5p	CLIP-seq
MIRT2439095	hsa-miR-3194-3p	CLIP-seq
MIRT1551904	hsa-miR-3607-5p	CLIP-seq
MIRT2439096	hsa-miR-4650-5p	CLIP-seq
MIRT2455510	hsa-miR-1276	CLIP-seq
MIRT2455511	hsa-miR-185	CLIP-seq
MIRT2455512	hsa-miR-29a	CLIP-seq
MIRT2455513	hsa-miR-29b	CLIP-seq
MIRT2455514	hsa-miR-29c	CLIP-seq
MIRT2455515	hsa-miR-3150b-3p	CLIP-seq
MIRT2455516	hsa-miR-320a	CLIP-seq
MIRT2455517	hsa-miR-320b	CLIP-seq
MIRT2455518	hsa-miR-320c	CLIP-seq
MIRT2455519	hsa-miR-320d	CLIP-seq
MIRT2455520	hsa-miR-3937	CLIP-seq
MIRT2455521	hsa-miR-3942-3p	CLIP-seq
MIRT2455522	hsa-miR-4277	CLIP-seq
MIRT2455523	hsa-miR-4306	CLIP-seq
MIRT2455524	hsa-miR-4311	CLIP-seq
MIRT2455525	hsa-miR-4429	CLIP-seq
MIRT2455526	hsa-miR-4644	CLIP-seq
MIRT2455527	hsa-miR-4784	CLIP-seq
MIRT2455528	hsa-miR-583	CLIP-seq
MIRT2455529	hsa-miR-621	CLIP-seq
MIRT2455530	hsa-miR-658	CLIP-seq
MIRT2455531	hsa-miR-759	CLIP-seq
MIRT2455511	hsa-miR-185	CLIP-seq
MIRT2455515	hsa-miR-3150b-3p	CLIP-seq
MIRT2455523	hsa-miR-4306	CLIP-seq
MIRT2455526	hsa-miR-4644	CLIP-seq
MIRT2455527	hsa-miR-4784	CLIP-seq
MIRT2583500	hsa-miR-3647-3p	CLIP-seq
MIRT2583501	hsa-miR-4282	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001570	Process	Vasculogenesis	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0001764	Process	Neuron migration	ISS
GO:0002020	Function	Protease binding	IPI	26094765
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0005030	Function	Neurotrophin receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	17341134, 24658140, 31980649, 35384245, 35512704, 35840571
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005769	Component	Early endosome	ISS
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	15494731
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IBA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007612	Process	Learning	IEA
GO:0007612	Process	Learning	ISS
GO:0007623	Process	Circadian rhythm	IEA
GO:0007631	Process	Feeding behavior	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	ISS
GO:0010008	Component	Endosome membrane	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0010976	Process	Positive regulation of neuron projection development	IBA
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0010976	Process	Positive regulation of neuron projection development	ISS
GO:0014047	Process	Glutamate secretion	IEA
GO:0014069	Component	Postsynaptic density	IBA
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019222	Process	Regulation of metabolic process	IEA
GO:0019227	Process	Neuronal action potential propagation	IEA
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0021954	Process	Central nervous system neuron development	ISS
GO:0021987	Process	Cerebral cortex development	IEA
GO:0021987	Process	Cerebral cortex development	ISS
GO:0022011	Process	Myelination in peripheral nervous system	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030182	Process	Neuron differentiation	ISS
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0031547	Process	Brain-derived neurotrophic factor receptor signaling pathway	IEA
GO:0031547	Process	Brain-derived neurotrophic factor receptor signaling pathway	IMP	15494731
GO:0031547	Process	Brain-derived neurotrophic factor receptor signaling pathway	TAS	19036963
GO:0031901	Component	Early endosome membrane	IEA
GO:0038179	Process	Neurotrophin signaling pathway	IEA
GO:0042490	Process	Mechanoreceptor differentiation	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043087	Process	Regulation of GTPase activity	ISS
GO:0043121	Function	Neurotrophin binding	IDA	11738045
GO:0043121	Function	Neurotrophin binding	IEA
GO:0043121	Function	Neurotrophin binding	ISS
GO:0043195	Component	Terminal bouton	IEA
GO:0043197	Component	Dendritic spine	IBA
GO:0043235	Component	Receptor complex	IBA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043410	Process	Positive regulation of MAPK cascade	ISS
GO:0043524	Process	Negative regulation of neuron apoptotic process	ISS
GO:0043679	Component	Axon terminus	IBA
GO:0045202	Component	Synapse	IEA
GO:0046548	Process	Retinal rod cell development	IEA
GO:0046777	Process	Protein autophosphorylation	ISS
GO:0048403	Function	Brain-derived neurotrophic factor binding	IBA
GO:0048403	Function	Brain-derived neurotrophic factor binding	IEA
GO:0048403	Function	Brain-derived neurotrophic factor binding	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0048935	Process	Peripheral nervous system neuron development	IEA
GO:0050772	Process	Positive regulation of axonogenesis	ISS
GO:0051896	Process	Regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	TAS	19036963
GO:0051965	Process	Positive regulation of synapse assembly	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060175	Function	Brain-derived neurotrophic factor receptor activity	IBA
GO:0060175	Function	Brain-derived neurotrophic factor receptor activity	IEA
GO:0060175	Function	Brain-derived neurotrophic factor receptor activity	IMP	15494731
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0071230	Process	Cellular response to amino acid stimulus	IEA
GO:0099183	Process	Trans-synaptic signaling by BDNF, modulating synaptic transmission	IEA
GO:1902430	Process	Negative regulation of amyloid-beta formation	IGI	26094765
GO:1990416	Process	Cellular response to brain-derived neurotrophic factor stimulus	IBA
GO:2000811	Process	Negative regulation of anoikis	IEA

