PDHX (pyruvate dehydrogenase complex component X)

Gene

• Entrez ID: 8050
• Gene name: Pyruvate dehydrogenase complex component X
• Gene symbol: PDHX
• Synonyms (NCBI Gene): DLDBP, E3BP, OPDX, PDHXD, PDX1, proX
• Chromosome: 11
• Chromosome location: 11p13
• Summary: The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35560997	G>C	Benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs113309941	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant, intron variant
rs139052284	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs143131258	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs146876119	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs724159829	G>A	Pathogenic	Intron variant, splice donor variant
rs724159830	G>A	Pathogenic	Splice acceptor variant
rs724159979	C>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs745949756	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs776567343	->C	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs912318281	G>T	Pathogenic	Coding sequence variant, stop gained
rs1057518180	->A	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1135402725	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554989996	ATGACATTAAAGTATCAGTAAATGATTTTATCATCAAGGCAGCAGCTGTTACCCTTAAA>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020386	hsa-miR-29c-3p	Sequencing	20371350
MIRT030260	hsa-miR-26b-5p	Microarray	19088304
MIRT032040	hsa-miR-16-5p	Proteomics	18668040
MIRT032478	hsa-let-7b-5p	Proteomics	18668040
MIRT051324	hsa-miR-15a-5p	CLASH	23622248
MIRT047246	hsa-miR-181b-5p	CLASH	23622248
MIRT044791	hsa-miR-320a	CLASH	23622248
MIRT041546	hsa-miR-193b-3p	CLASH	23622248
MIRT041176	hsa-miR-181d-5p	CLASH	23622248
MIRT471461	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT471459	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT471458	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT471457	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT471456	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT471455	hsa-miR-410-3p	PAR-CLIP	23592263
MIRT471454	hsa-miR-190a-3p	PAR-CLIP	23592263
MIRT471453	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT471461	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT471459	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT471458	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT471457	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT471456	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT471455	hsa-miR-410-3p	PAR-CLIP	23592263
MIRT471454	hsa-miR-190a-3p	PAR-CLIP	23592263
MIRT471453	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT1221364	hsa-miR-1297	CLIP-seq
MIRT1221365	hsa-miR-204	CLIP-seq
MIRT1221366	hsa-miR-211	CLIP-seq
MIRT1221367	hsa-miR-2278	CLIP-seq
MIRT1221368	hsa-miR-26a	CLIP-seq
MIRT1221369	hsa-miR-26b	CLIP-seq
MIRT1221370	hsa-miR-29a	CLIP-seq
MIRT1221371	hsa-miR-29b	CLIP-seq
MIRT1221372	hsa-miR-29c	CLIP-seq
MIRT1221373	hsa-miR-3065-3p	CLIP-seq
MIRT1221374	hsa-miR-3120-3p	CLIP-seq
MIRT1221375	hsa-miR-3938	CLIP-seq
MIRT1221376	hsa-miR-4465	CLIP-seq
MIRT1221377	hsa-miR-4519	CLIP-seq
MIRT1221378	hsa-miR-4755-5p	CLIP-seq
MIRT1221379	hsa-miR-4789-5p	CLIP-seq
MIRT1221380	hsa-miR-518d-5p	CLIP-seq
MIRT1221381	hsa-miR-519b-5p	CLIP-seq
MIRT1221382	hsa-miR-519c-5p	CLIP-seq
MIRT1221383	hsa-miR-520c-5p	CLIP-seq
MIRT1221384	hsa-miR-526a	CLIP-seq
MIRT1221385	hsa-miR-623	CLIP-seq
MIRT1221386	hsa-miR-889	CLIP-seq
MIRT1221364	hsa-miR-1297	CLIP-seq
MIRT1221365	hsa-miR-204	CLIP-seq
MIRT1221366	hsa-miR-211	CLIP-seq
MIRT1221367	hsa-miR-2278	CLIP-seq
MIRT1221368	hsa-miR-26a	CLIP-seq
MIRT1221369	hsa-miR-26b	CLIP-seq
MIRT1221387	hsa-miR-299-5p	CLIP-seq
MIRT1221370	hsa-miR-29a	CLIP-seq
MIRT1221371	hsa-miR-29b	CLIP-seq
MIRT1221372	hsa-miR-29c	CLIP-seq
MIRT1221373	hsa-miR-3065-3p	CLIP-seq
MIRT1221374	hsa-miR-3120-3p	CLIP-seq
MIRT1221388	hsa-miR-3200-5p	CLIP-seq
MIRT1221375	hsa-miR-3938	CLIP-seq
MIRT1221389	hsa-miR-421	CLIP-seq
MIRT1221390	hsa-miR-4257	CLIP-seq
MIRT1221376	hsa-miR-4465	CLIP-seq
MIRT1221377	hsa-miR-4519	CLIP-seq
MIRT1221391	hsa-miR-4682	CLIP-seq
MIRT1221392	hsa-miR-4694-3p	CLIP-seq
MIRT1221393	hsa-miR-4724-3p	CLIP-seq
MIRT1221378	hsa-miR-4755-5p	CLIP-seq
MIRT1221379	hsa-miR-4789-5p	CLIP-seq
MIRT1221394	hsa-miR-4803	CLIP-seq
MIRT1221380	hsa-miR-518d-5p	CLIP-seq
MIRT1221381	hsa-miR-519b-5p	CLIP-seq
MIRT1221382	hsa-miR-519c-5p	CLIP-seq
MIRT1221383	hsa-miR-520c-5p	CLIP-seq
MIRT1221395	hsa-miR-520f	CLIP-seq
MIRT1221384	hsa-miR-526a	CLIP-seq
MIRT1221396	hsa-miR-548c-3p	CLIP-seq
MIRT1221397	hsa-miR-582-5p	CLIP-seq
MIRT1221398	hsa-miR-584	CLIP-seq
MIRT1221385	hsa-miR-623	CLIP-seq
MIRT1221386	hsa-miR-889	CLIP-seq
MIRT1221399	hsa-miR-944	CLIP-seq
MIRT1552196	hsa-miR-3609	CLIP-seq
MIRT1552197	hsa-miR-548ah	CLIP-seq
MIRT1552198	hsa-miR-548n	CLIP-seq
MIRT1552199	hsa-miR-548t	CLIP-seq
MIRT2063890	hsa-miR-337-3p	CLIP-seq
MIRT2063891	hsa-miR-3685	CLIP-seq
MIRT2063892	hsa-miR-382	CLIP-seq
MIRT2063893	hsa-miR-384	CLIP-seq
MIRT2063894	hsa-miR-4436b-5p	CLIP-seq
MIRT2063895	hsa-miR-485-3p	CLIP-seq
MIRT2292395	hsa-miR-4795-3p	CLIP-seq
MIRT2063895	hsa-miR-485-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PAX6	Repression	12783165

