ENG (endoglin)

Gene

• Entrez ID: 2022
• Gene name: Endoglin
• Gene symbol: ENG
• Synonyms (NCBI Gene): END, HHT1, ORW1
• Chromosome: 9
• Chromosome location: 9q34.11
• Summary: This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high aff

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs267606783	A>C,G	Pathogenic	Initiator codon variant, missense variant, genic upstream transcript variant
rs368423516	C>G,T	Likely-benign, pathogenic	Genic upstream transcript variant, 5 prime UTR variant
rs369596004	C>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs755348996	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs773334730	G>A,C	Likely-pathogenic	Intron variant
rs878853658	T>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs878853659	C>T	Pathogenic-likely-pathogenic, pathogenic	Splice acceptor variant
rs1060501408	G>A	Pathogenic	5 prime UTR variant, genic upstream transcript variant
rs1060501418	T>C,G	Likely-pathogenic, pathogenic	Initiator codon variant, genic upstream transcript variant, missense variant
rs1252348200	C>A,T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1554812252	C>G	Pathogenic	Intron variant
rs1554812253	C>T	Pathogenic	Splice donor variant
rs1554812283	GCTG>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1554813783	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1554813788	A>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1564462765	C>T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs1564462827	G>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs1564466393	TGGCCAGCAGC>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1564466414	A>G	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1588596830	C>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1588596879	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1588604603	GTCCATGCTGTCCACG>-	Likely-pathogenic	5 prime UTR variant, initiator codon variant, frameshift variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT032385	hsa-let-7b-5p	Proteomics	18668040
MIRT493966	hsa-miR-4781-5p	PAR-CLIP	23592263
MIRT493965	hsa-miR-6823-5p	PAR-CLIP	23592263
MIRT493964	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT493963	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT493962	hsa-miR-658	PAR-CLIP	23592263
MIRT493961	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT493960	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT493959	hsa-miR-25-5p	PAR-CLIP	23592263
MIRT493958	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT493957	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT493956	hsa-miR-3180	PAR-CLIP	23592263
MIRT493955	hsa-miR-3180-3p	PAR-CLIP	23592263
MIRT493954	hsa-miR-3196	PAR-CLIP	23592263
MIRT493953	hsa-miR-6816-5p	PAR-CLIP	23592263
MIRT493952	hsa-miR-1228-5p	PAR-CLIP	23592263
MIRT731363	hsa-miR-342-5p	Luciferase reporter assay	26857067
MIRT731363	hsa-miR-342-5p	Luciferase reporter assay	26857067
MIRT493966	hsa-miR-4781-5p	PAR-CLIP	23592263
MIRT493965	hsa-miR-6823-5p	PAR-CLIP	23592263
MIRT493964	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT493963	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT493962	hsa-miR-658	PAR-CLIP	23592263
MIRT493961	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT493960	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT493959	hsa-miR-25-5p	PAR-CLIP	23592263
MIRT493958	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT493957	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT493956	hsa-miR-3180	PAR-CLIP	23592263
MIRT493955	hsa-miR-3180-3p	PAR-CLIP	23592263
MIRT493954	hsa-miR-3196	PAR-CLIP	23592263
MIRT493953	hsa-miR-6816-5p	PAR-CLIP	23592263
MIRT493952	hsa-miR-1228-5p	PAR-CLIP	23592263
MIRT963476	hsa-miR-31	CLIP-seq
MIRT963477	hsa-miR-3126-5p	CLIP-seq
MIRT963478	hsa-miR-3151	CLIP-seq
MIRT963479	hsa-miR-3545-5p	CLIP-seq
MIRT963480	hsa-miR-3688-5p	CLIP-seq
MIRT963481	hsa-miR-4447	CLIP-seq
MIRT963482	hsa-miR-4472	CLIP-seq
MIRT963483	hsa-miR-4527	CLIP-seq
MIRT963484	hsa-miR-4651	CLIP-seq
MIRT963485	hsa-miR-4664-5p	CLIP-seq
MIRT963486	hsa-miR-491-5p	CLIP-seq
MIRT963487	hsa-miR-608	CLIP-seq
MIRT1548340	hsa-miR-331-3p	CLIP-seq
MIRT1548341	hsa-miR-4421	CLIP-seq
MIRT1548342	hsa-miR-4722-3p	CLIP-seq
MIRT1985579	hsa-miR-1236	CLIP-seq
MIRT1985580	hsa-miR-1285	CLIP-seq
MIRT1985581	hsa-miR-1587	CLIP-seq
MIRT1985582	hsa-miR-296-5p	CLIP-seq
MIRT1985583	hsa-miR-3187-5p	CLIP-seq
MIRT1985584	hsa-miR-378g	CLIP-seq
MIRT1985585	hsa-miR-4486	CLIP-seq
MIRT1985586	hsa-miR-4492	CLIP-seq
MIRT1985587	hsa-miR-4498	CLIP-seq
MIRT1985588	hsa-miR-4505	CLIP-seq
MIRT1985589	hsa-miR-4656	CLIP-seq
MIRT1985590	hsa-miR-4675	CLIP-seq
MIRT1985591	hsa-miR-4741	CLIP-seq
MIRT1985592	hsa-miR-4753-3p	CLIP-seq
MIRT1985593	hsa-miR-612	CLIP-seq
MIRT1985594	hsa-miR-762	CLIP-seq
MIRT1985595	hsa-miR-942	CLIP-seq
MIRT2523829	hsa-miR-1207-3p	CLIP-seq
MIRT2523830	hsa-miR-1228	CLIP-seq
MIRT2523831	hsa-miR-1321	CLIP-seq
MIRT2523832	hsa-miR-1825	CLIP-seq
MIRT2523833	hsa-miR-1915	CLIP-seq
MIRT2523834	hsa-miR-1976	CLIP-seq
MIRT2523835	hsa-miR-214	CLIP-seq
MIRT2523836	hsa-miR-3202	CLIP-seq
MIRT2523837	hsa-miR-3619-5p	CLIP-seq
MIRT2523838	hsa-miR-370	CLIP-seq
MIRT2523839	hsa-miR-377	CLIP-seq
MIRT2523840	hsa-miR-3921	CLIP-seq
MIRT2523841	hsa-miR-4251	CLIP-seq
MIRT2523842	hsa-miR-4264	CLIP-seq
MIRT2523843	hsa-miR-4329	CLIP-seq
MIRT2523844	hsa-miR-4419a	CLIP-seq
MIRT2523845	hsa-miR-4467	CLIP-seq
MIRT2523846	hsa-miR-4510	CLIP-seq
MIRT2523847	hsa-miR-4650-5p	CLIP-seq
MIRT2523848	hsa-miR-4653-5p	CLIP-seq
MIRT2523849	hsa-miR-4690-5p	CLIP-seq
MIRT2523850	hsa-miR-4726-3p	CLIP-seq
MIRT2523851	hsa-miR-4739	CLIP-seq
MIRT2523852	hsa-miR-4747-5p	CLIP-seq
MIRT2523853	hsa-miR-4756-5p	CLIP-seq
MIRT2523854	hsa-miR-4757-5p	CLIP-seq
MIRT2523855	hsa-miR-622	CLIP-seq
MIRT2523856	hsa-miR-761	CLIP-seq
MIRT2523857	hsa-miR-767-3p	CLIP-seq
MIRT2523858	hsa-miR-885-3p	CLIP-seq
MIRT2523829	hsa-miR-1207-3p	CLIP-seq
MIRT2523830	hsa-miR-1228	CLIP-seq
MIRT2523832	hsa-miR-1825	CLIP-seq
MIRT2523833	hsa-miR-1915	CLIP-seq
MIRT2523834	hsa-miR-1976	CLIP-seq
MIRT2523838	hsa-miR-370	CLIP-seq
MIRT2523839	hsa-miR-377	CLIP-seq
MIRT2523842	hsa-miR-4264	CLIP-seq
MIRT2523845	hsa-miR-4467	CLIP-seq
MIRT1985585	hsa-miR-4486	CLIP-seq
MIRT2680044	hsa-miR-4649-5p	CLIP-seq
MIRT2523850	hsa-miR-4726-3p	CLIP-seq
MIRT2680045	hsa-miR-4731-5p	CLIP-seq
MIRT2523855	hsa-miR-622	CLIP-seq
MIRT2523857	hsa-miR-767-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ERG	Activation	22235125
ERG	Unknown	19359602
SP1	Activation	21146604

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	18974388
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	ISS	8194490
GO:0001570	Process	Vasculogenesis	IBA
