NTHL1 (nth like DNA glycosylase 1)

Gene

• Entrez ID: 4913
• Gene name: Nth like DNA glycosylase 1
• Gene symbol: NTHL1
• Synonyms (NCBI Gene): FAP3, NTH1, OCTS3, hNTH1
• Chromosome: 16
• Chromosome location: 16p13.3
• Summary: The protein encoded by this gene is a DNA N-glycosylase of the endonuclease III family. Like a similar protein in E. coli, the encoded protein has DNA glycosylase activity on DNA substrates containing oxidized pyrimidine residues and has apurinic/apyrimid

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs146347092	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, stop gained
rs369076851	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs371328106	G>A,C,T	Likely-benign, pathogenic	Stop gained, coding sequence variant, intron variant, synonymous variant
rs372946560	C>T	Pathogenic	Splice donor variant
rs374489979	G>A,T	Pathogenic	Intron variant, synonymous variant, coding sequence variant, stop gained
rs753029097	C>T	Uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant
rs758667255	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs759955745	->GTAC	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs779757251	C>T	Likely-pathogenic	Splice acceptor variant
rs919177150	C>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs1173366565	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1198246754	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1596220242	C>T	Likely-pathogenic	Intron variant, splice donor variant
rs1596220332	C>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1596220365	->G	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1596220478	AG>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022743	hsa-miR-124-3p	Proteomics	18668037
MIRT031740	hsa-miR-16-5p	Proteomics	18668040
MIRT049546	hsa-miR-92a-3p	CLASH	23622248
MIRT048860	hsa-miR-93-5p	CLASH	23622248
MIRT1196056	hsa-miR-421	CLIP-seq
MIRT1196057	hsa-miR-4272	CLIP-seq
MIRT1196058	hsa-miR-4709-5p	CLIP-seq
MIRT2056882	hsa-miR-27a	CLIP-seq
MIRT2056883	hsa-miR-27b	CLIP-seq
MIRT2056884	hsa-miR-513a-5p	CLIP-seq
MIRT2056882	hsa-miR-27a	CLIP-seq
MIRT2056883	hsa-miR-27b	CLIP-seq
MIRT2285350	hsa-miR-4701-5p	CLIP-seq
MIRT2056884	hsa-miR-513a-5p	CLIP-seq
MIRT2285351	hsa-miR-588	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000703	Function	Oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity	IBA
GO:0000703	Function	Oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity	IEA
GO:0000703	Function	Oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity	TAS
GO:0003677	Function	DNA binding	IEA
GO:0003684	Function	Damaged DNA binding	IDA	9927729
GO:0003690	Function	Double-stranded DNA binding	IDA	15358233
GO:0003824	Function	Catalytic activity	IEA
GO:0003906	Function	DNA-(apurinic or apyrimidinic site) endonuclease activity	IBA
GO:0003906	Function	DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA	8990169, 9927729
GO:0003906	Function	DNA-(apurinic or apyrimidinic site) endonuclease activity	IEA
GO:0004519	Function	Endonuclease activity	TAS	9831664
GO:0005515	Function	Protein binding	IPI	9927729, 15358233
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12531031
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006284	Process	Base-excision repair	IEA
GO:0006285	Process	Base-excision repair, AP site formation	IBA
GO:0006285	Process	Base-excision repair, AP site formation	IDA	9927729, 15358233
GO:0006285	Process	Base-excision repair, AP site formation	IEA
GO:0006289	Process	Nucleotide-excision repair	IBA
GO:0006289	Process	Nucleotide-excision repair	IDA	8990169
GO:0006289	Process	Nucleotide-excision repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008534	Function	Oxidized purine nucleobase lesion DNA N-glycosylase activity	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0019104	Function	DNA N-glycosylase activity	IDA	10882850
GO:0019104	Function	DNA N-glycosylase activity	IEA
GO:0045008	Process	Depyrimidination	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:0140078	Function	Class I DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA	8990169
GO:0140078	Function	Class I DNA-(apurinic or apyrimidinic site) endonuclease activity	IEA

Other IDs

• MIM: 602656
• HGNC: 8028
• e!Ensembl: ENSG00000065057

Protein

• UniProt ID: P78549
• Protein name: Endonuclease III-like protein 1 (hNTH1) (EC 3.2.2.-) (EC 4.2.99.18) (Bifunctional DNA N-glycosylase/DNA-(apurinic or apyrimidinic site) lyase) (DNA glycosylase/AP lyase)
• Protein function: Bifunctional DNA N-glycosylase with associated apurinic/apyrimidinic (AP) lyase function that catalyzes the first step in base excision repair (BER), the primary repair pathway for the repair of oxidative DNA damage (PubMed:29610152, PubMed:9927
• PDB: 7RDS, 7RDT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00730	HhH-GPD	134 → 272	HhH-GPD superfamily base excision DNA repair protein	Domain
  PF00633	HHH	199 → 228	Helix-hairpin-helix motif	Motif