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004742	Function	Dihydrolipoyllysine-residue acetyltransferase activity	IDA	9242632
GO:0005515	Function	Protein binding	IPI	16263718, 16442803, 21516116, 25416956, 25525879, 28514442, 31515488, 32296183, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	24534072
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IC	9242632
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IDA	24534072
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IEA
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	ISS
GO:0016746	Function	Acyltransferase activity	IEA
GO:0045254	Component	Pyruvate dehydrogenase complex	IBA
GO:0045254	Component	Pyruvate dehydrogenase complex	IDA	9242632, 25525879
GO:0045254	Component	Pyruvate dehydrogenase complex	IEA
GO:0045254	Component	Pyruvate dehydrogenase complex	IPI	19240034
GO:0045254	Component	Pyruvate dehydrogenase complex	ISS

Other IDs

• MIM: 608769
• HGNC: 21350
• e!Ensembl: ENSG00000110435

Protein

• UniProt ID: O00330
• Protein name: Pyruvate dehydrogenase protein X component, mitochondrial (Dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex) (E3-binding protein) (E3BP) (Lipoyl-containing pyruvate dehydrogenase complex component X) (proX)
• Protein function: Required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2) core of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional PDH complex.
• PDB: 1ZY8, 2DNC, 2F5Z, 2F60, 6H60
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00364	Biotin_lipoyl	57 → 131	Biotin-requiring enzyme	Domain
  PF02817	E3_binding	182 → 217	e3 binding domain	Family
  PF00198	2-oxoacid_dh	272 → 501	2-oxoacid dehydrogenases acyltransferase (catalytic domain)	Domain

• Sequence:

  MAASWRLGCDPRLLRYLVGFPGRRSVGLVKGALGWSVSRGANWRWFHSTQWLRGDPIKIL
  MPSLSPTMEEGNIVKWLKKEGEAVSAGDALCEIETDKAVVTLDASDDGILAKIVVEEGSK
  NIRLGSLIGLIVEEGEDWKHVEIPKDVGPPPPVSKPSEPRPSPEPQISIPVKKEHIPGTL
  RFRLSPAARNILEKHSLDASQGTATGPRGIFTKEDALKLVQLKQTGKITESRPTPAPTAT
  PTAPSPLQATAGPSYPRPVIPPVSTPGQPNAVGTFTEIPASNIRRVIAKRLTESKSTVPH
  AYATADCDLGAVLKVRQDLVKDDIKVSVNDFIIKAAAVTLKQMPDVNVSWDGEGPKQLPF
  IDISVAVATDKGLLTPIIKDAAAKGIQEIADSVKALSKKARDGKLLPEEYQGGSFSISNL
  GMFGIDEFTAVINPPQACILAVGRFRPVLKLTEDEEGNAKLQQRQLITVTMSSDSRVVDD
  ELATRFLKSFKANLENPIRLA

• Sequence length: 501

Pathways

KEGG:

Metabolic pathways

Reactome:

Regulation of pyruvate dehydrogenase (PDH) complex
Glyoxylate metabolism and glycine degradation
Signaling by Retinoic Acid
Pyruvate metabolism