GO:0001570	Process	Vasculogenesis	IEA
GO:0001570	Process	Vasculogenesis	IMP	7894484
GO:0001666	Process	Response to hypoxia	IDA	18156205
GO:0001937	Process	Negative regulation of endothelial cell proliferation	IMP	18974388
GO:0001947	Process	Heart looping	IEA
GO:0001947	Process	Heart looping	ISS	8194490
GO:0002040	Process	Sprouting angiogenesis	ISS
GO:0003084	Process	Positive regulation of systemic arterial blood pressure	IMP	18974388
GO:0003148	Process	Outflow tract septum morphogenesis	IEA
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003198	Process	Epithelial to mesenchymal transition involved in endocardial cushion formation	IEA
GO:0003198	Process	Epithelial to mesenchymal transition involved in endocardial cushion formation	ISS
GO:0003203	Process	Endocardial cushion morphogenesis	IEA
GO:0003203	Process	Endocardial cushion morphogenesis	ISS
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:0003273	Process	Cell migration involved in endocardial cushion formation	IEA
GO:0004888	Function	Transmembrane signaling receptor activity	NAS	18974388
GO:0005114	Function	Type II transforming growth factor beta receptor binding	IPI	12015308
GO:0005114	Function	Type II transforming growth factor beta receptor binding	ISS	8294451
GO:0005515	Function	Protein binding	IPI	9872992, 15702480, 20856203, 22940691, 23868260, 28564608, 31540324
GO:0005534	Function	Galactose binding	IDA	3262645
GO:0005539	Function	Glycosaminoglycan binding	IDA	3262645
GO:0005539	Function	Glycosaminoglycan binding	ISS	8294451
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	19004009
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006355	Process	Regulation of DNA-templated transcription	IMP	15702480
GO:0007155	Process	Cell adhesion	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	18223685
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	12015308, 18223685
GO:0007507	Process	Heart development	IEA
GO:0009897	Component	External side of plasma membrane	IDA	1537377
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IDA	18223685
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	ISS
GO:0010665	Process	Regulation of cardiac muscle cell apoptotic process	ISS
GO:0015026	Function	Coreceptor activity	IDA	18223685
GO:0015026	Function	Coreceptor activity	IPI	12015308
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IMP	18223685
GO:0016604	Component	Nuclear body	IDA
GO:0017015	Process	Regulation of transforming growth factor beta receptor signaling pathway	IDA	15702480
GO:0022009	Process	Central nervous system vasculogenesis	IMP	7894484
GO:0022617	Process	Extracellular matrix disassembly	IMP	18223685
GO:0030155	Process	Regulation of cell adhesion	TAS	11382917
GO:0030336	Process	Negative regulation of cell migration	IDA	19736306
GO:0030509	Process	BMP signaling pathway	TAS	11382917
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	TAS	11382917
GO:0030513	Process	Positive regulation of BMP signaling pathway	IDA	17068149
GO:0030546	Function	Signaling receptor activator activity	IDA	12015308
GO:0034713	Function	Type I transforming growth factor beta receptor binding	IPI	12015308, 18974388
GO:0034713	Function	Type I transforming growth factor beta receptor binding	ISS	8294451
GO:0035912	Process	Dorsal aorta morphogenesis	IEA
GO:0035912	Process	Dorsal aorta morphogenesis	ISS
GO:0036122	Function	BMP binding	IPI	9872992
GO:0042060	Process	Wound healing	IMP	18223685
GO:0042127	Process	Regulation of cell population proliferation	TAS	11382917
GO:0042802	Function	Identical protein binding	IPI	28564608
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	8370410
GO:0043235	Component	Receptor complex	IPI	9872992
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	18974388
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:0048185	Function	Activin binding	TAS	11382917
GO:0048745	Process	Smooth muscle tissue development	IEA
GO:0048745	Process	Smooth muscle tissue development	ISS	8194490
GO:0048844	Process	Artery morphogenesis	IEA
GO:0048844	Process	Artery morphogenesis	ISS	8194490
GO:0048845	Process	Venous blood vessel morphogenesis	IEA
GO:0048845	Process	Venous blood vessel morphogenesis	ISS	8194490
GO:0048870	Process	Cell motility	IMP	18223685
GO:0050431	Function	Transforming growth factor beta binding	IEA
GO:0050431	Function	Transforming growth factor beta binding	IPI	9872992
GO:0050431	Function	Transforming growth factor beta binding	IPI	1326540, 8370410
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IGI	26857067
GO:0055009	Process	Atrial cardiac muscle tissue morphogenesis	IEA
GO:0055009	Process	Atrial cardiac muscle tissue morphogenesis	ISS
GO:0060326	Process	Cell chemotaxis	IMP	18223685
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	12015308
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IMP	18974388
GO:0060392	Process	Negative regulation of SMAD protein signal transduction	IMP	18974388
GO:0070483	Process	Detection of hypoxia	IDA	18156205
GO:0072563	Component	Endothelial microparticle	IEA
GO:0090500	Process	Endocardial cushion to mesenchymal transition	ISS
GO:0097084	Process	Vascular associated smooth muscle cell development	IEA
GO:0097084	Process	Vascular associated smooth muscle cell development	ISS
GO:1905007	Process	Positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	IEA
GO:1905007	Process	Positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS
GO:1905065	Process	Positive regulation of vascular associated smooth muscle cell differentiation	IEA
GO:1905065	Process	Positive regulation of vascular associated smooth muscle cell differentiation	ISS
GO:1905222	Process	Atrioventricular canal morphogenesis	IEA
GO:1905222	Process	Atrioventricular canal morphogenesis	ISS
GO:1905310	Process	Regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis	ISS
GO:2000136	Process	Regulation of cell proliferation involved in heart morphogenesis	ISS

Other IDs

• MIM: 131195
• HGNC: 3349
• e!Ensembl: ENSG00000106991

Protein

• UniProt ID: P17813
• Protein name: Endoglin (CD antigen CD105)
• Protein function: Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:21737454, PubMed:23300529). Required for normal structure and integrity of adult vasculature (PubMed:7894484). Regulates the migration of va
• PDB: 5HZV, 5HZW, 5I04
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00100	Zona_pellucida	363 → 563	Zona pellucida-like domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected on umbilical veil endothelial cells (PubMed:10625079). Detected in placenta (at protein level) (PubMed:1692830). Detected on endothelial cells (PubMed:1692830). {ECO:0000269|PubMed:10625079, ECO:0000269|PubMed:1692830}.
• Sequence:

  MDRGTLPLAVALLLASCSLSPTSLAETVHCDLQPVGPERGEVTYTTSQVSKGCVAQAPNA
  ILEVHVLFLEFPTGPSQLELTLQASKQNGTWPREVLLVLSVNSSVFLHLQALGIPLHLAY
  NSSLVTFQEPPGVNTTELPSFPKTQILEWAAERGPITSAAELNDPQSILLRLGQAQGSLS
  FCMLEASQDMGRTLEWRPRTPALVRGCHLEGVAGHKEAHILRVLPGHSAGPRTVTVKVEL
  SCAPGDLDAVLILQGPPYVSWLIDANHNMQIWTTGEYSFKIFPEKNIRGFKLPDTPQGLL
  GEARMLNASIVASFVELPLASIVSLHASSCGGRLQTSPAPIQTTPPKDTCSPELLMSLIQ
  TKCADDAMTLVLKKELVAHLKCTITGLTFWDPSCEAEDRGDKFVLRSAYSSCGMQVSASM
  ISNEAVVNILSSSSPQRKKVHCLNMDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVS
  PSVSEFLLQLDSCHLDLGPEGGTVELIQGRAAKGNCVSLLSPSPEGDPRFSFLLHFYTVP
  IPKTGTLSCTVALRPKTGSQDQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAF
  LIGALLTAALWYIYSHTRSPSKREPVVAVAAPASSESSSTNHSIGSTQSTPCSTSSMA

• Sequence length: 658

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
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs2131873923, rs965119099, rs2131887701, rs113930974, rs886039505, rs2131889336, rs2131889490, rs2131918332, rs1554809106, rs1564462834, rs2131890509, rs2131936480, rs763992842, rs1554812252, rs2131877148, rs2131889169, rs2131886797, rs2131875808, rs2131885751, rs373842615, rs112809381, rs2131879372, rs2539064456, rs1554810510, rs2539077901, rs2539078164, rs2539126528, rs2539083090, rs2539082926, rs2539064376, rs2539077878, rs2539064352, rs878853657, rs2539064322, rs1370852588, rs199675436, rs1830619692, rs2468533185, rs2539076020, rs2539077822, rs2539064228, rs751778614, rs2539075914, rs2539077773, rs2539077593, rs1588583488, rs2131889572, rs2539076166, rs2539076160, rs2539075870, rs1829096099, rs2539073270, rs2539073111, rs1588582594, rs2539073321, rs2539073294, rs1269885083, rs2539072936, rs2539072924, rs2539072930, rs2539072906, rs2539107650, rs1830596596, rs2539074209, rs2539073850, rs2539074422, rs2539074394, rs2539074102, rs2539073237, rs2539059977, rs2539059682, rs778594104, rs2539107399, rs369202854, rs2539072627, rs2539059724, rs2539059739, rs2539059208, rs2539056673, rs989537576, rs112972846, rs111694746, rs2539061224, rs2539071301, rs2539059836, rs2539071297, rs2539063240, rs2539063234, rs2539059906, rs2539071073, rs2539059288, rs2539059011, rs1554809228, rs2539083336, rs2539083269, rs2539070978, rs2539070936, rs1588580782, rs2539083284, rs2539070874, rs1830547696, rs2539070801, rs2539083228, rs2539070821, rs863223539, rs863223538, rs863223543, rs863223542, rs863223536, rs863223540, rs863223535, rs863223537, rs863223534, rs863223532, rs864622666, rs878853659, rs2539070883, rs886039506, rs886041325, rs886041326, rs2539107148, rs2539077645, rs2539072710, rs1564457752, rs267606783, rs2539056864, rs1057521648, rs1060501410, rs1554810257, rs1060501414, rs1060501408, rs1060501417, rs1060501418, rs1064794218, rs1064793734, rs1064795636, rs1064794219, rs1131691444, rs1131691931, rs1554810051, rs1554810378, rs1554809268, rs1554809450, rs1554810490, rs1554809361, rs761353511, rs1554812283, rs1554813783, rs1554809448, rs1554810177, rs1554812253, rs763475207, rs1554810272, rs1554809513, rs1329127701, rs1452543778, rs1554809363, rs1554810932, rs1564452075, rs1564452685, rs1564453619, rs1564453019, rs121918400, rs1564455715, rs1564466414, rs1564452747, rs1564453538, rs1252348200, rs1434169817, rs1335718486, rs1564462765, rs1588574749, rs1588577016, rs1588581785, rs1588581880, rs1588581902, rs1588581961, rs1588582695, rs1588582870, rs1588582962, rs1588585997, rs1343053876, rs1588582666, rs1830384910, rs1830385077, rs1830579035, rs1243079862, rs148475405, rs1830345215, rs1830432717, rs1830599423, rs1830377451, rs1830717066, rs1830383454, rs1830395639, rs1830431553, rs1482440395, rs1830580093, rs1830620247, rs1830302008	RCV002404909 RCV002395875 RCV002404897 RCV002341830 RCV002456608 RCV002359157 RCV003365452 RCV002425077 RCV002397756 RCV005831970 RCV002334719 RCV002361083 RCV002449534 RCV002423216 RCV002386858 RCV002352744 RCV002386800 RCV004990546 RCV002434618 RCV002371992 RCV002324714 RCV002454766 RCV002337620 RCV002454847 RCV002373135 RCV002333647 RCV002452225 RCV002452226 RCV002375655 RCV002320587 RCV002455204 RCV002331870 RCV002328414 RCV002328449 RCV002328550 RCV002335160 RCV002349710 RCV002353988 RCV002335931 RCV002355990 RCV002353842 RCV002342133 RCV002342195 RCV002344834 RCV002360429 RCV002356197 RCV002339914 RCV002340857 RCV002344335 RCV002344336 RCV002344338 RCV002353112 RCV002353153 RCV002368982 RCV002361563 RCV002412580 RCV002373667 RCV002362284 RCV002412523 RCV002430271 RCV002378665 RCV002378859 RCV002378870 RCV002378899 RCV002378931 RCV002385295 RCV002377958 RCV002384922 RCV002421435 RCV002364822 RCV002364834 RCV002396451 RCV002445882 RCV002391997 RCV002390043 RCV002392350 RCV002405785 RCV002382786 RCV002382809 RCV002389616 RCV002389764 RCV002403501 RCV002399206 RCV002385440 RCV002385442 RCV002385443 RCV002385444 RCV002385472 RCV002385795 RCV002396801 RCV002405361 RCV002380682 RCV002380858 RCV002394344 RCV002392394 RCV002400933 RCV002414544 RCV002406084 RCV002459638 RCV002452971 RCV002421682 RCV002428330 RCV002428362 RCV002426133 RCV002452797 RCV002428851 RCV002440245 RCV002437473 RCV002439860 RCV002408863 RCV002399723 RCV002390515 RCV002390514 RCV002381667 RCV002415836 RCV005831561 RCV002345703 RCV002327036 RCV002453717 RCV002363031 RCV002327101 RCV002365173 RCV003177425 RCV002450790 RCV002436090 RCV002401973 RCV002418102 RCV003306807 RCV003358447 RCV004371729 RCV004018638 RCV002433460 RCV004523346 RCV002392990 RCV002379438 RCV002365629 RCV002348305 RCV002379437 RCV002451097 RCV002418369 RCV002402392 RCV002436531 RCV002446937 RCV002376871 RCV002341166 RCV002455955 RCV002431448 RCV002367686 RCV002404320 RCV002404321 RCV002383980 RCV002341195 RCV002384020 RCV002384003 RCV005831615 RCV002367727 RCV002384068 RCV002377026 RCV004992329 RCV002420376 RCV002395314 RCV002377025 RCV002367790 RCV002323931 RCV006342422 RCV002385994 RCV003352949 RCV002463727 RCV002388194 RCV002331335 RCV002386207 RCV005328362 RCV002424652 RCV002442411 RCV002388311 RCV002369965 RCV002388247 RCV002386313 RCV002370008 RCV002397524 RCV002397646 RCV002332587 RCV002422749 RCV002406773 RCV002397682 RCV002386384 RCV002360987 RCV002352402 RCV004029062 RCV002453812 RCV002382238 RCV002400180 RCV005550088 RCV002454251 RCV002393222 RCV002393333 RCV002379579 RCV002411604 RCV002365717 RCV002339393 RCV002402652 RCV002402581 RCV002365938 RCV002356911 RCV002451499 RCV002402730 RCV002375222 RCV002436910 RCV002393674 RCV002393677 RCV004035394 RCV002375316 RCV002402804 RCV002339701 RCV002411932	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebral arteriovenous malformation	Pathogenic	rs1554810174	RCV000656327	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ENG-related disorder	Likely pathogenic; Pathogenic	rs778594104, rs1588580782, rs863223539, rs863223538, rs1554810510, rs878853657, rs2131918332, rs2539059099, rs2539059621, rs2539059661, rs1060501414, rs1064794219, rs1131691422, rs1554810378, rs1554810490, rs1554810936, rs1554810928, rs1329127701, rs1554810405, rs1564452075, rs1564453619, rs1588576923, rs1588582870, rs1830579035, rs1830431553, rs1482440395	RCV003408025 RCV003984260 RCV004752789 RCV003907720 RCV004753584 RCV003422129 RCV003391423 RCV003412503 RCV003394405 RCV003947301 RCV003392278 RCV004752908 RCV003392321 RCV004551628 RCV004730966 RCV004730967 RCV004730978 RCV003424095 RCV004730991 RCV004753000 RCV003411600 RCV004731034 RCV004731040 RCV003405288 RCV003405470 RCV004753257	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Haemorrhagic telangiectasia 1	Likely pathogenic; Pathogenic	rs373842615	RCV000149883	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary hemorrhagic telangiectasia	Likely pathogenic; Pathogenic	rs1830432884, rs2131887851, rs2131895129, rs2131873923, rs2131873933, rs2131875912, rs965119099, rs1329127701, rs2131887087, rs2131887701, rs1554810272, rs2131889044, rs2131889054, rs113930974, rs2131890631, rs2131890702, rs886039505, rs1588583640, rs2131918640, rs2131889336, rs2131889490, rs2131918332, rs2131885848, rs1554809106, rs1564462834, rs2131887716, rs2131890509, rs2131936480, rs778594104, rs2131887114, rs2131877041, rs927607049, rs2131885883, rs763992842, rs2131894927, rs1554812252, rs2131879372, rs1830376644, rs2131886942, rs2131876244, rs2131877148, rs372807542, rs2131885976, rs2131879220, rs2131887737, rs1830432509, rs2131887155, rs1588581902, rs2131889169, rs112809381, rs2131886094, rs2131875783, rs2131875524, rs2131890746, rs2131889284, rs2131886797, rs2131875808, rs2131885751, rs373842615, rs730880096, rs2539082926, rs2539064376, rs2539064352, rs2468533185, rs751778614, rs1588583488, rs2539076160, rs2539075870, rs1829096099, rs2539073270, rs1588582594, rs2539073294, rs2539107650, rs2539107399, rs369202854, rs2539056673, rs111694746, rs2539071297, rs2539063240, rs2539063234, rs2539083336, rs2539083228, rs1554809253, rs2539060865, rs2539072864, rs112972846, rs2539073079, rs754136153, rs2539107437, rs2539060956, rs1830384847, rs2539082925, rs2539076078, rs2539061007, rs1564452667, rs2539063954, rs2539107064, rs2539059240, rs2539061045, rs863223539, rs863223538, rs863223541, rs863223543, rs863223542, rs863223536, rs863223540, rs863223537, rs863223534, rs863223532, rs1554810510, rs2539077908, rs2539072820, rs2539072878, rs2539073130, rs2539072683, rs2539083201, rs2539073125, rs1831079386, rs2539064198, rs2539077729, rs2539076056, rs2539107745, rs2539071106, rs2539072708, rs864622666, rs878853657, rs878853659, rs878853658, rs886039506, rs886041325, rs886041326, rs886042916, rs2539071312, rs370554511, rs2539077738, rs2539075688, rs1434169817, rs1271981862, rs2539078181, rs1564466393, rs2539126528, rs2539064327, rs2539083352, rs2539074005, rs2539072629, rs2539126370, rs2539072710, rs2539073045, rs2539126206, rs2539074167, rs2539059969, rs2539072755, rs2539071090, rs2539083217, rs121918400, rs2131875838, rs1564457752, rs121918402, rs2539063296, rs2539074028, rs1554810177, rs1057521648, rs1060501421, rs1060501413, rs1060501422, rs1060501419, rs1060501410, rs1060501412, rs1554810257, rs1060501414, rs1060501408, rs1064792934, rs1060501417, rs1060501418, rs1064794218, rs1064793889, rs1064793734, rs1064794219, rs1064794220, rs1085307433, rs1131691422, rs1131691444, rs1131691931, rs1554810051, rs1554810378, rs1554809228, rs1554809268, rs1554809450, rs1554810232, rs1554810490, rs1554813788, rs1554810936, rs1197761705, rs111471193, rs1554809361, rs761353511, rs1554812283, rs1554813783, rs1554809448, rs1554809446, rs1554809455, rs1554809516, rs1554810215, rs1554810928, rs1554810921, rs1554812253, rs267606783, rs1554809229, rs763475207, rs1554810041, rs1554809513, rs1060501420, rs1554810405, rs1554809355, rs1452543778, rs1554809348, rs1554809363, rs1554810932, rs1554809331, rs774429348, rs1554810174, rs1564452075, rs1564452685, rs1564453619, rs1564455554, rs1564455604, rs12042, rs369596004, rs1564453019, rs1564455715, rs1564456374, rs773334730, rs1564466414, rs1564452747, rs1564453538, rs1440769928, rs1252348200, rs1564452759, rs1564455970, rs1335718486, rs1564462765, rs1588574749, rs997074986, rs1588576923, rs1588577016, rs1588580782, rs1588581338, rs1588581785, rs1588581867, rs1588581880, rs1588581961, rs1588582695, rs1588582870, rs1588582962, rs1588583530, rs1588585880, rs1588585941, rs1588585997, rs1588596879, rs1588604603, rs1588580932, rs1588582860, rs1588596830, rs1830375228, rs1830384447, rs1830384910, rs1830385077, rs1830432773, rs1830579035, rs1243079862, rs1830599875, rs1830620321, rs1830620889, rs1830345043, rs1830579577, rs537154767, rs1830580547, rs1830620832, rs148475405, rs1830345215, rs1830432717, rs752331196, rs1830579764, rs1830599423, rs1831082433, rs863223535, rs1830345505, rs1830375325, rs1830377451, rs1830385865, rs1830399696, rs1830596596, rs1830603743, rs1830717066, rs1830425406, rs1830601036, rs1830601919, rs1830423993, rs1830395639, rs774943840, rs1482440395, rs1830569662, rs1830580093, rs1830620247, rs1830713927, rs1831081460, rs1830302008	RCV001343795 RCV001369206 RCV001377783 RCV001390809 RCV001388266 RCV001389534 RCV001388267 RCV001387664 RCV001389737 RCV001380339 RCV001388923 RCV001383206 RCV001386403 RCV001387969 RCV001391026 RCV001386593 RCV001390952 RCV003759051 RCV001859351 RCV001533004 RCV001869459 RCV001885245 RCV002541358 RCV002541392 RCV002542422 RCV005095313 RCV003594167 RCV001869863 RCV001966153 RCV001948999 RCV001999783 RCV001872700 RCV001878459 RCV001884462 RCV001992074 RCV001992088 RCV001982664 RCV001966971 RCV001953920 RCV001975130 RCV001980286 RCV002027402 RCV002000103 RCV001894937 RCV001994491 RCV002009785 RCV001933577 RCV001994886 RCV002020601 RCV001909060 RCV001969846 RCV001947022 RCV001947061 RCV002044980 RCV001863683 RCV001979778 RCV002012464 RCV003096217 RCV000791417 RCV005089770 RCV003099610 RCV003775864 RCV003094714 RCV003594224 RCV003759144 RCV003994427 RCV005096756 RCV005096848 RCV003759146 RCV003098234 RCV003594243 RCV003103343 RCV003759648 RCV003103594 RCV005097565 RCV003759685 RCV003759659 RCV003594270 RCV003594256 RCV003096932 RCV005097412 RCV003594254 RCV003098852 RCV003594298 RCV003058234 RCV003062233 RCV003062234 RCV003062235 RCV003061568 RCV002619236 RCV002625890 RCV002820784 RCV002806751 RCV002828202 RCV002835067 RCV002861791 RCV002863386 RCV002867200 RCV002866688 RCV002884971 RCV002876820 RCV002899929 RCV000553924 RCV000791433 RCV002517174 RCV001853140 RCV000551278 RCV001056962 RCV002229104 RCV000702018 RCV005089995 RCV000695516 RCV002877287 RCV002938213 RCV002979308 RCV002972348 RCV003010274 RCV003013178 RCV003013250 RCV002991773 RCV003025084 RCV003059185 RCV003043180 RCV003032989 RCV003055698 RCV003059747 RCV003055996 RCV001041455 RCV000231233 RCV001388235 RCV002229651 RCV001034674 RCV000791375 RCV001855056 RCV003593947 RCV000793525 RCV003594703 RCV003594704 RCV003594956 RCV003595077 RCV003593582 RCV003593374 RCV003593375 RCV003593376 RCV003593378 RCV003593379 RCV003593809 RCV003594367 RCV003594501 RCV003759954 RCV003760992 RCV003760943 RCV003761099 RCV003758298 RCV003758350 RCV003758349 RCV003758412 RCV003759201 RCV003759256 RCV003847856 RCV003593860 RCV003593861 RCV001851903 RCV001212827 RCV005103167 RCV003994637 RCV003994736 RCV003994764 RCV000808225 RCV000458266 RCV000466746 RCV002230340 RCV002230338 RCV000791420 RCV002230776 RCV000470200 RCV000458484 RCV000463117 RCV003153609 RCV002230779 RCV002230780 RCV002526559 RCV003758787 RCV000530282 RCV000693436 RCV000526610 RCV000792337 RCV001385796 RCV001206848 RCV002524049 RCV002524092 RCV000633131 RCV001049940 RCV002231189 RCV001212134 RCV001035356 RCV000534162 RCV001377784 RCV001217385 RCV005054203 RCV005054202 RCV001219462 RCV003758805 RCV005091252 RCV001851484 RCV002231261 RCV002231260 RCV002231259 RCV002231258 RCV002231035 RCV002231264 RCV002231262 RCV002231271 RCV002231267 RCV002231265 RCV000547239 RCV002231266 RCV002231031 RCV000539445 RCV002231256 RCV002231270 RCV000547986 RCV001034649 RCV002231033 RCV001383868 RCV002232238 RCV002233947 RCV002234425 RCV002233949 RCV000633145 RCV002233943 RCV002528861 RCV002234421 RCV002536312 RCV000703950 RCV000685219 RCV002233161 RCV002233635 RCV002233393 RCV000692398 RCV002233364 RCV002233257 RCV000686208 RCV002232930 RCV000694887 RCV002233447 RCV002233171 RCV002232818 RCV002232923 RCV000701307 RCV000705970 RCV002233534 RCV000693521 RCV002233337 RCV002232948 RCV001383205 RCV001062873 RCV003594026 RCV003594025 RCV000806747 RCV000819516 RCV000796406 RCV000792733 RCV000819037 RCV000823308 RCV000803704 RCV000805303 RCV000801178 RCV000813454 RCV000793316 RCV000807195 RCV000810183 RCV000821161 RCV000795117 RCV000799971 RCV000821650 RCV000824049 RCV000823009 RCV000807334 RCV000817651 RCV000814719 RCV000821165 RCV000819340 RCV000820521 RCV001383204 RCV002549132 RCV001217648 RCV001044486 RCV001071539 RCV001059287 RCV001044982 RCV001069205 RCV001059848 RCV001067548 RCV001052196 RCV001068930 RCV001057195 RCV001039709 RCV001059724 RCV001045837 RCV001041801 RCV001862689 RCV001215435 RCV001221010 RCV001217268 RCV001224827 RCV001217745 RCV001203720 RCV001209139 RCV001206664 RCV001213256 RCV001213125 RCV001206409 RCV001206775 RCV001219028 RCV001230568 RCV001231653 RCV001233754 RCV001229717 RCV001235601 RCV001225902 RCV001238767 RCV001232142 RCV001246195 RCV001239030 RCV001247904 RCV001236499 RCV002537646 RCV003594125 RCV001880054 RCV001880033 RCV001880032 RCV005094258 RCV001390951 RCV001880053 RCV001880031 RCV003594127 RCV003759041	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile polyposis syndrome	Pathogenic	rs112809381	RCV005863555	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic; Likely pathogenic	rs112972846	RCV005931892 RCV005930406	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oral cavity telangiectasia	Pathogenic	rs1554809253	RCV000626751	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic; Likely pathogenic	rs111694746, rs112972846	RCV005931893 RCV005930313 RCV005930407	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Palate telangiectasia	Pathogenic	rs1554809253	RCV000626751	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary arterial hypertension	Pathogenic; Likely pathogenic	rs886039506, rs374644720, rs1588573831	RCV001003750 RCV001003748 RCV001003749	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	Pathogenic	rs1085307435, rs1085307434, rs1085307433, rs1085307432, rs1085307430	RCV000488618 RCV000488489 RCV000488597 RCV000488464 RCV000488603	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary arteriovenous malformation	Pathogenic	rs1554809253	RCV000626751	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary hypertension, primary, 1	Pathogenic	rs1085307436	RCV000488791	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spontaneous, recurrent epistaxis	Pathogenic	rs1554809253	RCV000626751	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Telangiectasia of the skin	Pathogenic	rs1554809253	RCV000626751	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Telangiectasia, hereditary hemorrhagic, type 1	Likely pathogenic; Pathogenic	rs2131876244, rs2131889336, rs2131895111, rs2131879343, rs2131889572, rs2131889490, rs2131918332, rs1085307431, rs2131885848, rs2131890499, rs1554809106, rs1554809228, rs778594104, rs2131875808, rs2131886908, rs2131875686, rs1446116085, rs760001916, rs2131885751, rs373842615, rs730880096, rs2539078164, rs369202854, rs2539107590, rs111694746, rs112972846, rs2539107437, rs2539060956, rs863223538, rs863223542, rs863223536, rs863223540, rs864622666, rs2539076176, rs878853657, rs878853659, rs886039505, rs886039506, rs1564455554, rs370554511, rs2539126528, rs2539072755, rs121918400, rs2131886961, rs2131875838, rs1564457752, rs267606783, rs121918401, rs121918402, rs1057521648, rs1060501410, rs1060501414, rs1060501408, rs1060501418, rs1064795636, rs1064794219, rs1064794220, rs1085307432, rs2539064493, rs1131691422, rs1131691444, rs1131691931, rs1554810378, rs1554809450, rs1554810490, rs1554810249, rs1554813783, rs1554809516, rs1554810215, rs1554810510, rs763475207, rs1554810272, rs1329127701, rs1554810037, rs1554810066, rs1554810506, rs1554809363, rs1554810408, rs1564453019, rs1564455715, rs1564452747, rs1252348200, rs1564452060, rs1434169817, rs1335718486, rs1564462765, rs1588581846, rs1588577016, rs1588581902, rs1588582695, rs1588583488, rs1588596879, rs1588580932, rs1588582594, rs1343053876, rs1588581497, rs1588582666, rs1588582860, rs1060501417, rs1588596830, rs1830384910, rs1830385077, rs1554809448, rs1830345043, rs537154767, rs1830579577, rs148475405, rs1831082433, rs1830423993, rs1830377451, rs1554809253, rs1830383454, rs1830384514, rs1830384577, rs1830385549, rs1830395639, rs1830397703, rs774943840, rs1830431553, rs1830434079, rs1830566817, rs1482440395, rs1830569401, rs1830569662, rs1830580093, rs1830580607, rs1830580925, rs1564455970, rs1830595697, rs1830599119, rs1830619692, rs1830620247, rs1830624241, rs1830713927, rs1830715784, rs1179814153, rs1831081460, rs1831082309, rs1829096099, rs1829096531, rs1830302008, rs1830376644	RCV002225135 RCV005620316 RCV001730109 RCV001775351 RCV001801298 RCV001803481 RCV001803568 RCV001803611 RCV001802294 RCV001802641 RCV002482336 RCV003120720 RCV005253990 RCV005638353 RCV002225172 RCV002225226 RCV002236394 RCV002273053 RCV003138147 RCV000679898 RCV000157221 RCV003120905 RCV005620318 RCV004594644 RCV002466923 RCV004594664 RCV005870012 RCV005045002 RCV005233020 RCV000229345 RCV001286561 RCV005089996 RCV000234034 RCV000205417 RCV003120157 RCV002494618 RCV000232191 RCV000274164 RCV000545627 RCV003485873 RCV003484561 RCV006255903 RCV004796837 RCV000018148 RCV000018149 RCV000018150 RCV000018151 RCV000018153 RCV000018154 RCV000018156 RCV003988969 RCV002225104 RCV000462769 RCV001803764 RCV001262048 RCV000469330 RCV005230947 RCV001287654 RCV002481510 RCV001263064 RCV005638375 RCV001002195 RCV000999934 RCV005252926 RCV000500817 RCV000512687 RCV001263082 RCV001262068 RCV000018155 RCV005001990 RCV000525562 RCV003319369 RCV003989113 RCV005231031 RCV005638350 RCV000530058 RCV000545314 RCV000535261 RCV000614819 RCV001285345 RCV000664305 RCV005231284 RCV005049661 RCV002285403 RCV001285575 RCV001803945 RCV001287705 RCV003989119 RCV000756074 RCV001263078 RCV001262053 RCV000790624 RCV001262050 RCV002470989 RCV001254073 RCV001002467 RCV001262058 RCV001263085 RCV001262066 RCV001000406 RCV001001118 RCV001000933 RCV001000381 RCV001000405 RCV001000992 RCV001263071 RCV001803223 RCV001286216 RCV001286214 RCV001172494 RCV001262074 RCV001262072 RCV001262055 RCV001286215 RCV002225129 RCV001262056 RCV001262054 RCV001262052 RCV001262051 RCV001263072 RCV001263069 RCV001263068 RCV001263067 RCV001263066 RCV001263063 RCV001262091 RCV001262090 RCV001262088 RCV001263080 RCV001263079 RCV001262077 RCV001262076 RCV001262075 RCV001262071 RCV001262070 RCV001262069 RCV001262067 RCV001262038 RCV001262065 RCV001263077 RCV001263084 RCV001263083 RCV001263076 RCV001263074 RCV001263073 RCV001262062 RCV001262060 RCV001262057 RCV001263070 RCV001262063 RCV001263081 RCV001289606 RCV001289855 RCV001287270	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs2131918332, rs997074986	RCV005932767 RCV005931490 RCV005902080	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIOVENOUS HEMANGIOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIOVENOUS MALFORMATIONS, CEREBRAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC FIBROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL CEREBRAL SACCULAR ANEURYSM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Galloway-Mowat syndrome 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERITABLE PULMONARY ARTERIAL HYPERTENSION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRACRANIAL ANEURYSM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRACRANIAL ARTERIOVENOUS MALFORMATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile Polyposis	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moyamoya disease 2	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Papillary renal cell carcinoma type 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension associated with congenital heart disease	Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Systemic lupus erythematosus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TELANGIECTASIA, HEREDITARY HEMORRHAGIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESICOURETERAL REFLUX	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acoustic Neuroma	Acoustic Neuroma	BEFREE	31313389		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	28351936		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	17572488, 28351936		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	10815930		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	23893879		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	30022838		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	LHGDN	17852832		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	26318657		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANEURYSM, INTRACRANIAL BERRY, 1 (disorder)	Intracranial Aneurysm	ORPHANET_DG	19299629		★☆☆☆☆ Found in Text Mining only
Anomalous pulmonary artery	Anomalous Pulmonary Artery	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	25986715		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	28420669		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28379034, 28901429, 31406054		★☆☆☆☆ Found in Text Mining only
Arteriovenous malformation of liver	Hepatic arteriovenous malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	10702408, 16155196, 18673552, 19508727, 26041630, 29048420, 31510822, 32503579, 32847536, 39939156, 8728706	Associate	★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	12843319, 12920067	Stimulate	★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations, Cerebral	Cerebral arteriovenous malformation	BEFREE	10625079, 10702408, 11062290, 16470787, 24323303		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arteriovenous Malformations, Cerebral	Cerebral arteriovenous malformation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	9498020	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	12009077	Stimulate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	16733295, 28901429, 34602076	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28379034, 28901429, 31406054		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29689494		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	23893879		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	20098615, 28420669		★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	20098615	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	GENOMICS_ENGLAND_DG	14684682		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	16861286		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	30123059		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	18420967		★☆☆☆☆ Found in Text Mining only
Brain Abscess	Brain Abscess	BEFREE	23440993		★☆☆☆☆ Found in Text Mining only
Brain Abscess	Brain Abscess	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	24699047	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10815930, 15809709, 19912365, 21431419, 28940371, 28944897, 29243782		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15274325, 21078485, 21249485, 21527583, 28944897, 29243782, 33819300	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	18420967		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	18420967, 23279628	Associate	★☆☆☆☆ Found in Text Mining only
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)	Capillary Malformation-Arteriovenous Malformation	BEFREE	29171923, 29350590		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	25631522		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15633211, 17608955, 39344331	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27268609	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	28446541		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25142939, 26325105, 30574760		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24699047	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24699047	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	30022838		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23147994, 25063739, 31186752		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	BEFREE	25503931		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	22869457	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	12812985, 18220803, 29145462, 29287901, 29459262		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	26786759, 32523017	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	31406054		★☆☆☆☆ Found in Text Mining only
Cerebral Aneurysm	Cerebral Aneurysm	BEFREE	18440621		★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	36672223	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	24876084, 29287901, 31499064		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	19352388		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	19352388		★☆☆☆☆ Found in Text Mining only
Cholecystitis	Cholecystitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	23088614		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	23088614	Associate	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	22040284		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	27321931, 30697257		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	25030442		★☆☆☆☆ Found in Text Mining only
Chronic venous insufficiency	Venous Insufficiency	BEFREE	29065449		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	27268609		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	29556626	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	14657950, 31983119	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	24866768		★☆☆☆☆ Found in Text Mining only
Colonic Polyps	Colonic polyps	Pubtator	23399955	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27466499, 29945992, 30076135		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	12778073, 19141403		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	14657950, 32434528	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	26395556		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	10625079, 10702408, 10946360, 11062290, 11170071, 11426329, 11773580, 12673790, 12843319, 15718503, 16059938, 16179574, 16470787, 16542389, 16611103, 16703249, 16705692, 16776339, 17388964, 17576210, 18283546, 18285823, 18831062, 19337313, 19508727, 20039052, 21765215, 23535011, 24196379, 25847705, 25868896, 27767404, 28530660, 29048420, 29438260, 29897969, 30108051, 30761306, 31540324, 31689244, 31805812, 8728706, 9366572		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	LHGDN	16179574, 16542389		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	27822781		★☆☆☆☆ Found in Text Mining only
Congenital pulmonary arteriovenous malformation	Congenital Pulmonary Arteriovenous Malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28959097, 29487140		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conjunctival telangiectasis	Conjunctival Telangiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Contiguous gene syndrome	Contiguous gene syndrome	BEFREE	30389587		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26637866, 28793246, 31015843		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	27789477		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	34602076	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	23516586	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis	Cystic Fibrosis	CTD_human_DG	30806029		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	BEFREE	29488175		★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	BEFREE	28910601		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28910601		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	40140985	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30697257		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30697257		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	19395281	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	19395281, 30248336		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	19395281, 33081058	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	36614087	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	19395281, 30248336, 30697257		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	LHGDN	16202216		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	28299499		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	33683746	Associate	★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	HPO_DG			★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	27837083		★☆☆☆☆ Found in Text Mining only
Duodenal polyposis	Duodenal polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinesia Familial with Facial Myokymia	Dyskinesia, familial, with facial myokymia	Pubtator	29048420	Associate	★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	22722545	Associate	★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	21810232, 29565476		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Encephalomalacia	Encephalomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	22116456, 30022838, 30479213		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	12819391		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	17442020, 24420153	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	11704111	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	34541637	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	22722545	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	23147994		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	31177798		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	17682823, 23893879		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	17682823, 23893879		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	17682823		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	23893879	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	18023103, 23893879	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Varices	Esophageal varix	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	20856203, 30420447		★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	BEFREE	29489039		★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	32600370	Associate	★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	26395556	Associate	★☆☆☆☆ Found in Text Mining only
Familial cerebral saccular aneurysm	Cerebral Saccular Aneurysm	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	23893879		★☆☆☆☆ Found in Text Mining only
Familial primary pulmonary hypertension	Pulmonary Hypertension	ORPHANET_DG	15115879, 15687131, 23298310, 24951767		★☆☆☆☆ Found in Text Mining only
Familial primary pulmonary hypertension	Pulmonary Hypertension	BEFREE	23298310, 28661905		★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	23298310	Associate	★☆☆☆☆ Found in Text Mining only
Familial primary pulmonary hypertension	Pulmonary Hypertension	GENOMICS_ENGLAND_DG	26699722		★☆☆☆☆ Found in Text Mining only
Familial pulmonary arterial hypertension	Pulmonary arterial hypertension	ORPHANET_DG	15115879, 15687131, 23298310, 24951767		★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Fibrocystic Disease of Pancreas	Cystic fibrosis of pancreas	CTD_human_DG	30806029		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	21146604, 28941022, 30563158, 31749832		★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	32847536	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal angiodysplasia	Gastrointestinal angiodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Hemorrhage	Gastrointestinal hemorrhage	Pubtator	16164574	Stimulate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	21435173, 25125675, 29242380		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	26078569	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal telangiectasia	Gastrointestinal telangiectasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized juvenile polyposis/juvenile polyposis coli	Polyposis Coli	Orphanet			★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	BEFREE	17367071		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24625025, 29643433, 30498402		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	29643433, 33471197	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24625025, 29643433, 30498402		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	25142939, 29643433		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	12009422	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	12009422		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	7586686	Stimulate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	7586686	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	23298310	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	29565476, 36902347	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	21126621	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28959097, 29487140		★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	BEFREE	28338787		★☆☆☆☆ Found in Text Mining only
Hemangioma, Cavernous	Hemangioma, Cavernous	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	29520447		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	23341958	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	28794048	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	30127989		★☆☆☆☆ Found in Text Mining only
