HPSE2 (heparanase 2 (inactive))

Gene

• Entrez ID: 60495
• Gene name: Heparanase 2 (inactive)
• Gene symbol: HPSE2
• Synonyms (NCBI Gene): HPA2, HPR2, UFS, UFS1
• Chromosome: 10
• Chromosome location: 10q24.2
• Summary: This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs267606864	G>A,C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant
rs267606865	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, 5 prime UTR variant, intron variant
rs267606866	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant, intron variant
rs397515338	TT>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs397515452	T>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, 3 prime UTR variant
rs778121647	->G	Pathogenic	Coding sequence variant, frameshift variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant
rs1469962264	AG>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, upstream transcript variant, frameshift variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1054377	hsa-miR-1266	CLIP-seq
MIRT1054378	hsa-miR-15a	CLIP-seq
MIRT1054379	hsa-miR-15b	CLIP-seq
MIRT1054380	hsa-miR-16	CLIP-seq
MIRT1054381	hsa-miR-195	CLIP-seq
MIRT1054382	hsa-miR-204	CLIP-seq
MIRT1054383	hsa-miR-211	CLIP-seq
MIRT1054384	hsa-miR-214	CLIP-seq
MIRT1054385	hsa-miR-3127-5p	CLIP-seq
MIRT1054386	hsa-miR-3613-3p	CLIP-seq
MIRT1054387	hsa-miR-3616-3p	CLIP-seq
MIRT1054388	hsa-miR-3619-5p	CLIP-seq
MIRT1054389	hsa-miR-3918	CLIP-seq
MIRT1054390	hsa-miR-3944-3p	CLIP-seq
MIRT1054391	hsa-miR-424	CLIP-seq
MIRT1054392	hsa-miR-4287	CLIP-seq
MIRT1054393	hsa-miR-4436b-3p	CLIP-seq
MIRT1054394	hsa-miR-4469	CLIP-seq
MIRT1054395	hsa-miR-4518	CLIP-seq
MIRT1054396	hsa-miR-451b	CLIP-seq
MIRT1054397	hsa-miR-4649-3p	CLIP-seq
MIRT1054398	hsa-miR-4685-3p	CLIP-seq
MIRT1054399	hsa-miR-4690-5p	CLIP-seq
MIRT1054400	hsa-miR-4721	CLIP-seq
MIRT1054401	hsa-miR-497	CLIP-seq
MIRT1054402	hsa-miR-510	CLIP-seq
MIRT1054403	hsa-miR-548ae	CLIP-seq
MIRT1054404	hsa-miR-548aj	CLIP-seq
MIRT1054405	hsa-miR-548am	CLIP-seq
MIRT1054406	hsa-miR-548x	CLIP-seq
MIRT1054407	hsa-miR-578	CLIP-seq
MIRT1054408	hsa-miR-720	CLIP-seq
MIRT1054409	hsa-miR-761	CLIP-seq
MIRT1054410	hsa-miR-1283	CLIP-seq
MIRT1054411	hsa-miR-182	CLIP-seq
MIRT1054412	hsa-miR-3136-3p	CLIP-seq
MIRT1054413	hsa-miR-3166	CLIP-seq
MIRT1054414	hsa-miR-328	CLIP-seq
MIRT1054415	hsa-miR-3667-5p	CLIP-seq
MIRT1054416	hsa-miR-3678-3p	CLIP-seq
MIRT1054417	hsa-miR-4468	CLIP-seq
MIRT1054418	hsa-miR-4470	CLIP-seq
MIRT1054419	hsa-miR-4771	CLIP-seq
MIRT1054420	hsa-miR-499a-5p	CLIP-seq
MIRT1054421	hsa-miR-520d-5p	CLIP-seq
MIRT1054422	hsa-miR-524-5p	CLIP-seq
MIRT1054423	hsa-miR-576-3p	CLIP-seq
MIRT1054384	hsa-miR-214	CLIP-seq
MIRT1054388	hsa-miR-3619-5p	CLIP-seq
MIRT1054409	hsa-miR-761	CLIP-seq
MIRT1054384	hsa-miR-214	CLIP-seq
MIRT1054388	hsa-miR-3619-5p	CLIP-seq
MIRT1054409	hsa-miR-761	CLIP-seq
MIRT1054399	hsa-miR-4690-5p	CLIP-seq
MIRT1054378	hsa-miR-15a	CLIP-seq
MIRT1054379	hsa-miR-15b	CLIP-seq
MIRT1054380	hsa-miR-16	CLIP-seq
MIRT1054381	hsa-miR-195	CLIP-seq
MIRT1054391	hsa-miR-424	CLIP-seq
MIRT1054401	hsa-miR-497	CLIP-seq
MIRT1054378	hsa-miR-15a	CLIP-seq
MIRT1054379	hsa-miR-15b	CLIP-seq
MIRT1054380	hsa-miR-16	CLIP-seq
MIRT1054381	hsa-miR-195	CLIP-seq
MIRT1054384	hsa-miR-214	CLIP-seq
MIRT1054388	hsa-miR-3619-5p	CLIP-seq
MIRT1054391	hsa-miR-424	CLIP-seq
MIRT1054393	hsa-miR-4436b-3p	CLIP-seq
MIRT2244679	hsa-miR-4530	CLIP-seq
MIRT1054399	hsa-miR-4690-5p	CLIP-seq
MIRT1054401	hsa-miR-497	CLIP-seq
MIRT1054409	hsa-miR-761	CLIP-seq
MIRT2547617	hsa-miR-1909	CLIP-seq
MIRT1054384	hsa-miR-214	CLIP-seq
MIRT2547618	hsa-miR-2392	CLIP-seq
MIRT2547619	hsa-miR-338-3p	CLIP-seq
MIRT1054388	hsa-miR-3619-5p	CLIP-seq
MIRT2547620	hsa-miR-3675-5p	CLIP-seq
MIRT2547621	hsa-miR-4492	CLIP-seq
MIRT2547622	hsa-miR-4498	CLIP-seq
MIRT2244679	hsa-miR-4530	CLIP-seq
MIRT2547623	hsa-miR-486-3p	CLIP-seq
MIRT1054409	hsa-miR-761	CLIP-seq
MIRT2547624	hsa-miR-762	CLIP-seq
MIRT1054384	hsa-miR-214	CLIP-seq
MIRT1054388	hsa-miR-3619-5p	CLIP-seq
MIRT1054409	hsa-miR-761	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BTF3	Activation	17312387

