ITGB4 (integrin subunit beta 4)

Gene

• Entrez ID: 3691
• Gene name: Integrin subunit beta 4
• Gene symbol: ITGB4
• Synonyms (NCBI Gene): CD104, GP150, JEB5A, JEB5B
• Chromosome: 17
• Chromosome location: 17q25.1
• Summary: Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80338755	G>A	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs121912461	T>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs121912462	C>A,T	Pathogenic	Stop gained, upstream transcript variant, coding sequence variant, synonymous variant, genic upstream transcript variant
rs121912463	T>C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs121912464	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs121912465	T>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs121912466	G>A	Pathogenic	Coding sequence variant, missense variant
rs121912467	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs121912468	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs145976111	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs147222357	G>A,T	Pathogenic	Splice donor variant
rs148770294	C>A,G,T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs752657203	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs758551913	A>G	Likely-pathogenic	Splice acceptor variant
rs762236241	T>C	Likely-pathogenic	Splice donor variant
rs772142634	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs794726676	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs886041205	->T	Pathogenic	Splice donor variant
rs1064795468	AGGGCCCTGGCTCA>-	Likely-pathogenic	Intron variant
rs1178371226	AG>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1480399395	CGGCGCTGCAACACCCAGGCGGAGCTGCTGGCC>-	Pathogenic	Inframe deletion, genic upstream transcript variant, coding sequence variant
rs1568366397	C>A	Pathogenic	Coding sequence variant, stop gained
rs1568385656	TGGC>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001362	hsa-miR-1-3p	pSILAC	18668040
MIRT018576	hsa-miR-335-5p	Microarray	18185580
MIRT020864	hsa-miR-155-5p	Proteomics	18668040
MIRT001362	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT028554	hsa-miR-30a-5p	Proteomics	18668040
MIRT031876	hsa-miR-16-5p	Proteomics	18668040
MIRT756455	hsa-miR-200c-3p	Luciferase reporter assay, Western blotting, qRT-PCR	36995683
MIRT1074155	hsa-miR-184	CLIP-seq
MIRT1074156	hsa-miR-1915	CLIP-seq
MIRT1074157	hsa-miR-205	CLIP-seq
MIRT1074158	hsa-miR-3127-3p	CLIP-seq
MIRT1074159	hsa-miR-3194-3p	CLIP-seq
MIRT1074160	hsa-miR-3200-3p	CLIP-seq
MIRT1074161	hsa-miR-3943	CLIP-seq
MIRT1074162	hsa-miR-4313	CLIP-seq
MIRT1074163	hsa-miR-4323	CLIP-seq
MIRT1074164	hsa-miR-4726-3p	CLIP-seq
MIRT1074165	hsa-miR-4768-3p	CLIP-seq
MIRT1074166	hsa-miR-665	CLIP-seq
MIRT1550311	hsa-miR-1207-5p	CLIP-seq
MIRT1550312	hsa-miR-1908	CLIP-seq
MIRT1550313	hsa-miR-3151	CLIP-seq
MIRT1550314	hsa-miR-4648	CLIP-seq
MIRT1550315	hsa-miR-4651	CLIP-seq
MIRT1550316	hsa-miR-4763-3p	CLIP-seq
MIRT1550317	hsa-miR-4787-5p	CLIP-seq
MIRT1550318	hsa-miR-486-3p	CLIP-seq
MIRT1550319	hsa-miR-608	CLIP-seq
MIRT1550320	hsa-miR-663	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ZEB1	Unknown	20729552

