TKT (transketolase)

Gene

• Entrez ID: 7086
• Gene name: Transketolase
• Gene symbol: TKT
• Synonyms (NCBI Gene): HEL-S-48, HEL107, SDDHD, TK, TKT1
• Chromosome: 3
• Chromosome location: 3p21.1
• Summary: This gene encodes a thiamine-dependent enzyme which plays a role in the channeling of excess sugar phosphates to glycolysis in the pentose phosphate pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs781905246	->CAGAAGATAAGGAGGTAG,NNNNNNNNNNNNNNNNNN	Pathogenic	Non coding transcript variant, coding sequence variant, inframe indel
rs782092363	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs868953318	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024031	hsa-miR-1-3p	Proteomics	18668040
MIRT050103	hsa-miR-26a-5p	CLASH	23622248
MIRT049252	hsa-miR-92a-3p	CLASH	23622248
MIRT047913	hsa-miR-30c-5p	CLASH	23622248
MIRT045530	hsa-miR-149-5p	CLASH	23622248
MIRT043397	hsa-miR-331-3p	CLASH	23622248
MIRT041785	hsa-miR-484	CLASH	23622248
MIRT038566	hsa-miR-106b-3p	CLASH	23622248
MIRT437465	hsa-miR-206	Luciferase reporter assay, Quantitative proteomic approach, Western blot	23921124
MIRT024031	hsa-miR-1-3p	Luciferase reporter assay, Quantitative proteomic approach, Western blot	23921124
MIRT1426005	hsa-miR-1288	CLIP-seq
MIRT1426006	hsa-miR-1299	CLIP-seq
MIRT1426007	hsa-miR-1302	CLIP-seq
MIRT1426008	hsa-miR-1343	CLIP-seq
MIRT1426009	hsa-miR-1827	CLIP-seq
MIRT1426010	hsa-miR-298	CLIP-seq
MIRT1426011	hsa-miR-3122	CLIP-seq
MIRT1426012	hsa-miR-3158-5p	CLIP-seq
MIRT1426013	hsa-miR-3168	CLIP-seq
MIRT1426014	hsa-miR-3199	CLIP-seq
MIRT1426015	hsa-miR-3612	CLIP-seq
MIRT1426016	hsa-miR-361-3p	CLIP-seq
MIRT1426017	hsa-miR-3616-3p	CLIP-seq
MIRT1426018	hsa-miR-3689a-3p	CLIP-seq
MIRT1426019	hsa-miR-3689c	CLIP-seq
MIRT1426020	hsa-miR-3689d	CLIP-seq
MIRT1426021	hsa-miR-3913-5p	CLIP-seq
MIRT1426022	hsa-miR-4290	CLIP-seq
MIRT1426023	hsa-miR-4298	CLIP-seq
MIRT1426024	hsa-miR-4418	CLIP-seq
MIRT1426025	hsa-miR-4436b-3p	CLIP-seq
MIRT1426026	hsa-miR-4504	CLIP-seq
MIRT1426027	hsa-miR-4640-5p	CLIP-seq
MIRT1426028	hsa-miR-4652-5p	CLIP-seq
MIRT1426029	hsa-miR-4667-3p	CLIP-seq
MIRT1426030	hsa-miR-4687-5p	CLIP-seq
MIRT1426031	hsa-miR-4721	CLIP-seq
MIRT1426032	hsa-miR-4726-3p	CLIP-seq
MIRT1426033	hsa-miR-4726-5p	CLIP-seq
MIRT1426034	hsa-miR-4728-5p	CLIP-seq
MIRT1426035	hsa-miR-4778-5p	CLIP-seq
MIRT1426036	hsa-miR-4782-5p	CLIP-seq
MIRT1426037	hsa-miR-4790-3p	CLIP-seq
MIRT1426038	hsa-miR-509-3-5p	CLIP-seq
MIRT1426039	hsa-miR-509-5p	CLIP-seq
MIRT1426040	hsa-miR-516b	CLIP-seq
MIRT1426041	hsa-miR-542-3p	CLIP-seq
MIRT1426042	hsa-miR-650	CLIP-seq
MIRT1426043	hsa-miR-885-3p	CLIP-seq
MIRT2127667	hsa-miR-3663-3p	CLIP-seq
MIRT2349399	hsa-miR-1	CLIP-seq
MIRT2349400	hsa-miR-216a	CLIP-seq
MIRT2349401	hsa-miR-4758-3p	CLIP-seq
MIRT2349402	hsa-miR-485-3p	CLIP-seq
MIRT2349403	hsa-miR-613	CLIP-seq
MIRT2461489	hsa-miR-2278	CLIP-seq
MIRT2461490	hsa-miR-3914	CLIP-seq
MIRT2461491	hsa-miR-4508	CLIP-seq
MIRT2461492	hsa-miR-922	CLIP-seq
MIRT2642728	hsa-miR-1225-3p	CLIP-seq
MIRT2642729	hsa-miR-1233	CLIP-seq
MIRT2642730	hsa-miR-1266	CLIP-seq
MIRT2642731	hsa-miR-1294	CLIP-seq
MIRT2642732	hsa-miR-15a	CLIP-seq
MIRT2642733	hsa-miR-15b	CLIP-seq
MIRT2642734	hsa-miR-16	CLIP-seq