Other IDs

• MIM: 600456
• HGNC: 8032
• e!Ensembl: ENSG00000148053

Protein

• UniProt ID: Q16620
• Protein name: BDNF/NT-3 growth factors receptor (EC 2.7.10.1) (GP145-TrkB) (Trk-B) (Neurotrophic tyrosine kinase receptor type 2) (TrkB tyrosine kinase) (Tropomyosin-related kinase B)
• Protein function: Receptor tyrosine kinase involved in the development and the maturation of the central and the peripheral nervous systems through regulation of neuron survival, proliferation, migration, differentiation, and synapse formation and plasticity (By
• PDB: 1HCF, 1WWB, 2MFQ, 4ASZ, 4AT3, 4AT4, 4AT5, 5MO9, 8OYD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01462	LRRNT	31 → 60	Leucine rich repeat N-terminal domain	Family
  PF13855	LRR_8	91 → 150	Leucine rich repeat	Repeat
  PF16920	TPKR_C2	151 → 195	Tyrosine-protein kinase receptor C2 Ig-like domain	Domain
  PF07679	I-set	197 → 283	Immunoglobulin I-set domain	Domain
  PF07679	I-set	298 → 377	Immunoglobulin I-set domain	Domain
  PF07714	PK_Tyr_Ser-Thr	538 → 807	Protein tyrosine and serine/threonine kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform TrkB is expressed in the central and peripheral nervous system. In the central nervous system (CNS), expression is observed in the cerebral cortex, hippocampus, thalamus, choroid plexus, granular layer of the cerebellum, brain
• Sequence:

  MSSWIRWHGPAMARLWGFCWLVVGFWRAAFACPTSCKCSASRIWCSDPSPGIVAFPRLEP
  NSVDPENITEIFIANQKRLEIINEDDVEAYVGLRNLTIVDSGLKFVAHKAFLKNSNLQHI
  NFTRNKLTSLSRKHFRHLDLSELILVGNPFTCSCDIMWIKTLQEAKSSPDTQDLYCLNES
  SKNIPLANLQIPNCGLPSANLAAPNLTVEEGKSITLSCSVAGDPVPNMYWDVGNLVSKHM
  NETSHTQGSLRITNISSDDSGKQISCVAENLVGEDQDSVNLTVHFAPTITFLESPTSDHH
  WCIPFTVKGNPKPALQWFYNGAILNESKYICTKIHVTNHTEYHGCLQLDNPTHMNNGDYT
  LIAKNEYGKDEKQISAHFMGWPGIDDGANPNYPDVIYEDYGTAANDIGDTTNRSNEIPST
  DVTDKTGREHLSVYAVVVIASVVGFCLLVMLFLLKLARHSKFGMKGPASVISNDDDSASP
  LHHISNGSNTPSSSEGGPDAVIIGMTKIPVIENPQYFGITNSQLKPDTFVQHIKRHNIVL
  KRELGEGAFGKVFLAECYNLCPEQDKILVAVKTLKDASDNARKDFHREAELLTNLQHEHI
  VKFYGVCVEGDPLIMVFEYMKHGDLNKFLRAHGPDAVLMAEGNPPTELTQSQMLHIAQQI
  AAGMVYLASQHFVHRDLATRNCLVGENLLVKIGDFGMSRDVYSTDYYRVGGHTMLPIRWM
  PPESIMYRKFTTESDVWSLGVVLWEIFTYGKQPWYQLSNNEVIECITQGRVLQRPRTCPQ
  EVYELMLGCWQREPHMRKNIKGIHTLLQNLAKASPVYLDILG

• Sequence length: 822

Pathways

KEGG:

MAPK signaling pathway
Ras signaling pathway
Calcium signaling pathway
PI3K-Akt signaling pathway
Neurotrophin signaling pathway
Alcoholism

Reactome:

Activated NTRK2 signals through PLCG1
Activated NTRK2 signals through FRS2 and FRS3
NTRK2 activates RAC1