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	CLINGEN_DG	10348742, 12015308, 15702480, 17384219, 20224041, 20364125, 20414677, 25312062, 30763665, 7894484		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	BEFREE	10545596, 10625079, 10702408, 10767348, 10982033, 11343967, 12228247, 12673790, 12786761, 12920067, 12947156, 14972453, 15024723, 15115879, 15375013, 15517393, 15521985, 15712270, 15718503, 16164574, 16429404, 16470589, 16542389, 16675726, 17081563, 17388964, 18206806, 18220803, 18312453, 18855162, 18949376, 19508727, 19555857, 19703439, 20067780, 20412114, 21378382, 21737454, 21967607, 22022569, 22192717, 22385575, 22571958, 22677372, 22722545, 23046070, 23733703, 24267784, 25159282, 25312062, 25760803, 26646071, 28231770, 28530660, 28796572, 28967497, 29048420, 29080903, 29243366, 29350590, 29438260, 30108051, 30571376, 30728427, 30763665, 31540324, 31630786, 7894484, 8640225, 8728706, 9157574, 9245986, 9366572, 9554745, 9845534		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	CLINVAR_DG	10545596, 10625079, 10749981, 11440987, 11793473, 12673790, 12920067, 15024723, 15115879, 15266205, 15375013, 15517393, 15521985, 15712270, 15712271, 15849752, 15879500, 15880681, 15907823, 16542389, 16690726, 16705692, 16752392, 17384219, 17786384, 18498373, 18607909, 19270816, 19508727, 19767588, 20414677, 20501893, 20656886, 20824275, 21158752, 21967607, 22022569, 22192717, 22385575, 22991266, 23722869, 23919827, 24001356, 24196379, 25080347, 25970827, 8162075, 9245986, 9366572, 9554745		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	LHGDN	11793473, 15024723, 15687131, 15880681, 16470589, 17081563, 17224686, 17786384, 18607909		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	CTD_human_DG	15115879, 20135064		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	GENOMICS_ENGLAND_DG	26699722		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	CLINVAR_DG	14684682, 15115879, 15687131, 18156574, 23919827		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	15849752		★☆☆☆☆ Found in Text Mining only
Heritable pulmonary arterial hypertension	Heritable Pulmonary Arterial Hypertension	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High-output congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	29459262, 30753095		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	33081058	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	26820968	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	15687131, 17166870		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	15976502, 16751767, 17641482, 18974388, 25015075, 28115513, 28382387		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	18156205, 21641407, 36672223	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	21249485	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	16675726, 17166870, 18792970, 22474227, 24956016, 25159282, 25543221, 26387786, 26699722, 27260700, 28768485, 29305977, 29350394, 30312106		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	16675726		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	22722545	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal polyposis	Pubtator	23399955	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal Polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	11692035, 12775886, 15976502, 16776339, 18440621, 19299629, 25219660, 26559253, 30121816		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	19299629	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intracranial Arteriovenous Malformations	Intracranial arteriovenous malformation	Pubtator	10702408, 17388964, 25847705, 29897969, 32503579, 36198763	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Arteriovenous Malformations	Intracranial arteriovenous malformation	Pubtator	26041630	Stimulate	★☆☆☆☆ Found in Text Mining only
Intracranial Hemorrhages	Intracranial hemorrhage	Pubtator	22991266	Associate	★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ischemic Attack Transient	Transient ischemic attack	Pubtator	32847536	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Juvenile Polyposis Coli	Juvenile polyposis syndrome	CLINGEN_DG	16287957, 23399955, 27127133		★☆☆☆☆ Found in Text Mining only
Juvenile Polyposis Coli	Juvenile polyposis syndrome	ORPHANET_DG	17204053, 18178612		★☆☆☆☆ Found in Text Mining only
JUVENILE POLYPOSIS OF STOMACH	Juvenile polyposis syndrome	CLINGEN_DG	16287957, 23399955, 27127133		★☆☆☆☆ Found in Text Mining only
JUVENILE POLYPOSIS OF STOMACH	Juvenile polyposis syndrome	ORPHANET_DG	17204053, 18178612		★☆☆☆☆ Found in Text Mining only
Juvenile polyposis syndrome	Polyposis Syndrome	CLINGEN_DG	16287957, 23399955, 27127133		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile polyposis syndrome	Polyposis Syndrome	BEFREE	16690726, 18178612, 20101697		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile polyposis syndrome	Polyposis Syndrome	ORPHANET_DG	17204053, 18178612		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile polyposis syndrome	Polyposis Syndrome	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney Diseases	Kidney Disease	BEFREE	12009422		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	12009422	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	26325105, 36614087	Associate	★☆☆☆☆ Found in Text Mining only
Lactose Intolerance	Lactose Intolerance	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	28446541		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	27255991, 30753095		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	35044512	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	34958004	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	27401038, 28351936, 30782669		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17311868		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25164610, 27268609, 28465443, 28794048, 28856237, 29115890, 30127989, 30563158, 30730204		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	23516586, 33081058	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	27268609, 28794048		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	BEFREE	28954507		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	23516586	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	25015075		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	10225446		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	18669913		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26325105	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	29689494		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	14657950, 29243782	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34587660	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	28351936		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	27255991		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	28910601		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	32847536	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	30420447		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10815930, 19912365, 21042283, 21431419, 28940371, 28944897, 29243782		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	22116456, 30022838, 30479213		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	17682823, 23893879		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28794048		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25142939, 26325105, 30574760		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23147994, 25063739, 31186752		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25125675, 29258566		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12447690, 19736306, 21444673, 31648185		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10815930, 11382917, 12447690, 12699349, 12812985, 14528280, 15809709, 17334712, 18790696, 22116456, 24618373, 24866768, 27638773, 27741515, 28793246, 29401587, 29484142, 29516931, 29643433, 29734249, 29945992, 30420447, 30479213, 31015843		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	19352388		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21042283, 28940371, 28944897, 29243782		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15809709, 20856203, 28265230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	LHGDN	17594108		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28910601		★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular angina	Pubtator	18420967	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	23341958		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	23341958	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	17088457, 20060813, 29253907		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	17088457, 18494936		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	35751644	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10225446, 10815930, 12228247, 12699349, 14519649, 14528280, 15806144, 15809709, 18283546, 18794116, 18798555, 20856203, 21042283, 21431419, 21444673, 21737454, 22116456, 23088614, 23147994, 23593103, 24618373, 24625025, 24866768, 25125675, 25164610, 25631522, 26173753, 26325105, 27255991, 27268609, 27401038, 27741515, 28265230, 28793246, 28863727, 28940371, 29243782, 29401587, 29484142, 29545133, 29643433, 30003742, 30563158, 30730204, 31015843, 31254933, 31313389, 31582184, 7633456		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	31582184		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31340569		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	31313389		★☆☆☆☆ Found in Text Mining only
Oculomotor Nerve Paralysis	Oculomotor nerve palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
OSLER-RENDU-WEBER SYNDROME 2	Telangiectasia, hereditary hemorrhagic	BEFREE	10767348, 15375013, 17224686, 23124896, 23800974, 24196379		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	20833252	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	15809709		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23147994, 25063739, 31186752		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21350924, 22142828, 23917399	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25125675, 29258566		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	25986715		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	18815549		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	29258566, 36896836	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37338014	Inhibit	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	15809709		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	28863727		★☆☆☆☆ Found in Text Mining only
Pemphigus Foliaceus	Pemphigus Foliaceus	BEFREE	29489039		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	29489039		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	28735679		★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	BEFREE	28735679		★☆☆☆☆ Found in Text Mining only
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	BEFREE	16721156		★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	29689494		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	30584075		★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	23399955		★☆☆☆☆ Found in Text Mining only
Polyposis, Gastric	Gastric polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	8543807		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	28351936		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	LHGDN	15272276		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12447690, 19736306, 21444673, 31648185		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	11987155, 12447690, 17579118, 18316564, 19004009		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17496924, 17579118, 23967299	Inhibit	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	21444673		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31648185	Associate	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	19168169	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	29489039		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	15115879, 23298310, 26699722, 26820968, 27260700, 27630060, 29350394, 34900561, 35346192	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	17166870, 27260700		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary arterial hypertension	Pulmonary arterial hypertension	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary Arteriovenous Fistulas	Pulmonary Arteriovenous Fistulas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Cystic Fibrosis	Pulmonary Cystic Fibrosis	CTD_human_DG	30806029		★☆☆☆☆ Found in Text Mining only
Pulmonary Hypertension, Primary, 1	Pulmonary Hypertension	CLINVAR_DG	23298310, 26387786		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary Veno-Occlusive Disease (disorder)	Pulmonary venoocclusive disease	BEFREE	26699722		★☆☆☆☆ Found in Text Mining only
PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT	Pulmonary venoocclusive disease	BEFREE	26699722		★☆☆☆☆ Found in Text Mining only
Rectal polyp	Rectal Polyp	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26637866, 28793246		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	25313562, 25439793, 27321931		★☆☆☆☆ Found in Text Mining only
Retinal telangiectasia	Retinal telangiectasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	29304781		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	29304781	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	12820370		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	BEFREE	19889225		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	35900532	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	LHGDN	15809709		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	35955799	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	12124870, 21344387		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	12009077	Associate	★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	30880754		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28746898		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	25142939		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	14657950	Associate	★☆☆☆☆ Found in Text Mining only
Skin Abnormalities	Skin abnormalities	Pubtator	12009077	Stimulate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	9498020	Stimulate	★☆☆☆☆ Found in Text Mining only
Spinal arteriovenous malformation	Spinal arteriovenous malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spontaneous hematomas	Hematomas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	18758636, 18798555		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	18798555, 23893879, 24122254		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18758636, 23370231, 29516931	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of mouth	Oral cavity carcinoma	BEFREE	29516931		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	24798676		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	36580209	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	15926713, 15976502		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	12124870, 17166870, 21344387, 28217887, 29928643		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	LHGDN	17166870		★☆☆☆☆ Found in Text Mining only
Telangiectasia Hereditary Hemorrhagic	Hereditary hemorrhagic telangiectasia	Pubtator	10702408, 10899246, 10951214, 11316039, 14684682, 15115879, 16123970, 16155196, 16164574, 16690726, 16785228, 17224686, 17388964, 18654869, 18673552, 19270816, 19366699, 19508727, 21967607, 22022569, 22028876, 22553411, 22722545, 22991266, 23440993, 23722869, 23772771, 23805858, 24267784, 24603890, 24777481, 25847705, 26041630, 26084222, 26176610, 27102204, 28231770, 28564608, 29048420, 29147802, 29243366, 30251589, 31400083, 31510822, 31594285, 31630786, 32300199, 32341592, 32503579, 32573726, 32600370, 32847536, 32962750, 33353465, 33894400, 34112136, 34502358, 34538258, 34872578, 35165143, 35232468, 35777360, 36902347, 36981042, 37689549, 38272447, 38355093, 39939156, 40225928, 7891373, 8728706, 9245986, 9521591	Associate	★☆☆☆☆ Found in Text Mining only
Telangiectasia Hereditary Hemorrhagic	Hereditary hemorrhagic telangiectasia	Pubtator	12843319, 12920067	Stimulate	★☆☆☆☆ Found in Text Mining only
Telangiectasia Hereditary Hemorrhagic	Hereditary hemorrhagic telangiectasia	Pubtator	24192008, 24587130, 27638773	Inhibit	★☆☆☆☆ Found in Text Mining only
Telangiectasia, Hereditary Hemorrhagic, Type 1	Telangiectasia	BEFREE	10545596, 10702408, 15907823, 18855162, 21737454, 27010826		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Telangiectasia, Hereditary Hemorrhagic, Type 1	Telangiectasia	UNIPROT_DG	10545596, 10625079, 10982033, 15024723, 15712270, 16525724, 16752392, 20414677, 7894484, 9157574, 9245986, 9554745		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Telangiectasia, Hereditary Hemorrhagic, Type 1	Telangiectasia	GENOMICS_ENGLAND_DG	14684682, 15024723, 26699722, 28989145, 30251589		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Telangiectasia, Hereditary Hemorrhagic, Type 1	Telangiectasia	CTD_human_DG	15115879, 20135064		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Telangiectasia, Hereditary Hemorrhagic, Type 1	Telangiectasia	CLINVAR_DG	16429404, 16752392		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia-Absent Radius Syndrome	BEFREE	19028006		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	18061661		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	29556626		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34587660	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	25631522		★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	BEFREE	3871466		★☆☆☆☆ Found in Text Mining only
Usher Syndrome, Type III	Usher Syndrome	BEFREE	3871466		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	19352388	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	23355533		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	10215596, 10545596, 14684682, 15718503, 18206806, 18283546, 23046070, 29253907, 29438260, 30761306, 9366572		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	16785228, 22722545, 22768148, 26084222, 32260307, 32713274	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Malformations	Vascular malformation	Pubtator	31630786	Associate	★☆☆☆☆ Found in Text Mining only
Vein of Galen aneurysm	Vein Of Galen Aneurysm	BEFREE	21987708		★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	21126621	Associate	★☆☆☆☆ Found in Text Mining only
Visceral angiomatosis	Visceral angiomatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only