UGT1A1 (UDP glucuronosyltransferase family 1 member A1)

Gene

• Entrez ID: 54658
• Gene name: UDP glucuronosyltransferase family 1 member A1
• Gene symbol: UGT1A1
• Synonyms (NCBI Gene): BILIQTL1, GNT1, HUG-BR1, UDPGT, UDPGT 1-1, UGT1, UGT1A
• Chromosome: 2
• Chromosome location: 2q37.1
• Summary: This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a comp

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1473325	hsa-miR-1202	CLIP-seq
MIRT1473326	hsa-miR-136	CLIP-seq
MIRT1473327	hsa-miR-3120-5p	CLIP-seq
MIRT1473328	hsa-miR-3130-3p	CLIP-seq
MIRT1473329	hsa-miR-3194-5p	CLIP-seq
MIRT1473330	hsa-miR-346	CLIP-seq
MIRT1473331	hsa-miR-3909	CLIP-seq
MIRT1473332	hsa-miR-3940-5p	CLIP-seq
MIRT1473333	hsa-miR-3972	CLIP-seq
MIRT1473334	hsa-miR-4288	CLIP-seq
MIRT1473335	hsa-miR-4421	CLIP-seq
MIRT1473336	hsa-miR-4507	CLIP-seq
MIRT1473337	hsa-miR-4766-5p	CLIP-seq
MIRT1473338	hsa-miR-4793-3p	CLIP-seq
MIRT1473339	hsa-miR-489	CLIP-seq
MIRT1473340	hsa-miR-514	CLIP-seq
MIRT1473341	hsa-miR-514b-3p	CLIP-seq
MIRT1473342	hsa-miR-548a-5p	CLIP-seq
MIRT1473343	hsa-miR-548ab	CLIP-seq
MIRT1473344	hsa-miR-548ak	CLIP-seq
MIRT1473345	hsa-miR-548b-5p	CLIP-seq
MIRT1473346	hsa-miR-548c-5p	CLIP-seq
MIRT1473347	hsa-miR-548d-5p	CLIP-seq
MIRT1473348	hsa-miR-548h	CLIP-seq
MIRT1473349	hsa-miR-548i	CLIP-seq
MIRT1473350	hsa-miR-548j	CLIP-seq
MIRT1473351	hsa-miR-548n	CLIP-seq
MIRT1473352	hsa-miR-548w	CLIP-seq
MIRT1473353	hsa-miR-548y	CLIP-seq
MIRT1473354	hsa-miR-559	CLIP-seq
MIRT1473355	hsa-miR-629	CLIP-seq
MIRT1473356	hsa-miR-632	CLIP-seq
MIRT2142600	hsa-miR-579	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
AHR	Activation	18172616
HNF1A	Activation	18172616
NR1I2	Activation	18172616
NR1I3	Activation	18172616
NR1I3	Unknown	11343253
NR3C1	Activation	18172616
NR3C1	Unknown	15557560

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001972	Function	Retinoic acid binding	IDA	20308471
GO:0004857	Function	Enzyme inhibitor activity	IDA	19996319
GO:0004857	Function	Enzyme inhibitor activity	ISS	20610558
GO:0005496	Function	Steroid binding	IDA	19996319
GO:0005515	Function	Protein binding	IPI	20610558, 27025983, 27857056, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	17179145
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	NAS	20610558
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IKR	20610558
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	20610558
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006789	Process	Bilirubin conjugation	TAS	1339448
GO:0006805	Process	Xenobiotic metabolic process	IC	19996319
GO:0006805	Process	Xenobiotic metabolic process	IDA	20056724
GO:0006805	Process	Xenobiotic metabolic process	IKR	20610558
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0008194	Function	UDP-glycosyltransferase activity	IEA
GO:0008202	Process	Steroid metabolic process	IC	19996319
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008210	Process	Estrogen metabolic process	IDA	15472229, 18719240, 19830808
GO:0008210	Process	Estrogen metabolic process	TAS
GO:0009812	Process	Flavonoid metabolic process	IDA	20056724
GO:0015020	Function	Glucuronosyltransferase activity	IDA	1898728, 15231852, 15472229, 17179145, 18052087, 18719240, 19830808, 19996319, 20056724, 20308471, 21422672, 22579593, 38211441
GO:0015020	Function	Glucuronosyltransferase activity	IEA
GO:0015020	Function	Glucuronosyltransferase activity	IKR	20610558
GO:0015020	Function	Glucuronosyltransferase activity	ISS	20610558
GO:0015020	Function	Glucuronosyltransferase activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0019899	Function	Enzyme binding	IBA
GO:0019899	Function	Enzyme binding	IEA
GO:0019899	Function	Enzyme binding	IPI	17179145, 20610558
GO:0034663	Component	Endoplasmic reticulum chaperone complex	IEA
GO:0042573	Process	Retinoic acid metabolic process	IC	20308471
GO:0042803	Function	Protein homodimerization activity	IDA	17179145
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0045922	Process	Negative regulation of fatty acid metabolic process	ISS	20610558
GO:0045939	Process	Negative regulation of steroid metabolic process	IC	19996319
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	20610558
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051552	Process	Flavone metabolic process	IDA	18052087

Other IDs

• MIM: 191740
• HGNC: 12530
• e!Ensembl: ENSG00000241635

Protein

• UniProt ID: P22309
• Protein name: UDP-glucuronosyltransferase 1A1 (UGT1A1) (EC 2.4.1.17) (Bilirubin-specific UDPGT isozyme 1) (hUG-BR1) (UDP-glucuronosyltransferase 1-1) (UDPGT 1-1) (UGT1*1) (UGT1-01) (UGT1.1) (UDP-glucuronosyltransferase 1A isoform 1)
• Protein function: [Isoform 1]: UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion i
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00201	UDPGT	28 → 524	UDP-glucoronosyl and UDP-glucosyl transferase	Family

• Tissue specificity: TISSUE SPECIFICITY: [Isoform 1]: Expressed in liver, colon and small intestine. Not expressed in kidney, esophagus and skin. {ECO:0000269|PubMed:1339448, ECO:0000269|PubMed:17187418, ECO:0000269|PubMed:18004212}.; TISSUE SPECIFICITY: [Isoform 2]: Expresse
• Sequence:

  MAVESQGGRPLVLGLLLCVLGPVVSHAGKILLIPVDGSHWLSMLGAIQQLQQRGHEIVVL
  APDASLYIRDGAFYTLKTYPVPFQREDVKESFVSLGHNVFENDSFLQRVIKTYKKIKKDS
  AMLLSGCSHLLHNKELMASLAESSFDVMLTDPFLPCSPIVAQYLSLPTVFFLHALPCSLE
  FEATQCPNPFSYVPRPLSSHSDHMTFLQRVKNMLIAFSQNFLCDVVYSPYATLASEFLQR
  EVTVQDLLSSASVWLFRSDFVKDYPRPIMPNMVFVGGINCLHQNPLSQEFEAYINASGEH
  GIVVFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDL
  LGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKRMETKGAGVTLNVLEMTS
  EDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHD
  LTWYQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH

• Sequence length: 533

Pathways

KEGG:

Pentose and glucuronate interconversions
Ascorbate and aldarate metabolism
Steroid hormone biosynthesis
Retinol metabolism
Porphyrin metabolism
Metabolism of xenobiotics by cytochrome P450
Drug metabolism - cytochrome P450
Drug metabolism - other enzymes
Metabolic pathways
Biosynthesis of cofactors
Bile secretion
Chemical carcinogenesis - DNA adducts
Chemical carcinogenesis - receptor activation

Reactome:

Glucuronidation
Defective UGT1A1 causes hyperbilirubinemia

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
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1	Likely pathogenic; Pathogenic	rs2126038220, rs1424603943, rs2472950680, rs72551349, rs587776762, rs587776764, rs587776765, rs34993780, rs111033541, rs72551343, rs1559415403	RCV005017162 RCV005021796 RCV005021819 RCV005016257 RCV005025046 RCV005025047 RCV005025048 RCV000763480 RCV002496334 RCV005018862 RCV005021140	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Crigler-Najjar syndrome	Pathogenic; Likely pathogenic	rs367897068, rs72551353, rs72551340, rs1553620849, rs766536479, rs72551343, rs139607673	RCV003229499 RCV003387719 RCV000501478 RCV000503758 RCV000500693 RCV000503589 RCV000503685	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Crigler-Najjar syndrome type 1	Likely pathogenic; Pathogenic	rs2126038220, rs2125989471, rs1424603943, rs797046091, rs2472950680, rs748219743, rs587776761, rs72551353, rs111033539, rs72551349, rs587776762, rs62625011, rs281865418, rs587776763, rs587776764, rs587776765, rs587776766, rs34993780, rs111033541, rs2473171944, rs56059937, rs72551343, rs1559415403	RCV005017162 RCV002262166 RCV005021796 RCV001450051 RCV005021819 RCV000256423 RCV000013053 RCV000013054 RCV000013055 RCV000013056 RCV000013059 RCV000013060 RCV000013061 RCV000013067 RCV000013068 RCV000013069 RCV000013070 RCV000763480 RCV002496334 RCV003989472 RCV004771551 RCV005018862 RCV005021140	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Crigler-Najjar syndrome, type II	Pathogenic; Likely pathogenic	rs72551345, rs2126038220, rs2125989471, rs1424603943, rs200370335, rs2472950680, rs72551349, rs587776762, rs587776764, rs587776765, rs34993780, rs111033541, rs2472956769, rs2473171944, rs72551343, rs1559415403	RCV001808119 RCV005017162 RCV002262166 RCV005021796 RCV003108246 RCV005021819 RCV005016257 RCV005025046 RCV005025047 RCV005025048 RCV000013074 RCV000013081 RCV003388672 RCV003989472 RCV001727734 RCV005021140	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gilbert syndrome	Likely pathogenic; Pathogenic	rs1373930486, rs2125987779, rs1169717734, rs2126038122, rs2125981899, rs2126038220, rs2125989471, rs1424603943, rs2472950680, rs748219743, rs72551349, rs587776762, rs62625011, rs587776764, rs587776765, rs34993780, rs111033541, rs2473171944, rs56059937, rs72551343, rs1559406508, rs1559415403	RCV004720320 RCV002221188 RCV002221190 RCV002221172 RCV002226966 RCV002246803 RCV002262166 RCV005021796 RCV005021819 RCV003445825 RCV000013057 RCV005025046 RCV002247330 RCV005025047 RCV005025048 RCV000763480 RCV002496334 RCV003989472 RCV004577298 RCV005018862 RCV000999559 RCV005021140	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperbilirubinemia	Likely pathogenic; Pathogenic	rs587784535, rs797046090, rs797046091, rs34993780	RCV000147893 RCV000193803 RCV000194838 RCV000147900	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lucey-Driscoll syndrome	Likely pathogenic; Pathogenic	rs2126038220, rs2125989471, rs1424603943, rs2472950680, rs72551349, rs587776762, rs587776764, rs587776765, rs34993780, rs3755319, rs111033541, rs2473171944, rs72551343, rs1559415403	RCV005017162 RCV002262166 RCV005021796 RCV005021819 RCV005016257 RCV005025046 RCV005025047 RCV005025048 RCV000013073 RCV000013075 RCV002496334 RCV003989472 RCV005018862 RCV005021140	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
UGT1A1-related disorder	Likely pathogenic; Pathogenic	rs775463336, rs1476500325, rs1559414817, rs1697605792, rs797046090, rs797046091, rs748219743, rs72551349, rs62625011, rs34993780, rs1697345011, rs72551343, rs1559406508, rs1559415403	RCV004738384 RCV004536348 RCV002280264 RCV004538860 RCV004541254 RCV004545759 RCV004535243 RCV004737145 RCV004737146 RCV004540998 RCV004531667 RCV004527613 RCV004545798 RCV004737991	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCULUS OF BILE DUCT WITHOUT MENTION OF CHOLECYSTITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SMALL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLECYSTOLITHIASIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTACT DERMATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRIGLER NAJJAR SYNDROME, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRIGLER NAJJAR SYNDROME, TYPE 2	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRIGLER-NAJJAR SYNDROME TYPE 2	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRIGLER-NAJJAR SYNDROME, TYPE I	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHNS DISEASE OF LARGE BOWEL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, CONTACT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GILBERT DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKIN DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERBILIRUBINEMIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERBILIRUBINEMIA, NEONATAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
irinotecan response - Toxicity	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERINATAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSIENT FAMILIAL NEONATAL HYPERBILIRUBINEMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acromegaly	Acromegaly	BEFREE	20207827		★☆☆☆☆ Found in Text Mining only
Acute Kidney Insufficiency	Acute Kidney Insufficiency	CTD_human_DG	3864191		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	25105254, 25855413		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	30016963		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	9765507		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	23595344		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	22367021		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	26091520		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	19077918		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	28393244		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	25105254		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	30016963		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	18768784, 22475179		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	CTD_human_DG	18768784		★☆☆☆☆ Found in Text Mining only
Allergic sensitization	Allergic Sensitization	BEFREE	31513587		★☆☆☆☆ Found in Text Mining only
alpha Thalassemia	Alpha thalassemia	Pubtator	16628735, 32751969	Associate	★☆☆☆☆ Found in Text Mining only
Alpha trait thalassemia	alpha Thalassemia	BEFREE	28567595		★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	16628735, 17593033, 18392554, 23606168, 27557546, 27981643, 28567595		★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	16628735, 17593033, 18392554, 23606168, 27557546, 27981643, 28567595		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	21255081, 21309756, 29115431		★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	34672909	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	15388579, 16628735, 17593033, 18392554, 18756540, 22558097, 23827693, 24060717, 24167350, 24204915, 26146896, 31619193	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	17426648, 21275655, 22558097, 23517300		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	11878580, 12677174, 12850481, 15710570, 16628735, 17593033, 18392554, 18756540, 22558097, 24167350, 24204915, 26146896, 27981643, 28567595, 29114966, 31619193		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	LHGDN	12677174, 12850481, 15710570, 18756540		★☆☆☆☆ Found in Text Mining only
Asthenia	Asthenia	Pubtator	29504153	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	25192553		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29955115		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	24057187		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	11843828, 24204915, 9375768, 9375769	Associate	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	18081723, 19021734, 20709051, 9375768		★☆☆☆☆ Found in Text Mining only
Beta thalassemia intermedia	beta Thalassemia	BEFREE	20709051		★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	18081723, 20709051, 9375768		★☆☆☆☆ Found in Text Mining only
Bile Duct Diseases	Bile duct disease	Pubtator	40184140	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	26229432, 30645764		★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	26229432	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19880377, 20972438, 22228101, 23632476, 26374428, 28696839		★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	21486535, 23892411	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10706110, 11170257, 11401924, 15111762, 16280036, 16399374, 17909964, 17949292, 18798070, 20087647, 20799965, 21902811, 22199302, 22418777, 23935996, 25648141, 27496708, 27525948		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15318931, 20799965	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15318931, 16280036, 17909964, 25996841, 27525948, 28178648, 34886806	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	26666247		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	26666247	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25712374	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	22450351	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	27690298		★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	26091520	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22447115, 23382909, 25288013, 26010150	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25366484	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19880377, 20972438, 22228101, 23632476, 23752272, 26374428, 28696839		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	21351260, 26751466		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16399374, 20377135, 27832386, 28502040, 29052349, 31685767		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	26091520	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27491898, 31007253, 36571650, 38131663	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	34887858, 35328047	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	15254716, 16399374, 26091520, 26125934, 28540621		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	17000907, 18343383, 20693308, 22416852, 31054979		★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney Complex	BEFREE	31611795		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	39978853	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	20948202		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	18375480		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	25105254		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	9230212		★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	40184140	Associate	★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	10753261, 11425418, 11843828, 11878580, 12677174, 14555305, 14555319, 16557566, 17593033, 19309288, 20837016, 21319362, 21538282, 23340007, 23517300, 26146896, 31619193		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choledocholithiasis	Choledocholithiasis	BEFREE	19486253		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	10753261, 11425418, 11843828, 11878580, 12677174, 14555305, 14555319, 15710570, 16237771, 16557566, 16628735, 17593033, 18081723, 18392554, 19021734, 19309288, 20837016, 21319362, 21538282, 23340007, 23517300, 23753274, 24167350, 24204915, 26146896, 27981643, 28567595, 31602632, 31619193		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholelithiasis	Cholecystolithiasis	Pubtator	11843828, 16237771, 16628735, 17593033, 22558097, 23207817, 24167350, 24204915, 26146896, 31602632, 32751969	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholelithiasis	Cholelithiasis	LHGDN	15710570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholelithiasis	Pubtator	23756370	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	29867509		★☆☆☆☆ Found in Text Mining only
Cholesterol gallstones	Cholesterol gallstones	BEFREE	23517300		★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	20643254		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	21617725		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	24458221		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	40184140	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	17016579, 18675828, 19997083, 22559738, 24677636, 26098842, 28049773, 29519853, 31621310		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	17510208, 18675828		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	28049773		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	28049773, 32293332	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15929176, 18300238, 18466101, 19059062, 19125129, 19364970, 19450125, 19644023, 20028383, 20038727, 20628391, 20661248, 20957480, 20965940, 21287524, 21310730, 21486535, 22212955, 22559977, 23236239, 23516488, 23529007, 23575887, 23892411, 24195516, 24403462, 24677636, 24822274, 25210794, 25260839, 25545261, 25686853, 25880011, 26027741, 26710796, 26739304, 27220761, 27461651, 30377777, 30583998		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15280927, 15929176, 18594531, 18675828, 18797458, 19125128, 19859999, 20028383, 20096102, 20628391, 21171088, 21287524, 21486535, 21654688, 23236239, 23386248, 23468910, 23575887, 23892411, 24033692, 24244442, 24822274, 25210794, 25545261, 25778466, 25782327, 25834402, 26710796, 26811156, 27122675, 27461651, 27938508, 28049773, 28278081, 28637434, 29085228, 29358861, 30377777, 31533552, 32264830, 32323779, 32829105, 32878631, 33035787, 34327766, 35177165, 35226656, 35340156, 35822291	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	15297419, 15929176, 17273745		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	24458221		★☆☆☆☆ Found in Text Mining only
Congenital dyserythropoietic anemia, type II	Congenital dyserythropoietic anemia	BEFREE	10753261		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	20643254		★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	36878495	Associate	★☆☆☆☆ Found in Text Mining only
Contact Dermatitis	Dermatitis	CTD_human_DG	25724174		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27491898, 29524031		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	17000907, 18790042, 19861894, 22074434		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	17000907, 17952380, 18790042, 19238116, 19861894, 22074434		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	17952380, 18790042	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	17000907, 18790042, 19861894, 22074434		★☆☆☆☆ Found in Text Mining only
Crigler Najjar syndrome type 2	Crigler-najjar syndrome	Pubtator	16269258, 17098698, 21319362, 24065680, 24401909, 25319636, 29137095, 30285761, 30544479, 31142299, 35436954, 9639672	Associate	★☆☆☆☆ Found in Text Mining only
Crigler Najjar syndrome, type 1	Crigler-Najjar syndrome	BEFREE	11013440, 11061796, 11855932, 12378576, 14616765, 15378351, 16337205, 16386929, 16399340, 17196409, 18180294, 18281749, 19845429, 20546738, 22340355, 22765254, 23089802, 23290513, 23403257, 23947957, 23992562, 24286076, 24793765, 25729974, 25966095, 26074313, 26220753, 26676689, 26697581, 27830550, 28213806, 29085579, 29176474, 29448836, 30112420, 30285761, 30544479, 30985583, 31142299, 31145902, 31247186, 31495946, 31553814, 7614251, 7906695, 7936809, 7989045, 8027054, 8102509, 8280139, 9039987, 9156798, 9435989		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crigler Najjar syndrome, type 1	Crigler-Najjar syndrome	UNIPROT_DG	11013440, 15712364, 1634050, 17229650, 19830808, 23992562, 7906695, 7989045, 7989595, 8226884		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crigler Najjar syndrome, type 1	Crigler-Najjar syndrome	GENOMICS_ENGLAND_DG	11013440, 24816252, 9295054		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crigler Najjar syndrome, type 1	Crigler-Najjar syndrome	CLINVAR_DG	11182932, 15712364, 26697581		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crigler Najjar syndrome, type 1	Crigler-Najjar syndrome	LHGDN	11855932, 12480568, 14550264, 14616765, 18419642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crigler Najjar syndrome, type 1	Crigler-Najjar syndrome	CTD_human_DG	25370011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crigler Najjar syndrome, type 1	Crigler-Najjar syndrome	ORPHANET_DG	9039987, 9497253		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crigler Najjar syndrome, type 2	Crigler-Najjar syndrome	GENOMICS_ENGLAND_DG	11013440, 24816252		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crigler Najjar syndrome, type 2	Crigler-Najjar syndrome	UNIPROT_DG	11013440, 11370628, 12402338, 14550264, 15712364, 17229650, 18004206, 19830808, 23099197, 23992562, 7989595, 8276413, 8280139, 8706880, 9621515, 9639672		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crigler Najjar syndrome, type 2	Crigler-Najjar syndrome	BEFREE	15304120, 17098698, 18004206, 19953640, 21319362, 23992562, 24065680, 24401909, 25319636, 25966095, 26250421, 29137095, 30544479, 9630669		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crigler Najjar syndrome, type 2	Crigler-Najjar syndrome	ORPHANET_DG	16456422, 17098698		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crigler Najjar syndrome, type 2	Crigler-Najjar syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crigler Najjar syndrome, type 2	Crigler-Najjar syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crigler-Najjar syndrome type 1	Crigler-Najjar Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Crigler-Najjar syndrome type 2	Crigler-Najjar Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	BEFREE	22398043, 24407487		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	35872023	Stimulate	★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic Neutropenia	BEFREE	15712364, 15953334, 22710376		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	16557566		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	LHGDN	16557566		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	9639672	Associate	★☆☆☆☆ Found in Text Mining only
Deficiency of glucose-6-phosphate dehydrogenase	Deficiency Of Glucose-6-Phosphate Dehydrogenase	BEFREE	10541948, 12105841, 12439228, 16237771, 17426648, 19397531, 20376058, 21592495, 26727668, 27557546		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	39978853	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23642732, 26628212, 37445792	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23642732, 26628212		★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	15280927, 16456808, 16951398, 18300238, 19125128, 20628391, 23236239, 23892411, 24815493, 24958824, 25880011, 28397089, 28637434, 29131533, 29504153, 30447099, 30645764, 31558477, 32264830, 32357899, 33728696, 34860573, 35340156, 35822291, 36527823	Associate	★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	21317830, 24910925		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	29220881	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	14871858, 18349273, 19352303		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	18349273		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	22633539	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	29540112		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	20064729		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	37858371	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	26091520, 28540621		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	22367021, 23783485		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	22367021, 23783485		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	22367021	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	22367021	Stimulate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	17593033, 28951772	Associate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	28951772		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	20056642		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	22367021		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	25246029	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	30599907		★☆☆☆☆ Found in Text Mining only
Galactosemias	Galactosemia	Pubtator	21319362	Associate	★☆☆☆☆ Found in Text Mining only
Gallstones	Gallstones	Pubtator	10498597, 11843828, 15388579, 17593033, 23207817, 24060717, 24167350, 26146896, 31619193	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	33728696	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	27525948	Associate	★☆☆☆☆ Found in Text Mining only
Gastroschisis	Gastroschisis	Pubtator	31075877	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	30822514		★☆☆☆☆ Found in Text Mining only
Generalized glycogen storage disease of infants	Glycogen Storage Disease	BEFREE	28363873		★☆☆☆☆ Found in Text Mining only
Gilbert Disease	Gilbert syndrome	Pubtator	10498597, 10583252, 11843828, 15388579, 15858133, 16269258, 16610035, 18832463, 19572200, 20177420, 20389299, 20529348, 20924216, 21319362, 22135857, 22169899, 22299209, 22325916, 22450351, 23388413, 23575236, 24587300, 24615032, 24620945, 25086287, 25262077, 25319636, 26781906, 27444220, 28296739, 28321066, 28389660, 29137095, 29386646, 30285761, 30544479, 31017737, 31467903, 31602632, 32049823, 32571672, 33631237, 35426266, 35436954, 36274106, 36293566, 36639636, 37738404, 37759499, 39881831, 9375768, 9375769, 9402181, 9653159	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gilbert Disease	Gilbert syndrome	Pubtator	23388413, 28338110	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gilbert Disease (disorder)	Gilbert Disease	BEFREE	10091406, 10190918, 10359058, 10390262, 10412811, 10427468, 10498597, 10541948, 10546817, 10583252, 10720749, 10836148, 10968441, 11003624, 11013440, 11061796, 11097345, 11106326, 11230743, 11316168, 11422622, 11568299, 11783956, 11843828, 11878580, 11915038, 12012638, 12068798, 12480553, 12732365, 12800608, 14647407, 14663278, 14744740, 15205079, 15297419, 15304120, 15378351, 15858133, 16257926, 16402080, 16557566, 16610035, 16792515, 16798708, 17058217, 17196409, 17426648, 17496722, 17850628, 18004206, 18343383, 18349289, 18491077, 18832463, 19021734, 19303655, 19309288, 19672597, 19845429, 19932091, 20177420, 20194756, 20207827, 20529348, 20837016, 21309756, 21319362, 21412181, 21771946, 22135857, 22160004, 22213127, 22325916, 22360405, 22398043, 22407023, 22448797, 23089802, 23241680, 23340007, 23403257, 23517300, 23981182, 23992562, 24217933, 24615032, 24620945, 24726540, 24785582, 25086287, 25611851, 25855413, 26250421, 26781906, 27057738, 27444220, 27866642, 28213806, 28296739, 28338110, 28389660, 28490767, 28494109, 28692147, 29085579, 29137095, 29386646, 30105552, 30285761, 30544479, 30717703, 31017737, 31087315, 31145902, 31602632, 8596320, 9252066, 9375768, 9375769, 9466980, 9580766, 9630669, 9929972		★☆☆☆☆ Found in Text Mining only
Gilbert Disease (disorder)	Gilbert Disease	CTD_human_DG	10421657, 15180166, 15297419, 22213127		★☆☆☆☆ Found in Text Mining only
Gilbert Disease (disorder)	Gilbert Disease	GENOMICS_ENGLAND_DG	11013440		★☆☆☆☆ Found in Text Mining only
Gilbert Disease (disorder)	Gilbert Disease	UNIPROT_DG	11013440, 12139570, 17496722, 7715297, 9627603		★☆☆☆☆ Found in Text Mining only
Gilbert Disease (disorder)	Gilbert Disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	24870236, 30763062		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	28422158		★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	28363873		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	31740989		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	21351260		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	39978853	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	36878495	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	17978490, 37260062	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	20643254		★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Congenital heart septal defect	Pubtator	36878495	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	15280927, 20628391, 21287524, 21892003, 23386248, 24033692, 24114122, 30246377	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	BEFREE	20709051, 24204915		★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	24060717, 32049823, 34074250	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	28296739	Associate	★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	34117631	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Type III	Hereditary angioedema	Pubtator	27525948	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	20371435		★☆☆☆☆ Found in Text Mining only
Hereditary spherocytosis	Hereditary Spherocytosis	BEFREE	10498597, 14663278, 21319362, 29115431		★☆☆☆☆ Found in Text Mining only
Hereditary spherocytosis	Hereditary Spherocytosis	LHGDN	16735790		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	18768784, 22475179, 25276769		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hodgkin Disease	Hodgkin Disease	CTD_human_DG	18768784		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hodgkin Disease	Hodgkin disease	Pubtator	18768784, 33671849	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hodgkin lymphoma, lymphocyte depletion	Hodgkin Lymphoma, Lymphocyte Depletion	CTD_human_DG	18768784		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	25276769		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	BEFREE	10353933, 10359058, 10390262, 10427468, 10541948, 10720749, 10753261, 10968441, 11003624, 11013440, 11196269, 11422622, 11568299, 11803413, 11906189, 12105841, 12439228, 12480553, 12800608, 14647407, 15209398, 15319464, 15684703, 15712364, 15864125, 15965581, 16076256, 16170755, 16386929, 16609363, 16623861, 16792515, 16798708, 17058217, 17060921, 17148966, 17531109, 17611564, 17888052, 18043502, 18392554, 18518849, 18756540, 19303655, 19672597, 19683255, 19744523, 19858149, 20022574, 20061399, 20194756, 20376058, 20389299, 20504240, 20528217, 20546738, 20647221, 20709051, 20890421, 20975617, 21255081, 21309756, 21592495, 21983082, 21993917, 22050734, 22307138, 22398043, 22407023, 22448797, 22546842, 22661571, 22759796, 23099197, 23130636, 23147267, 23148286, 23264445, 23548653, 23609856, 23857295, 23947957, 23981182, 23992562, 24204915, 24232666, 24516079, 24642571, 24726540, 24785582, 24898899, 25092941, 25102181, 25200497, 25204339, 25391605, 26039129, 26146841, 26191226, 26480925, 26727668, 26781906, 26859599, 26960716, 27057738, 27060662, 27533851, 27557546, 27654129, 27704169, 27842454, 28065859, 28167773, 28213806, 28283555, 28338110, 28389660, 28399191, 28567595, 28603997, 28790862, 28888563, 29085579, 29115431, 29386646, 30105461, 30105552, 30589990, 30717703, 30962262, 31069991, 31087315, 31092094, 31145902, 9156798, 9748558, 9929972		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperbilirubinemia	Hyperbilirubinemia	LHGDN	11906189, 14647407, 15319464, 15684703, 15864125, 16609363, 17060921, 17229650, 17611564, 18756540, 18781851		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperbilirubinemia	Hyperbilirubinemia	Pubtator	12502904, 15388579, 16170755, 17506482, 18756540, 19572200, 20389299, 20647221, 20890421, 22169899, 22299209, 22307138, 23148286, 23207817, 24167350, 24204915, 24390949, 24557078, 24642571, 24898899, 25102181, 25319636, 26146841, 26375741, 26727668, 26781906, 27323053, 27557546, 28296739, 28399191, 29386646, 29534743, 31142299, 31467903, 32049823, 32571672, 32899072, 34074250, 34672909, 34895177, 35436954, 35501760, 35973199, 36293671, 36520959, 36580335, 36639636, 38279097, 39978853, 9639672	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperbilirubinemia	Hyperbilirubinemia	CTD_human_DG	20194756, 21983082, 23950218, 25370011, 27060662		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperbilirubinemia Neonatal	Hyperbilirubinemia	Pubtator	12502904, 22299209, 23388413, 25102181, 26146841, 27557546, 27980881, 28399191, 29534743, 29607327, 30298137, 32571672, 34074250, 34895177, 35501760, 36293671, 36520959, 38279097, 39978853	Associate	★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia, Neonatal	Hyperbilirubinemia	BEFREE	10190918, 10541948, 11061796, 12105841, 12357057, 17888052, 19397531, 20528217, 20975617, 21272068, 21983082, 23014115, 23782005, 23877636, 24104695, 24232666, 24726540, 25092941, 25102181, 25391605, 26200705, 26342858, 26467199, 27318112, 27557546, 28025333, 28340583, 28399191, 29179591, 31253110, 31818155		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperbilirubinemia, Neonatal	Hyperbilirubinemia	LHGDN	12105841, 17888052, 17990575, 18043502, 18558634		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperbilirubinemia, Neonatal	Hyperbilirubinemia	CTD_human_DG	28167773		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperbilirubinemia, Neonatal	Hyperbilirubinemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia	Hypercholesterolemia	BEFREE	22749334		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	30950200		★☆☆☆☆ Found in Text Mining only
Hyperprolactinemia	Hyperprolactinemia	BEFREE	29955115		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	26676689	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29133521, 31254178		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	39978853	Associate	★☆☆☆☆ Found in Text Mining only
Indirect Hyperbilirubinemia, Neonatal	Hyperbilirubinemia	CTD_human_DG	28167773		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	22398043		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	33114263	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	20371435		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	20948202		★☆☆☆☆ Found in Text Mining only
Kernicterus	Kernicterus	BEFREE	11803431, 28167773, 31495946		★☆☆☆☆ Found in Text Mining only
Kernicterus	Kernicterus	LHGDN	17990575		★☆☆☆☆ Found in Text Mining only
Kernicterus	Kernicterus	CTD_human_DG	20194756, 28167773		★☆☆☆☆ Found in Text Mining only
Kernicterus	Kernicterus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	25151207		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	21617725		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	3864191		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	BEFREE	21617725		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	27491898	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	26751466	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	26751466		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	27057738, 30763062		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30016963, 36951168	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30016963		★☆☆☆☆ Found in Text Mining only
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS	LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS	BEFREE	27301951		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	11156391, 15007088, 16636344, 17090741, 17192505, 17409981, 17549067, 17558305, 17577039, 17627617, 18467239, 18720361, 19125128, 19125129, 19349540, 19349543, 19390945, 19414151, 19450125, 19608554, 19771428, 20177420, 20377135, 20530282, 20562211, 20628391, 20653675, 20860988, 21150467, 21303789, 21486535, 21740478, 22077505, 22508373, 22516947, 22535333, 22555197, 22676194, 22934695, 23236239, 23386248, 23529007, 23605141, 23686699, 23783485, 23840132, 24033692, 24308720, 24448639, 24519753, 24815493, 24958824, 25055799, 25778466, 25880011, 26229432, 26352872, 26710796, 26773202, 26830078, 26872008, 27503581, 27845419, 28502040, 28526907, 28558150, 28585035, 28637434, 28790841, 29052349, 29080971, 29504153, 29530335, 29909091, 29932297, 30246377, 30328531, 30447099, 30628534, 31092094		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10706110, 15057901, 27236156, 27301951, 28294511		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	23408116	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	23408116, 27531059	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	23408116, 27531059		★☆☆☆☆ Found in Text Mining only
Lucey-Driscoll syndrome (disorder)	Lucey-Driscoll syndrome	UNIPROT_DG	11061796		★☆☆☆☆ Found in Text Mining only
Lucey-Driscoll syndrome (disorder)	Lucey-Driscoll syndrome	ORPHANET_DG	23014115		★☆☆☆☆ Found in Text Mining only
Lucey-Driscoll syndrome (disorder)	Lucey-Driscoll syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Lucey-Driscoll syndrome (disorder)	Lucey-Driscoll syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Lucey-Driscoll syndrome (disorder)	Lucey-Driscoll syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	25086287	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	27883280, 29052349, 31685767, 33090402, 35328047	Associate	★☆☆☆☆ Found in Text Mining only
Lymphocyte Rich Classical Hodgkin Lymphoma	Classical Hodgkin lymphoma	CTD_human_DG	18768784		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	25055799		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	21351260		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10706110, 11170257, 11401924, 15111762, 16280036, 16399374, 17909964, 17949292, 18798070, 20087647, 20799965, 22199302, 22418777, 23935996, 25648141, 27496708, 27525948, 28178648		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	14871858, 18349273, 19352303		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	22367021, 23783485		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	22934695, 27525948, 31558477		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	27491898		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	21351260, 26751466		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	23382909		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16399374, 20377135, 27832386, 28502040, 29052349, 31685767		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	15254716, 16399374, 26125934, 28540621		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	17072959, 23053265		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20308029, 21771722, 22307138, 22559977, 25452636, 27074016, 9564848		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23303296, 23783485, 25712374, 26872008, 28056823		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	31107374		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19880377, 20972438, 22228101, 23632476, 23752272, 26374428, 26645279, 28696839		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11156391, 11170257, 12185559, 12800608, 14744740, 15007088, 15179405, 15280927, 16509759, 16550166, 16651374, 16682733, 16815558, 16965601, 16982469, 17058217, 17406868, 17627617, 18068529, 20038727, 20308029, 22448797, 23880823, 24822274, 24958824, 25712374, 26313268, 26828111, 27832386, 28049773, 28280378, 28585035, 29113203, 30307765, 30527657, 30645764, 30724669, 30763062, 31132973, 31730632		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	31107374		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17016579, 18675828, 19997083, 22559738, 24677636, 26098842, 28049773, 29519853, 31621310		★☆☆☆☆ Found in Text Mining only
Malignant tumor of small intestine	Small intestine cancer	BEFREE	24114122		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15111762, 17949292		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	16280036		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30972276		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	18180294, 24785582		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASCAT_DG	30621171		★☆☆☆☆ Found in Text Mining only
Mixed Cellularity Hodgkin Lymphoma	Classical Hodgkin lymphoma	CTD_human_DG	18768784		★☆☆☆☆ Found in Text Mining only
Mucositis	Mucositis	Pubtator	33728696, 35340156	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	30298137	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	23609856, 24898899		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	20562445, 22805420		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	22805420		★☆☆☆☆ Found in Text Mining only
Nausea	Nausea	Pubtator	31558477	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal unconjugated hyperbilirubinemia	Hyperbilirubinemia	BEFREE	17229650, 23099197		★☆☆☆☆ Found in Text Mining only
Neonatal unconjugated hyperbilirubinemia	Hyperbilirubinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15254716, 15318931, 16280036, 16636344, 16682733, 19125129, 20628391, 21692598, 24018773, 25210794, 26010150, 26027741, 26645279, 28493308, 28502040, 28558150, 31535408		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	25151207		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	27413119		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	15007088, 16636344, 17090741, 17192505, 17409981, 17549067, 17558305, 17577039, 17627617, 18467239, 18720361, 19125128, 19125129, 19349540, 19349543, 19390945, 19414151, 19450125, 19608554, 19771428, 20177420, 20377135, 20530282, 20562211, 20628391, 20653675, 20860988, 21150467, 21303789, 21486535, 21740478, 22077505, 22508373, 22516947, 22535333, 22555197, 22676194, 22934695, 23236239, 23386248, 23529007, 23605141, 23686699, 23783485, 23840132, 24033692, 24308720, 24448639, 24519753, 24815493, 24958824, 25055799, 25778466, 25880011, 26229432, 26352872, 26710796, 26773202, 26830078, 26872008, 27503581, 27845419, 28502040, 28558150, 28585035, 28637434, 28790841, 29080971, 29504153, 29530335, 29909091, 29932297, 30246377, 30328531, 30628534, 31092094		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia	Neutropenia	Pubtator	17409981, 17627617, 18300238, 19349540, 19349543, 20177420, 20530282, 20628391, 20653675, 20860988, 21150467, 21486535, 21740478, 22516947, 23236239, 23386248, 24033692, 24958824, 25778466, 25869015, 25880011, 26229432, 26710796, 27845419, 28637434, 29504153, 29530335, 30246377, 32778670, 34860573, 35340156, 35637361, 35822291, 36114233	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia	Neutropenia	CTD_human_DG	17549067		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Classical Hodgkin lymphoma	CTD_human_DG	18768784		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Gilbert syndrome	Gilbert Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	19948621, 27301979, 28098838		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	14586211, 16636344, 18685565, 21150467		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24901842, 25246029	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	GWASCAT_DG	25246029		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	26334566		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	27980881	Inhibit	★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	25246029		★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	24401909	Associate	★☆☆☆☆ Found in Text Mining only
Oculomotor Nerve Paralysis	Oculomotor nerve palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	34462452	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	28173214		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	15254716, 16399374, 26125934, 28540621		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	15254716		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32894980	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	17072959, 23053265		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	17072959, 25076337, 25996841, 33386925, 34595239, 35637361	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	15247627		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	18375480		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	18375480		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	29955115		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	15857854		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	25105254, 25855413		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20308029, 21771722, 22307138, 25452636, 27074016, 9564848		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21771722, 36347965	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	28296739, 30820183		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	35197553	Associate	★☆☆☆☆ Found in Text Mining only
Pyloric Stenosis, Hypertrophic	Congenital hypertrophic pyloric stenosis	BEFREE	16257926		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	16651374, 29273261, 30246377, 31217818		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	27491898		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27491898, 29524031		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	26666247		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	19482841		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	26666247		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	26666247	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	31207142	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	21993917		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	29791011		★☆☆☆☆ Found in Text Mining only
Scleroderma Limited	Scleroderma	Pubtator	24114122	Associate	★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	15280927, 16003560, 16809730, 18594531, 18797458, 19125128, 19125129, 19517472, 19770637, 19859999, 20028383, 20038727, 20096102, 21273624, 21303789, 21486535, 21617725, 21654688, 22555197, 23236239, 23595344, 23840132, 24033692, 24462762, 24642571, 25175642, 25427841, 25778466, 25834402, 26098842, 26494856, 26811156, 26830078, 27122675, 27160286, 27938508, 28278081, 28474802, 28637434, 29728798, 30377777, 30585257, 30594039, 31347092		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	22610353		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	25450281, 30328531		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	25450281, 30527181, 33728696	Associate	★☆☆☆☆ Found in Text Mining only
Small intestine carcinoma	Small Intestinal Carcinoma	BEFREE	24114122		★☆☆☆☆ Found in Text Mining only
Spherocytosis Hereditary	Spherocytosis	Pubtator	10498597, 20924216, 21319362, 31122244, 34672909, 35650129, 37385619	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 11	Spinocerebellar ataxia	Pubtator	32881938	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	27832386		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	22367021		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26751466	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	29131354		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23303296, 23783485, 25712374, 26872008, 28056823		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25712374, 28056823, 32666389	Associate	★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	BEFREE	29487697		★☆☆☆☆ Found in Text Mining only
Thalassemia	Thalassemia	Pubtator	24060717	Associate	★☆☆☆☆ Found in Text Mining only
Thalassemia Intermedia	Thalassemia	BEFREE	12850481		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	26313268	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	24910925	Associate	★☆☆☆☆ Found in Text Mining only
Transient familial neonatal hyperbilirubinemia	Transient Hyperbilirubinemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	16792515		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	22398043		★☆☆☆☆ Found in Text Mining only
Unconjugated hyperbilirubinemia	Hyperbilirubinemia	BEFREE	10836148, 11061796, 11106326, 11196269, 11855932, 11878580, 12439228, 15864125, 15965581, 16135700, 17229650, 18180294, 18781851, 19430380, 19683255, 19830808, 19841506, 21412181, 21771946, 22094718, 22118420, 22325916, 22765254, 23089802, 23099197, 23290513, 23548653, 24650397, 24785582, 24865931, 25086287, 25315738, 25319636, 25729974, 25966095, 26716871, 26781906, 27057738, 27323053, 27830550, 28296739, 28888563, 29176474, 29386646, 30285761, 30544479, 31142299, 31495946, 31737051, 8027054, 9252066, 9435989		★☆☆☆☆ Found in Text Mining only
Unconjugated hyperbilirubinemia	Hyperbilirubinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	20972438, 22228101, 23632476, 26374428	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	32758288	Associate	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	34327766	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum	BEFREE	17549067		★☆☆☆☆ Found in Text Mining only