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
Developmental and epileptic encephalopathy, 58	Likely pathogenic; Pathogenic	rs886041091, rs2078136352, rs142393662	RCV000577864 RCV005623113 RCV004799452	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity, hyperphagia, and developmental delay	Pathogenic; Likely pathogenic	rs121434633, rs2078136352, rs1085308029, rs1554774973, rs142393662	RCV000009698 RCV003994794 RCV000490246 RCV000577832 RCV004799452	★★★★★ 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
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTHYMIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early onset severe obesity	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET OBESITY-HYPERPHAGIA-SEVERE DEVELOPMENTAL DELAY SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERKINESIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERKINESIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERNET ADDICTION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSION, SINGLE EPISODE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MORBID OBESITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASOPHARYNGEAL NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasm	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	other	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NTRK2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Uncertain significance	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARANOID SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECURRENT MAJOR DEPRESSIVE EPISODES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STATUS EPILEPTICUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEST SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	LHGDN	16862449		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21379385, 31245181		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	19642024, 26614346		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	16539663, 28888073	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease	Alzheimer disease	Pubtator	17200667, 20655510, 20967212, 22788679, 28498887, 31349032, 34440432, 35226190, 36170028, 36830589, 38263132	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease	Alzheimer disease	Pubtator	22710966	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amnesia	Amnesia	BEFREE	31381511		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	25484286		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	10786708		★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	15838534, 24831852, 30804742		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	LHGDN	15838534		★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial Personality Disorder	BEFREE	17200667		★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial personality disorder	Pubtator	17200667	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	21126736		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	21126736, 28550723		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	7559588	Associate	★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	Pubtator	33746583	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	28599074, 36033826, 37649101	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	BEFREE	27402815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	Pubtator	36271929, 39357189	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asymmetric Septal Hypertrophy	Septal Hypertrophy	BEFREE	28253924		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	18179783		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	20662941		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	20662941		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	20662941, 37583270, 38263132	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	CTD_human_DG	19018715		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	19018715, 21438144, 23315174		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	19488044, 23315174, 24802307, 33875800	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	21223646, 21612826	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	23315174, 26297903		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar I disorder	Bipolar Disorder	BEFREE	23315174		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	34546355	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	27458153	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	24840578		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	35905534	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28446206, 30707464		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23185507, 23209748, 26657794, 28205449, 28604807, 31638237, 34290315, 35383130, 39232183, 39340251	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35905534	Stimulate	★☆☆☆☆ Found in Text Mining only
Bruxism	Bruxism	Pubtator	34610834	Associate	★☆☆☆☆ Found in Text Mining only
Bulimia Nervosa	Bulimia	BEFREE	24831852		★☆☆☆☆ Found in Text Mining only
Bulimia Nervosa	Bulimia	Pubtator	24831852	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	39412903	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	35900506, 36229858	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	21552290	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21999199, 27456333, 27821810, 31730575	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37749450	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	27078887	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	29312563		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23312550, 24982195, 27456333, 29085074, 31245181		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	18201274	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	27456333	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	21466358, 28081338, 28604655	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	LHGDN	18293376		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	19307055		★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	24801982		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	35295612	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Child Development Deviations	Development Disorder	CTD_human_DG	15494731		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Specific	Development Disorder	CTD_human_DG	15494731		★☆☆☆☆ Found in Text Mining only
Childhood Cerebral Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Childhood Ganglioglioma	Ganglioglioma	BEFREE	29502353		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	19642024, 26614346		★☆☆☆☆ Found in Text Mining only
Clear cell adenocarcinoma of ovary	Ovarian adenocarcinoma	BEFREE	24815386		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	28888073, 36455873, 38139046	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	28888073	Inhibit	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21379385		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	28714374	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24549576, 24801982		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	21379385		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22842573, 25926053, 28591715, 29045518, 32627883, 33028922, 37686416	Associate	★☆☆☆☆ Found in Text Mining only
Complex Partial Status Epilepticus	Status Epilepticus	CTD_human_DG	8635431, 8821376		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	25633318		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	25633318		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	33666096	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	25633318		★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	27884935	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31479064		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	26410307		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	31349032	Associate	★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	28944854		★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	CTD_human_DG	19018715		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depression, Bipolar	Bipolar Disorder	BEFREE	28761093		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	19844206, 20014955, 21215389, 22609366, 25762688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	20014955, 21215389, 22609366, 26641254, 26921221, 28550723, 29186135, 29550391, 30741614, 30931847, 31660632		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	24047966, 26641254, 28752602, 34613587, 36634823	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder Major	Major depressive disorder	Pubtator	20386568	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	21223646	Inhibit	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	