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005886	Component	Plasma membrane	TAS
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0016020	Component	Membrane	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0030198	Process	Extracellular matrix organization	IBA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030305	Function	Heparanase activity	IDA	20576607
GO:0030305	Function	Heparanase activity	TAS	11027606
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IDA	20576607
GO:0043395	Function	Heparan sulfate proteoglycan binding	IDA	20576607

Other IDs

• MIM: 613469
• HGNC: 18374
• e!Ensembl: ENSG00000172987

Protein

• UniProt ID: Q8WWQ2
• Protein name: Inactive heparanase-2 (Hpa2)
• Protein function: Binds heparin and heparan sulfate with high affinity, but lacks heparanase activity. Inhibits HPSE, possibly by competing for its substrates (in vitro).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03662	Glyco_hydro_79n	169 → 408	Glycosyl hydrolase family 79, N-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, with the highest expression in brain, mammary gland, prostate, small intestine, testis and uterus. In the central nervous system, expressed in the spinal cord, caudate nucleus, thalamus, substantia nigra, medulla oblo
• Sequence:

  MRVLCAFPEAMPSSNSRPPACLAPGALYLALLLHLSLSSQAGDRRPLPVDRAAGLKEKTL
  ILLDVSTKNPVRTVNENFLSLQLDPSIIHDGWLDFLSSKRLVTLARGLSPAFLRFGGKRT
  DFLQFQNLRNPAKSRGGPGPDYYLKNYEDDIVRSDVALDKQKGCKIAQHPDVMLELQREK
  AAQMHLVLLKEQFSNTYSNLILTARSLDKLYNFADCSGLHLIFALNALRRNPNNSWNSSS
  ALSLLKYSASKKYNISWELGNEPNNYRTMHGRAVNGSQLGKDYIQLKSLLQPIRIYSRAS
  LYGPNIGRPRKNVIALLDGFMKVAGSTVDAVTWQHCYIDGRVVKVMDFLKTRLLDTLSDQ
  IRKIQKVVNTYTPGKKIWLEGVVTTSAGGTNNLSDSYAAGFLWLNTLGMLANQGIDVVIR
  HSFFDHGYNHLVDQNFNPLPDYWLSLLYKRLIGPKVLAVHVAGLQRKPRPGRVIRDKLRI
  YAHCTNHHNHNYVRGSITLFIINLHRSRKKIKLAGTLRDKLVHQYLLQPYGQEGLKSKSV
  QLNGQPLVMVDDGTLPELKPRPLRAGRTLVIPPVTMGFYVVKNVNALACRYR

