MTTP (microsomal triglyceride transfer protein)

Gene

• Entrez ID: 4547
• Gene name: Microsomal triglyceride transfer protein
• Gene symbol: MTTP
• Synonyms (NCBI Gene): ABL, MTP
• Chromosome: 4
• Chromosome location: 4q23
• Summary: MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61733140	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs61750974	G>A	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs79023226	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs113337987	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs115222767	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs144590904	G>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs144600401	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs146064714	G>T	Pathogenic	Stop gained, coding sequence variant
rs199422219	C>T	Pathogenic	Coding sequence variant, stop gained
rs199422220	G>A	Pathogenic	Coding sequence variant, missense variant
rs199422221	A>T	Pathogenic	Coding sequence variant, missense variant
rs199422222	G>T	Pathogenic	Coding sequence variant, missense variant
rs755681036	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs760547155	A>G	Likely-pathogenic	Splice acceptor variant
rs764189338	G>A	Pathogenic	Splice donor variant
rs767833468	G>A	Pathogenic	Coding sequence variant, missense variant
rs772602972	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1553926818	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1553927840	A>G	Likely-pathogenic	Splice acceptor variant
rs1560614154	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1560614646	A>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1560621444	G>A	Pathogenic	Splice acceptor variant
rs1560621495	T>A	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT054897	hsa-miR-30e-5p	Luciferase reporter assay	25305447
MIRT054897	hsa-miR-30e-5p	Luciferase reporter assay	25305447
MIRT437433	hsa-miR-30c-5p	Luciferase reporter assay	24007526
MIRT437433	hsa-miR-30c-5p	Luciferase reporter assay	24007526
MIRT437433	hsa-miR-30c-5p	Luciferase reporter assay	24007526
MIRT1165604	hsa-miR-1200	CLIP-seq
MIRT1165605	hsa-miR-3074-5p	CLIP-seq
MIRT1165606	hsa-miR-3920	CLIP-seq
MIRT1165607	hsa-miR-550b	CLIP-seq
MIRT1165604	hsa-miR-1200	CLIP-seq
MIRT1165605	hsa-miR-3074-5p	CLIP-seq
MIRT1165606	hsa-miR-3920	CLIP-seq
MIRT1165604	hsa-miR-1200	CLIP-seq
MIRT1165605	hsa-miR-3074-5p	CLIP-seq
MIRT1165606	hsa-miR-3920	CLIP-seq
MIRT1165607	hsa-miR-550b	CLIP-seq
MIRT1165604	hsa-miR-1200	CLIP-seq
MIRT1165605	hsa-miR-3074-5p	CLIP-seq
MIRT1165606	hsa-miR-3920	CLIP-seq
MIRT1165604	hsa-miR-1200	CLIP-seq
MIRT1165605	hsa-miR-3074-5p	CLIP-seq
MIRT1165606	hsa-miR-3920	CLIP-seq
MIRT2047923	hsa-miR-129-5p	CLIP-seq
MIRT2047924	hsa-miR-579	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HNF1A	Activation	22357705
HNF1A	Unknown	18697801
HNF4A	Activation	22357705
NR2F1	Repression	22357705
SREBF2	Repression	10455139