MIRT1426009	hsa-miR-1827	CLIP-seq
MIRT2642735	hsa-miR-1909	CLIP-seq
MIRT2642736	hsa-miR-195	CLIP-seq
MIRT2642737	hsa-miR-214	CLIP-seq
MIRT2642738	hsa-miR-2355-5p	CLIP-seq
MIRT2642739	hsa-miR-2682	CLIP-seq
MIRT2642740	hsa-miR-3127-5p	CLIP-seq
MIRT2642741	hsa-miR-3175	CLIP-seq
MIRT1426017	hsa-miR-3616-3p	CLIP-seq
MIRT2642742	hsa-miR-3619-5p	CLIP-seq
MIRT2642743	hsa-miR-3918	CLIP-seq
MIRT2642744	hsa-miR-424	CLIP-seq
MIRT2642745	hsa-miR-4291	CLIP-seq
MIRT2642746	hsa-miR-4302	CLIP-seq
MIRT2642747	hsa-miR-4316	CLIP-seq
MIRT2642748	hsa-miR-4318	CLIP-seq
MIRT1426025	hsa-miR-4436b-3p	CLIP-seq
MIRT2642749	hsa-miR-449c	CLIP-seq
MIRT2642750	hsa-miR-4518	CLIP-seq
MIRT2642751	hsa-miR-4519	CLIP-seq
MIRT1426027	hsa-miR-4640-5p	CLIP-seq
MIRT2642752	hsa-miR-4663	CLIP-seq
MIRT2642753	hsa-miR-4716-3p	CLIP-seq
MIRT1426031	hsa-miR-4721	CLIP-seq
MIRT2642754	hsa-miR-4723-5p	CLIP-seq
MIRT1426033	hsa-miR-4726-5p	CLIP-seq
MIRT2642755	hsa-miR-497	CLIP-seq
MIRT2642756	hsa-miR-539	CLIP-seq
MIRT2642757	hsa-miR-761	CLIP-seq
MIRT2461492	hsa-miR-922	CLIP-seq
MIRT2642728	hsa-miR-1225-3p	CLIP-seq
MIRT2642729	hsa-miR-1233	CLIP-seq
MIRT2642732	hsa-miR-15a	CLIP-seq
MIRT2642733	hsa-miR-15b	CLIP-seq
MIRT2642734	hsa-miR-16	CLIP-seq
MIRT2642735	hsa-miR-1909	CLIP-seq
MIRT2642736	hsa-miR-195	CLIP-seq
MIRT2642737	hsa-miR-214	CLIP-seq
MIRT2461489	hsa-miR-2278	CLIP-seq
MIRT2642741	hsa-miR-3175	CLIP-seq
MIRT2642742	hsa-miR-3619-5p	CLIP-seq
MIRT2642744	hsa-miR-424	CLIP-seq
MIRT2642748	hsa-miR-4318	CLIP-seq
MIRT2461491	hsa-miR-4508	CLIP-seq
MIRT2642752	hsa-miR-4663	CLIP-seq
MIRT2642753	hsa-miR-4716-3p	CLIP-seq
MIRT2642754	hsa-miR-4723-5p	CLIP-seq
MIRT2642755	hsa-miR-497	CLIP-seq
MIRT2642756	hsa-miR-539	CLIP-seq
MIRT2642757	hsa-miR-761	CLIP-seq
MIRT2461492	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IDA	9611778
GO:0004802	Function	Transketolase activity	IBA
GO:0004802	Function	Transketolase activity	IDA	8419340, 9357955, 9611778, 20667822
GO:0004802	Function	Transketolase activity	IEA
GO:0005509	Function	Calcium ion binding	IDA	20667822
GO:0005515	Function	Protein binding	IPI	21044950
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005777	Component	Peroxisome	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006098	Process	Pentose-phosphate shunt	IDA	20667822
GO:0006098	Process	Pentose-phosphate shunt	IEA
GO:0009052	Process	Pentose-phosphate shunt, non-oxidative branch	IBA
GO:0009052	Process	Pentose-phosphate shunt, non-oxidative branch	IEA
GO:0009052	Process	Pentose-phosphate shunt, non-oxidative branch	NAS	9357955
GO:0016604	Component	Nuclear body	IDA
GO:0016740	Function	Transferase activity	IEA
GO:0016744	Function	Transketolase or transaldolase activity	IEA
GO:0019682	Process	Glyceraldehyde-3-phosphate metabolic process	IEA
GO:0030976	Function	Thiamine pyrophosphate binding	IBA
GO:0031982	Component	Vesicle	HDA	19190083
GO:0040008	Process	Regulation of growth	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	9357955, 20667822
GO:0046166	Process	Glyceraldehyde-3-phosphate biosynthetic process	IDA	9611778
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145
GO:1901159	Process	D-xylulose 5-phosphate biosynthetic process	IEA

