POLD1 (DNA polymerase delta 1, catalytic subunit)

Gene

• Entrez ID: 5424
• Gene name: DNA polymerase delta 1, catalytic subunit
• Gene symbol: POLD1
• Synonyms (NCBI Gene): CDC2, CRCS10, IMD120, MDPL, POLD
• Chromosome: 19
• Chromosome location: 19q13.33
• Summary: This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3` to 5` exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants ha

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs9282830	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs41563714	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs45605236	C>T	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs139949679	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs140160345	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs140216790	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Non coding transcript variant, synonymous variant, coding sequence variant
rs140990974	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs144143245	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs145473716	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant, coding sequence variant
rs147911699	G>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs149569984	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs150010804	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs150066950	A>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign	Missense variant, non coding transcript variant, coding sequence variant
rs199545019	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs199993010	T>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs367680864	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs369332787	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs369613619	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs370478977	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, downstream transcript variant, intron variant
rs375365167	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs377690809	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, stop gained, non coding transcript variant
rs397514632	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs398122386	CTC>-	Pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant
rs587777627	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs745850676	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, non coding transcript variant
rs753506843	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs760140187	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs760329559	CTC>-	Conflicting-interpretations-of-pathogenicity	Intron variant
rs761914051	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs762628311	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, intron variant, synonymous variant, genic downstream transcript variant
rs772468675	A>G,T	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant, non coding transcript variant
rs775363857	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Downstream transcript variant, intron variant, genic downstream transcript variant
rs1051057675	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, synonymous variant
rs1555790184	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004837	hsa-miR-24-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	19748357
MIRT004837	hsa-miR-24-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	19748357
MIRT016440	hsa-miR-193b-3p	Microarray	20304954
MIRT023874	hsa-miR-1-3p	Proteomics	18668040
MIRT025336	hsa-miR-34a-5p	Proteomics	21566225
MIRT025336	hsa-miR-34a-5p	Proteomics	21566225
MIRT051665	hsa-let-7e-5p	CLASH	23622248
MIRT043208	hsa-miR-324-5p	CLASH	23622248
MIRT2072888	hsa-miR-3189-5p	CLIP-seq
MIRT2072889	hsa-miR-4258	CLIP-seq
MIRT2072890	hsa-miR-4281	CLIP-seq
MIRT2072891	hsa-miR-4292	CLIP-seq
MIRT2072892	hsa-miR-4308	CLIP-seq
MIRT2072888	hsa-miR-3189-5p	CLIP-seq
MIRT2072889	hsa-miR-4258	CLIP-seq
MIRT2072890	hsa-miR-4281	CLIP-seq
MIRT2072891	hsa-miR-4292	CLIP-seq
MIRT2072892	hsa-miR-4308	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP1	Unknown	11375983
TP53	Unknown	11375983