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005319	Function	Lipid transporter activity	IEA
GO:0005319	Function	Lipid transporter activity	TAS
GO:0005515	Function	Protein binding	IPI	10946006, 16478722, 23475612, 25108285, 26224785, 27487388
GO:0005548	Function	Phospholipid transporter activity	IBA
GO:0005548	Function	Phospholipid transporter activity	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	16478722, 22236406, 23475612, 26224785
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	16478722
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	TAS	1439810
GO:0006641	Process	Triglyceride metabolic process	IEA
GO:0006869	Process	Lipid transport	IEA
GO:0007623	Process	Circadian rhythm	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0009306	Process	Protein secretion	IDA	16478722
GO:0009306	Process	Protein secretion	IMP	8876250, 23749231
GO:0015914	Process	Phospholipid transport	IDA	23475612, 26224785
GO:0015918	Process	Sterol transport	IEA
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0031526	Component	Brush border membrane	IEA
GO:0031528	Component	Microvillus membrane	IEA
GO:0031982	Component	Vesicle	IEA
GO:0034185	Function	Apolipoprotein binding	IEA
GO:0034197	Process	Triglyceride transport	IDA	22236406, 23475612, 25108285, 26224785
GO:0034197	Process	Triglyceride transport	IMP	23749231
GO:0034374	Process	Low-density lipoprotein particle remodeling	IEA
GO:0034377	Process	Plasma lipoprotein particle assembly	IDA	16478722, 23475612, 26224785
GO:0034377	Process	Plasma lipoprotein particle assembly	IMP	8876250
GO:0034378	Process	Chylomicron assembly	TAS
GO:0034379	Process	Very-low-density lipoprotein particle assembly	TAS
GO:0042157	Process	Lipoprotein metabolic process	IBA
GO:0042157	Process	Lipoprotein metabolic process	IEA
GO:0042157	Process	Lipoprotein metabolic process	IEA
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042953	Process	Lipoprotein transport	IEA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IDA	23475612
GO:0051592	Process	Response to calcium ion	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0120009	Process	Intermembrane lipid transfer	IEA
GO:0120014	Function	Phospholipid transfer activity	IDA	23475612, 26224785
GO:0120014	Function	Phospholipid transfer activity	IEA
GO:0120019	Function	Phosphatidylcholine transfer activity	IDA	16478722
GO:0120019	Function	Phosphatidylcholine transfer activity	IEA
GO:0120019	Function	Phosphatidylcholine transfer activity	IMP	8876250
GO:0120020	Function	Cholesterol transfer activity	IDA	15897609, 16478722
GO:0120020	Function	Cholesterol transfer activity	IEA
GO:0120020	Function	Cholesterol transfer activity	IMP	8876250
GO:0140344	Function	Triglyceride transfer activity	IDA	15897609, 16478722, 22236406, 25108285
GO:0140344	Function	Triglyceride transfer activity	IEA
GO:0140344	Function	Triglyceride transfer activity	IMP	8876250
GO:1902388	Function	Ceramide 1-phosphate transfer activity	IDA	23475612
GO:1902389	Process	Ceramide 1-phosphate transport	IEA
GO:1904121	Function	Phosphatidylethanolamine transfer activity	IDA	15897609, 16478722
GO:1904121	Function	Phosphatidylethanolamine transfer activity	IEA

Other IDs

• MIM: 157147
• HGNC: 7467
• e!Ensembl: ENSG00000138823

Protein

• UniProt ID: P55157
• Protein name: Microsomal triglyceride transfer protein large subunit
• Protein function: Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces (PubMed:15897609, PubMed:16478722, PubMed:22236406, PubMed:23475612, PubMed:25108285, PubMed:26224785, PubMed:8876250, PubMed:8939939). Re
• PDB: 8EOJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01347	Vitellogenin_N	28 → 584	Lipoprotein amino terminal region	Family

• Tissue specificity: TISSUE SPECIFICITY: Liver and small intestine. Also found in ovary, testis and kidney. {ECO:0000269|PubMed:7961826}.
• Sequence:

  MILLAVLFLCFISSYSASVKGHTTGLSLNNDRLYKLTYSTEVLLDRGKGKLQDSVGYRIS
  SNVDVALLWRNPDGDDDQLIQITMKDVNVENVNQQRGEKSIFKGKSPSKIMGKENLEALQ
  RPTLLHLIHGKVKEFYSYQNEAVAIENIKRGLASLFQTQLSSGTTNEVDISGNCKVTYQA
  HQDKVIKIKALDSCKIARSGFTTPNQVLGVSSKATSVTTYKIEDSFVIAVLAEETHNFGL
  NFLQTIKGKIVSKQKLELKTTEAGPRLMSGKQAAAIIKAVDSKYTAIPIVGQVFQSHCKG
  CPSLSELWRSTRKYLQPDNLSKAEAVRNFLAFIQHLRTAKKEEILQILKMENKEVLPQLV
  DAVTSAQTSDSLEAILDFLDFKSDSSIILQERFLYACGFASHPNEELLRALISKFKGSIG
  SSDIRETVMIITGTLVRKLCQNEGCKLKAVVEAKKLILGGLEKAEKKEDTRMYLLALKNA
  LLPEGIPSLLKYAEAGEGPISHLATTALQRYDLPFITDEVKKTLNRIYHQNRKVHEKTVR
  TAAAAIILNNNPSYMDVKNILLSIGELPQEMNKYMLAIVQDILRFEMPASKIVRRVLKEM
  VAHNYDRFSRSGSSSAYTGYIERSPRSASTYSLDILYSGSGILRRSNLNIFQYIGKAGLH
  GSQVVIEAQGLEALIAATPDEGEENLDSYAGMSAILFDVQLRPVTFFNGYSDLMSKMLSA
  SGDPISVVKGLILLIDHSQELQLQSGLKANIEVQGGLAIDISGAMEFSLWYRESKTRVKN
  RVTVVITTDITVDSSFVKAGLETSTETEAGLEFISTVQFSQYPFLVCMQMDKDEAPFRQF
  EKKYERLSTGRGYVSQKRKESVLAGCEFPLHQENSEMCKVVFAPQPDSTSSGWF

• Sequence length: 894

Pathways

KEGG:

Fat digestion and absorption

Reactome:

VLDL assembly
Chylomicron assembly

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abetalipoproteinaemia	Likely pathogenic; Pathogenic	rs1725410386, rs1726269709, rs752343394, rs1228389182, rs2110212747, rs762901763, rs1725952378, rs2110217173, rs2110230146, rs1449774712, rs2110218614, rs2476107722, rs2476149431, rs2476107655, rs2476090307, rs2476141732, rs2476146041, rs1472530614, rs2476106449, rs2476149064, rs2476145943, rs2476074154, rs956227338, rs2476090042, rs2476149238, rs2476124425, rs2476149269, rs2476141279, rs2476107771, rs2476141442, rs2476118133, rs2476113393, rs2476090213, rs2476103063, rs2476113390, rs2476107903, rs2476158124, rs2476126262, rs2476124246, rs2476158333, rs2476146079, rs2476134780, rs1235583687, rs1369425792, rs2476086631, rs1458456081, rs17599091, rs1560614154, rs199422219, rs1429774833, rs1560621444, rs199422220, rs199422221, rs199422222, rs146064714, rs1553926818, rs755681036, rs1553927840, rs767833468, rs1560614646, rs760547155, rs764189338, rs372321643, rs1725827570, rs777548973, rs1725178752, rs760855321, rs1725413862, rs1283854712, rs1725516307, rs1725580386, rs1171996547, rs1725671165, rs1486643983, rs1725702758, rs1725826321, rs1725885571, rs1725886004, rs1725953201, rs1725996321, rs1726001209, rs1726166189	RCV001329129 RCV001329127 RCV005038160 RCV002499810 RCV006261762 RCV001831391 RCV002469388 RCV001784684 RCV002503485 RCV005025669 RCV002251190 RCV002306593 RCV002306628 RCV002306706 RCV002309545 RCV002309597 RCV002309737 RCV002309810 RCV002309872 RCV002309904 RCV002309905 RCV002307881 RCV002307970 RCV002308063 RCV002308107 RCV002308170 RCV002308264 RCV002308361 RCV002309036 RCV002309271 RCV002309329 RCV002309352 RCV002307225 RCV002307242 RCV002307350 RCV002310109 RCV002310145 RCV002310197 RCV002310264 RCV002310413 RCV002310566 RCV002310586 RCV005028331 RCV005032303 RCV003128080 RCV003155786 RCV003486279 RCV000015302 RCV000015303 RCV000015304 RCV000015305 RCV000015306 RCV000015308 RCV000015309 RCV000015311 RCV000500344 RCV000588539 RCV000674027 RCV000770995 RCV000781607 RCV001275667 RCV001532971 RCV001275665 RCV001260389 RCV003142191 RCV001264268 RCV001264269 RCV001264270 RCV001263695 RCV001263696 RCV001263697 RCV001263698 RCV001263699 RCV001263700 RCV001263701 RCV001263702 RCV001263775 RCV001263776 RCV001263777 RCV001263778 RCV001263779 RCV001263780	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Metabolic syndrome X	Likely pathogenic; Pathogenic	rs1228389182, rs2110230146	RCV002499810 RCV002503485	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MTTP-related disorder	Pathogenic; Likely pathogenic	rs762901763, rs1190052366, rs2476141537, rs199422219, rs752343394, rs760547155	RCV003405634 RCV003404060 RCV003412248 RCV003398517 RCV003902186 RCV003392605	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ABETALIPOPROTEINEMIA	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME, PROTECTION AGAINST	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ABDOMINAL OBESITY-METABOLIC SYNDROME 1	Metabolic syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Abetalipoproteinemia	Abetalipoproteinemia	BEFREE	10446076, 10679949, 10946006, 10990076, 11896544, 14732481, 14741197, 15654125, 15910857, 16390683, 17132287, 17275380, 17392503, 17570373, 18027103, 19066957, 21502686, 21874758, 22236406, 23043934, 23475612, 23556456, 24139731, 24751931, 25552696, 26224785, 26321052, 26458397, 27487388, 27578136, 28386107, 28514664, 29030834, 29540175, 30626204, 30875496, 31004524, 31253576, 7590733, 7596189, 7782284, 8044420, 8071315, 8361539, 8533758, 8808765, 8939939, 9467817		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Abetalipoproteinemia	Abetalipoproteinemia	UNIPROT_DG	10679949, 10946006, 22236406, 23475612, 25108285, 26224785, 8939939		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Abetalipoproteinemia	Abetalipoproteinemia	CLINVAR_DG	10679949, 10946006, 12630961, 17275380, 18611256, 22236406, 23475612, 7782284, 8533758, 8939939		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Abetalipoproteinemia	Abetalipoproteinemia	Pubtator	14732481, 20592474, 22236406, 23556456, 26458397, 27179706, 28514664, 33258201, 34078172, 35931202, 36771214, 8533758, 8808765, 8939939	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Abetalipoproteinemia	Abetalipoproteinemia	LHGDN	19056372		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Abetalipoproteinemia	Abetalipoproteinemia	ORPHANET_DG	22378282, 23556456, 24288038		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Abetalipoproteinemia	Abetalipoproteinemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Abetalipoproteinemia	Abetalipoproteinemia	GENOMICS_ENGLAND_DG	27160094, 27604308, 2991816		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Abetalipoproteinemia	Abetalipoproteinemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Abetalipoproteinemia	Abetalipoproteinemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	1997745		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	10812164, 1317490, 17852464, 18193087, 19234145, 2013978, 2223647, 2678002, 2685476, 8562932, 9365838		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	10637472, 10640143, 11049022, 11369654, 12759927, 1353550, 1493473, 1515646, 15265366, 15716990, 16157197, 16213359, 16618932, 17312329, 17701954, 18024662, 18193087, 18603297, 19215796, 22985168, 2334939, 24468836, 24848770, 25919613, 26221900, 2649173, 27786412, 3118359, 31563145, 3289649, 7769362, 7777499, 7786792, 8242587, 8289491, 8490164, 8632666, 8639438, 8756076, 9790503, 9858221		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30956771, 31666936		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10637472, 11049022, 12759927, 1515646, 15265366, 15282669, 16157197, 16213359, 17312329, 17701954, 18193087, 19215796, 26221900, 2649173, 27786412, 8490164, 8632666, 8756076, 9737699, 9790503		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	3025859		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	15654125		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	10807748, 19501864, 25897792		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	31171913		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	10807748, 19501864, 25897792		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	15297289		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	26458397, 9463319	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28380378		★☆☆☆☆ Found in Text Mining only
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Lymphoblastic Leukemia	BEFREE	15621812, 18615627, 18704194, 20425368, 24652384, 25300870, 25331939, 25842192, 25894969, 27582059, 2833755, 29284366, 3027581, 30389549, 30831480, 31349760, 3179449, 8289476, 8324740, 8490164, 9050373		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	10190307, 11516106, 11753385, 12759927, 12921956, 1515646, 15381060, 15867198, 18193087, 19234145, 19432895, 2013978, 2223647, 24098673, 2683759, 27908728, 2885048, 9858221		★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	23556456	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10071278, 25803821, 26838548, 29774130		★☆☆☆☆ Found in Text Mining only
Burkitt Leukemia	Burkitt`s Lymphoma	BEFREE	2406517		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35931202	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28514664, 29519241		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	28514664	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	10657570, 18611256, 23356586, 25552696, 31395737		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	23356586, 31882500	Associate	★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10637472, 11049022, 12759927, 1515646, 15265366, 16157197, 16213359, 17312329, 17701954, 18193087, 19215796, 26221900, 2649173, 27786412, 8490164, 8632666, 8756076, 9523202, 9790503		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	26221900		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29779033, 30931940		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	18971950, 19394693, 20809224, 22051730		★☆☆☆☆ Found in Text Mining only
Chronic Neutrophilic Leukemia	Neutrophilic Leukemia	BEFREE	9747637		★☆☆☆☆ Found in Text Mining only
Chylomicron retention disease	Chylomicron Retention Disease	BEFREE	21874758, 23043934, 29540175, 31253576		★☆☆☆☆ Found in Text Mining only
Chylomicron retention disease	Chylomicron retention disease	Pubtator	36771214	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	26458397		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17196995		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	17570373		★☆☆☆☆ Found in Text Mining only
Congenital abnormality of vein	Venous malformation	BEFREE	30626204		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	12399961, 14987402, 15282669, 19215794, 27281463, 9365838		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28098949		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	15136504, 16328015, 9831631		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	15136504, 16328015, 26965314, 9831631		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	16617174, 19255880	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10657570, 15136504, 16328015, 9831631		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	27666407		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	29519241		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	19554651		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19255880, 23696415	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	19554651		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	12818411	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	28380378		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10990076, 12716735, 12818411, 15028851, 16518588, 16721486		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	28380378		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	12716735, 12775233, 15547295, 16721486, 17700364, 24334831, 25552696, 28109622, 28572002		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	LHGDN	15297289		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	15547295, 23273182	Associate	★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	38030461	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Stromal Sarcoma	Endometrial Stromal Sarcoma	BEFREE	23018215		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	23117882		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	23117882		★☆☆☆☆ Found in Text Mining only
Familial hypercholesterolemia - homozygous	Hypercholesterolemia	BEFREE	23122768, 23594709, 24632267, 24870549, 25257075, 25552696, 25897792, 26228681, 27055957, 27170061, 27578108, 27690713, 28527325, 29306853, 29899183, 30663562, 30945578, 31403880		★☆☆☆☆ Found in Text Mining only
Familial hypobetalipoproteinemia	Hypobetalipoproteinemia	BEFREE	15910857, 18027103, 24751931		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	10990076, 11830326, 16458034, 16697730, 17823431, 18482281, 19018985, 19262398, 24201112, 25552696, 26458397, 26822232, 26859812, 27862118, 28356060, 30790698, 31321587		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty Liver	CTD_human_DG	17303181		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty Liver	LHGDN	18482281		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty liver	Pubtator	22147193, 25287167, 26458397, 26822232, 28128295, 28356060, 36027755	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver Disease	Fatty Liver	BEFREE	15094225, 17464986, 19733470, 19817962, 21350309, 21727734, 28062946		★☆☆☆☆ Found in Text Mining only
Fatty Liver, Alcoholic	Alcoholic Fatty Liver	BEFREE	11830326, 19262398		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosis, Liver	Liver Fibrosis	BEFREE	18482281		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	15342366, 16786129, 27965460		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	2334939, 27732969		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	12592364, 2334939, 27732969		★☆☆☆☆ Found in Text Mining only
Gout	Gout	BEFREE	29210196		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	25587205		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28098949		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	19432895, 27694901, 8251903		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	8640172		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	20841568		★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	22147193, 36027755	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	25673715	Inhibit	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	22147193, 25287167	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Chronic	Hepatitis	Pubtator	36027755	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	21874758		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	11849654, 16697730		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipidemia	Hyperlipidemia	BEFREE	17227233, 23749231, 24201112, 25663234, 26224785, 28291840		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	BEFREE	17227233		★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	26458397	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	17215532	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	25587205	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	16328015		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypobetalipoproteinemia Familial 1	Hypoalphalipoproteinemia	Pubtator	36771214	Associate	★☆☆☆☆ Found in Text Mining only
Hypobetalipoproteinemias	Hypoalphalipoproteinemia	BEFREE	14732481, 24001780, 24751931, 27487388, 29540175, 31253576		★☆☆☆☆ Found in Text Mining only
Hypobetalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	14732481, 27179706, 29540175	Associate	★☆☆☆☆ Found in Text Mining only
Hypobetalipoproteinemias	Hypoalphalipoproteinemia	LHGDN	19056372		★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	24842304, 30782561		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	15691897, 17132287		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	31914726	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	18460919		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	24142110	Inhibit	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	26458397	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	16618932		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	11222387, 11964320, 17189410, 17353369, 1756491, 18253707, 1868241, 20300999, 2406517, 24100660, 24490604, 24586514, 27281463, 27437766, 27894413, 28386107, 28599273, 29299123, 29437150, 3129652, 31316003, 31316004, 31349760, 3165197, 3289649, 7665185, 7723413, 7934165, 8464245, 8754809, 9002963		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10706884, 11781223, 15920493, 16213359, 20809224, 2644988, 2685476, 8242587, 9002963, 9078296		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	8289491		★☆☆☆☆ Found in Text Mining only
Lipid Metabolism Disorders	Lipid Metabolism Disorders	BEFREE	30709407		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	12020640		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31353085, 9514536		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	25287167	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	26458397		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	36027755	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	31353085		★☆☆☆☆ Found in Text Mining only
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency	BEFREE	10789927		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	30630711		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	19056372, 19066957, 23145105		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10071278, 25803821, 26838548, 29774130		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	23117882		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10706884, 12080468, 12094371, 14961028, 15988530, 21722956, 2334939, 24589238, 25432929, 26053277, 27145282, 28567073, 29437150, 29794137, 3129652, 31316003, 31366375, 3289649, 8656674		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	30517893		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	27666407		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	29095929, 29338565	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29338565		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	23349834, 26458397	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	15547295, 16721486, 17227233, 17823431, 18280132, 18951054, 23609384, 23738963, 26458397		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial Diseases	Mitochondrial disease	Pubtator	23696415	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	27816331		★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	29500292		★☆☆☆☆ Found in Text Mining only
Monocytosis	Monocytosis	BEFREE	10583263		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	9002963		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	10190307, 10442632, 10480429, 10492071, 10526530, 10549264, 10583263, 10637472, 10794714, 10812164, 10886215, 11122114, 11345196, 11357705, 11369654, 11463449, 11516106, 11559572, 11574931, 11780326, 11964320, 12036887, 12036890, 12130516, 12373087, 12759927, 12783380, 12835719, 12869662, 12908554, 12921956, 1353550, 1371078, 1377943, 14635208, 14645009, 14961028, 14973502, 14987402, 1515646, 15256671, 15282669, 15309385, 15381060, 15389825, 15481444, 15621812, 15654903, 15867198, 1593904, 15956284, 15988530, 15993277, 16024645, 16109618, 16130897, 16224487, 16487173, 1649356, 16616113, 16618932, 16627254, 16642048, 16645210, 16932346, 16945414, 17006667, 17011977, 17189410, 17208297, 17350467, 17353369, 17457302, 1756463, 17660274, 17684485, 17853901, 17889708, 18193087, 18428043, 18603297, 18603549, 19039205, 19234145, 1932752, 19363292, 19432895, 19538165, 19654305, 19887785, 20028401, 20041451, 20071983, 20101201, 2013978, 20508029, 20519627, 20520635, 20675402, 20697894, 2072739, 20809224, 20929330, 20963643, 20965785, 21221851, 21294709, 21299457, 21505103, 2157692, 2164119, 2171702, 21722956, 21890458, 2198962, 22038725, 2223647, 2227945, 22306673, 22623184, 2267134, 22870341, 22985168, 23009571, 23208504, 2328318, 2334939, 23417967, 23433665, 23446755, 23684619, 24004697, 2403827, 24062017, 2406517, 2406902, 24098673, 24100660, 24258348, 2434223, 24490604, 24775308, 24806995, 2487142, 25127392, 25300870, 2578837, 25803821, 25842192, 25919613, 26087013, 26284455, 26304963, 2644988, 26501568, 26631023, 2676142, 27436342, 27730241, 2788468, 27908728, 2825022, 28325357, 28475010, 28673390, 28821556, 2885048, 29091516, 29284366, 29325229, 29455672, 29651584, 29725684, 30155588, 30166420, 30167087, 30202081, 3021264, 30317026, 30705677, 30755436, 30894066, 31181667, 3129652, 31349760, 3143116, 3179449, 31826340, 3422516, 3422829, 3455750, 7521685, 7579359, 7718887, 7723412, 7734352, 7769362, 7777499, 7808004, 7938018, 8127150, 8231247, 8242587, 8251903, 8251916, 8282066, 8289491, 8417787, 8463127, 8483322, 8536245, 8562932, 8605566, 8616036, 8656667, 8667643, 8697423, 8896419, 8908171, 8998181, 9002963, 9050373, 9078292, 9216726, 9341866, 9365838, 9389709, 9536079, 9716603, 9739013, 9808578, 9845542, 9858221		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	18971950, 19658100, 8908171		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	23356586	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	9831631		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	19546343, 23356586, 26859812		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	19546343	Inhibit	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	19546343, 23356586	Associate	★☆☆☆☆ Found in Text Mining only
Nail-Patella Syndrome	Nail-Patella Syndrome	BEFREE	9781017		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	29914565		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12032333, 14510942, 15282669, 15492510, 15725478, 16618932, 18089779, 18193087, 18615627, 19432895, 21454413, 24589238, 27145282, 29774130, 30956771, 31666936, 8282066		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	14704656, 15920493, 16883592, 26138637, 28567073		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Familial hypobetalipoproteinemia	Hypobetalipoproteinemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	17464986, 17823431, 19262398, 19360318, 19817962, 21438662, 23738963, 24588800, 25501226, 26458397, 26965314, 28953935, 31255630, 31756344		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	15094225, 17464986, 19733470, 19817962, 21350309, 21727734		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	15635487, 21293001, 31015892, 31395737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	21727734, 28953935	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	29687184		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	18325332		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	18325332		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	LHGDN	18325332		★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	35023662	Associate	★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	31601692		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	10640143, 11369654, 18603297, 2334939, 24468836, 3118359, 31563145, 3289649, 7777499		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	15282669, 17369128, 17488685, 18401417		★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	26822232		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	10102629		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	19451690		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	22285558		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	23145105		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	10990076, 11818366, 11830326, 16458034, 16697730, 17823431, 18445359, 18460919, 18482281, 19018985, 19262398, 19817962, 21236304, 22820290, 24201112, 25287167, 25552696, 26224785, 26458397, 26822232, 26859812, 28128295, 28356060, 28928235, 30790698, 31321587		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	CTD_human_DG	17303181		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	23696415	Associate	★☆☆☆☆ Found in Text Mining only
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Mitochondrial trifunctional protein deficiency	BEFREE	10789927		★☆☆☆☆ Found in Text Mining only
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Trifunctional protein deficiency	Pubtator	29095929, 35403730	Inhibit	★☆☆☆☆ Found in Text Mining only
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Trifunctional protein deficiency	Pubtator	35023662	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25803821		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	7590733		★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 1 (disorder)	Tuberous Sclerosis	BEFREE	7590733		★☆☆☆☆ Found in Text Mining only
Venous malformation	Venous malformation	BEFREE	30626204		★☆☆☆☆ Found in Text Mining only
Very long chain acyl-CoA dehydrogenase deficiency	Acyl CoA Dehydrogenase Deficiency	BEFREE	29519241		★☆☆☆☆ Found in Text Mining only