Other IDs

• MIM: 606781
• HGNC: 11834
• e!Ensembl: ENSG00000163931

Protein

• UniProt ID: P29401
• Protein name: Transketolase (TK) (EC 2.2.1.1)
• Protein function: Catalyzes the transfer of a two-carbon ketol group from a ketose donor to an aldose acceptor, via a covalent intermediate with the cofactor thiamine pyrophosphate.
• PDB: 3MOS, 3OOY, 4KXU, 4KXV, 4KXW, 4KXX, 4KXY, 6HA3, 6HAD, 6RJB, 8WA8, 8WA9, 8WAA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00456	Transketolase_N	14 → 283	Transketolase, thiamine diphosphate binding domain	Domain
  PF02779	Transket_pyr	313 → 478	Transketolase, pyrimidine binding domain	Domain
  PF02780	Transketolase_C	490 → 612	Transketolase, C-terminal domain	Domain

• Sequence:

  MESYHKPDQQKLQALKDTANRLRISSIQATTAAGSGHPTSCCSAAEIMAVLFFHTMRYKS
  QDPRNPHNDRFVLSKGHAAPILYAVWAEAGFLAEAELLNLRKISSDLDGHPVPKQAFTDV
  ATGSLGQGLGAACGMAYTGKYFDKASYRVYCLLGDGELSEGSVWEAMAFASIYKLDNLVA
  ILDINRLGQSDPAPLQHQMDIYQKRCEAFGWHAIIVDGHSVEELCKAFGQAKHQPTAIIA
  KTFKGRGITGVEDKESWHGKPLPKNMAEQIIQEIYSQIQSKKKILATPPQEDAPSVDIAN
  IRMPSLPSYKVGDKIATRKAYGQALAKLGHASDRIIALDGDTKNSTFSEIFKKEHPDRFI
  ECYIAEQNMVSIAVGCATRNRTVPFCSTFAAFFTRAFDQIRMAAISESNINLCGSHCGVS
  IGEDGPSQMALEDLAMFRSVPTSTVFYPSDGVATEKAVELAANTKGICFIRTSRPENAII
  YNNNEDFQVGQAKVVLKSKDDQVTVIGAGVTLHEALAAAELLKKEKINIRVLDPFTIKPL
  DRKLILDSARATKGRILTVEDHYYEGGIGEAVSSAVVGEPGITVTHLAVNRVPRSGKPAE
  LLKMFGIDRDAIAQAVRGLITKA

• Sequence length: 623

Pathways

KEGG:

Pentose phosphate pathway
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids

Reactome:

Insulin effects increased synthesis of Xylulose-5-Phosphate
Pentose phosphate pathway