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed with highest levels in heart and lowest levels in lung and liver. {ECO:0000269|PubMed:8990169, ECO:0000269|PubMed:9831664}.
• Sequence:

  MCSPQESGMTALSARMLTRSRSLGPGAGPRGCREEPGPLRRREAAAEARKSHSPVKRPRK
  AQRLRVAYEGSDSEKGEGAEPLKVPVWEPQDWQQQLVNIRAMRNKKDAPVDHLGTEHCYD
  SSAPPKVRRYQVLLSLMLSSQTKDQVTAGAMQRLRARGLTVDSILQTDDATLGKLIYPVG
  FWRSKVKYIKQTSAILQQHYGGDIPASVAELVALPGVGPKMAHLAMAVAWGTVSGIAVDT
  HVHRIANRLRWTKKATKSPEETRAALEEWLPRELWHEINGLLVGFGQQTCLPVHPRCHAC
  LNQALCPAAQGL

• Sequence length: 312

Pathways

KEGG:

Base excision repair

Reactome:

Recognition and association of DNA glycosylase with site containing an affected pyrimidine
Cleavage of the damaged pyrimidine
Displacement of DNA glycosylase by APEX1
Defective NTHL1 substrate processing
Defective NTHL1 substrate binding

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
Familial adenomatous polyposis 1	Likely pathogenic	rs2548315238	RCV004720390	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial adenomatous polyposis 3	Pathogenic; Likely pathogenic	rs879181418, rs1567369975, rs2150945390, rs2150945928, rs2150947238, rs2150957715, rs2150938327, rs2150942179, rs1455020789, rs1567369247, rs2150942398, rs2084372140, rs2150938411, rs2150941243, rs779757251, rs2548316318, rs2548321575, rs1192158230, rs1176002553, rs765168342, rs2548320418, rs1411270811, rs372946560, rs2548316221, rs2548320872, rs2548321081, rs2548315270, rs2548331894, rs2084316484, rs2150957226, rs2548316384, rs1596222596, rs2548331844, rs2548315177, rs370913375, rs895744368, rs2548315200, rs2548314985, rs2548311981, rs2548316459, rs2548311864, rs2548319061, rs2548316235, rs2548319413, rs2548331721, rs2548312011, rs2548316205, rs2548315247, rs2548311973, rs2548311523, rs2548311703, rs2548315183, rs2548312102, rs2548321272, rs2548319715, rs2548332224, rs2548319666, rs2548331798, rs2548315071, rs2548331747, rs1173366565, rs745671590, rs1555492819, rs146347092, rs753029097, rs919177150, rs1198246754, rs1596220332, rs374489979, rs758667255, rs1596220478, rs371328106, rs759955745, rs763525759, rs201671098, rs1596223384, rs1239874051, rs1411394625, rs749908882, rs1314290585, rs1290880136, rs1377633383, rs2084297946, rs2084517687	RCV003316841 RCV003458225 RCV005423985 RCV003458226 RCV003458228 RCV003458227 RCV001533141 RCV003470889 RCV003458237 RCV004591684 RCV004043465 RCV003458236 RCV003458240 RCV003458241 RCV003458232 RCV003458244 RCV003458245 RCV003459748 RCV004572802 RCV003458247 RCV003458248 RCV003458250 RCV000202319 RCV003336800 RCV003140374 RCV003140385 RCV003471614 RCV003471617 RCV003471618 RCV003463213 RCV003471619 RCV003458299 RCV003458300 RCV003458301 RCV003458302 RCV003458303 RCV003458304 RCV003458305 RCV003458306 RCV003458307 RCV003458308 RCV003458309 RCV003458310 RCV003458311 RCV003458313 RCV003458314 RCV003458315 RCV003458316 RCV003458317 RCV003458318 RCV003458319 RCV003458320 RCV004786971 RCV005871277 RCV004374039 RCV004442559 RCV004442569 RCV004442595 RCV004589195 RCV004589254 RCV004589333 RCV003458205 RCV001310141 RCV003458204 RCV001535451 RCV001784408 RCV003458215 RCV003458214 RCV003458211 RCV003458209 RCV003458212 RCV003458218 RCV003458208 RCV003458206 RCV003458207 RCV003458216 RCV004789209 RCV003458217 RCV002290473 RCV003458210 RCV003458213 RCV000989411 RCV003458220 RCV003336244 RCV003458221 RCV003469263 RCV005621084 RCV003458312	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs879181418, rs1567369975, rs2150945390, rs2150945928, rs2150947238, rs2150957715, rs2150942179, rs2084241184, rs1567369247, rs2150942398, rs2084372140, rs2150938411, rs2150946400, rs2150946310, rs2150946263, rs2150946170, rs2548316296, rs2548315043, rs2548316318, rs2084236498, rs2548321575, rs1192158230, rs2548320418, rs2084241437, rs372946560, rs2548316266, rs2548331971, rs2548315238, rs2548331844, rs2548315200, rs2548314985, rs2548316459, rs2548315247, rs2548331710, rs2548315153, rs1173366565, rs745671590, rs1555492819, rs146347092, rs753029097, rs919177150, rs1198246754, rs1596220332, rs374489979, rs758667255, rs1596220478, rs371328106, rs759955745, rs763525759, rs201671098, rs1596223384, rs779757251, rs1411394625, rs749908882, rs1596220365, rs1314290585, rs1290880136, rs1377633383, rs2084297946, rs1184801355, rs2084517687	RCV005453291 RCV004639609 RCV003169950 RCV002438888 RCV003298633 RCV004037691 RCV003355542 RCV005374964 RCV004945862 RCV004043464 RCV002441011 RCV002386918 RCV002257312 RCV002255965 RCV002255966 RCV002258606 RCV002333817 RCV002375781 RCV002328735 RCV002378578 RCV002401252 RCV005377278 RCV003167845 RCV004946124 RCV003352802 RCV003164928 RCV003293266 RCV003293268 RCV004654225 RCV005455797 RCV004654226 RCV004943041 RCV005387177 RCV004516067 RCV004516061 RCV002424557 RCV002256456 RCV004026006 RCV001018044 RCV001027136 RCV002363103 RCV001023343 RCV002332650 RCV002336609 RCV002332652 RCV002332722 RCV002352346 RCV001021416 RCV002352342 RCV002363139 RCV003362964 RCV004029040 RCV001024197 RCV001011341 RCV001011335 