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
Pyruvate dehydrogenase E1-alpha deficiency	Likely pathogenic	rs1158194122	RCV000721986	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pyruvate dehydrogenase E3-binding protein deficiency	Likely pathogenic; Pathogenic	rs766377898, rs1554989996, rs724159828, rs724159829, rs724159830, rs724159979, rs113309941, rs1135402725, rs758020436, rs2494708862, rs2494744424, rs763473883, rs756985515, rs11539201, rs1057518180, rs1064796807, rs776567343, rs143131258, rs756023441	RCV005225436 RCV000002193 RCV000002194 RCV000002195 RCV000002196 RCV000002197 RCV000002199 RCV000149582 RCV004526962 RCV002810036 RCV003148160 RCV003227587 RCV004765920 RCV003986041 RCV001782890 RCV000762841 RCV001782961 RCV005603666 RCV001197626	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial disease	Uncertain significance	ClinVar ClinGen, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PDHX-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pyruvate dehydrogenase complex deficiency	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acidosis Lactic	Lactic acidosis	Pubtator	25087164	Associate	★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	18665037, 26408346, 29809170, 31276933		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	18855980		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	20886630, 29309817, 31428515		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	28348116		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	28918929, 29542001		★☆☆☆☆ Found in Text Mining only
Annular pancreas	Annular pancreas	BEFREE	29317564		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	22945649, 23102107, 23887057, 23980075, 24462734, 24469904, 25719829, 26279302, 27494892, 27659014, 28092668, 29050937, 29298796, 29309817, 30293872, 30371656, 30989379, 31440095		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	19901909, 28375156		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	19758361		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	19228875	Associate	★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	LHGDN	16629643		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	20002125	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17007882, 22961564, 30012170		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30012170	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cancer Pain	Cancer	Pubtator	21194677	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	14960508, 30310259, 31261501	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	21228366	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	21297446, 26695692, 32580737	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21056906		★☆☆☆☆ Found in Text Mining only
Carcinoma, Pancreatic Ductal	Pancreatic Ductal Carcinoma	BEFREE	17161985		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	10895036		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	18506375		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	35076175	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	22594685		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	18855980	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18855980		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	18855980		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18855980, 24023782, 24935220, 30999858, 35169223, 35260172	Associate	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	24446421		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	BEFREE	16353670, 9280302		★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	9280302	Inhibit	★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of pancreas	Pancreatic hypoplasia	BEFREE	23320570		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of pancreas	Pancreatic hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital lactic acidosis	Congenital lactic acidosis	BEFREE	25087164, 9399911		★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	LHGDN	17957487		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	22523087, 33092611	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10230653, 10868949, 11130726, 11202217, 11246894, 11270685, 11467342, 11590126, 11692168, 11756345, 12242469, 14764823, 15001545, 15277425, 17003361, 17131142, 17317781, 17449132, 18360684, 20009086, 20479245, 20978346, 21029295, 22570331, 22879915, 27053234, 27879214, 28261303, 28268202, 28436541, 28738518, 29396371, 30523046, 30930126, 31382473, 31682591, 9472859, 9649577		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	36313769	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10230653, 10868949, 11130726, 11202217, 11246894, 11270685, 11467342, 11590126, 11692168, 11717395, 11756345, 11834421, 12242469, 14764823, 15001545, 15277425, 17003361, 17131142, 17317781, 17449132, 18360684, 19245309, 20009086, 20479245, 20978346, 21029295, 22570331, 22879915, 25201603, 27053234, 27879214, 28261303, 28268202, 28290604, 28436541, 28738518, 29396371, 30523046, 30930126, 31382473, 31682591, 9472859, 9628281, 9649577		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	10545531, 16229747, 19496967, 20621032, 22570331, 25375650, 27879214, 28436541, 29107594, 29317564, 29396371, 30930126, 31366392, 33795639, 34732801, 36208030, 36496541, 37652665, 38408297	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes mellitus autosomal dominant type II (disorder)	Diabetes Mellitus	BEFREE	10545531		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Permanent Neonatal	Neonatal diabetes mellitus	Pubtator	19496967, 23320570	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Transient Neonatal 1	Diabetes mellitus transient neonatal	Pubtator	23320570, 28436541	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	19228875, 23696946, 32882526, 34344789	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	10545530, 10545531, 19843526, 20621032, 26287533, 27879211, 27879214, 28095440, 28436541, 28934129, 29185012, 30449689, 31322178, 32882526, 34135026, 34373539, 34696776, 36208030, 36718853, 36723869, 37652665	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	22570331, 28041957	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	17131142, 17615265, 19901909, 28241993, 30997693, 9628281		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	LHGDN	17131142		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10491763, 10545530, 10545531, 10720084, 10868855, 11022198, 11058894, 11270685, 11692168, 11914043, 11994901, 14764823, 15001545, 15277425, 15754742, 16092045, 16229747, 16917892, 17003361, 17592437, 18360684, 18718916, 20621032, 20978346, 21569088, 21821004, 22570331, 23463236, 23863625, 24464100, 26058934, 27615141, 27879211, 27879214, 28041957, 28432716, 30190170, 30449689, 31201281, 31349381, 9628281, 9649577		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	16123366, 24464100		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	17327436		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	CLINVAR_DG	12970316, 20009086		★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	ORPHANET_DG	22498247		★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	BEFREE	29317564		★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	10545531	Associate	★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	27494892		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	20002125		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	17342311		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	17342311		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	36889194	Associate	★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	BEFREE	20009086, 23320570, 29317564		★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	23627894, 27899417		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	29317564	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	LHGDN	14631368		★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	14631368	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	26027833	Associate	★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	15303005		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	16894468, 17143557		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	10545530, 31366392	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	10909415, 12173691, 12503852, 19757377, 21821004, 22570331, 22879915, 23671681, 28580283, 28705881, 30215691, 30266298		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	22570331	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia	Hyperinsulinemic hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	20621032, 29524422, 31207434		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	20621032	Associate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	14631368	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	25813534	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	25813534		★☆☆☆☆ Found in Text Mining only