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000109	Component	Nucleotide-excision repair complex	IDA	20713449
GO:0000166	Function	Nucleotide binding	IEA
GO:0000731	Process	DNA synthesis involved in DNA repair	IDA	3335506, 24191025
GO:0000731	Process	DNA synthesis involved in DNA repair	IEA
GO:0000731	Process	DNA synthesis involved in DNA repair	IMP	1730053
GO:0000781	Component	Chromosome, telomeric region	IDA	24270157
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IDA	16762037
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	3146346
GO:0003682	Function	Chromatin binding	IDA	16762037, 24939902
GO:0003684	Function	Damaged DNA binding	IDA	24939902
GO:0003887	Function	DNA-directed DNA polymerase activity	IBA
GO:0003887	Function	DNA-directed DNA polymerase activity	IEA
GO:0003887	Function	DNA-directed DNA polymerase activity	IMP	16762037
GO:0003887	Function	DNA-directed DNA polymerase activity	TAS	9620226
GO:0004518	Function	Nuclease activity	IEA
GO:0004527	Function	Exonuclease activity	IEA
GO:0005515	Function	Protein binding	IPI	12403614, 15670210, 15805117, 16510448, 21044950, 23891004, 24191025, 24939902, 26496610, 28514442, 31449058, 32296183, 33961781, 35512704
GO:0005634	Component	Nucleus	IDA	16762037
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	IMP	16762037
GO:0006260	Process	DNA replication	TAS	9620226
GO:0006261	Process	DNA-templated DNA replication	IBA
GO:0006261	Process	DNA-templated DNA replication	IDA	20334433
GO:0006261	Process	DNA-templated DNA replication	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	3146346
GO:0006287	Process	Base-excision repair, gap-filling	IBA
GO:0006287	Process	Base-excision repair, gap-filling	IDA	10559260, 10559261
GO:0006287	Process	Base-excision repair, gap-filling	IEA
GO:0006297	Process	Nucleotide-excision repair, DNA gap filling	IBA
GO:0006297	Process	Nucleotide-excision repair, DNA gap filling	IC	20713449
GO:0006297	Process	Nucleotide-excision repair, DNA gap filling	IMP	20227374
GO:0006974	Process	DNA damage response	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008296	Function	3'-5'-DNA exonuclease activity	IBA
GO:0008408	Function	3'-5' exonuclease activity	IEA
GO:0009411	Process	Response to UV	TAS	3146346
GO:0016020	Component	Membrane	HDA	19946888
GO:0016235	Component	Aggresome	IDA
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019899	Function	Enzyme binding	IEA
GO:0034061	Function	DNA polymerase activity	IEA
GO:0034644	Process	Cellular response to UV	IDA	24939902
GO:0043625	Component	Delta DNA polymerase complex	IBA
GO:0043625	Component	Delta DNA polymerase complex	IDA	11595739, 22465957
GO:0043625	Component	Delta DNA polymerase complex	IEA
GO:0043625	Component	Delta DNA polymerase complex	IPI	12403614
GO:0045004	Process	DNA replication proofreading	IBA
GO:0045004	Process	DNA replication proofreading	IEA
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:0055089	Process	Fatty acid homeostasis	IMP	23770608
GO:0070987	Process	Error-free translesion synthesis	IDA	24191025
GO:0071897	Process	DNA biosynthetic process	IDA	11595739
GO:0071897	Process	DNA biosynthetic process	IEA

Other IDs

• MIM: 174761
• HGNC: 9175
• e!Ensembl: ENSG00000062822

Protein

• UniProt ID: P28340
• Protein name: DNA polymerase delta catalytic subunit (EC 2.7.7.7) (3'-5' exodeoxyribonuclease) (EC 3.1.11.-) (DNA polymerase subunit delta p125)
• Protein function: As the catalytic component of the trimeric (Pol-delta3 complex) and tetrameric DNA polymerase delta complexes (Pol-delta4 complex), plays a crucial role in high fidelity genome replication, including in lagging strand synthesis, and repair (PubM
• PDB: 6S1M, 6S1N, 6S1O, 6TNY, 6TNZ, 9EKB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03104	DNA_pol_B_exo1	130 → 477	DNA polymerase family B, exonuclease domain	Family
  PF00136	DNA_pol_B	541 → 973	DNA polymerase family B	Family
  PF14260	zf-C4pol	1012 → 1082	C4-type zinc-finger of DNA polymerase delta	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, with high levels of expression in heart and lung. {ECO:0000269|PubMed:23770608}.
• Sequence:

  MDGKRRPGPGPGVPPKRARGGLWDDDDAPRPSQFEEDLALMEEMEAEHRLQEQEEEELQS
  VLEGVADGQVPPSAIDPRWLRPTPPALDPQTEPLIFQQLEIDHYVGPAQPVPGGPPPSRG
  SVPVLRAFGVTDEGFSVCCHIHGFAPYFYTPAPPGFGPEHMGDLQRELNLAISRDSRGGR
  ELTGPAVLAVELCSRESMFGYHGHGPSPFLRITVALPRLVAPARRLLEQGIRVAGLGTPS
  FAPYEANVDFEIRFMVDTDIVGCNWLELPAGKYALRLKEKATQCQLEADVLWSDVVSHPP
  EGPWQRIAPLRVLSFDIECAGRKGIFPEPERDPVIQICSLGLRWGEPEPFLRLALTLRPC
  APILGAKVQSYEKEEDLLQAWSTFIRIMDPDVITGYNIQNFDLPYLISRAQTLKVQTFPF
  LGRVAGLCSNIRDSSFQSKQTGRRDTKVVSMVGRVQMDMLQVLLREYKLRSYTLNAVSFH
  FLGEQKEDVQHSIITDLQNGNDQTRRRLAVYCLKDAYLPLRLLERLMVLVNAVEMARVTG
  VPLSYLLSRGQQVKVVSQLLRQAMHEGLLMPVVKSEGGEDYTGATVIEPLKGYYDVPIAT
  LDFSSLYPSIMMAHNLCYTTLLRPGTAQKLGLTEDQFIRTPTGDEFVKTSVRKGLLPQIL
  ENLLSARKRAKAELAKETDPLRRQVLDGRQLALKVSANSVYGFTGAQVGKLPCLEISQSV
  TGFGRQMIEKTKQLVESKYTVENGYSTSAKVVYGDTDSVMCRFGVSSVAEAMALGREAAD
  WVSGHFPSPIRLEFEKVYFPYLLISKKRYAGLLFSSRPDAHDRMDCKGLEAVRRDNCPLV
  ANLVTASLRRLLIDRDPEGAVAHAQDVISDLLCNRIDISQLVITKELTRAASDYAGKQAH
  VELAERMRKRDPGSAPSLGDRVPYVIISAAKGVAAYMKSEDPLFVLEHSLPIDTQYYLEQ
  QLAKPLLRIFEPILGEGRAEAVLLRGDHTRCKTVLTGKVGGLLAFAKRRNCCIGCRTVLS
  HQGAVCEFCQPRESELYQKEVSHLNALEERFSRLWTQCQRCQGSLHEDVICTSRDCPIFY
  MRKKVRKDLEDQEQLLRRFGPPGPEAW

• Sequence length: 1107

Pathways

KEGG:

DNA replication
Base excision repair
Nucleotide excision repair
Mismatch repair
Homologous recombination

Reactome:

Recognition of DNA damage by PCNA-containing replication complex
Polymerase switching on the C-strand of the telomere
Processive synthesis on the C-strand of the telomere
Telomere C-strand (Lagging Strand) Synthesis
Removal of the Flap Intermediate from the C-strand
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
PCNA-Dependent Long Patch Base Excision Repair
Termination of translesion DNA synthesis
HDR through Homologous Recombination (HRR)
Gap-filling DNA repair synthesis and ligation in GG-NER
Dual Incision in GG-NER
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
Polymerase switching
Removal of the Flap Intermediate
Processive synthesis on the lagging strand

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
Carcinoma of pancreas	Pathogenic	rs2122507340	RCV001391200	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer, susceptibility to, 10	Likely pathogenic; Pathogenic	rs587777627, rs397514632, rs398122386	RCV000133512 RCV000033142 RCV001052191	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Embryonal rhabdomyosarcoma	Pathogenic	rs398122386	RCV006253756	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs587777627, rs397514632, rs398122386	RCV000568467 RCV004943734 RCV000567311	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs2122521078	RCV001376080	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mandibular hypoplasia-deafness-progeroid syndrome	Pathogenic	rs398122386	RCV000054542	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POLD1-related disorder	Pathogenic	rs398122386	RCV004537238	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adenomatous polyp of colon	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bile duct cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of colon	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined immunodeficiency	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial colorectal cancer	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial colorectal cancer type X	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial ovarian cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; -; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunodeficiency 120	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar ClinVar, Disgenet, GenCC, HPO ClinVar, Disgenet, GenCC, HPO ClinVar, Disgenet, GenCC, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LIPODYSTROPHY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROGNATHISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasm	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polymerase proofreading-related adenomatous polyposis	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	29768346		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	7812949		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	15725809		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	23263490, 23447401, 24501277, 24583393, 25370038, 25529843, 30086056, 30827058		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	24509466, 27705013, 9268294		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	29768346		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	19223503		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	11305412		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	26172944		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	30978525		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	17159347, 18076107		★☆☆☆☆ Found in Text Mining only
ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME	Mandibular Hypoplasia, Deafness, Progeroid Features And Lipodystrophy Syndrome	ORPHANET_DG	23770608		★☆☆☆☆ Found in Text Mining only
ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME	Mandibular Hypoplasia, Deafness, Progeroid Features And Lipodystrophy Syndrome	GENOMICS_ENGLAND_DG	23770608, 25131834		★☆☆☆☆ Found in Text Mining only
ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME	Mandibular Hypoplasia, Deafness, Progeroid Features And Lipodystrophy Syndrome	BEFREE	25131834, 26350127, 28521875, 29199204		★☆☆☆☆ Found in Text Mining only
ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME	Mandibular Hypoplasia, Deafness, Progeroid Features And Lipodystrophy Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME	Mandibular Hypoplasia, Deafness, Progeroid Features And Lipodystrophy Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Attenuated familial adenomatous polyposis	Adenomatous polyposis	Pubtator	31285513	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Werner syndrome	Werner Syndrome	BEFREE	27320729		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	23245697	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	23330000, 25433945, 30384473		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	17203305		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	33948826, 35620275	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18701435, 21488187, 22209942, 23570421, 25920913, 30344713, 9515786		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17159154, 35351580, 35620275	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	15317660, 19223178, 21488187, 23263490, 25529843		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	17203305		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11705845, 31673068		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35478106, 37095444	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	19738611		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	28976792	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	29768346		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	11305412		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	26172944		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11705845, 14767555, 15317660		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	14767555		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	36703617	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Polyps	Colonic polyps	Pubtator	30827058	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	23263490		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23358219, 23528559, 24501277, 24509466, 25370038, 25559809, 26133394, 26169059, 26748215, 28306219, 28368425, 28423643, 28427513, 29120461, 30086056, 31555933, 7779716		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	23263490		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23528559, 25241845, 25370038, 25827231, 28368425, 28423643, 28521875, 29120461, 30683709, 30827058, 31857678, 32567205, 32792570, 33948826, 34250404, 34479923, 35173208, 35506567, 35620275, 36291559, 37990341	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	26648449, 31297992, 31857678, 36291559, 38191122	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	27974823		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	19223178		★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	26172944	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis Laxa Autosomal Recessive Type IIB	Cutis laxa	Pubtator	26172944, 28521875, 31750734, 35196257, 35590056, 35620275, 36280868	Associate	★☆☆☆☆ Found in Text Mining only
Deaf Mutism	Deafness	CTD_human_DG	23770608		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	26172944, 28521875, 31944473, 35196257, 35590056, 35620275, 36280868	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Acquired	Deafness	CTD_human_DG	23770608		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	27320729		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	19223503, 23330000		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	29039762		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	26172944		★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	33948826	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	23263490, 23447401, 23528559, 23770608, 24509466, 24838932, 25131834, 26748215, 26755646		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Carcinoma	Endometrial carcinoma	CTD_human_DG	23263490		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Carcinoma	Endometrial carcinoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Carcinoma	Endometrial carcinoma	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial Neoplasms	CTD_human_DG	23263490		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	23447401, 23528559, 25827231, 26755646, 28368425, 32792570, 33948826, 35620275, 38191122, 38231514	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	BEFREE	18353325		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	23929435, 9242535		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	23929435, 9242535		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	12648761		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	33328484	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	17324379, 25433945, 27050366, 31143512, 31570001, 9858877		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28912153, 37990341	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	17324379, 25433945, 27050366, 31143512, 31570001, 9858877		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	16909107, 18230152		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37990341	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	26172944	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	31944473	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	36280868	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	25060910		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	39809184	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	26648449, 28218421		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	CTD_human_DG	23770608		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism, Isolated Hypogonadotropic	Hypogonadism	CTD_human_DG	23770608		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CTD_human_DG	23770608		★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	14674991		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30978525		★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	24694834		★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal polyposis	Pubtator	27573199, 29367705, 32792570, 36856825	Associate	★☆☆☆☆ Found in Text Mining only
Jaw Abnormalities	Jaw Abnormalities	CTD_human_DG	23770608		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	37095444	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12417757, 15935816		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	39768855	Associate	★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	23770608, 27320729, 29199204, 30388038		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lipodystrophy	Lipodystrophy	CTD_human_DG	23770608		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lipodystrophy	Lipodystrophy	Pubtator	28521875, 33618333, 35590056, 35620275, 36280868	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lipodystrophy	Lipodystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lipodystrophy Familial Partial	Lipodystrophy	Pubtator	28199729	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	35002543	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10094816, 12791511, 15754328, 19414386, 21372597, 21577206, 21824427, 30565332		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	10094816, 12791511, 15754328, 19414386		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31673068	Associate	★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	31629014		★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	26648449, 28218421		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	25433945		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11948426, 18701435, 21488187, 22209942, 23570421, 25920913, 30344713, 9515786		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	23263490, 23447401, 23528559, 24509466, 24838932		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11705845, 31673068		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	19738611		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30674344		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	17203305		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11069302, 16760651, 17178890, 17210692, 22391209, 25920913, 26302802, 26569090, 26732650, 27320729, 27573199, 28306219, 28352193, 28402920, 29406563, 29731906, 29920767, 31668803, 31673068, 7882308, 8318919		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	11705845, 14767555, 15317660		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	26133394		★☆☆☆☆ Found in Text Mining only
Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome	Mandibular Hypoplasia, Deafness, Progeroid Features And Lipodystrophy Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Mandibuloacral dysostosis	Mandibuloacral Dysostosis	BEFREE	29208544		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	11305412		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21691232, 28352193		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	22137483		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	22905093	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	26172944, 31944473	Associate	★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	28199729	Associate	★☆☆☆☆ Found in Text Mining only
Mullerian Aplasia and Hyperandrogenism	Mullerian Aplasia And Hyperandrogenism	BEFREE	31175162		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CTD_human_DG	23770608		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	21148814		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	36861411	Associate	★☆☆☆☆ Found in Text Mining only
MUTYH-Associate Polyposis	Polyposis	BEFREE	27705013		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29752300		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	9504608		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11305412, 15317660, 16458113, 17434927, 18230152, 19484144, 20926293, 21488187, 22094936, 22137483, 22142811, 23023727, 26081192, 26648449, 26748215, 28368425, 28423643, 29731906, 30344713, 30949170, 30955881, 31114938, 31673068, 7882308, 8430082		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	31570001		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	16699561, 23770608, 24501277, 26133394, 26172944, 26350127, 28306219		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	33618333	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	9348340	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30978525		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	30038716		★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	37990341	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29731906		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	31311554		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	19738611		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32762026, 33948826	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30674344		★☆☆☆☆ Found in Text Mining only
Pancreatic Cyst	Pancreatic cyst	Pubtator	31576098	Associate	★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	12648761		★☆☆☆☆ Found in Text Mining only
Pleomorphic Xanthoastrocytoma	Pleomorphic Xanthoastrocytoma	BEFREE	29763623		★☆☆☆☆ Found in Text Mining only
Polymerase proofreading-related adenomatous polyposis	Adenomatous Polyposis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	26133394, 30827058		★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prelingual Deafness	Deafness	CTD_human_DG	23770608		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	31311554		★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	CTD_human_DG	23770608		★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	31629014		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37950047	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasiform eczema	Psoriasiform eczema	BEFREE	29138056		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	10094816		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	12902337, 17050806, 7511881, 7952399		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10094816		★☆☆☆☆ Found in Text Mining only
Sarcoma Endometrial Stromal	Endometrial stromal sarcoma	Pubtator	32792570	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	16192727		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sjogren-Larsson Syndrome	Sjogren-Larsson Syndrome	BEFREE	26648449		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	22142811, 23874958		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	14674991		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	35196257	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	18245534		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25023197, 27865619, 28991472, 30845378		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	36001024	Associate	★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	27573199, 28368425, 35002543, 36291559	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37105989	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	19389243	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	33948826	Associate	★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	10781066, 22351772, 26172944	Associate	★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	22787159	Stimulate	★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	26172944		★☆☆☆☆ Found in Text Mining only