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001664	Function	G protein-coupled receptor binding	IPI	24851274
GO:0005178	Function	Integrin binding	IBA
GO:0005515	Function	Protein binding	IPI	2649503, 10811835, 11375975, 12482924, 19242489, 19403692, 20603614, 21880726, 24007983, 24851274, 25703379, 27178753, 32296183, 33961781, 35657344
GO:0005604	Component	Basement membrane	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005886	Component	Plasma membrane	IDA	21310825, 24851274
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	IBA
GO:0006914	Process	Autophagy	IMP	24007983
GO:0007154	Process	Cell communication	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	NAS	2311577
GO:0007160	Process	Cell-matrix adhesion	IBA
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0007160	Process	Cell-matrix adhesion	IMP	23496044
GO:0007229	Process	Integrin-mediated signaling pathway	IBA
GO:0007229	Process	Integrin-mediated signaling pathway	IEA
GO:0008305	Component	Integrin complex	IBA
GO:0008305	Component	Integrin complex	IEA
GO:0008305	Component	Integrin complex	TAS	7545057
GO:0009611	Process	Response to wounding	IDA	19403692
GO:0009925	Component	Basal plasma membrane	IEA
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IDA	19933311, 21310825
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IBA
GO:0022011	Process	Myelination in peripheral nervous system	IEA
GO:0030054	Component	Cell junction	IDA
GO:0030054	Component	Cell junction	IEA
GO:0030056	Component	Hemidesmosome	IDA	12482924
GO:0030056	Component	Hemidesmosome	IEA
GO:0031252	Component	Cell leading edge	IDA	19403692
GO:0031581	Process	Hemidesmosome assembly	IDA	12482924
GO:0031581	Process	Hemidesmosome assembly	IEA
GO:0031581	Process	Hemidesmosome assembly	IMP	23496044
GO:0031965	Component	Nuclear membrane	IDA
GO:0031994	Function	Insulin-like growth factor I binding	IDA	22351760
GO:0032290	Process	Peripheral nervous system myelin formation	IEA
GO:0033627	Process	Cell adhesion mediated by integrin	IBA
GO:0035878	Process	Nail development	IMP	23496044
GO:0038132	Function	Neuregulin binding	IDA	20682778
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043235	Component	Receptor complex	IEA
GO:0043589	Process	Skin morphogenesis	IMP	23496044
GO:0046847	Process	Filopodium assembly	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048333	Process	Mesodermal cell differentiation	IEP	23154389
GO:0048870	Process	Cell motility	IEA
GO:0048870	Process	Cell motility	IMP	19403692
GO:0061450	Process	Trophoblast cell migration	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0070161	Component	Anchoring junction	IEA
GO:0098609	Process	Cell-cell adhesion	IBA

Other IDs

• MIM: 147557
• HGNC: 6158
• e!Ensembl: ENSG00000132470

Protein

• UniProt ID: P16144
• Protein name: Integrin beta-4 (GP150) (CD antigen CD104)
• Protein function: Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility. ITGA6:ITGB4 binds to NRG1 (via EGF domain) and th
• PDB: 1QG3, 2YRZ, 3F7P, 3F7Q, 3F7R, 3FQ4, 3FSO, 3H6A, 4Q58, 4WTW, 4WTX, 6GVK, 6GVL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17205	PSI_integrin	28 → 73	Integrin plexin domain	Domain
  PF00362	Integrin_beta	125 → 370	Integrin beta chain VWA domain	Domain
  PF18372	I-EGF_1	457 → 485	Integrin beta epidermal growth factor like domain 1	Domain
  PF07974	EGF_2	543 → 573	EGF-like domain	Domain
  PF07965	Integrin_B_tail	626 → 710	Integrin beta tail domain	Domain
  PF03160	Calx-beta	979 → 1084	Calx-beta domain	Domain
  PF00041	fn3	1128 → 1208	Fibronectin type III domain	Domain
  PF00041	fn3	1221 → 1310	Fibronectin type III domain	Domain
  PF00041	fn3	1529 → 1612	Fibronectin type III domain	Domain
  PF00041	fn3	1642 → 1728	Fibronectin type III domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Integrin alpha-6/beta-4 is predominantly expressed by epithelia. Isoform beta-4D is also expressed in colon and placenta. Isoform beta-4E is also expressed in epidermis, lung, duodenum, heart, spleen and stomach.
• Sequence:

