DLL1 (delta like canonical Notch ligand 1)

Gene

• Entrez ID: 28514
• Gene name: Delta like canonical Notch ligand 1
• Gene symbol: DLL1
• Synonyms (NCBI Gene): DELTA1, DL1, Delta, NEDBAS
• Chromosome: 6
• Chromosome location: 6q27
• Summary: DLL1 is a human homolog of the Notch Delta ligand and is a member of the delta/serrate/jagged family. It plays a role in mediating cell fate decisions during hematopoiesis. It may play a role in cell-to-cell communication. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs371262985	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant, intron variant
rs1583151308	CT>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1583152162	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001757	hsa-miR-34a-5p	Review, Luciferase reporter assay	19461653
MIRT001757	hsa-miR-34a-5p	Review, Luciferase reporter assay	19461653
MIRT004584	hsa-miR-1-3p	Review	20140609
MIRT001757	hsa-miR-34a-5p	Luciferase reporter assay	20144220
MIRT001757	hsa-miR-34a-5p	Luciferase reporter assay	14697198
MIRT017844	hsa-miR-335-5p	Microarray	18185580
MIRT001757	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23327670
MIRT001757	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23327670
MIRT001757	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23327670
MIRT001757	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23327670
MIRT731425	hsa-miR-130b-3p	Luciferase reporter assay, qRT-PCR, Western blot	28163094
MIRT731425	hsa-miR-130b-3p	Luciferase reporter assay, qRT-PCR, Western blot	28163094
MIRT736596	hsa-miR-432-5p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), qRT-PCR	33902591
MIRT731425	hsa-miR-130b-3p	Luciferase reporter assay, Western blotting	34976140
MIRT938758	hsa-miR-130a	CLIP-seq
MIRT938759	hsa-miR-130b	CLIP-seq
MIRT938760	hsa-miR-301a	CLIP-seq
MIRT938761	hsa-miR-301b	CLIP-seq
MIRT938762	hsa-miR-3666	CLIP-seq
MIRT938763	hsa-miR-4295	CLIP-seq
MIRT938764	hsa-miR-4438	CLIP-seq
MIRT938765	hsa-miR-454	CLIP-seq
MIRT938766	hsa-miR-4671-3p	CLIP-seq
MIRT938767	hsa-miR-891a	CLIP-seq
MIRT1977735	hsa-miR-214	CLIP-seq
MIRT1977736	hsa-miR-34a	CLIP-seq
MIRT1977737	hsa-miR-34c-5p	CLIP-seq
MIRT1977738	hsa-miR-3619-5p	CLIP-seq
MIRT1977739	hsa-miR-449a	CLIP-seq
MIRT1977740	hsa-miR-449b	CLIP-seq
MIRT1977741	hsa-miR-761	CLIP-seq
MIRT1977742	hsa-miR-922	CLIP-seq
MIRT2213024	hsa-miR-103a	CLIP-seq
MIRT2213025	hsa-miR-107	CLIP-seq
MIRT2213026	hsa-miR-1179	CLIP-seq
MIRT2213027	hsa-miR-1306	CLIP-seq
MIRT2213028	hsa-miR-1470	CLIP-seq
MIRT2213029	hsa-miR-148a	CLIP-seq
MIRT2213030	hsa-miR-148b	CLIP-seq
MIRT2213031	hsa-miR-151-5p	CLIP-seq
MIRT2213032	hsa-miR-151b	CLIP-seq
MIRT2213033	hsa-miR-152	CLIP-seq
MIRT2213034	hsa-miR-15a	CLIP-seq
MIRT2213035	hsa-miR-15b	CLIP-seq
MIRT2213036	hsa-miR-16	CLIP-seq
MIRT2213037	hsa-miR-195	CLIP-seq
MIRT1977735	hsa-miR-214	CLIP-seq
MIRT2213038	hsa-miR-2682	CLIP-seq
MIRT2213039	hsa-miR-3131	CLIP-seq
MIRT2213040	hsa-miR-3186-5p	CLIP-seq
MIRT1977736	hsa-miR-34a	CLIP-seq
MIRT1977737	hsa-miR-34c-5p	CLIP-seq
MIRT1977738	hsa-miR-3619-5p	CLIP-seq
MIRT2213041	hsa-miR-3664-3p	CLIP-seq
MIRT2213042	hsa-miR-3945	CLIP-seq
MIRT2213043	hsa-miR-424	CLIP-seq
MIRT2213044	hsa-miR-4260	CLIP-seq
MIRT2213045	hsa-miR-4269	CLIP-seq
MIRT2213046	hsa-miR-4291	CLIP-seq
MIRT2213047	hsa-miR-4310	CLIP-seq
MIRT2213048	hsa-miR-4433	CLIP-seq
MIRT938764	hsa-miR-4438	CLIP-seq
MIRT2213049	hsa-miR-4459	CLIP-seq
MIRT2213050	hsa-miR-4469	CLIP-seq
MIRT1977739	hsa-miR-449a	CLIP-seq
MIRT1977740	hsa-miR-449b	CLIP-seq
MIRT2213051	hsa-miR-449c	CLIP-seq
MIRT2213052	hsa-miR-4514	CLIP-seq
MIRT2213053	hsa-miR-4667-3p	CLIP-seq
MIRT2213054	hsa-miR-4692	CLIP-seq
MIRT2213055	hsa-miR-4742-5p	CLIP-seq
MIRT2213056	hsa-miR-4751	CLIP-seq
MIRT2213057	hsa-miR-4760-3p	CLIP-seq
MIRT2213058	hsa-miR-4768-3p	CLIP-seq
MIRT2213059	hsa-miR-486-3p	CLIP-seq
MIRT2213060	hsa-miR-497	CLIP-seq
MIRT2213061	hsa-miR-510	CLIP-seq
MIRT2213062	hsa-miR-611	CLIP-seq
MIRT1977741	hsa-miR-761	CLIP-seq
MIRT2213063	hsa-miR-888	CLIP-seq
MIRT1977742	hsa-miR-922	CLIP-seq