25027171	Stimulate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	CTD_human_DG	15494731		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	34425480, 37583270, 39540377	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36997916	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	20615547		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	31118516		★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	39412903	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	37583270	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysautonomia, Familial	Dysautonomia	BEFREE	7759111		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysthymic Disorder	Dysthymic Disorder	PSYGENET_DG	15389758		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eating Disorders	Eating Disorders	BEFREE	15838534, 15866349, 18203754, 20219210		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	24321270, 27438705		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35300713, 37686416	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	15299092, 17873329		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	17873329		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	27519317, 35300713, 37164275	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28863320, 30741614, 31070779		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	39540377	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	20228460	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	28550723, 28863320, 30926745		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	34425480	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	15494731, 27884935		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58	Epileptic encephalopathy	UNIPROT_DG	29100083		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58	Epileptic encephalopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential Tremor	Tremor	BEFREE	30723034		★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	37583270	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	31469911		★☆☆☆☆ Found in Text Mining only
Fibrillary Astrocytoma	Fibrillary Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	30503263		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	28423707		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	40527859	Associate	★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	26810070, 29502353		★☆☆☆☆ Found in Text Mining only
Ganglioneuroblastoma	Ganglioneuroblastoma	BEFREE	8264643		★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	BEFREE	8264643		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	25239601, 38191907	Associate	★☆☆☆☆ Found in Text Mining only
Gemistocytic astrocytoma	Gemistocytic Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant cell arteritis	Pubtator	25418464	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	19765683, 30341011		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	19765683, 32985274	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	20806036	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24601786, 30936198, 34041811, 34341009, 35295612, 36194351	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	CTD_human_DG	24705251		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	30066929, 30171197, 30936198, 32238360, 32665022, 33749791, 33820494, 37349135, 37503880	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	BEFREE	16702999		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Grade I Astrocytoma	Grade I Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Grand Mal Status Epilepticus	Grand Mal Status Epilepticus	CTD_human_DG	8635431, 8821376		★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	29312563		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	20655510	Inhibit	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	28888073	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	30472367		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	36033826	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	36033826	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	28870922		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	15677564	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	16487146, 18632688, 23446639, 23598407, 29932126		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	18093249	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	32493978	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	26192455	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	38188159	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	28938915	Associate	★☆☆☆☆ Found in Text Mining only
Infantile spasms syndrome	Spasms Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	39540377	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intracranial Astrocytoma	Intracranial Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Juvenile Pilocytic Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	36033826	Associate	★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	32493978	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	22911740	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia Mast Cell	Mast cell leukemia	Pubtator	9292513	Associate	★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	31498938		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	CTD_human_DG	19276553		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Little`s Disease	Spastic diplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18595003, 21421859		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	25418464	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	18595003		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	24959744	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	21466358, 23656788, 24959744, 27456333, 33963267, 36033826	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	23553831		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	20156366	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28604655, 35905534	Stimulate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	15389758, 18363858, 19844206, 20124106, 23137999, 28761093, 28831019, 30308049		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	19844206, 21438144, 22609366, 23128924, 23137999		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development	Cortical development malformation	Pubtator	12121325	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	CTD_human_DG	24705251		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	29312563		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28446206		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	28423707, 29599313		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	29312563		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23312550, 24982195, 27456333, 29085074, 31245181		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	19307055		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	15701826, 19773448		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17143529, 27438705, 27456333		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27662840		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17143529, 19307055, 19386345, 24549576, 27810139, 28650560, 29920189, 31221127, 31245181, 31268127, 31297057		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21379385		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	CTD_human_DG	19018715		★☆☆☆☆ Found in Text Mining only
Manic Disorder	Manic Disorder	CTD_human_DG	19018715		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	19642024, 26614346		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	29683819	Associate	★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	32493978	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	19844206, 20014955, 21215389, 22609366, 25762688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	20014955, 21215389, 22609366, 26641254, 26921221, 29186135, 29550391, 30741614, 30931847, 31660632		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	21126736, 24484701, 26978740, 28761093		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	34425480, 37583270	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
mixed gliomas	Glioma	CTD_human_DG	24705251		★☆☆☆☆ Found in Text Mining only
Mixed oligoastrocytoma	Oligoastrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	15389758, 19124685, 22609366, 23277131, 28550723		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	15389758, 19124685, 21438144, 22609366, 23277131		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood disorder	Pubtator	21223646, 21612826, 23277131, 24802307, 28752602	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement disorder	Pubtator	34425480, 37583270	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	27246973, 36565997	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	20656764	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	36607273	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	25892961		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	31574344		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	24297477		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11355310, 17143529, 17971243, 18382428, 19386345, 20083228, 20428771, 21379385, 21552290, 21990266, 23553831, 28423707, 29625067, 29901097, 30276762, 8264643		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10022810, 10728907, 11223544, 15637590, 18678285, 19386345, 21990266, 22892391, 25132261, 27278006, 30301369, 7559588, 8264643, 9516854, 9811468		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroblastoma	Neuroblastoma	Pubtator	10347207, 10550322, 10769746, 12808116, 15024057, 15654083, 16150056, 21128244, 21419569, 21484309, 21590687, 21990266, 23385535, 23422506, 24477561, 27456333, 29734136, 29898774, 29959561, 32149119, 32296437, 39389992, 7559588, 8264643, 9516852	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroblastoma	Neuroblastoma	CTD_human_DG	16051641		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	22659797, 33833366, 36170028, 38263132	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31429825, 31805374		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	23312550		★☆☆☆☆ Found in Text Mining only
Non-Convulsive Status Epilepticus	Nonconvulsive status epilepticus	CTD_human_DG	8635431, 8821376		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18293376, 24959744, 27456333, 29581842		★☆☆☆☆ Found in Text Mining only
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonarteritic anterior ischemic optic neuropathy (NAION)	Nonarteritic Anterior Ischemic Optic Neuropathy	BEFREE	30273053		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	15494731		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Obesity	Obesity	BEFREE	15657604, 16702999, 29216354, 31384856		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Obesity	Obesity	Pubtator	20193039, 26727462, 28012455, 28677406, 32493978, 34571524, 36997916, 37329217, 39540377	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Obesity	Obesity	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Obesity, Hyperphagia, and Developmental Delay	Obesity, Hyperphagia, And Developmental Delay	UNIPROT_DG	15494731, 27884935, 29100083		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Obesity, Hyperphagia, and Developmental Delay	Obesity, Hyperphagia, And Developmental Delay	GENOMICS_ENGLAND_DG	15494731, 16702999, 27884935		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Obesity, Hyperphagia, and Developmental Delay	Obesity, Hyperphagia, And Developmental Delay	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Obesity, Hyperphagia, and Developmental Delay	Obesity, Hyperphagia, And Developmental Delay	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	17884018		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Optic Neuropathy	Optic Neuropathy	BEFREE	30273053		★☆☆☆☆ Found in Text Mining only
Optic Neuropathy, Ischemic	Optic Neuropathy	BEFREE	30273053		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	34494934	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteolysis	Osteolysis	Pubtator	27458153	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	38484114	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	24067459	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	16815388, 35300713	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	16964397, 18201274		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	19307055		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	18201274, 24815386, 31298409	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	15701826, 19773448		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	30064387	Associate	★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	28761093		★☆☆☆☆ Found in Text Mining only
Paranoid Schizophrenia	Paranoid Schizophrenia	BEFREE	24069289, 28761093		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paranoid Schizophrenia	Paranoid Schizophrenia	PSYGENET_DG	24069289		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	26253177, 36634823	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	30723034, 30944722		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson disease	Pubtator	39412903	Stimulate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	23175149	Associate	★☆☆☆☆ Found in Text Mining only
Petit mal status	Petit Mal Status	CTD_human_DG	8635431, 8821376		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	23817572		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Pilomyxoid astrocytoma	Pilomyxoid Astrocytoma	ORPHANET_DG	23817572		★☆☆☆☆ Found in Text Mining only
Pilomyxoid astrocytoma	Pilomyxoid Astrocytoma	Orphanet			★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	22507324	Associate	★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	26410307		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17143529, 27438705, 27456333		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	11442674, 27456333	Associate	★☆☆☆☆ Found in Text Mining only
Protoplasmic astrocytoma	Protoplasmic Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	25027171	Stimulate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	28550723		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rotary Nystagmus	Rotary nystagmus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	33878706	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	22911740, 37865792	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	27145455	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	12921913, 15647480, 18253057		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	17720314, 18187310, 21795612, 25751398, 28241130		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	17720314, 24069289		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	20100784, 24802307, 38263132	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	21223646	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	25027171, 34425480	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	29059151	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	23312550, 28870922		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	29748024	Associate	★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	34425480, 37583270	Associate	★☆☆☆☆ Found in Text Mining only
Spherocytosis Type 1	Spherocytosis	Pubtator	20228460	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	31221127		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	22276165, 30641914, 38489902, 39412903	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	27810139		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	CTD_human_DG	8635431, 8821376		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus	Status Epilepticus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus, Subclinical	Status Epilepticus	CTD_human_DG	8635431, 8821376		★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27662840		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12854135	Inhibit	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23175149, 24853179, 27458153, 27662840, 35008821	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	26641254	Associate	★☆☆☆☆ Found in Text Mining only
Subependymal Giant Cell Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	20428771		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	37236546	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	33600668	Inhibit	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	23185507, 34290315	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26657794	Stimulate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	11583980	Associate	★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	15389758, 18363858, 19844206, 28831019		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	19844206, 21438144, 22609366, 23128924, 23137999		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	29989647	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	29031853		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	26192455	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	39540377	Associate	★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	ORPHANET_DG	29100083		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
West Syndrome	West Syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wilms Tumor	Wilms tumor	Pubtator	19696931	Associate	★☆☆☆☆ Found in Text Mining only