  MAGPRPSPWARLLLAALISVSLSGTLANRCKKAPVKSCTECVRVDKDCAYCTDEMFRDRR
  CNTQAELLAAGCQRESIVVMESSFQITEETQIDTTLRRSQMSPQGLRVRLRPGEERHFEL
  EVFEPLESPVDLYILMDFSNSMSDDLDNLKKMGQNLARVLSQLTSDYTIGFGKFVDKVSV
  PQTDMRPEKLKEPWPNSDPPFSFKNVISLTEDVDEFRNKLQGERISGNLDAPEGGFDAIL
  QTAVCTRDIGWRPDSTHLLVFSTESAFHYEADGANVLAGIMSRNDERCHLDTTGTYTQYR
  TQDYPSVPTLVRLLAKHNIIPIFAVTNYSYSYYEKLHTYFPVSSLGVLQEDSSNIVELLE
  EAFNRIRSNLDIRALDSPRGLRTEVTSKMFQKTRTGSFHIRRGEVGIYQVQLRALEHVDG
  THVCQLPEDQKGNIHLKPSFSDGLKMDAGIICDVCTCELQKEVRSARCSFNGDFVCGQCV
  CSEGWSGQTCNCSTGSLSDIQPCLREGEDKPCSGRGECQCGHCVCYGEGRYEGQFCEYDN
  FQCPRTSGFLCNDRGRCSMGQCVCEPGWTGPSCDCPLSNATCIDSNGGICNGRGHCECGR
  CHCHQQSLYTDTICEINYSAIHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDE
  LKRAEEVVVRCSFRDEDDDCTYSYTMEGDGAPGPNSTVLVHKKKDCPPGSFWWLIPLLLL
  LLPLLALLLLLCWKYCACCKACLALLPCCNRGHMVGFKEDHYMLRENLMASDHLDTPMLR
  SGNLKGRDVVRWKVTNNMQRPGFATHAASINPTELVPYGLSLRLARLCTENLLKPDTREC
  AQLRQEVEENLNEVYRQISGVHKLQQTKFRQQPNAGKKQDHTIVDTVLMAPRSAKPALLK
  LTEKQVEQRAFHDLKVAPGYYTLTADQDARGMVEFQEGVELVDVRVPLFIRPEDDDEKQL
  LVEAIDVPAGTATLGRRLVNITIIKEQARDVVSFEQPEFSVSRGDQVARIPVIRRVLDGG
  KSQVSYRTQDGTAQGNRDYIPVEGELLFQPGEAWKELQVKLLELQEVDSLLRGRQVRRFH
  VQLSNPKFGAHLGQPHSTTIIIRDPDELDRSFTSQMLSSQPPPHGDLGAPQNPNAKAAGS
  RKIHFNWLPPSGKPMGYRVKYWIQGDSESEAHLLDSKVPSVELTNLYPYCDYEMKVCAYG
  AQGEGPYSSLVSCRTHQEVPSEPGRLAFNVVSSTVTQLSWAEPAETNGEITAYEVCYGLV
  NDDNRPIGPMKKVLVDNPKNRMLLIENLRESQPYRYTVKARNGAGWGPEREAIINLATQP
  KRPMSIPIIPDIPIVDAQSGEDYDSFLMYSDDVLRSPSGSQRPSVSDDTGCGWKFEPLLG
  EELDLRRVTWRLPPELIPRLSASSGRSSDAEAPHGPPDDGGAGGKGGSLPRSATPGPPGE
  HLVNGRMDFAFPGSTNSLHRMTTTSAAAYGTHLSPHVPHRVLSTSSTLTRDYNSLTRSEH
  SHSTTLPRDYSTLTSVSSHDSRLTAGVPDTPTRLVFSALGPTSLRVSWQEPRCERPLQGY
  SVEYQLLNGGELHRLNIPNPAQTSVVVEDLLPNHSYVFRVRAQSQEGWGREREGVITIES
  QVHPQSPLCPLPGSAFTLSTPSAPGPLVFTALSPDSLQLSWERPRRPNGDIVGYLVTCEM
  AQGGGPATAFRVDGDSPESRLTVPGLSENVPYKFKVQARTTEGFGPEREGIITIESQDGG
  PFPQLGSRAGLFQHPLQSEYSSITTTHTSATEPFLVDGLTLGAQHLEAGGSLTRHVTQEF
  VSRTLTTSGTLSTHMDQQFFQT

• Sequence length: 1822

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Regulation of actin cytoskeleton
Cytoskeleton in muscle cells
Human papillomavirus infection
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy

Reactome:

Assembly of collagen fibrils and other multimeric structures
Laminin interactions
Syndecan interactions
Type I hemidesmosome assembly