MIRT2516905	hsa-miR-3163	CLIP-seq
MIRT2516906	hsa-miR-340	CLIP-seq
MIRT2516907	hsa-miR-4282	CLIP-seq
MIRT2516908	hsa-miR-4699-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001709	Process	Cell fate determination	NAS	11581320
GO:0001756	Process	Somitogenesis	IEA
GO:0001756	Process	Somitogenesis	ISS
GO:0001757	Process	Somite specification	IEA
GO:0001947	Process	Heart looping	IEA
GO:0001947	Process	Heart looping	ISS
GO:0002085	Process	Inhibition of neuroepithelial cell differentiation	IEA
GO:0002315	Process	Marginal zone B cell differentiation	IEA
GO:0002315	Process	Marginal zone B cell differentiation	ISS
GO:0003323	Process	Type B pancreatic cell development	IEA
GO:0003323	Process	Type B pancreatic cell development	ISS
GO:0005112	Function	Notch binding	IBA
GO:0005112	Function	Notch binding	IEA
GO:0005112	Function	Notch binding	IPI	10079256, 11006133, 11823422, 23839946
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	10079256, 11823422, 15509766, 24025447, 29856955
GO:0005576	Component	Extracellular region	NAS	11823422
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	10079256
GO:0005886	Component	Plasma membrane	TAS
GO:0005912	Component	Adherens junction	IEA
GO:0005912	Component	Adherens junction	ISS
GO:0007154	Process	Cell communication	IEA
GO:0007219	Process	Notch signaling pathway	IBA
GO:0007219	Process	Notch signaling pathway	IDA	23839946
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007219	Process	Notch signaling pathway	IMP	19682396
GO:0007219	Process	Notch signaling pathway	ISS
GO:0007219	Process	Notch signaling pathway	NAS	10079256
GO:0007267	Process	Cell-cell signaling	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007368	Process	Determination of left/right symmetry	ISS
GO:0007386	Process	Compartment pattern specification	IEA
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008217	Process	Regulation of blood pressure	ISS
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	ISS
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	ISS
GO:0009954	Process	Proximal/distal pattern formation	IEA
GO:0009954	Process	Proximal/distal pattern formation	ISS
GO:0010628	Process	Positive regulation of gene expression	IDA	23839946
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0014002	Process	Astrocyte development	IEA
GO:0014002	Process	Astrocyte development	ISS
GO:0014807	Process	Regulation of somitogenesis	IEA
GO:0014807	Process	Regulation of somitogenesis	ISS
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0021510	Process	Spinal cord development	IEA
GO:0021510	Process	Spinal cord development	ISS
GO:0021688	Process	Cerebellar molecular layer formation	IEA
GO:0021688	Process	Cerebellar molecular layer formation	ISS
GO:0021693	Process	Cerebellar Purkinje cell layer structural organization	IEA
GO:0021693	Process	Cerebellar Purkinje cell layer structural organization	ISS
GO:0030097	Process	Hemopoiesis	NAS	11581320
GO:0030099	Process	Myeloid cell differentiation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030154	Process	Cell differentiation	TAS	11912004
GO:0030155	Process	Regulation of cell adhesion	IEA
GO:0030155	Process	Regulation of cell adhesion	TAS	11912004
GO:0030182	Process	Neuron differentiation	IEA
GO:0030857	Process	Negative regulation of epithelial cell differentiation	IEA
GO:0030857	Process	Negative regulation of epithelial cell differentiation	ISS
GO:0030947	Process	Regulation of vascular endothelial growth factor receptor signaling pathway	IEA
GO:0030947	Process	Regulation of vascular endothelial growth factor receptor signaling pathway	ISS
GO:0030957	Function	Tat protein binding	IPI	15509766
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032693	Process	Negative regulation of interleukin-10 production	IMP	23086448
GO:0034351	Process	Negative regulation of glial cell apoptotic process	IEA
GO:0034351	Process	Negative regulation of glial cell apoptotic process	ISS
GO:0035265	Process	Organ growth	IEA
GO:0035265	Process	Organ growth	ISS