Hypoinsulinaemia (disorder)	Hypoinsulinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	35563422	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	30930126	Associate	★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	11854618, 15706433, 19307926, 19901909, 20479245, 20978346, 22114719, 22669743, 29309817, 30590691		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	25087164	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Diseases	Intestinal disease	Pubtator	14960508	Associate	★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	23828595		★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	22669743		★☆☆☆☆ Found in Text Mining only
Juvenile polyposis syndrome	Polyposis Syndrome	BEFREE	22748914		★☆☆☆☆ Found in Text Mining only
Ketonuria	Ketonuria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	12208141, 16566017, 30981218		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	30981218	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15818739		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	15818739		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	21194677	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21194677		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	17552012, 28951630	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17007882, 22961564, 30012170		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	17342311		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	15706433		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	14746841, 15457366, 17161985, 18665085, 18815537, 20886630, 23102107, 23828595, 24457987, 24839931, 25454709, 25596375, 28715967, 28971839, 29309817, 29464045, 29683461, 29956804, 30306263, 30956167, 31261501		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CTD_human_DG	19077462, 25086665, 26098869		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	20622005, 30310259, 31789399		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15706433, 18477649, 20886630, 22594685, 25454709, 31440095		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	30012170		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	10230653, 10417964, 10545530, 10545531, 10720084, 10868855, 10868948, 11058894, 11272211, 11590126, 11994901, 12503852, 14764823, 15001545, 15754742, 15955369, 16917892, 18331410, 21521318, 22570331, 27879211, 27879214, 28436541, 29396371, 31322178, 31595705, 9472859, 9736233, 9920109		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	ORPHANET_DG	21844708, 22498247		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION	Mason type diabetes	BEFREE	31333579		★☆☆☆☆ Found in Text Mining only
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)	Mason type diabetes	BEFREE	11834421, 20978346, 28436541		★☆☆☆☆ Found in Text Mining only
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)	Mason type diabetes	CTD_human_DG	21115832		★☆☆☆☆ Found in Text Mining only
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)	Mason type diabetes	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)	Mason type diabetes	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30177467		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	19361803		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
MODY	Mason type diabetes	Orphanet			★☆☆☆☆ Found in Text Mining only
Monogenic diabetes	Monogenic Diabetes	BEFREE	28436541, 29107594		★☆☆☆☆ Found in Text Mining only
Monogenic diabetes	Monogenic Diabetes	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	LHGDN	19208834		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	16894468, 19361803		★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	12503852, 19496967, 20009086, 23320570		★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11208826, 14681205, 18477649, 18855980, 20886630, 22961564, 26408346, 27354473, 27367029, 28123387, 7937976, 8106627		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	LHGDN	19208834		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	28498280		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	20621032, 30523046		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	20621032, 32456644, 36714595	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	35183219	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian mucinous tumor	Ovarian mucinous tumor	BEFREE	18665037		★☆☆☆☆ Found in Text Mining only
PANCREATIC AGENESIS 1	Congenital Pancreatic Agenesis	GENOMICS_ENGLAND_DG	2970316		★☆☆☆☆ Found in Text Mining only
PANCREATIC AGENESIS 1	Congenital Pancreatic Agenesis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Agenesis, Congenital	Congenital Pancreatic Agenesis	ORPHANET_DG	8988180		★☆☆☆☆ Found in Text Mining only
Pancreatic Agenesis, Congenital	Congenital Pancreatic Agenesis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	14746841, 15457366, 17161985, 18665085, 18815537, 20886630, 22594685, 23102107, 23828595, 24457987, 24839931, 25454709, 25596375, 28715967, 28971839, 29309817, 29464045, 29683461, 29956804, 30306263, 30956167, 31261501		★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic diseases	Pubtator	21297446	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	15457366, 22113502, 23102107, 23828595, 23980075, 24216479, 28087712, 28510280, 31074083, 31440095		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	12947327, 18665085		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CTD_human_DG	19077462, 25086665, 26098869		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	23980075, 26279302, 26408346, 27779106, 29521941, 30130629		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	10545531, 17552012, 21099298, 21297446, 29107594, 31261501, 31917448, 32456644, 32907841, 33849943, 35227293	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	14631368, 22136171, 28436541, 30359326, 32456644, 33198821	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	28765528		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	20467340, 22266668, 25839229		★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	15457366, 22113502, 23828595, 28087712, 30515799		★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Permanent neonatal diabetes mellitus	Diabetes Mellitus	Orphanet			★☆☆☆☆ Found in Text Mining only
POLYCYSTIC KIDNEY DISEASE 1	Polycystic kidney disease	BEFREE	1349570		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	10385634, 10385636, 11050037		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18754323		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29985747	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pyruvate Dehydrogenase Complex Deficiency Disease	Pyruvate Dehydrogenase Complex Deficiency Disease	BEFREE	12557299, 16566017, 16843025, 16904023, 27343776		★☆☆☆☆ Found in Text Mining only
Pyruvate Dehydrogenase E1 Alpha Deficiency	Pyruvate Dehydrogenase Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Pyruvate Dehydrogenase Deficiency	GENOMICS_ENGLAND_DG	12557299, 25087164		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Pyruvate Dehydrogenase Deficiency	ORPHANET_DG	9399911		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pyruvate dehydrogenase E3-binding protein deficiency	Pyruvate Dehydrogenase Deficiency	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Pyruvate Dehydrogenase Deficiency	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Pyruvate Dehydrogenase Deficiency	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal tubular disorder	Renal Tubular Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	20886630		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	31276933		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	17342311		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20622005, 30310259, 31789399		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	14960508, 20622005, 30310259, 37800836	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18477649		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Transient neonatal diabetes mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only