DLL4 (delta like canonical Notch ligand 4)

Gene

• Entrez ID: 54567
• Gene name: Delta like canonical Notch ligand 4
• Gene symbol: DLL4
• Synonyms (NCBI Gene): AOS6, delta4, hdelta2
• Chromosome: 15
• Chromosome location: 15q15.1
• Summary: This gene is a homolog of the Drosophila delta gene. The delta gene family encodes Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61750844	C>T	Pathogenic	Stop gained, coding sequence variant
rs796065344	C>T	Pathogenic	Coding sequence variant, stop gained
rs796065345	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs796065346	G>A	Pathogenic	Coding sequence variant, missense variant
rs796065347	T>C	Pathogenic	Coding sequence variant, missense variant
rs796065348	C>T	Pathogenic	Coding sequence variant, missense variant
rs796065349	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796065350	G>C	Pathogenic	Coding sequence variant, missense variant
rs796065351	T>C	Pathogenic	Coding sequence variant, missense variant
rs1247027543	G>A	Pathogenic	Coding sequence variant, missense variant
rs1555393027	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555393125	G>C	Pathogenic	Missense variant, coding sequence variant
rs1555393172	CGGACGACGGC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555393182	C>T	Pathogenic	Stop gained, coding sequence variant
rs1596194950	C>A	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT054328	hsa-miR-30b-5p	In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	23086751
MIRT054329	hsa-miR-30c-5p	In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	23086751
MIRT491290	hsa-miR-3943	PAR-CLIP	23592263
MIRT491289	hsa-miR-345-3p	PAR-CLIP	23592263
MIRT491288	hsa-miR-1203	PAR-CLIP	23592263
MIRT491287	hsa-miR-6125	PAR-CLIP	23592263
MIRT491286	hsa-miR-1225-3p	PAR-CLIP	23592263
MIRT491285	hsa-miR-4313	PAR-CLIP	23592263
MIRT491284	hsa-miR-4533	PAR-CLIP	23592263
MIRT491283	hsa-miR-4743-5p	PAR-CLIP	23592263
MIRT733755	hsa-miR-182-5p	Luciferase reporter assay, qRT-PCR, Western blotting	31996265
MIRT733755	hsa-miR-182-5p	Luciferase reporter assay, qRT-PCR, Western blotting	31996265
MIRT733755	hsa-miR-182-5p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), Immunofluorescence, qRT-PCR, Flow cytometry	31996265
MIRT054329	hsa-miR-30c-5p	Luciferase reporter assay, Western blotting, qRT-PCR, In situ hybridization, ELISA	33861889
MIRT054329	hsa-miR-30c-5p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), Immunofluorescence, qRT-PCR, In situ hybridization, ELISA	33861889
MIRT491290	hsa-miR-3943	PAR-CLIP	23592263
MIRT491289	hsa-miR-345-3p	PAR-CLIP	23592263
MIRT491288	hsa-miR-1203	PAR-CLIP	23592263
MIRT491287	hsa-miR-6125	PAR-CLIP	23592263
MIRT491286	hsa-miR-1225-3p	PAR-CLIP	23592263
MIRT491285	hsa-miR-4313	PAR-CLIP	23592263
MIRT491284	hsa-miR-4533	PAR-CLIP	23592263
MIRT491283	hsa-miR-4743-5p	PAR-CLIP	23592263
MIRT938768	hsa-miR-1252	CLIP-seq
MIRT938769	hsa-miR-298	CLIP-seq
MIRT938770	hsa-miR-30a	CLIP-seq
MIRT938771	hsa-miR-30b	CLIP-seq
MIRT938772	hsa-miR-30c	CLIP-seq
MIRT938773	hsa-miR-30d	CLIP-seq
MIRT938774	hsa-miR-30e	CLIP-seq
MIRT938775	hsa-miR-4476	CLIP-seq
MIRT938776	hsa-miR-4495	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SIRT1	Repression	20631301

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	ISS
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	ISS
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0001974	Process	Blood vessel remodeling	ISS
GO:0003180	Process	Aortic valve morphogenesis	IDA	26491108
GO:0003208	Process	Cardiac ventricle morphogenesis	IEA
GO:0003208	Process	Cardiac ventricle morphogenesis	ISS
GO:0003209	Process	Cardiac atrium morphogenesis	IEA
GO:0003209	Process	Cardiac atrium morphogenesis	ISS
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	IEA
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	ISS
GO:0003344	Process	Pericardium morphogenesis	IEA
GO:0003344	Process	Pericardium morphogenesis	ISS
GO:0005112	Function	Notch binding	IBA
GO:0005112	Function	Notch binding	IEA
GO:0005112	Function	Notch binding	IPI	23839946
GO:0005112	Function	Notch binding	TAS	10837024
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	24025447
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007154	Process	Cell communication	IEA
GO:0007165	Process	Signal transduction	TAS	10837024
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	IEA
GO:0007219	Process	Notch signaling pathway	ISS
GO:0007399	Process	Nervous system development	IEA
GO:0007601	Process	Visual perception	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	20616313
GO:0010596	Process	Negative regulation of endothelial cell migration	IMP	20616313
GO:0010628	Process	Positive regulation of gene expression	IDA	23839946
GO:0010628	Process	Positive regulation of gene expression	IDA	23388056, 26491108
GO:0010629	Process	Negative regulation of gene expression	IDA	23388056
GO:0016020	Component	Membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030217	Process	T cell differentiation	IEA
GO:0030217	Process	T cell differentiation	ISS
GO:0035912	Process	Dorsal aorta morphogenesis	IEA
GO:0035912	Process	Dorsal aorta morphogenesis	ISS
GO:0035924	Process	Cellular response to vascular endothelial growth factor stimulus	IMP	20616313
GO:0043537	Process	Negative regulation of blood vessel endothelial cell migration	IEA
GO:0044344	Process	Cellular response to fibroblast growth factor stimulus	IDA	20616313
GO:0045746	Process	Negative regulation of Notch signaling pathway	IBA
GO:0045746	Process	Negative regulation of Notch signaling pathway	IEA
GO:0045746	Process	Negative regulation of Notch signaling pathway	ISS
GO:0045747	Process	Positive regulation of Notch signaling pathway	IEA
GO:0045747	Process	Positive regulation of Notch signaling pathway	ISS
GO:0048018	Function	Receptor ligand activity	IDA	23839946
GO:0048018	Function	Receptor ligand activity	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048731	Process	System development	IEA
GO:0050767	Process	Regulation of neurogenesis	IEA
GO:0060579	Process	Ventral spinal cord interneuron fate commitment	IMP	17728344
GO:0061074	Process	Regulation of neural retina development	IEA
GO:0061074	Process	Regulation of neural retina development	ISS
GO:0072554	Process	Blood vessel lumenization	IEA
GO:0090051	Process	Negative regulation of cell migration involved in sprouting angiogenesis	IDA	23388056
GO:0090051	Process	Negative regulation of cell migration involved in sprouting angiogenesis	IMP	20616313
GO:1903588	Process	Negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis	IDA	23388056
GO:2000179	Process	Positive regulation of neural precursor cell proliferation	IEA
GO:2000179	Process	Positive regulation of neural precursor cell proliferation	ISS

Other IDs

• MIM: 605185
• HGNC: 2910
• e!Ensembl: ENSG00000128917

Protein

• UniProt ID: Q9NR61
• Protein name: Delta-like protein 4 (Drosophila Delta homolog 4) (Delta4)
• Protein function: Involved in the Notch signaling pathway as Notch ligand (PubMed:11134954). Activates NOTCH1 and NOTCH4. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting (PubMed:20616313). Essen
• PDB: 5MVX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07657	MNNL	27 → 89	N terminus of Notch ligand	Family
  PF01414	DSL	155 → 217	Delta serrate ligand	Domain
  PF00008	EGF	281 → 320	EGF-like domain	Domain
  PF00008	EGF	328 → 358	EGF-like domain	Domain
  PF00008	EGF	366 → 398	EGF-like domain	Domain
  PF12661	hEGF	411 → 432	Human growth factor-like EGF	Domain
  PF00008	EGF	444 → 474	EGF-like domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in vascular endothelium.
• Sequence:

  MAAASRSASGWALLLLVALWQQRAAGSGVFQLQLQEFINERGVLASGRPCEPGCRTFFRV
  CLKHFQAVVSPGPCTFGTVSTPVLGTNSFAVRDDSSGGGRNPLQLPFNFTWPGTFSLIIE
  AWHAPGDDLRPEALPPDALISKIAIQGSLAVGQNWLLDEQTSTLTRLRYSYRVICSDNYY
  GDNCSRLCKKRNDHFGHYVCQPDGNLSCLPGWTGEYCQQPICLSGCHEQNGYCSKPAECL
  CRPGWQGRLCNECIPHNGCRHGTCSTPWQCTCDEGWGGLFCDQDLNYCTHHSPCKNGATC
  SNSGQRSYTCTCRPGYTGVDCELELSECDSNPCRNGGSCKDQEDGYHCLCPPGYYGLHCE
  HSTLSCADSPCFNGGSCRERNQGANYACECPPNFTGSNCEKKVDRCTSNPCANGGQCLNR
  GPSRMCRCRPGFTGTYCELHVSDCARNPCAHGGTCHDLENGLMCTCPAGFSGRRCEVRTS
  IDACASSPCFNRATCYTDLSTDTFVCNCPYGFVGSRCEFPVGLPPSFPWVAVSLGVGLAV
  LLVLLGMVAVAVRQLRLRRPDDGSREAMNNLSDFQKDNLIPAAQLKNTNQKKELEVDCGL
  DKSNCGKQQNHTLDYNLAPGPLGRGTMPGKFPHSDKSLGEKAPLRLHSEKPECRISAICS
  PRDSMYQSVCLISEERNECVIATEV

• Sequence length: 685

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
NOTCH2 Activation and Transmission of Signal to the Nucleus
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
Adams-Oliver syndrome	Pathogenic; Likely pathogenic	rs796065350, rs796065348, rs796065351, rs796065347, rs796065346, rs796065345, rs796065344, rs61750844	RCV000190441 RCV000190439 RCV000190442 RCV000190438 RCV000190437 RCV000190436 RCV000190434 RCV000190435	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adams-Oliver syndrome 6	Likely pathogenic; Pathogenic	rs2140369593, rs796065350, rs796065348, rs796065347, rs796065346, rs796065344, rs61750844, rs2542549210, rs2542541193, rs2542541573, rs1555393027, rs1555393125, rs1247027543, rs1555393182, rs1596194950, rs1892853569, rs1373760209	RCV001775302 RCV000195289 RCV000195285 RCV000195284 RCV000195288 RCV000195286 RCV000195290 RCV003236682 RCV003991226 RCV004594934 RCV000662242 RCV000662243 RCV000662244 RCV000662234 RCV000985148 RCV001194629 RCV001526864	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DLL4-related disorder	Pathogenic; Likely pathogenic	rs796065348, rs1357715175	RCV004730899 RCV003391425	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
APLASIA CUTIS CONGENITA	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal segmental glomerulosclerosis 9	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired porencephaly	Acquired Porencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adams Oliver syndrome	Adams-Oliver Syndrome	BEFREE	26299364, 28446798, 28839276, 31813956		★☆☆☆☆ Found in Text Mining only
Adams Oliver syndrome	Adams-Oliver Syndrome	ORPHANET_DG	26299364		★☆☆☆☆ Found in Text Mining only
Adams Oliver syndrome	Adams-Oliver Syndrome	CLINVAR_DG	26299364		★☆☆☆☆ Found in Text Mining only
Adams-Oliver syndrome	Adams-Oliver Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adams-Oliver syndrome 1	Adams-Oliver Syndrome	BEFREE	26299364, 28446798, 28839276, 31813956		★☆☆☆☆ Found in Text Mining only
Adams-Oliver syndrome 1	Adams-Oliver Syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Adams-Oliver syndrome 1	Adams-Oliver Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
ADAMS-OLIVER SYNDROME 6	Adams-Oliver Syndrome	UNIPROT_DG	26299364		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ADAMS-OLIVER SYNDROME 6	Adams-Oliver Syndrome	GENOMICS_ENGLAND_DG	26299364		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ADAMS-OLIVER SYNDROME 6	Adams-Oliver Syndrome	CLINVAR_DG	29924900		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adenocarcinoma	Adenocarcinoma	BEFREE	27174628		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	25986715, 29896227		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	23300792	Associate	★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	26299364		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aplasia Cutis Congenita	Aplasia Cutis Congenita	ORPHANET_DG	26299364		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aplasia cutis congenita	Aplasia Cutis Congenita	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aplasia Cutis Congenita	Aplasia Cutis Congenita	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aplasia cutis congenita of scalp	Aplasia Cutis Congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia cutis congenita over the scalp vertex	Aplasia Cutis Congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	22699504		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	37796367	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28812183		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	22699504		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	20017807		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	32767570	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	16914569		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	16914569		★☆☆☆☆ Found in Text Mining only
Body Weight	Body weight	Pubtator	24394305	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Edema	Brain edema	Pubtator	25121357	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16501043, 22151989, 27334972, 27542210, 28923397, 31034805		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18681966, 20167860, 26472724, 27542210, 35953532, 36740988, 37993804	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	30382766		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	22066479		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	33469672	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26443326, 30660174	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	16914569		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23028940, 23275310, 30226615		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	25986715, 27755532	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23826258, 24931473	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21795478, 26377940		★☆☆☆☆ Found in Text Mining only
Castleman Disease	Castleman disease	Pubtator	34686774	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30431198		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	26546434		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	26546434		★☆☆☆☆ Found in Text Mining only
Chronic interstitial cystitis	Interstitial Cystitis	BEFREE	17698128		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30586693		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	31616059		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21193546		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	21193546		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28086833		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19844231, 26111775, 34487019	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	21193546		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital atresia of pulmonary artery	Congenital Atresia Of Pulmonary Artery	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital defect of skull and scalp	Aplasia cutis congenita	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Congenital localized absence of skin	Congenital localized absence of skin	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	16204037, 24966922		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	31813956		★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	20685674		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29606343, 30886104		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29606343, 30886104		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	26299364	Associate	★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	23787764	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	24939221		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	34564988	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	25546156		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	29749499		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	29749499		★☆☆☆☆ Found in Text Mining only
Esophageal Varices	Esophageal varix	HPO_DG			★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial cerebral cavernous malformation	Cerebral cavernous malformation	Pubtator	23388056	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	24025398		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31233801		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	27174628		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	18056450, 22296176, 28445154		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23787764, 25121357, 26472724, 33249476	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	18056450, 22296176, 23787764, 28445154		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21517260, 31443114		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	21517260	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	28319046		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	22066479		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	34859965	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	34328347	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioblastoma	Hemangioblastoma	BEFREE	27388534		★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	27542210	Inhibit	★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	26951238		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	20017807		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	22699504		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	29386132		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	26808710	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	26808710	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	16219802, 19844231, 22275240, 35765115	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34666595	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	26377940		★☆☆☆☆ Found in Text Mining only
Infantile hemangioma	Hemangioma	BEFREE	26957058		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	33436852	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Interstitial Cystitis	Interstitial Cystitis	BEFREE	17698128		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30653356		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	19816565, 19965636, 23086751, 24523441		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	12684674		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	23239744		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	23239744		★☆☆☆☆ Found in Text Mining only
Leukomalacia, Periventricular	Periventricular Leukomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	BEFREE	27542210		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25666192, 26766040, 27440153, 30205087, 30228780, 30660174		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	23275310		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26472724, 33787845	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26111775, 30593175	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26546434	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16501043, 22151989, 27334972, 27542210, 28923397, 31034805		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	29749499		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	27174628		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	16204037		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23028940, 23275310, 30226615		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21795478, 26377940		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	20182391, 29896227		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18056450		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23898884, 23901223, 27891816, 29571073, 31289587		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	16914569		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20016278, 22989420, 23200678, 23898884, 25986715, 26546434, 27542210, 27891816, 28288569, 29188408, 29246751, 29449267, 30975104, 31119445		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	26546434		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21193546		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17822320		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	27301650		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	31676012		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	24025398		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10221902, 10837024, 11585794, 12482957, 12574630, 15466159, 15466160, 15520367, 15817497, 15923152, 16773578, 17296941, 17311993, 17336907, 17728344, 19369401, 20147986, 20976243, 21092311, 23570941, 8756291, 8794055		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	20685674		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	BEFREE	24002737, 28924218		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16204037, 16914569, 17183313, 17311993, 18056450, 18577711, 19208840, 19218547, 20016278, 20182391, 21193546, 21483741, 21752535, 21795478, 22908324, 23200678, 23898884, 23901223, 24043760, 24415532, 24615277, 24966922, 25355291, 25387766, 26241546, 26377940, 27161333, 27301650, 27542210, 27891816, 27898394, 27939883, 28086833, 28288569, 28445154, 28567545, 29246751, 29449267, 29571073, 29749499, 30205087, 30228780, 30593175, 31034805, 31119445		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22002304, 23064377, 30226615, 30593175		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	34487019	Associate	★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglophonic dwarfism	Pubtator	37741572	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21795478, 26377940		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37796700	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	20182391, 29896227		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	23200678, 25986715		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19258443, 27755532	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	26241546		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	23200678		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	28599454		★☆☆☆☆ Found in Text Mining only
Porencephalic cyst	Porencephalic cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	BEFREE	23870033		★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	19208840		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	19208840, 25355291		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18056450		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	16204037		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	30607695		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	27661116	Associate	★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	30652694		★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	19816565	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15820317		★☆☆☆☆ Found in Text Mining only
Severe Aplastic Anemia	Anemia	BEFREE	24330353		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	25986715	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	22989420		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	24025398		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23898884, 23901223, 27891816, 29571073, 31289587		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23898884, 34410967, 34925644, 36071128	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	26957058		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	26443326	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	26241546	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	26241546		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	26241546	Associate	★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30848190		★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	26546434, 36973995	Associate	★☆☆☆☆ Found in Text Mining only
Varicose Veins	Varicose veins	Pubtator	26808710	Associate	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	26808710		★☆☆☆☆ Found in Text Mining only
Variegate Porphyria	Variegate Porphyria	BEFREE	23787764		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	30651639		★☆☆☆☆ Found in Text Mining only
Vascular Neoplasms	Vascular neoplasm	BEFREE	21752535		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
X-Linked Combined Immunodeficiency Diseases	Combined Immunodeficiency, X-Linked	BEFREE	30755435		★☆☆☆☆ Found in Text Mining only