GO:0040008	Process	Regulation of growth	IEA
GO:0040008	Process	Regulation of growth	ISS
GO:0042491	Process	Inner ear auditory receptor cell differentiation	IEA
GO:0045121	Component	Membrane raft	IEA
GO:0045121	Component	Membrane raft	ISS
GO:0045596	Process	Negative regulation of cell differentiation	IEA
GO:0045596	Process	Negative regulation of cell differentiation	ISS
GO:0045605	Process	Negative regulation of epidermal cell differentiation	IEA
GO:0045605	Process	Negative regulation of epidermal cell differentiation	ISS
GO:0045608	Process	Negative regulation of inner ear auditory receptor cell differentiation	IEA
GO:0045638	Process	Negative regulation of myeloid cell differentiation	IEA
GO:0045662	Process	Negative regulation of myoblast differentiation	IEA
GO:0045662	Process	Negative regulation of myoblast differentiation	ISS
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	ISS
GO:0045746	Process	Negative regulation of Notch signaling pathway	IBA
GO:0045747	Process	Positive regulation of Notch signaling pathway	IEA
GO:0045747	Process	Positive regulation of Notch signaling pathway	ISS
GO:0045807	Process	Positive regulation of endocytosis	IEA
GO:0045807	Process	Positive regulation of endocytosis	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046331	Process	Lateral inhibition	IEA
GO:0046331	Process	Lateral inhibition	ISS
GO:0048018	Function	Receptor ligand activity	IDA	23839946
GO:0048018	Function	Receptor ligand activity	IEA
GO:0048630	Process	Skeletal muscle tissue growth	IEA
GO:0048630	Process	Skeletal muscle tissue growth	ISS
GO:0048631	Process	Regulation of skeletal muscle tissue growth	IEA
GO:0048631	Process	Regulation of skeletal muscle tissue growth	ISS
GO:0048633	Process	Positive regulation of skeletal muscle tissue growth	IEA
GO:0048633	Process	Positive regulation of skeletal muscle tissue growth	ISS
GO:0048665	Process	Neuron fate specification	IEA
GO:0048665	Process	Neuron fate specification	ISS
GO:0048839	Process	Inner ear development	IEA
GO:0050767	Process	Regulation of neurogenesis	IEA
GO:0050767	Process	Regulation of neurogenesis	ISS
GO:0051302	Process	Regulation of cell division	IEA
GO:0051302	Process	Regulation of cell division	ISS
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060041	Process	Retina development in camera-type eye	ISS
GO:0060042	Process	Retina morphogenesis in camera-type eye	IEA
GO:0060042	Process	Retina morphogenesis in camera-type eye	ISS
GO:0060563	Process	Neuroepithelial cell differentiation	IEA
GO:0060853	Process	Notch signaling pathway involved in arterial endothelial cell fate commitment	IEA
GO:0060853	Process	Notch signaling pathway involved in arterial endothelial cell fate commitment	ISS
GO:0070161	Component	Anchoring junction	IEA
GO:0070986	Process	Left/right axis specification	IEA
GO:0072006	Process	Nephron development	IEA
GO:0072006	Process	Nephron development	ISS
GO:0072014	Process	Proximal tubule development	IEA
GO:0072070	Process	Loop of Henle development	IEA
GO:0072583	Process	Clathrin-dependent endocytosis	ISS
GO:0097009	Process	Energy homeostasis	IEA
GO:0097009	Process	Energy homeostasis	ISS
GO:0097102	Process	Endothelial tip cell fate specification	IEA
GO:0097102	Process	Endothelial tip cell fate specification	ISS
GO:0097110	Function	Scaffold protein binding	IEA
GO:0097150	Process	Neuronal stem cell population maintenance	IEA
GO:0097150	Process	Neuronal stem cell population maintenance	IEP	19682396
GO:0097150	Process	Neuronal stem cell population maintenance	ISS
GO:0098773	Process	Skin epidermis development	IEA
GO:0098773	Process	Skin epidermis development	ISS
GO:1900746	Process	Regulation of vascular endothelial growth factor signaling pathway	IEA
GO:1900746	Process	Regulation of vascular endothelial growth factor signaling pathway	ISS
GO:1903672	Process	Positive regulation of sprouting angiogenesis	IEA
GO:1903672	Process	Positive regulation of sprouting angiogenesis	ISS
GO:2000726	Process	Negative regulation of cardiac muscle cell differentiation	IEA