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
Abnormality of the skin	Likely pathogenic; Pathogenic	rs777045339	RCV001814580	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer	Likely pathogenic; Pathogenic	rs201310681	RCV005931780	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa simplex 1C, localized	Pathogenic; Likely pathogenic	rs1191616106, rs762236241	RCV001391130 RCV000490437	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa, junctional 5A, intermediate	Likely pathogenic; Pathogenic	rs761952496, rs2061333185, rs777045339, rs757050033, rs201310681, rs752657203, rs1377620586, rs777636050, rs748223473, rs749217066, rs794726676, rs121912462, rs80338755, rs121912466, rs2545878890, rs121912467, rs1002936688, rs1417151403, rs2545888966, rs1568383298, rs2061536929, rs1178371226	RCV005014474 RCV002499709 RCV005014582 RCV005014618 RCV005025786 RCV004595501 RCV005021910 RCV005022020 RCV005014784 RCV005014781 RCV005025059 RCV005016271 RCV002504794 RCV002051629 RCV002051630 RCV005016272 RCV005014878 RCV005014883 RCV005014879 RCV005014938 RCV005015052 RCV002497331	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ITGB4-related disorder	Likely pathogenic; Pathogenic	rs2061428442, rs2545867555, rs1392939514	RCV003419129 RCV003402935 RCV004750389	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Junctional epidermolysis bullosa	Likely pathogenic; Pathogenic	rs121912467, rs121912468	RCV004586010 RCV005406745	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Junctional epidermolysis bullosa with pyloric atresia	Pathogenic; Likely pathogenic	rs2060771091, rs1038415538, rs1422797135, rs761952496, rs2060870463, rs2061001234, rs902551587, rs1348061804, rs1164329850, rs2061333185, rs2061355653, rs777045339, rs147222357, rs757050033, rs201310681, rs758551913, rs762236241, rs886041205, rs752657203, rs1377620586, rs777636050, rs748223473, rs749217066, rs794726676, rs121912461, rs121912462, rs80338755, rs121912463, rs121912464, rs121912465, rs1434530468, rs121912467, rs121912468, rs1002936688, rs1417151403, rs2545888966, rs1568383298, rs2061536929, rs772142634, rs545619665, rs1178371226, rs2143532950	RCV001352840 RCV001352841 RCV001352874 RCV001352875 RCV001352876 RCV001352877 RCV001352878 RCV001352879 RCV001352880 RCV001352881 RCV001352882 RCV005014582 RCV001844362 RCV001716990 RCV005025786 RCV000190599 RCV000490437 RCV002280814 RCV004786645 RCV005021910 RCV005022020 RCV005014784 RCV005014781 RCV000015852 RCV000015853 RCV000015854 RCV000015855 RCV000015856 RCV000015857 RCV000015858 RCV000015859 RCV000015860 RCV000015863 RCV000015864 RCV005014878 RCV005014883 RCV005014879 RCV005014938 RCV005015052 RCV000454275 RCV000779230 RCV002497331 RCV001580587	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Junctional epidermolysis bullosa, non-Herlitz type	Likely pathogenic	rs762236241	RCV000490437	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic	rs2545786054	RCV005934991	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic	rs2545885692	RCV005931255	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic	rs1176100000	RCV005936605	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
APLASIA CUTIS CONGENITA	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEFICIENCY OF GALACTOKINASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTODERMAL DYSPLASIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA, JUNCTIONAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA NON-HERLITZ TYPE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERMEDIATE GENERALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUNCTIONAL EPIDERMOLYSIS BULLOSA MITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOCALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOCALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA, NON-HERLITZ TYPE	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOCALIZED NON-HERLITZ JUNCTIONAL EPIDERMOLYSIS BULLOSA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple sclerosis	Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myoepithelial tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrotic syndrome	Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTHER EPIDERMOLYSIS BULLOSA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALIVARY GLAND NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ 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	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEBER-COCKAYNE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Accessory kidney	Accessory Kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	BEFREE	28327550		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	16436605		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	27107458		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	31821092		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Adult junctional epidermolysis bullosa (disorder)	Junctional Epidermolysis Bullosa	GENOMICS_ENGLAND_DG	10484780, 10792571		★☆☆☆☆ Found in Text Mining only
Adult junctional epidermolysis bullosa (disorder)	Junctional Epidermolysis Bullosa	CLINVAR_DG	10484780, 12485428		★☆☆☆☆ Found in Text Mining only
Adult junctional epidermolysis bullosa (disorder)	Junctional Epidermolysis Bullosa	UNIPROT_DG	10792571		★☆☆☆☆ Found in Text Mining only
Adult junctional epidermolysis bullosa (disorder)	Junctional Epidermolysis Bullosa	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37549144	Associate	★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	25313366	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anhydrotic Ectodermal Dysplasias	Hypohidrotic ectodermal dysplasia	CTD_human_DG	18348258		★☆☆☆☆ Found in Text Mining only
ANONYCHIA	Anonychia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	24218614		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	CTD_human_DG	18348258		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	31184804		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aplasia Cutis Congenita	Aplasia Cutis Congenita	ORPHANET_DG	31184804		★★☆☆☆ 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