RCV001022918 RCV001021039 RCV001015982 RCV002411615 RCV002258127 RCV005372594 RCV002393598 RCV004636743	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NTHL1-deficiency tumor predisposition syndrome	Likely pathogenic; Pathogenic	rs745671590	RCV005367487	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NTHL1-related disorder	Likely pathogenic; Pathogenic	rs146347092	RCV004751695	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL CORTICAL DYSPLASIA OF TAYLOR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inherited polyposis and early onset colorectal cancer - germline testing	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENINGIOMA	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBEROUS SCLEROSIS 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of duodenum	Adenocarcinoma Of Duodenum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	31285513		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	18515411, 23951112, 31227763		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	25938944, 28331556, 29105096, 29702101, 30753826, 30904095		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	CTD_human_DG	25938944		★☆☆☆☆ Found in Text Mining only
Attenuated familial adenomatous polyposis	Adenomatous polyposis	Pubtator	31227763, 31285513	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28912133, 30753826, 34250384, 38036545	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	30552997		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26400813		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17029639, 25938944, 26169059, 27713038, 29105096, 30753826, 30862463, 30904095, 31227763		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17029639, 28445943, 30267214, 30753826, 31227763, 32949222, 37834005, 38036545	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	31227763	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	23940330		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
FAMILIAL ADENOMATOUS POLYPOSIS 3	Adenomatous Polyposis	CLINGEN_DG	25938944, 26559593, 27329137, 27720914		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FAMILIAL ADENOMATOUS POLYPOSIS 3	Adenomatous Polyposis	GENOMICS_ENGLAND_DG	25938944		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FAMILIAL ADENOMATOUS POLYPOSIS 3	Adenomatous Polyposis	ORPHANET_DG	25938944, 26559593		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FAMILIAL ADENOMATOUS POLYPOSIS 3	Adenomatous Polyposis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial Intestinal Polyposis	Multiple polyposis syndrome	CTD_human_DG	25938944		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP D2	Fanconi Anemia	BEFREE	28934497		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	22331172		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	22331172		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	37402954	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	37834005	Associate	★☆☆☆☆ Found in Text Mining only
Hyperplastic polyposis syndrome	Hyperplastic Polyposis Syndrome	BEFREE	31227763		★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	37834005	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal polyposis	Pubtator	29367705, 34250384, 37834005	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Meningioma	Intracranial Meningioma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	36581342	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	36581342	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26400813		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19414504		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15056851, 29105096, 29522130, 30753826, 31227763		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	31227763	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1	Mental retardation	BEFREE	28934497		★☆☆☆☆ Found in Text Mining only
MUTYH-Associate Polyposis	Polyposis	BEFREE	28331556, 29105096, 29702101, 30904095		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12884363, 20033472, 26559593, 29105096, 29522130, 30753826		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26400813		★☆☆☆☆ Found in Text Mining only
NTHL1-related attenuated familial adenomatous polyposis	Adenomatous Polyposis	Orphanet			★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	36581342	Associate	★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	30552997		★☆☆☆☆ Found in Text Mining only
Polyposis, Adenomatous Intestinal	Multiple polyposis syndrome	CTD_human_DG	25938944		★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seborrheic keratosis	Seborrheic keratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19414504		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	22331172		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	36581342	Associate	★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 2 (disorder)	Tuberous Sclerosis	BEFREE	20033472		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	37402954	Associate	★☆☆☆☆ Found in Text Mining only