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
Transketolase deficiency	Pathogenic; Likely pathogenic	rs782092363, rs868953318, rs781905246, rs2471185030	RCV000235885 RCV000236892 RCV000236308 RCV004544223	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOXIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TKT-related disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WERNICKE ENCEPHALOPATHY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	30032820		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	29502067		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29290982, 29599405		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	32490690	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	12376462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24203292, 29271183, 30659097, 30971297, 31545220, 35110545	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	25895698, 31611995		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	27259054	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	26352407	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	19331662		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	19331662		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	29271183	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28950391		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	17351395		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16465194, 36253417, 37644393	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35110545	Stimulate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	31646581		★☆☆☆☆ Found in Text Mining only
Deficiency of glucose-6-phosphate dehydrogenase	Deficiency Of Glucose-6-Phosphate Dehydrogenase	BEFREE	30947742		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27259054	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	23492569, 27103086, 28950391, 30646877		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	23492569, 27103086, 28950391, 30646877		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	30646877	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	31307014		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28032668, 29033370		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	20826743, 23492569, 28950391		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	24114639	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	BEFREE	27103086		★☆☆☆☆ Found in Text Mining only
Diabetic Polyneuropathies	Diabetic polyneuropathy	BEFREE	28032668		★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	27259054	Associate	★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27148686		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29563135		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	39792560	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	27259054	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	33859744	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	27259054	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	27198804	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	18633117, 28950391		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	18633117	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	26352407	Associate	★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	27259054		★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	18393672		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	27198804	Inhibit	★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	7436444		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	35408935	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17321041, 24946162, 30659097, 30971297, 31545220		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	17321041		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29290982, 29599405		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	25895698, 31611995		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16969476		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16465194, 16969476, 18615628, 19290028, 20596653, 20884743, 23893925, 24193262, 26811478, 28665423, 29599405, 31101762, 31611995		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17351395		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	39251709	Stimulate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	24666435	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	18676363		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	24390277		★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	Myeloproliferative Disorder with Eosinophilia	BEFREE	20884743		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	18296915		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	18296915	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16465194, 16969476, 17321041, 18296915, 29502067, 29599405		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	24114639	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	19290028		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	33302647	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	25895698, 31611995		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26884841	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	20035555	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28939041		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	27103086		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30357756	Associate	★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	21854597		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19110265		★☆☆☆☆ Found in Text Mining only
SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS	Short Stature, Developmental Delay, And Congenital Heart Defects	BEFREE	27259054		★☆☆☆☆ Found in Text Mining only
SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS	Short Stature, Developmental Delay, And Congenital Heart Defects	ORPHANET_DG	27259054		★☆☆☆☆ Found in Text Mining only
SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS	Short Stature, Developmental Delay, And Congenital Heart Defects	UNIPROT_DG	27259054		★☆☆☆☆ Found in Text Mining only
SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS	Short Stature, Developmental Delay, And Congenital Heart Defects	GENOMICS_ENGLAND_DG	27259054, 30914295		★☆☆☆☆ Found in Text Mining only
SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS	Short Stature, Developmental Delay, And Congenital Heart Defects	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33859744	Associate	★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16969476		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	33302647	Associate	★☆☆☆☆ Found in Text Mining only
Thiamine Deficiency	Thiamine Deficiency	BEFREE	10466187, 28109775, 30896422, 3558815, 8419340, 9521628		★☆☆☆☆ Found in Text Mining only
Thiamine Deficiency	Thiamine deficiency	Pubtator	31726874	Inhibit	★☆☆☆☆ Found in Text Mining only
Thiamine Deficiency	Thiamine deficiency	Pubtator	3558815	Associate	★☆☆☆☆ Found in Text Mining only
Thiamine responsive megaloblastic anemia syndrome	Thiamine Responsive Megaloblastic Anemia Syndrome	BEFREE	12893755		★☆☆☆☆ Found in Text Mining only
Thiamine responsive megaloblastic anemia syndrome	Thiamine-responsive megaloblastic anemia	Pubtator	12893755	Associate	★☆☆☆☆ Found in Text Mining only
Transketolase deficiency	Transketolase Deficiency	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	8419340, 927453		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29599405		★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 1 (disorder)	Tuberous Sclerosis	BEFREE	20884743		★☆☆☆☆ Found in Text Mining only
Tumors of Adrenal Cortex	Tumors Of Adrenal Cortex	BEFREE	8617775		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	19331662, 30625128	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	28962592	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Wernicke Encephalopathy	Wernicke Encephalopathy	BEFREE	1779244, 8419340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wernicke Encephalopathy	Wernicke Encephalopathy	CTD_human_DG	3762968		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wernicke-Korsakoff Syndrome	Korsakoff psychosis	BEFREE	10466187, 3558815, 7596328, 8419340		★☆☆☆☆ Found in Text Mining only