Arteriosclerosis	Arteriosclerosis	BEFREE	20509141		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	20364299, 24740264, 30170608, 30636108		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	20705595, 24740264	Inhibit	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	22545078, 24740264, 35958591	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	20509141		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	29526452	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	30170608		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18550570, 25938910, 30056265, 30545011, 31833519		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22673183, 26319120, 26845172, 27763564, 34036687, 37811629, 38250718	Associate	★☆☆☆☆ Found in Text Mining only
Bullous pemphigoid	Bullous Pemphigoid	LHGDN	17515951		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31242404, 37371594	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	31602273		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	26319120	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35657344	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37603520	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27107458		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	25599535	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35305660	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	16489176, 27107458	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29218693		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	20509141		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	9741315	Associate	★☆☆☆☆ Found in Text Mining only
Cholangitis	Cholangitis	Pubtator	34545326	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	34545326	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	34545326	Stimulate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31602273		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	16007143		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22939228, 24149370		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19586553, 24149370, 30358171, 34361106, 35112314	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34414684	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	28286026		★☆☆☆☆ Found in Text Mining only
Congenital pyloric atresia	Congenital pyloric atresia	BEFREE	11328943, 29198538, 9546354		★☆☆☆☆ Found in Text Mining only
Congenital pyloric atresia	Congenital pyloric atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	18955862		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	LHGDN	18955862		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	38093364	Associate	★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	CTD_human_DG	18348258		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectropion	Ectropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	9164655		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	37737665	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis Bullosa	BEFREE	11328943, 23496044, 26817667, 9546354		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa	Epidermolysis Bullosa	LHGDN	15009117, 18348258		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa	Epidermolysis Bullosa	CTD_human_DG	18348258		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa	Epidermolysis bullosa	Pubtator	20443817, 33921969, 36578049, 9546354	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa Herpetiformis Dowling-Meara	Epidermolysis Bullosa	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Junctional	Junctional epidermolysis bullosa	Pubtator	34046686, 35921091	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Progressiva	Epidermolysis Bullosa	CTD_human_DG	7545057		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Pruriginosa	Dystrophic epidermolysis bullosa	Pubtator	36578049	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex	Epidermolysis bullosa	Pubtator	12485428	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa Simplex	Epidermolysis Bullosa Simplex	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa Simplex Kobner	Epidermolysis Bullosa	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex With Pyloric Atresia	Epidermolysis Bullosa Simplex With Pyloric Atresia	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa simplex with pyloric atresia	Epidermolysis Bullosa Simplex With Pyloric Atresia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa simplex, Ogna type	Epidermolysis Bullosa Simplex	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa with pyloric atresia	Epidermolysis Bullosa	CLINVAR_DG	10484780, 12485428		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa with pyloric atresia	Epidermolysis Bullosa	GENOMICS_ENGLAND_DG	10484780, 10792571, 10873890, 11328943		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa with pyloric atresia	Epidermolysis Bullosa	UNIPROT_DG	10873890, 11251584, 11328943, 9422533, 9546354, 9792864, 9892956		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa with pyloric atresia	Epidermolysis Bullosa	BEFREE	11251584, 11328943, 14705814, 15654962, 18779879, 18955862, 20955205, 26739954, 27607025, 7545057, 9182827, 9389789, 9422533, 9546354, 9792864		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa with pyloric atresia	Epidermolysis Bullosa	ORPHANET_DG	11328943		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa with pyloric atresia	Epidermolysis bullosa	Pubtator	15654962, 15912478, 39322060, 9182827, 9422533, 9792864	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa with pyloric atresia	Epidermolysis Bullosa	CTD_human_DG	18348258, 7545057		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)	Epidermolysis Bullosa	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	31345182, 38320632	Associate	★☆☆☆☆ Found in Text Mining only
Familial hematuria	Hematuria	BEFREE	29138824		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22496621, 24265816		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	22496621, 24265816	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22496621, 24265816		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30658712		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	38172503	Stimulate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	29138824	Associate	★☆☆☆☆ Found in Text Mining only