• Sequence length: 592

Pathways

KEGG:

Glycosaminoglycan degradation
Metabolic pathways
Proteoglycans in cancer

Reactome:

HS-GAG degradation

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
Congenital anomaly of kidney and urinary tract	Pathogenic; Likely pathogenic	rs2133986448, rs267606865	RCV001849621 RCV001849249	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPSE2-related disorder	Pathogenic	rs778121647	RCV003415594	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ochoa syndrome	Pathogenic	rs2133951833, rs184270108	RCV002254040 RCV002254043	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Urofacial syndrome type 1	Pathogenic; Likely pathogenic	rs2134250333, rs267606866, rs397515338, rs1469962264, rs267606864, rs267606865, rs778121647, rs2133951833, rs184270108, rs397515452	RCV001783434 RCV000000103 RCV000000104 RCV000000105 RCV000000108 RCV000000109 RCV000000110 RCV002502059 RCV002481060 RCV000054516	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAKUT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTINODULAR GOITER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROFACIAL SYNDROME	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROFACIAL SYNDROME 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	11514372		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	19277580		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	1382719		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	3193797		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	40419521	Associate	★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	8104532		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	31732739		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	19082798		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	36980254	Inhibit	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	36980254	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26084486	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30922347	Stimulate	★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	27151922	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of bladder	Bladder carcinoma	BEFREE	31732739		★☆☆☆☆ Found in Text Mining only
Caudal Regression Syndrome	Caudal regression sequence	BEFREE	6854450		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	18383324	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	9227689		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	22453758		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	22453758		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASDB_DG	23829686		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASCAT_DG	23829686		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	8104532		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33663522	Associate	★☆☆☆☆ Found in Text Mining only
Congenital urethral valve	Congenital Malformation Of The Urinary System	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	7575587		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	19515580		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	10446495, 15741796, 19515580, 19562259		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10669149, 19082798, 19515580, 26191334		★☆☆☆☆ Found in Text Mining only
Coronary Thrombosis	Coronary Thrombosis	BEFREE	11514372		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	34972135	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	21980299		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	21980299		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	25749407		★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis Congenita	BEFREE	9310472		★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	8670262		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	20576607		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	20576607	Stimulate	★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	9590153		★☆☆☆☆ Found in Text Mining only
Hemophilia, NOS	Hemophilia	BEFREE	9590153		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	6285301		★☆☆☆☆ Found in Text Mining only
HYDATIDIFORM MOLE, RECURRENT, 1	Hydatidiform Mole	BEFREE	6285301		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34808335	Stimulate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	28823219		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	16118501, 28004990		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	27151922	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	18616802	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	18616802	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11245020, 15291358, 8289487		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11523047		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	31732739		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	22453758		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	25510506		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	GWASCAT_DG	27322543		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	9673804		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	1382719		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	36980254	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	11245020		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	17261793, 17619827		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20576607, 22453758		★☆☆☆☆ Found in Text Mining only
Ochoa syndrome	Ochoa Syndrome	GENOMICS_ENGLAND_DG	19839856, 20560209		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ochoa syndrome	Ochoa Syndrome	BEFREE	20560209, 20560210, 21332471, 21450525, 23313374, 25145936, 25510506, 25924634, 30885509		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ochoa syndrome	Ochoa Syndrome	CTD_human_DG	20560209		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ochoa syndrome	Ochoa Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ochoa syndrome	Ochoa Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ocular Hypertension	Ocular Hypertension	BEFREE	8670262		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15709168		★☆☆☆☆ Found in Text Mining only
Refractory anaemia with excess blasts	Myelodysplastic syndrome	BEFREE	11245020		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	11245020		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	25510506		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	28387673		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	15837740		★☆☆☆☆ Found in Text Mining only
Thrombasthenia	Thrombasthenia	BEFREE	12871468		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia Neonatal Alloimmune	Thrombocytopenia	Pubtator	11370330, 23865077	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	26488476	Stimulate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	20560209, 6854450		★☆☆☆☆ Found in Text Mining only
Urethral Obstruction	Urethral Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urofacial syndrome	Urofacial syndrome	Pubtator	20560209, 20560210, 21450525, 23313374	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Fibroids	Uterine Fibroids	BEFREE	27733082, 28301630, 28836862		★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only