Other IDs

• MIM: 606582
• HGNC: 2908
• e!Ensembl: ENSG00000198719

Protein

• UniProt ID: O00548
• Protein name: Delta-like protein 1 (Drosophila Delta homolog 1) (Delta1) (H-Delta-1)
• Protein function: Transmembrane ligand protein of NOTCH1, NOTCH2 and NOTCH3 receptors that binds the extracellular domain (ECD) of Notch receptor in a cis and trans fashion manner (PubMed:11006133). Following transinteraction, ligand cells produce mechanical forc
• PDB: 4XBM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07657	MNNL	22 → 92	N terminus of Notch ligand	Family
  PF01414	DSL	159 → 221	Delta serrate ligand	Domain
  PF00008	EGF	285 → 324	EGF-like domain	Domain
  PF00008	EGF	332 → 361	EGF-like domain	Domain
  PF00008	EGF	370 → 399	EGF-like domain	Domain
  PF00008	EGF	409 → 439	EGF-like domain	Domain
  PF00008	EGF	447 → 477	EGF-like domain	Domain
  PF12661	hEGF	490 → 511	Human growth factor-like EGF	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in heart and pancreas, with lower expression in brain and muscle and almost no expression in placenta, lung, liver and kidney.
• Sequence:

  MGSRCALALAVLSALLCQVWSSGVFELKLQEFVNKKGLLGNRNCCRGGAGPPPCACRTFF
  RVCLKHYQASVSPEPPCTYGSAVTPVLGVDSFSLPDGGGADSAFSNPIRFPFGFTWPGTF
  SLIIEALHTDSPDDLATENPERLISRLATQRHLTVGEEWSQDLHSSGRTDLKYSYRFVCD
  EHYYGEGCSVFCRPRDDAFGHFTCGERGEKVCNPGWKGPYCTEPICLPGCDEQHGFCDKP
  GECKCRVGWQGRYCDECIRYPGCLHGTCQQPWQCNCQEGWGGLFCNQDLNYCTHHKPCKN
  GATCTNTGQGSYTCSCRPGYTGATCELGIDECDPSPCKNGGSCTDLENSYSCTCPPGFYG
  KICELSAMTCADGPCFNGGRCSDSPDGGYSCRCPVGYSGFNCEKKIDYCSSSPCSNGAKC
  VDLGDAYLCRCQAGFSGRHCDDNVDDCASSPCANGGTCRDGVNDFSCTCPPGYTGRNCSA
  PVSRCEHAPCHNGATCHERGHRYVCECARGYGGPNCQFLLPELPPGPAVVDLTEKLEGQG
  GPFPWVAVCAGVILVLMLLLGCAAVVVCVRLRLQKHRPPADPCRGETETMNNLANCQREK
  DISVSIIGATQIKNTNKKADFHGDHSADKNGFKARYPAVDYNLVQDLKGDDTAVRDAHSK
  RDTKCQPQGSSGEEKGTPTTLRGGEASERKRPDSGCSTSKDTKYQSVYVISEEKDECVIA
  TEV

• Sequence length: 723

Pathways

KEGG:

Endocrine resistance
Notch signaling pathway
Th1 and Th2 cell differentiation
Pathways in cancer
Chemical carcinogenesis - receptor activation
Breast cancer

Reactome:

Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
Constitutive Signaling by NOTCH1 HD Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
NOTCH3 Activation and Transmission of Signal to the Nucleus

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
DLL1-related disorder	Likely pathogenic	rs2483358646, rs762743550	RCV003397689 RCV003967302	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Pathogenic	rs2114964680	RCV002274335	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	Pathogenic; Likely pathogenic	rs868738986, rs2114958269, rs2114966765, rs1248063937, rs2483348338, rs2483347067, rs760008381, rs2483363120, rs2483351391, rs2483362657, rs2483346002, rs2483352410, rs2483347423, rs2483345536, rs2483363365, rs2483348372, rs2483357984, rs145681739, rs371262985, rs1583157635, rs1583152162, rs1583151308, rs1583158315, rs1783805590, rs1783602877	RCV001787704 RCV001814738 RCV002221820 RCV002222286 RCV002290142 RCV002465385 RCV005603781 RCV002795909 RCV003151937 RCV003326677 RCV003230254 RCV003236640 RCV003314179 RCV003335821 RCV003388683 RCV003984963 RCV004556033 RCV004594745 RCV004595163 RCV000984540 RCV000984541 RCV000984542 RCV000984543 RCV000984544 RCV001261968 RCV003759038	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Alobar holoprosencephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	ClinVar, Disgenet, Orphanet ClinVar, Disgenet, Orphanet ClinVar, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOLOPROSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly sequence	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOBAR HOLOPROSENCEPHALY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROFORM HOLOPROSENCEPHALY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIDDLE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY TRACT INFECTIOUS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMI-LOBAR HOLOPROSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMILOBAR HOLOPROSENCEPHALY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPTOPREOPTIC HOLOPROSENCEPHALY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	8338950, 8501986		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	11325643, 11380394, 11839375, 1328776, 1493438, 1648373, 1824678, 2174915, 2523429, 2529925, 2848865, 8118037, 8756082, 9375746		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27196489		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	25487926		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	11325643, 11839375, 1824678, 2523429		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alobar Holoprosencephaly	Alobar Holoprosencephaly	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alobar holoprosencephaly	Alobar Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	37980558	Associate	★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	12740597		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	24035914		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	24035914		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	23300792	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	37796367	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	11167957, 18414509		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	2136770		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	28018572, 31353024	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	GENOMICS_ENGLAND_DG	31353024		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	26568294	Associate	★☆☆☆☆ Found in Text Mining only
Benign neoplasm of brain, unspecified	Brain Neoplasms	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	15536151, 3676110		★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	15536151, 3676110		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	1654480, 1751368, 1907927, 2543592		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	CTD_human_DG	21127729		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Tumor, Primary	Brain Neoplasms	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28163094, 29366964, 30442981		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18681966, 31107884	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	36008793	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	2500532		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	7954530		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	36450256	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30005623, 8157272		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	27137215	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	28474304		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28474304		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	8820404		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	11325643, 11839375, 1824678, 2523429, 9369435		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic leukemia (category)	Leukemia	BEFREE	2492834		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	1654993		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	30005623		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome, Type I	Cockayne Syndrome	BEFREE	11980680		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10074927, 28637464		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28177944		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25487926	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	31353024		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	2147972, 2523031		★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	7954530		★☆☆☆☆ Found in Text Mining only
Coronary Artery Vasospasm	Coronary Artery Vasospasm	BEFREE	11980680		★☆☆☆☆ Found in Text Mining only
Cyclocephaly	Cyclocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30048987		★☆☆☆☆ Found in Text Mining only
Delta-Beta Thalassemia	Delta-Beta Thalassemia	BEFREE	6325696		★☆☆☆☆ Found in Text Mining only
delta-Thalassemia	Delta-Thalassemia	BEFREE	3676110		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31353024	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28177944		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17310221, 25300688		★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	BEFREE	12740597		★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	27039384		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	27039384	Associate	★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	7651730		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35848447	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	15781650		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28380416, 28859546		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	31353024		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	31353024		★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	28319044		★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	12965261		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	34519870	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	8876635		★☆☆☆☆ Found in Text Mining only
Hemoglobin F Disease	Hemoglobinopathy	BEFREE	15536151		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	LHGDN	18236070		★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	21196490		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	Pubtator	27363716	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	25734817	Stimulate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	19603167		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	8391544		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	31353024		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	31353024	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	35618095	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30407728		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	12684674		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	1907927, 2137546, 2143795, 2492834		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	37072664	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11972520, 1654480, 19639214, 2030157, 2547833, 7696934, 7947271, 8289473, 8750622		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	2030157		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	2492834, 2554994, 9379030		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27003260		★☆☆☆☆ Found in Text Mining only
Lobar Holoprosencephaly	Lobar Holoprosencephaly	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lobar holoprosencephaly	Lobar Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	36008793	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	8082298		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	11325643		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	11325643, 1830192, 8698315		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	8756082		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	8552567		★☆☆☆☆ Found in Text Mining only
Lysinuric Protein Intolerance	Lysinuric Protein Intolerance	BEFREE	10364825		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29366964, 30442981		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30005623, 8157272		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29896227		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22249198, 23085543		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22249198, 29366964, 30081298, 30442981, 8756082		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10074927		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	34857809	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	7954530		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40	Mental retardation	GENOMICS_ENGLAND_DG	31353024		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	30227160		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microform holoprosencephaly	Microform Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Midline interhemispheric variant of holoprosencephaly	Midline Interhemispheric Variant Of Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	8182927		★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	9595857		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	20561060		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	23111325		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	10464430, 9595857, 9763196		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	11972520		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	11972520, 27571714, 8182927		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	27571714	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	LHGDN	15254769		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	2137546, 8289473		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	1654480, 20413659, 2543592, 8396849		★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	1825681		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11711542, 15695120, 21752535, 21825014, 2478232, 2501027, 2523031, 2523429, 25387766, 2554994, 27939883, 30940183, 7651730, 7954530, 8157272, 8698315, 9111581		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28525978		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	28525978	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31353024		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	12965261		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	16061473		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	20460359		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28281638		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	28281638	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37796700	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29896227		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	27137215	Associate	★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	1991851		★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	BEFREE	24056535		★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	28718206		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	1493438, 2848865		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	1328776, 1493438, 2523429, 2848865, 8118037		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	10674905, 15061208, 1655121, 17133429, 1826223, 1826936, 1837811, 2147972, 2523429, 2526664, 2542699, 2547833, 2848865, 7905617, 8208530, 8219197, 8459224, 9379030		★☆☆☆☆ Found in Text Mining only
Primary malignant neoplasm of brain	Brain Neoplasms	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Recurrent Brain Neoplasm	Brain Neoplasms	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	7954530, 9111581		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	24797362		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	24797362	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	16307184		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	2154031		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	19346103, 27645107		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	1970246		★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	31353024	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	GENOMICS_ENGLAND_DG	31353024		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	31353024	Associate	★☆☆☆☆ Found in Text Mining only
Semilobar Holoprosencephaly	Semilobar Holoprosencephaly	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Semilobar holoprosencephaly	Semilobar Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septicemia	Septicemia	BEFREE	31396491		★☆☆☆☆ Found in Text Mining only
Septopreoptic holoprosencephaly	Septopreoptic Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Apnea, Central	Sleep Apnea	BEFREE	11980680		★☆☆☆☆ Found in Text Mining only
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	Fused incisors	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	27196489		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22249198, 23085543		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36071128	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	1970246		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	1830192, 8640683		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	25167871		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	15919944, 37052265	Associate	★☆☆☆☆ Found in Text Mining only