Herlitz Disease	Junctional epidermolysis bullosa gravis of Herlitz	BEFREE	14705814		★☆☆☆☆ Found in Text Mining only
Herlitz Disease	Junctional epidermolysis bullosa gravis of Herlitz	CTD_human_DG	7545057		★☆☆☆☆ Found in Text Mining only
Hidrotic Ectodermal Dysplasia	Hidrotic Ectodermal Dysplasia	CTD_human_DG	18348258		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intermediate generalized junctional epidermolysis bullosa	Junctional Epidermolysis Bullosa	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Atresia	Intestinal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	18955862		★☆☆☆☆ Found in Text Mining only
Junctional Epidermolysis Bullosa	Junctional Epidermolysis Bullosa	BEFREE	18779879, 20955205, 25728941, 29198538, 9182827, 9194858, 9389789		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Junctional Epidermolysis Bullosa	Junctional Epidermolysis Bullosa	CTD_human_DG	7545057		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Junctional epidermolysis bullosa with pyloric atresia	Junctional Epidermolysis Bullosa With Pyloric Atresia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Junctional split	Junctional split	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	3118989	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26996299, 28084395		★☆☆☆☆ Found in Text Mining only
Localized junctional epidermolysis bullosa	Epidermolysis Bullosa	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	LHGDN	18959757		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	18959757, 8080732	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	38131229	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25472585	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25599535	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18550570, 25938910, 30056265, 30545011, 31833519		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27107458		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29218693		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31242404		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23803695, 29059156, 29618949		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18281533, 22295105, 22427119, 24885350, 25599535, 28270621, 30658712, 30816954, 31534187, 31777592, 31843981		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	18281533		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31602273		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16965770, 18281537, 18550570, 19124484, 19138983		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29568399		★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	19151777		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	CTD_human_DG	18539642		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	19151777		★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16266989, 18550570, 26996299, 28084395, 28270621, 28580710, 30114689, 30391133, 31534187, 31602273, 31832114, 31843981		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	29526452	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	15255999	Associate	★☆☆☆☆ Found in Text Mining only
Non-Functioning Pituitary Gland Neoplasm	Pituitary adenoma	BEFREE	31832114		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26083411, 27107458, 30816954		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	27107458		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29218693		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26223322, 29218693, 32878513	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31242404		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	25599535		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	22275185, 31242404, 33073486, 36311789	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	31242404	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	31777592		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	25599535		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	LHGDN	16870608		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12168086		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20021671, 20729552	Associate	★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pyloric Atresia	Pyloric Atresia	CTD_human_DG	18348258, 7545057		★☆☆☆☆ Found in Text Mining only
Pyloric Atresia	Pyloric Atresia	BEFREE	18779879, 23496044		★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	CTD_human_DG	16762588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	29526452		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	29526452	Associate	★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	15912478, 30280950	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30280950		★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	18224668		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	24006899, 28327550		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30479571		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18224668, 24006899, 25945837, 33545567, 36076232, 37371594	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	27107458		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	25945837		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23803695, 29059156, 29618949		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25472585, 30361615	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	40157360	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	12167101		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28270621, 31534187		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	28270621	Associate	★☆☆☆☆ Found in Text Mining only
Ureterocele	Ureterocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34402716	Associate	★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Weber-Cockayne Syndrome	Epidermolysis bullosa simplex	CLINVAR_DG	10484780, 12485428		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weber-Cockayne Syndrome	Epidermolysis bullosa simplex	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations