HFE (homeostatic iron regulator)

Gene

• Entrez ID: 3077
• Gene name: Homeostatic iron regulator
• Gene symbol: HFE
• Synonyms (NCBI Gene): HFE1, HH, HLA-H, MVCD7, TFQTL2
• Chromosome: 6
• Chromosome location: 6p22.2
• Summary: The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of th

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs111033558	G>C,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT054541	hsa-miR-200b-3p	Western blot, qRT-PCR	23708087
MIRT054542	hsa-miR-200a-3p	Western blot, qRT-PCR	23708087
MIRT054543	hsa-miR-200c-3p	Western blot, qRT-PCR	23708087
MIRT693483	hsa-miR-4511	HITS-CLIP	23313552
MIRT693482	hsa-miR-4731-3p	HITS-CLIP	23313552
MIRT693481	hsa-miR-4801	HITS-CLIP	23313552
MIRT693480	hsa-miR-95-5p	HITS-CLIP	23313552
MIRT693479	hsa-miR-4789-5p	HITS-CLIP	23313552
MIRT676964	hsa-miR-2392	HITS-CLIP	23824327
MIRT676962	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676963	hsa-miR-1976	HITS-CLIP	23824327
MIRT676961	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676959	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676960	hsa-miR-1193	HITS-CLIP	23824327
MIRT676958	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676957	hsa-miR-640	HITS-CLIP	23824327
MIRT676956	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT676955	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT676954	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT693483	hsa-miR-4511	HITS-CLIP	23313552
MIRT693482	hsa-miR-4731-3p	HITS-CLIP	23313552
MIRT693481	hsa-miR-4801	HITS-CLIP	23313552
MIRT693480	hsa-miR-95-5p	HITS-CLIP	23313552
MIRT693479	hsa-miR-4789-5p	HITS-CLIP	23313552
MIRT676964	hsa-miR-2392	HITS-CLIP	23824327
MIRT676962	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676963	hsa-miR-1976	HITS-CLIP	23824327
MIRT676961	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676959	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676960	hsa-miR-1193	HITS-CLIP	23824327
MIRT676958	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676957	hsa-miR-640	HITS-CLIP	23824327
MIRT676956	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT676955	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT676954	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT1044890	hsa-miR-1245b-3p	CLIP-seq
MIRT1044891	hsa-miR-499-3p	CLIP-seq
MIRT1044892	hsa-miR-499a-3p	CLIP-seq
MIRT1044893	hsa-miR-7	CLIP-seq
MIRT2242173	hsa-miR-3646	CLIP-seq
MIRT2242174	hsa-miR-3919	CLIP-seq
MIRT2242175	hsa-miR-4668-3p	CLIP-seq
MIRT2242173	hsa-miR-3646	CLIP-seq
MIRT2242174	hsa-miR-3919	CLIP-seq
MIRT2242175	hsa-miR-4668-3p	CLIP-seq
MIRT2451134	hsa-miR-185	CLIP-seq
MIRT2451135	hsa-miR-361-5p	CLIP-seq
MIRT2451136	hsa-miR-4306	CLIP-seq
MIRT2451137	hsa-miR-4428	CLIP-seq
MIRT2451138	hsa-miR-4644	CLIP-seq
MIRT2451139	hsa-miR-4786-5p	CLIP-seq
MIRT2545766	hsa-miR-1299	CLIP-seq
MIRT2451134	hsa-miR-185	CLIP-seq
MIRT2545767	hsa-miR-205	CLIP-seq
MIRT2545768	hsa-miR-28-3p	CLIP-seq
MIRT2545769	hsa-miR-302a	CLIP-seq
MIRT2545770	hsa-miR-302b	CLIP-seq
MIRT2545771	hsa-miR-302c	CLIP-seq
MIRT2545772	hsa-miR-302d	CLIP-seq
MIRT2545773	hsa-miR-302e	CLIP-seq
MIRT2545774	hsa-miR-3140-3p	CLIP-seq
MIRT2545775	hsa-miR-324-5p	CLIP-seq
MIRT2451135	hsa-miR-361-5p	CLIP-seq
MIRT2545776	hsa-miR-3647-3p	CLIP-seq
MIRT2545777	hsa-miR-372	CLIP-seq
MIRT2545778	hsa-miR-373	CLIP-seq
MIRT2545779	hsa-miR-3927	CLIP-seq
MIRT2451136	hsa-miR-4306	CLIP-seq
MIRT2451137	hsa-miR-4428	CLIP-seq
MIRT2545780	hsa-miR-4528	CLIP-seq
MIRT2451138	hsa-miR-4644	CLIP-seq
MIRT2545781	hsa-miR-4650-3p	CLIP-seq
MIRT2545782	hsa-miR-4775	CLIP-seq
MIRT2451139	hsa-miR-4786-5p	CLIP-seq
MIRT2545783	hsa-miR-4793-5p	CLIP-seq
MIRT2545784	hsa-miR-487a	CLIP-seq
MIRT2545785	hsa-miR-519a	CLIP-seq
MIRT2545786	hsa-miR-519b-3p	CLIP-seq
MIRT2545787	hsa-miR-519c-3p	CLIP-seq
MIRT2545788	hsa-miR-520a-3p	CLIP-seq
MIRT2545789	hsa-miR-520b	CLIP-seq
MIRT2545790	hsa-miR-520c-3p	CLIP-seq
MIRT2545791	hsa-miR-520d-3p	CLIP-seq
MIRT2545792	hsa-miR-520e	CLIP-seq
MIRT2545793	hsa-miR-520f	CLIP-seq
MIRT2545794	hsa-miR-590-3p	CLIP-seq
MIRT2545795	hsa-miR-875-3p	CLIP-seq
MIRT2545796	hsa-miR-944	CLIP-seq
MIRT2451134	hsa-miR-185	CLIP-seq
MIRT2545767	hsa-miR-205	CLIP-seq
MIRT2545769	hsa-miR-302a	CLIP-seq
MIRT2545770	hsa-miR-302b	CLIP-seq
MIRT2545771	hsa-miR-302c	CLIP-seq
MIRT2545772	hsa-miR-302d	CLIP-seq
MIRT2545773	hsa-miR-302e	CLIP-seq
MIRT2545774	hsa-miR-3140-3p	CLIP-seq
MIRT2682276	hsa-miR-3145-3p	CLIP-seq
MIRT2682277	hsa-miR-3152-5p	CLIP-seq
MIRT2451135	hsa-miR-361-5p	CLIP-seq
MIRT2545776	hsa-miR-3647-3p	CLIP-seq
MIRT2545777	hsa-miR-372	CLIP-seq
MIRT2545778	hsa-miR-373	CLIP-seq
MIRT2545779	hsa-miR-3927	CLIP-seq
MIRT2682278	hsa-miR-412	CLIP-seq
MIRT2451136	hsa-miR-4306	CLIP-seq
MIRT2451137	hsa-miR-4428	CLIP-seq
MIRT2545780	hsa-miR-4528	CLIP-seq
MIRT2451138	hsa-miR-4644	CLIP-seq
MIRT2545781	hsa-miR-4650-3p	CLIP-seq
MIRT2682279	hsa-miR-4774-3p	CLIP-seq
MIRT2545782	hsa-miR-4775	CLIP-seq
MIRT2451139	hsa-miR-4786-5p	CLIP-seq
MIRT2545783	hsa-miR-4793-5p	CLIP-seq
MIRT2545784	hsa-miR-487a	CLIP-seq
MIRT2682280	hsa-miR-498	CLIP-seq
MIRT2682281	hsa-miR-513b	CLIP-seq
MIRT2545785	hsa-miR-519a	CLIP-seq
MIRT2545786	hsa-miR-519b-3p	CLIP-seq
MIRT2545787	hsa-miR-519c-3p	CLIP-seq
MIRT2545788	hsa-miR-520a-3p	CLIP-seq
MIRT2545789	hsa-miR-520b	CLIP-seq
MIRT2545790	hsa-miR-520c-3p	CLIP-seq
MIRT2545791	hsa-miR-520d-3p	CLIP-seq
MIRT2545792	hsa-miR-520e	CLIP-seq
MIRT2545793	hsa-miR-520f	CLIP-seq
MIRT2682282	hsa-miR-548ac	CLIP-seq
MIRT2682283	hsa-miR-548ae	CLIP-seq
MIRT2682284	hsa-miR-548aj	CLIP-seq
MIRT2682285	hsa-miR-548am	CLIP-seq
MIRT2682286	hsa-miR-548d-3p	CLIP-seq
MIRT2682287	hsa-miR-548x	CLIP-seq
MIRT2682288	hsa-miR-548z	CLIP-seq
MIRT2545794	hsa-miR-590-3p	CLIP-seq
MIRT2545796	hsa-miR-944	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PARP1	Unknown	24184271

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002474	Process	Antigen processing and presentation of peptide antigen via MHC class I	IKR	8696333
GO:0002709	Process	Regulation of T cell mediated immunity	IEA
GO:0002725	Process	Negative regulation of T cell cytokine production	IGI	24643698
GO:0005102	Function	Signaling receptor binding	IPI	10638746, 24904118
GO:0005515	Function	Protein binding	IPI	14691533, 15880641, 15965644, 20133674, 20618438, 33961781
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	21173098
GO:0005654	Component	Nucleoplasm	IDA
GO:0005769	Component	Early endosome	IDA	15880641
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10638746
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006826	Process	Iron ion transport	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IDA	10085150, 18353247
GO:0006898	Process	Receptor-mediated endocytosis	IDA	9465039
GO:0007166	Process	Cell surface receptor signaling pathway	IDA	9465039
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009897	Component	External side of plasma membrane	IDA	24904118
GO:0010039	Process	Response to iron ion	IMP	21173098
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0016020	Component	Membrane	IEA
GO:0019882	Process	Antigen processing and presentation	IC	9546397
GO:0030509	Process	BMP signaling pathway	IDA	24904118
GO:0030881	Function	Beta-2-microglobulin binding	IEA
GO:0030881	Function	Beta-2-microglobulin binding	IPI	9465039, 9546397, 9990067
GO:0031410	Component	Cytoplasmic vesicle	IDA	12704209, 15880641
GO:0032435	Process	Negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA	24904118
GO:0032435	Process	Negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA
GO:0033572	Process	Transferrin transport	IDA	9465039, 18353247
GO:0034756	Process	Regulation of iron ion transport	IBA
GO:0034756	Process	Regulation of iron ion transport	IGI	18353247
GO:0039706	Function	Co-receptor binding	IPI	22728873
GO:0042446	Process	Hormone biosynthetic process	IEA
GO:0042605	Function	Peptide antigen binding	IDA	9546397
GO:0042605	Function	Peptide antigen binding	IKR	8696333
GO:0042612	Component	MHC class I protein complex	IDA	9546397
GO:0042612	Component	MHC class I protein complex	IKR	8696333
GO:0045177	Component	Apical part of cell	IDA	15880641
GO:0045178	Component	Basal part of cell	IDA	15880641
GO:0048260	Process	Positive regulation of receptor-mediated endocytosis	IGI	18353247
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	9990067, 15880641
GO:0055037	Component	Recycling endosome	IDA	15880641
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	24904118
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IMP	21173098
GO:0065003	Process	Protein-containing complex assembly	TAS	10638746
GO:0071281	Process	Cellular response to iron ion	IGI	18353247
GO:0090277	Process	Positive regulation of peptide hormone secretion	IMP	21173098
GO:0141109	Function	Transporter activator activity	IGI	18353247
GO:1904283	Process	Negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I	IGI	24643698
GO:1990459	Function	Transferrin receptor binding	IBA
GO:1990459	Function	Transferrin receptor binding	IEA
GO:1990459	Function	Transferrin receptor binding	IPI	9465039, 9546397, 9990067, 18353247, 22728873
GO:1990641	Process	Response to iron ion starvation	IBA
GO:1990712	Component	HFE-transferrin receptor complex	IDA	9465039, 9546397, 9990067, 12704209, 22728873
GO:1990712	Component	HFE-transferrin receptor complex	IEA
GO:2000008	Process	Regulation of protein localization to cell surface	IMP	12704209
GO:2000059	Process	Negative regulation of ubiquitin-dependent protein catabolic process	IDA	24904118
GO:2001186	Process	Negative regulation of CD8-positive, alpha-beta T cell activation	IGI	24643698

Other IDs

• MIM: 613609
• HGNC: 4886
• e!Ensembl: ENSG00000010704

Protein

• UniProt ID: Q30201
• Protein name: Hereditary hemochromatosis protein (HLA-H)
• Protein function: Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.
• PDB: 1A6Z, 1DE4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00129	MHC_I	26 → 202	Class I Histocompatibility antigen, domains alpha 1 and 2	Domain
  PF07654	C1-set	206 → 289	Immunoglobulin C1-set domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in all tissues tested except brain.
• Sequence:

  MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVF
  YDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQV
  ILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNR
  AYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWL
  KDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPS
  PSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAERE

• Sequence length: 348

Pathways

KEGG:

TGF-beta signaling pathway

Reactome:

Transferrin endocytosis and recycling

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
Alzheimer disease type 1	Likely pathogenic	rs776994377	RCV002249071	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Likely pathogenic; Pathogenic	rs573745685	RCV005912576	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemochromatosis type 1	Likely pathogenic; Pathogenic	rs573745685, rs759524388, rs1199530060, rs766992720, rs111033558, rs111033563, rs199916850, rs1192141992, rs773443949, rs749553271, rs765804978, rs1561939338, rs146519482	RCV001376186 RCV003127860 RCV003485713 RCV001582388 RCV000000035 RCV000000036 RCV005045240 RCV003319951 RCV005632652 RCV003230498 RCV003126743 RCV000781466 RCV000190906	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatocellular carcinoma	Likely pathogenic; Pathogenic	rs573745685	RCV005912575	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary hemochromatosis	Likely pathogenic; Pathogenic	rs573745685, rs759524388, rs777018511, rs1199530060, rs1762806344, rs773296212, rs780563614, rs111033563, rs776994377, rs199916850, rs2481621832, rs2481606711, rs773443949, rs1256311452, rs2481619371, rs1190990892, rs2481620137, rs984544092, rs1383450519, rs771784900, rs1224306184, rs1330944743, rs749553271, rs765804978, rs1554154042, rs1762684254, rs1762833218, rs146519482	RCV002550228 RCV001387126 RCV001385485 RCV001383379 RCV001950938 RCV001942148 RCV001958725 RCV001050090 RCV003588782 RCV003079167 RCV002640614 RCV002851723 RCV002932944 RCV003051883 RCV003590486 RCV003589475 RCV003591047 RCV003751649 RCV003752099 RCV003824890 RCV003864217 RCV003874112 RCV002230773 RCV002230337 RCV000636244 RCV001048895 RCV001222163 RCV001058987	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Incidental Discovery	Likely pathogenic; Pathogenic	rs111033563	RCV005229758	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile hemochromatosis	Likely pathogenic	rs773443949	RCV004018185	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic; Pathogenic	rs749553271	RCV005899458	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic	rs1192141992	RCV005931076	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE, FAMILIAL, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APHTHOUS STOMATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA THALASSEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronze diabetes	Conflicting classifications of pathogenicity; other; risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Conflicting classifications of pathogenicity; other; risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHNS DISEASE OF LARGE BOWEL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous photosensitivity	Conflicting classifications of pathogenicity; other; risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic fibrosis	Conflicting classifications of pathogenicity; other	ClinVar Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DIABETES MELLITUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGENIC HEMOCHROMATOSIS	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMATOLOGIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 1	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATIC VENO-OCCLUSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS C	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Conflicting classifications of pathogenicity; other; risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HFE INTRONIC POLYMORPHISM	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HFE POLYMORPHISM	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HFE-related disorder	Conflicting classifications of pathogenicity; other; risk factor; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTESTINAL OBSTRUCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRON METABOLISM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROMES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroendocrine neoplasm	Conflicting classifications of pathogenicity; other; risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS OF HIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTHER SPECIFIED IRON DEFICIENCY ANEMIAS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYTHEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMYALGIA RHEUMATICA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORPHYRIA CUTANEA TARDA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORPHYRIA CUTANEA TARDA, TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porphyrinuria	Conflicting classifications of pathogenicity; other; risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORPHYRURIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Variegate porphyria	Conflicting classifications of pathogenicity; other	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Hypogammaglobulinemia	Common Variable Immunodeficiency	BEFREE	12850493		★☆☆☆☆ Found in Text Mining only
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	15060098, 17047092		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	15863206, 17107905		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	15863206, 17107905, 23861158		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	17107905		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	17666895		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	15956653		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	15956653		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	10235273, 16454835, 20424537		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	15863206, 17107905		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	29683071		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	15668502, 20208481, 28617828		★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	17160266		★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	17160266		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	11445256, 15060098, 17047092, 20029940, 20164577, 29518107	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	15060098, 17047092		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	15060098, 17047092		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	15060098, 17047092		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	15060098, 17047092		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	20734416		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	LHGDN	15546588		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	17210810, 18325820, 18987350, 20642794, 21346098, 21349849, 23063643, 23813494, 24604426, 25283820, 26174855, 26799243		★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	33070529	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	20642794, 22425014, 24604426		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	10090890, 30984307	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	BEFREE	10583252, 16138214, 16446107, 16838333, 19608676, 22426798, 26416321, 9727731		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia Dyserythropoietic Congenital	Congenital dyserythropoietic anemia	Pubtator	10583252, 11071669	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	10403746, 10691878, 14692443, 15865084, 19380292, 9753042	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Iron Deficiency	Iron deficiency anemia	Pubtator	24663082, 29194702, 30984307	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	14635204, 22183944, 27095682	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	15865084, 19380292, 29969830, 9753042		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	14635204		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	GWASCAT_DG	29942085		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	20563578		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	22196777	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	10719381, 11257277, 11380589, 12364722, 18593631		★☆☆☆☆ Found in Text Mining only
Arthralgia	Arthralgia	Pubtator	17284543	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	10471457, 18199861, 20583211, 29743178, 30657865	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	11886966, 14673391, 16468045, 16638105, 17904763		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	30651232, 38003490	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASDB_DG	20884846, 21768215, 23263486		★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	16583477, 19942354, 20560808, 23139229, 23990522, 29743178		★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	19386095, 19560233, 21190189		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	10719381, 11257277, 12364722, 18593631		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	18593631, 9753040	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy of testis	Testicular atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	26710823	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	26710823		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	20808228	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	19167444		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	20808228		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	22048270		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	18470614		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	28950260		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	28950260	Associate	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	10477452, 11869934, 14703689, 15182337, 15538648, 17160266		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
beta Thalassemia	Beta thalassemia	Pubtator	10895137, 11122155, 17160266, 20084012, 21491373, 21796974, 31522215, 31707418, 32588561	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
beta Thalassemia	beta Thalassemia	LHGDN	14703689		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
beta^+^ Thalassemia	beta Thalassemia	BEFREE	11869934, 14703689, 15182337, 15538648, 17160266		★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	26613252		★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	BEFREE	11380589		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	19386095	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	25491948		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15894659, 16503999, 16823846, 17919354, 20099304, 21243428, 23281741, 23681799, 24443403, 26535689		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15018631, 16216474, 16503999, 20099304, 24443403, 33450138	Associate	★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	BEFREE	15785438		★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	LHGDN	17284543		★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	10771090, 10986220, 12865278, 15929796, 16503999, 17461505, 17956864, 18061182, 31622736, 33231665, 33450138, 35567766	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29191591		★☆☆☆☆ Found in Text Mining only
Carcinoma of Male Breast	Breast Carcinoma, male	BEFREE	16003728		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	20669231	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	31856248	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20669231		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	10024915, 11545759, 28558946		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	23861158, 35659379	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	11040018, 15642540	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	16802538		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	15642540		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	11040018, 30571559	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	11380589, 12401309, 12427496, 18810584, 20031541		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	16102632		★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	11108765		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	14692443	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	12145797, 15531451, 15929194, 29194702, 31640999		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	15929194, 29194702	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	26613252		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	15990686		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	12364722, 17878720, 24081379		★☆☆☆☆ Found in Text Mining only
Ceruloplasmin deficiency	Ceruloplasmin deficiency	BEFREE	20533066		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	12002748, 15863206, 17107905, 19806355, 28211293		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	28617828	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chondrocalcinosis	Chondrocalcinosis	Pubtator	12117686, 17284543, 32228506	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	16102632, 16950433	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	24785111		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	16138214		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Insufficiency	Renal Insufficiency	BEFREE	16138214		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	19258483		★☆☆☆☆ Found in Text Mining only
Chronic Pain	Chronic pain	Pubtator	30657865	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	10604569, 10655270, 10673304, 11093725, 11473464, 11500061, 12003382, 12109859, 12557137, 12586300, 12591066, 12865278, 12957297, 12957298, 14557859, 15508107, 15928800, 16416733, 17101320, 18061182, 20583211, 20673159, 20814896, 22265917, 22297603, 22989571, 23990522, 24556216, 30145563, 31622736		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cirrhosis Cryptogenic	Cirrhosis	Pubtator	11079015, 17589946	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis, Cryptogenic	Cirrhosis	BEFREE	11079015		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	16824219, 17687449, 29518107	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	29518107	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	12529348		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12948285, 15941956, 19291797, 20099304, 22469802, 23281741, 23553028, 25854174, 26535689, 31422818		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20099304, 25854174, 31422818	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	12850493		★☆☆☆☆ Found in Text Mining only
Congenital atransferrinemia	Congenital atransferrinemia	Pubtator	25486930	Associate	★☆☆☆☆ Found in Text Mining only
Congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia	BEFREE	11071669		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	19384175, 23927520, 27789107		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21145803		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	11257277, 12427496, 12714262, 12850485, 16968463, 20031541, 20640879, 21696736, 23792061, 9520858		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	10719381, 27513231, 28684612	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	11257277, 12427496, 12714262, 12850485, 15222129, 16968463, 18810584, 20031541, 20640879, 21696736, 23792061, 9520858		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	12746412, 15352740		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	10719381, 20640879	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	11257277, 12427496, 12714262, 12850485, 16968463, 20031541, 20640879, 21696736, 23792061, 9520858, 9753040		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	27115882		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	10464603, 12885340, 15668502, 18078365, 20199637, 30291871, 9380706		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cystic Fibrosis	Cystic Fibrosis	LHGDN	12885340		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cystic Fibrosis	Cystic Fibrosis	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Degenerative polyarthritis	Arthritis	BEFREE	12508400, 16583477, 16755236, 20560808, 22209421, 24401005, 30427934		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	12508400, 17284543		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	24081379		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	33427739	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	29518107	Associate	★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	29518107		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10695662, 11423500, 12401309, 14752836, 16936157, 17904763, 17959863, 19072401, 22815867, 23801727, 23990522, 24574363, 26771691, 27894410, 28809726, 29445185, 29899542, 30145563, 30657865		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10695662, 11423500, 12401309, 14752836, 16936157, 17680648, 17904763, 17959863, 19072401, 20097100, 22815867, 23801727, 23990522, 24574363, 26771691, 27894410, 28809726, 29445185, 29899542, 30145563, 30657865		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	19018338, 19822954, 26365338, 26771691, 29899542, 30651232, 30657865, 33941944, 35567766, 35895739, 39653412	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	29899542	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	18566337, 19876870, 27317329, 27513231, 33450138, 35567766, 35659379	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	23801727		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10695662, 10705106, 11423500, 11763282, 12148086, 12601293, 12783844, 15222129, 15347835, 16306377, 18521456, 18566337, 19822954, 19876870, 20097100, 22908207, 23990522, 24433479, 27894410		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	12148086		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	33941944	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	11423500, 15347835		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	21067572, 29445185		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	21067572	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorders of Porphyrin Metabolism	Porphyria	BEFREE	10401000, 12508966, 30683557		★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	19876870		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	19018338, 35895739	Associate	★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	BEFREE	11495086, 12557137, 15910487, 20208481		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	25741405		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	25741405		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	25741405	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	20669231		★☆☆☆☆ Found in Text Mining only
Erectile Dysfunction	Erectile dysfunction	Pubtator	12077102	Associate	★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	25634189		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	25634189, 28151915	Associate	★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	10861683		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	15060098, 17047092		★☆☆☆☆ Found in Text Mining only
Familial porphyria cutanea tarda	Porphyria Cutanea Tarda	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial porphyria cutanea tarda	Porphyria Cutanea Tarda	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	12542563, 19018338, 30244162	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	10471457, 16586555, 17640859, 19359997, 22611049, 27317329, 30145563	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	LHGDN	12779071, 17585191, 17729389		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	15293136, 23924495		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	15047754, 15841433, 17589946	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	10488699, 10535879, 11338474, 12085358, 12792703, 15637751, 17680648, 17916170, 19267193, 22611049		★☆☆☆☆ Found in Text Mining only
Fatty Liver, Alcoholic	Alcoholic Fatty Liver	LHGDN	14742317		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	12377814, 12557137, 12586300, 12601343, 12957298, 14752836, 16584391, 17680648, 19602897, 20503453, 24556216, 24574363, 25495562, 27936457, 28231420		★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	24390816		★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	24390816		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	26613252		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	10464603		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	20575041		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	20575041	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease, Type 1	Gaucher Disease	BEFREE	20575041		★☆☆☆☆ Found in Text Mining only
Gilbert Disease	Gilbert syndrome	Pubtator	10583252, 39881831	Associate	★☆☆☆☆ Found in Text Mining only
Gilbert Disease (disorder)	Gilbert Disease	BEFREE	12064902, 12068798		★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	24603425	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28358914		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28358914	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28358914		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21190189, 25491948		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27898674	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASDB_DG	20884846, 21768215, 23263486		★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	29194702		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	29270100	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	25789325, 38098073	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	11001626, 18810584		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	19018338, 31226389, 39653412	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	19384175, 27789107		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	20208481, 23927520, 34051741	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	19380292	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	11399828, 11836162, 17107905, 20974500		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	11836162, 17729397, 28466891		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	10024915, 10094552, 10189391, 10194428, 10207799, 10216143, 10343890, 10349514, 10355506, 10369785, 10383365, 10401000, 10403350, 10423072, 10477452, 10491370, 10519366, 10520044, 10556042, 10575540, 10627947, 10638700, 10660483, 10660486, 10673304, 10681280, 10698721, 10756357, 10870847, 10878571, 10930379, 10942934, 10953948, 10953954, 10953960, 10986220, 11001625, 11005792, 11040194, 11042033, 11087882, 11199371, 11216661, 11313265, 11313310, 11313311, 11336458, 11358388, 11358905, 11386022, 11399207, 11423500, 11445256, 11456037, 11469076, 11478357, 11478530, 11495086, 11513196, 11551099, 11568090, 11676983, 11686223, 11722599, 11738096, 11778658, 11783942, 11812557, 11886966, 11887210, 11903354, 11939483, 11953685, 11960574, 11981749, 11984516, 12059121, 12064925, 12091366, 12091367, 12121511, 12190182, 12210292, 12377814, 12382199, 12382201, 12405528, 12416729, 12452931, 12457803, 12482411, 12508400, 12508966, 12512743, 12537660, 12547237, 12568299, 12606179, 12614226, 12638463, 12673276, 12678056, 12681966, 12707938, 12753664, 12846904, 12850493, 12865278, 12915468, 12949720, 12957297, 12972032, 14614395, 14633776, 14641999, 14642607, 14648375, 14668040, 14673391, 14675248, 14691533, 14703688, 15013567, 15014978, 15025725, 15042317, 15059075, 15061375, 15120171, 15147384, 15191520, 15290237, 15324319, 15345103, 15447900, 15466004, 15486069, 15528154, 15538648, 15546588, 15603661, 15607698, 15642666, 15654232, 15737885, 15737887, 15749661, 15785438, 15834437, 15863667, 15871018, 15910487, 15928800, 15965644, 15974953, 16043695, 16083706, 16103673, 16132052, 16186539, 16225403, 16240673, 16315132, 16315138, 16344062, 16388329, 16419611, 16451136, 16468045, 16476869, 16509978, 16533407, 16545687, 16550033, 16704763, 16762569, 16824219, 16936157, 16996754, 16998622, 17061732, 17064691, 17098454, 17108759, 17298224, 17394393, 17428702, 17470136, 17486050, 17492589, 17540589, 17543888, 17597476, 17635368, 17724144, 17726683, 17729390, 17729397, 17847004, 17852457, 17874981, 17886335, 17919354, 17943492, 17949288, 17951290, 18025154, 18045552, 18054440, 18061062, 18079564, 18157833, 18164223, 18304682, 18363869, 18430498, 18521456, 18557745, 18585964, 18624620, 18651828, 18657084, 18665827, 18713659, 18752323, 18820912, 18939938, 18945251, 19008010, 19072401, 19174578, 19195422, 19214108, 19214511, 19286879, 19291797, 19359997, 19380292, 19440063, 19477142, 19554541, 19759876, 19820015, 19860558, 19907150, 19907151, 20008199, 20031565, 20099304, 20117027, 20345568, 20393306, 20471131, 20533066, 20542038, 20607553, 20669231, 20675164, 20691492, 20714725, 20722701, 20843199, 20843714, 20863724, 20876715, 20979574, 21082925, 21145803, 21173098, 21175851, 21183736, 21228038, 21346098, 21384276, 21389980, 21654321, 21659727, 21679129, 21683310, 21689013, 21736562, 21770687, 21848963, 21862411, 21901659, 21901660, 21947086, 22048270, 22160492, 22183642, 22265917, 22361898, 22395570, 22674401, 22883388, 22989571, 23098241, 23160508, 23188073, 23322654, 23418762, 23512844, 23577916, 23708276, 23803887, 23953397, 23990522, 24054178, 24081379, 24264720, 24282517, 24321703, 24339903, 24401005, 24574363, 25204225, 25293352, 25311314, 25314357, 25352340, 25450707, 25454304, 25457201, 25467056, 25495562, 25605615, 25608116, 26142323, 26164493, 26365338, 26456104, 26504855, 26633544, 26725908, 26992127, 27031690, 27170390, 27518069, 27740525, 27753142, 27784128, 27789107, 27915113, 27936457, 28111337, 28527894, 28558946, 28586532, 28624580, 28678636, 28771247, 28930842, 29195602, 29270100, 29454332, 29563373, 29589198, 29620054, 29722188, 30145563, 30277817, 30340937, 30389309, 30427934, 30691187, 30913256, 31132316, 31422818, 31679808, 3367936, 3475981, 7847378, 9021970, 9162021, 9215754, 9234244, 9265905, 9268673, 9301586, 9341868, 9380706, 9382962, 9410472, 9425935, 9453492, 9462220, 9510559, 9546397, 9548560, 9558289, 9609537, 9691000, 9723005, 9753040, 9753042, 9824612, 9851896, 9851897, 9852416, 9864039, 9867744, 9884584		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis	Hemochromatosis	Pubtator	10029606, 10085150, 10090890, 10194428, 10205270, 10318901, 10376150, 10460595, 10471457, 10520044, 10572108, 10583922, 10673304, 10681280, 10719381, 10753085, 10764716, 10771090, 10792295, 10803694, 10910932, 10986220, 11040018, 11071669, 11078891, 11087882, 11090050, 11122155, 11230165, 11280947, 11313241, 11336458, 11336795, 11358905, 11446670, 11478530, 11529872, 11579943, 11581431, 11673657, 11710725, 11887210, 11897618, 11940510, 12091366, 12117686, 12130528, 12377814, 12393473, 12406098, 12429850, 12456502, 12464008, 12542563, 12614226, 12846904, 12865278, 1349923, 14632577, 14668040, 14670915, 14691533, 14692443, 14729817, 14740507, 15047754, 15121519, 15147384, 15447900, 15486069, 15528318, 15610558, 15642540, 15671444, 15840699, 15841433, 15858186, 15885473, 15929798, 16043695, 16102632, 16174659, 16204164, 16222171, 16418278, 16419611, 16451136, 16509978, 16533407, 16629172, 16672055, 16802007, 16824219, 16838333, 16878186, 17108759, 17160266, 17450498, 17461505, 17597476, 17626021, 17650303, 17666895, 17724144, 17847004, 17956864, 18007147, 18025154, 18036208, 18061976, 18079565, 18199861, 18557745, 18585964, 18651828, 18752323, 18925311, 18990219, 19030706, 19214511, 19286879, 19342478, 19359997, 19380292, 19608676, 19673882, 19725855, 19759876, 19819738, 19822954, 19860558, 19876870, 19892936, 19931264, 20008199, 20084012, 20099304, 20107990, 20393306, 20424537, 20583211, 20670400, 20814896, 20863724, 20954257, 21173098, 21228038, 21407826, 21412944, 21770687, 21815188, 21959608, 22048270, 22183642, 22196777, 22228247, 22232660, 22297603, 22361898, 22530027, 22675794, 22719190, 22720276, 22773607, 23018356, 23139229, 23389292, 23433094, 23509881, 23512844, 23728724, 23775519, 23794343, 23861158, 23991213, 24036531, 24068123, 24081379, 24184271, 24244122, 24282517, 24339903, 24395214, 24556216, 25044717, 25152992, 25311314, 25314357, 25352340, 25450707, 25457201, 25605615, 25654085, 25706573, 25822977, 25955572, 26142323, 26153218, 26365338, 26501199, 26633544, 26799139, 26852655, 27095682, 27124787, 27173269, 27221532, 27317329, 27518069, 27553379, 27561698, 27740525, 27816425, 28213472, 28228131, 28335084, 28406842, 28981372, 29070555, 29201641, 29270100, 29301508, 29362711, 29589198, 29743178, 29968489, 30244162, 30389309, 30514216, 30651232, 30691187, 31054269, 31422818, 31622736, 32228506, 32329251, 32414353, 32418850, 32641120, 32745684, 32844323, 32938653, 33057367, 33231665, 33326952, 33427739, 33457423, 33596964, 34048062, 34051741, 34440336, 34570359, 34573286, 34582652, 34583728, 34946929, 35320401, 35456383, 35567766, 35659379, 35668470, 35709753, 36168081, 36235117, 36572138, 36834208, 37118679, 37179448, 37260121, 37360939, 37569253, 37870835, 37930135, 39563390, 39617311, 39653412, 9326178, 9371823, 9401103, 9432031, 9462220, 9465039, 9497921, 9585606, 9609537, 9662273, 9705350, 9753040, 9753042, 9824612, 9873093, 9893753, 9990067	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis	Hemochromatosis	CTD_human_DG	11050162, 16793930, 17119292, 17236123, 17255318, 17258727, 17376729, 18317567, 20160468, 20843714, 21411349, 22383097, 23705020, 25874029		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis	Hemochromatosis	LHGDN	11446670, 12045778, 12180078, 12512743, 12601293, 12673276, 12915468, 14671616, 14703688, 14703689, 14742317, 15044462, 15347835, 15607698, 15740492, 15880641, 15965644, 16043695, 16103673, 16113534, 16315134, 16364490, 16433696, 16468045, 16838333, 17160239, 17420932, 17661915, 17710673, 17767550, 17847004, 18036208, 18042412, 18054440, 18061976, 18079565, 18327584, 18525129, 18665827, 19018338		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis	Hemochromatosis	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis type 2	Hemochromatosis	Pubtator	17339196, 26142323	Associate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis type 3	Hemochromatosis	Pubtator	17298224	Associate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis type 4	Hemochromatosis	Pubtator	12730114	Associate	★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	CLINVAR_DG	10027711, 10348711, 10381492, 10406905, 10477778, 10930379, 11380448, 11583312, 11812557, 11874997, 12436244, 14729817, 15059842, 15858186, 18199861, 19159930, 19176287, 19554541, 20723024, 21243428, 21452290, 22021457, 22023246, 22531912, 22909823, 23178241, 24619398, 25528068, 25767899, 26365338, 27124787, 8696333, 8916933, 8943161, 9162021, 9292507, 9321765, 9341868, 9356458, 9531249, 9569177, 9585606, 9694698, 9869612		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	10094552, 10189391, 10194428, 10207799, 10216143, 10343890, 10349514, 10383365, 10403350, 10423072, 10477452, 10491370, 10575540, 10627947, 10638700, 10660483, 10660486, 10681280, 10698721, 10870847, 10930379, 10942934, 10953948, 10953954, 10953960, 11001625, 11040194, 11042033, 11087882, 11199371, 11216661, 11313265, 11313310, 11313311, 11336458, 11358388, 11386022, 11399207, 11423500, 11445256, 11469076, 11478530, 11513196, 11551099, 11568090, 11676983, 11686223, 11738096, 11778658, 11783942, 11887210, 11903354, 11939483, 11960574, 11981749, 11984516, 12059121, 12064925, 12091366, 12091367, 12121511, 12190182, 12210292, 12382199, 12382201, 12405528, 12416729, 12482411, 12508400, 12508966, 12512743, 12537660, 12547237, 12568299, 12638463, 12673276, 12678056, 12681966, 12707938, 12753664, 12850493, 12949720, 12957297, 12972032, 14614395, 14633776, 14641999, 14648375, 14668040, 14673391, 14675248, 15013567, 15025725, 15042317, 15059075, 15120171, 15147384, 15191520, 15324319, 15345103, 15447900, 15486069, 15517265, 15528154, 15538648, 15603661, 15607698, 15642666, 15654232, 15737885, 15749661, 15834437, 15871018, 15910487, 15928800, 15965644, 16043695, 16083706, 16103673, 16186539, 16225403, 16240673, 16315132, 16315138, 16344062, 16388329, 16451136, 16476869, 16509978, 16533407, 16545687, 16550033, 16762569, 16824219, 16936157, 16996754, 16998622, 17061732, 17064691, 17067586, 17098454, 17108759, 17298224, 17394393, 17470136, 17483072, 17486050, 17492589, 17540589, 17565641, 17597476, 17687449, 17724144, 17726683, 17729397, 17847004, 17852457, 17886335, 17919354, 17943492, 17949288, 17951290, 17956864, 18025154, 18045552, 18157833, 18164223, 18363869, 18430498, 18521456, 18585964, 18624620, 18651828, 18657084, 18665827, 18713659, 18752323, 18939938, 19008010, 19072401, 19174578, 19214108, 19214511, 19286879, 19359997, 19380292, 19440063, 19477142, 19554541, 19759876, 19820015, 19860558, 19907150, 19907151, 20008199, 20031565, 20099304, 20101754, 20117027, 20345568, 20393306, 20471131, 20533066, 20542038, 20669231, 20675164, 20691492, 20714725, 20722701, 20843199, 20863724, 20876715, 20979574, 21082925, 21145803, 21173098, 21175851, 21183736, 21228038, 21346098, 21384276, 21389980, 21654321, 21659727, 21679129, 21683310, 21689013, 21770687, 21848963, 21862411, 21901659, 21901660, 21947086, 22160492, 22183642, 22265917, 22361898, 22395570, 22674401, 22883388, 23098241, 23160508, 23188073, 23322654, 23418762, 23512844, 23708276, 23803887, 23953397, 23990522, 24054178, 24081379, 24264720, 24282517, 24321703, 24401005, 24574363, 25293352, 25311314, 25314357, 25352340, 25450707, 25454304, 25457201, 25467056, 25495562, 25605615, 26142323, 26164493, 26365338, 26456104, 26504855, 26633544, 26725908, 27031690, 27170390, 27518069, 27740525, 27753142, 27784128, 27789107, 27915113, 27936457, 28111337, 28527894, 28558946, 28624580, 28678636, 28771247, 28930842, 29270100, 29454332, 29563373, 29589198, 29968489, 30145563, 30277817, 30291871, 30389309, 30427934, 30691187, 30913256, 31132316, 31422818, 31679808, 3367936, 3475981, 7847378, 9021970, 9032645, 9162021, 9215754, 9234244, 9265905, 9268673, 9301586, 9341868, 9380706, 9401103, 9410472, 9425935, 9453492, 9510559, 9546397, 9548560, 9558289, 9723005, 9851896, 9851897, 9867744, 9884584		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	UNIPROT_DG	10094552, 10194428, 10401000, 10575540, 11423500, 11446670, 12542741, 12584229, 12737937, 14633868, 15046077, 15965644, 18157833, 8696333, 9024376, 9106528, 9620340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	GENOMICS_ENGLAND_DG	12060140, 18199861, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 3	Hemochromatosis	BEFREE	11778658, 12547237, 17298224, 18430498		★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 4	Hemochromatosis	BEFREE	11518736, 18160317, 18430498		★☆☆☆☆ Found in Text Mining only
Hemoglobin H Disease	Hemoglobin H Disease	BEFREE	12667993		★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	BEFREE	17160266		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	LHGDN	15802547		★☆☆☆☆ Found in Text Mining only
Hemosiderosis	Hemosiderosis	Pubtator	11473464	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Veno-Occlusive Disease	Hepatic veno-occlusive disease-immunodeficiency syndrome	BEFREE	15834437		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatitis C	Hepatitis c	Pubtator	11788568	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatitis C Chronic	Hepatitis c	Pubtator	11079015, 15865084, 15991291, 17135308, 17160239, 20208481, 31056361, 34582652	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Chronic	Hepatitis	Pubtator	19359997	Associate	★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	12619106, 16550033, 16998622, 17182432, 19640812, 22098612		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	LHGDN	14742317		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	29270100	Associate	★☆☆☆☆ Found in Text Mining only
Hepatomegaly	Hepatomegaly	Pubtator	10471457, 15929798, 20583211, 26771691, 28617828	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	10029606, 10071189, 10084283, 10085150, 10087990, 10189855, 10194428, 10205270, 10233369, 10318901, 10348824, 10349514, 10369785, 10429833, 10460595, 10464603, 10471457, 10471458, 10488699, 10488796, 10491369, 10491370, 10519366, 10535463, 10556042, 10638746, 10660482, 10681280, 10681454, 10692680, 10705106, 10719381, 10756356, 10756357, 10771090, 10772870, 10792295, 10803694, 10861683, 10878571, 10910932, 10918159, 10925986, 10939445, 10940080, 10942923, 10953950, 10953951, 10953953, 10953956, 10953957, 10953958, 10979877, 11001626, 11001800, 11005145, 11017930, 11027676, 11042033, 11068087, 11078817, 11078891, 11096344, 11114141, 11146662, 11168438, 11172496, 11186424, 11196670, 11205685, 11230165, 11260522, 11358357, 11358390, 11358905, 11399207, 11399828, 11436126, 11465544, 11479183, 11500061, 11500066, 11514397, 11531973, 11551098, 11568090, 11673399, 11676983, 11686223, 11710725, 11722599, 11774187, 11778658, 11778984, 11788568, 11812557, 11826284, 11841990, 11867720, 11875012, 11887210, 11888608, 11898957, 11984516, 12002748, 12028655, 12030278, 12077102, 12098643, 12130528, 12148086, 12180078, 12208162, 12210292, 12384978, 12406888, 12416729, 12427496, 12429850, 12436244, 12464008, 12482402, 12490283, 12508413, 12512743, 12537659, 12542741, 12547214, 12584229, 12601293, 12601495, 12614226, 12624489, 12657433, 12691865, 12699243, 12704388, 12714262, 12737949, 12763366, 12790309, 12801950, 12816900, 12846904, 12941522, 12951308, 12952143, 12972035, 14571105, 14618419, 14632577, 14633776, 14670915, 14691533, 14703688, 14703689, 14729817, 14765621, 15017658, 15017669, 15139495, 15147384, 15223008, 15247188, 15254010, 15273174, 15280838, 15319650, 15366698, 15464654, 15466004, 15503019, 15508107, 15514099, 15528154, 15538648, 15642666, 15668502, 15671444, 15684872, 15706574, 15710569, 15726660, 15727249, 15727899, 15737886, 15737887, 15740492, 15840699, 15841433, 15842597, 15863667, 15871018, 15928800, 15929798, 15956653, 15986199, 15995871, 16011012, 16055358, 16140024, 16174659, 16240673, 16257244, 16315134, 16315135, 16315138, 16409153, 16570681, 16615226, 16629171, 16629172, 16634833, 16672055, 16849282, 16878186, 16880463, 16893896, 16923464, 16996882, 17134494, 17391316, 17428702, 17450498, 17525682, 17543888, 17562347, 17626021, 17635368, 17639389, 17661761, 17661915, 17666895, 17689879, 17729390, 17767550, 17847004, 17904763, 17943492, 17956864, 18007147, 18036208, 18042412, 18045552, 18053083, 18079564, 18079565, 18079569, 18080122, 18157833, 18164223, 18189029, 18199861, 18263976, 18273820, 18276042, 18325820, 18525129, 18684194, 18711158, 18712630, 18752323, 18762941, 18810584, 18848602, 18848943, 18990219, 19000667, 19034258, 19146986, 19214511, 19309267, 19433916, 19608676, 19673882, 19681031, 19725855, 19759876, 19820015, 19822954, 19892936, 19930418, 19942354, 1994730, 20107990, 20193033, 20196837, 20393306, 20424537, 20560808, 20658468, 20670400, 20714725, 20814896, 20837779, 20843714, 20954257, 20974500, 21039223, 21346098, 21411349, 21412944, 21510925, 21689013, 21736562, 21901659, 21925635, 21959608, 22093335, 22098610, 22196777, 22408404, 22531912, 22674401, 22735619, 22773607, 22774841, 23121079, 23188073, 23389292, 23433094, 23509881, 23577916, 23792061, 23794343, 23861158, 23924495, 23953397, 23985001, 24054178, 24068123, 24282517, 24319245, 24399095, 24556216, 25064704, 25277871, 25311314, 25457201, 25504993, 25608116, 25880808, 25976471, 25990487, 26142323, 26153218, 26270952, 26365338, 26416321, 26474245, 26501199, 26633544, 26799139, 26893171, 27124787, 27173269, 27221532, 27317329, 27659401, 27936457, 28228131, 28267532, 28276324, 28280078, 28335084, 28406842, 28586532, 28727322, 28771247, 28930842, 28981372, 29134618, 29195602, 29270100, 29743178, 29927322, 30195625, 30244162, 30339210, 30798813, 31113586, 31226389, 31582009, 8625192, 8931958, 9107091, 9122230, 9162021, 9183181, 9234244, 9341868, 9358014, 9371823, 9401103, 9410475, 9460809, 9462550, 9465039, 9482913, 9497921, 9510559, 9520858, 9546397, 9548560, 9550327, 9576576, 9577377, 9616322, 9620340, 9620344, 9627157, 9642097, 9658732, 9662273, 9727731, 9732941, 9753041, 9808632, 9833909, 9836708, 9858243, 9886303, 9893753, 9990067		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary hemochromatosis	Hereditary Hemochromatosis	CTD_human_DG	11050162, 16793930, 17119292, 17236123, 17255318, 17258727, 17376729, 18317567, 20160468, 20843714, 21411349, 22383097, 23705020, 25874029		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary hemochromatosis	Hereditary Hemochromatosis	CLINVAR_DG	11358905, 11399207, 11479183, 11874997, 12429850, 14673107, 16132052, 19554541, 24729993, 26153218, 26365338, 8696333, 9162021, 9356458		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	19291797		★☆☆☆☆ Found in Text Mining only
Hereditary spherocytosis	Hereditary Spherocytosis	BEFREE	12961032, 19380292, 29563373, 3777017		★☆☆☆☆ Found in Text Mining only
HFE-Associated Hereditary Hemochromatosis	Hemochromatosis	BEFREE	12547214, 19444013, 20583211, 24574363		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	12002748, 29683071		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	20503453, 31220083	Associate	★☆☆☆☆ Found in Text Mining only
Hyperferritinemia	Hyperferritinemia	Pubtator	12730114, 16586555, 18209779, 22183642, 24395214, 25864213, 34048062, 34440336, 35895739, 37428170	Associate	★☆☆☆☆ Found in Text Mining only
Hyperferritinemia hereditary with congenital cataracts	Hyperferritinemia	Pubtator	12730114, 37569253	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	10535879		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	17852457, 20669231, 27518069	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	25634189, 27317329, 28151915, 30571559, 37175507	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	15345103, 15990686, 23927520, 25231511, 28151915, 30571559		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	GWASCAT_DG	21909115		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	GWASDB_DG	21909115		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	18651828	Associate	★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	20503453, 35353274	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	15706574		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	26771691	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	27659401		★☆☆☆☆ Found in Text Mining only
Hypocalciuric hypercalcemia, familial, type 1	Hypocalciuric Hypercalcemia	BEFREE	10376150, 10488699, 10488796, 10861683, 10942923, 11224684, 11230165, 11310426, 11479183, 11722599, 15910487, 21689013, 28267532, 9732941		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	15657376, 15928800, 20160468		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	35659379	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	18651828	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	21412944	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	25504993		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	25504993	Associate	★☆☆☆☆ Found in Text Mining only
IgG Deficiency disorder	IgG Deficiency Disorder	BEFREE	12850493		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	15840699	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	20345752		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	27115882		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	19401444, 26771691	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	15929194	Associate	★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	BEFREE	10979877, 12614226, 18276042, 19747287, 29194702		★☆☆☆☆ Found in Text Mining only
Iron Metabolism Disorders	Iron Metabolism Disorders	BEFREE	10953958, 11179246, 12425371, 12429850, 12537659, 15517265, 15727899, 16257244, 17666895, 20107990, 20714725		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron Metabolism Disorders	Iron metabolism disorder	Pubtator	11358905, 11473464, 17666895, 32418850	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron Overload	Iron Overload	BEFREE	10027719, 10084283, 10207799, 10235273, 10348824, 10383365, 10471457, 10477452, 10535463, 10535879, 10627947, 10655270, 10660482, 10660483, 10719381, 10764716, 10845668, 10895137, 10925986, 10940080, 10942923, 10953953, 10953958, 10953960, 10979877, 11018711, 11042033, 11051367, 11068087, 11078817, 11090050, 11093725, 11099895, 11114141, 11260010, 11313241, 11313310, 11358388, 11358389, 11358905, 11399207, 11399828, 11500061, 11510009, 11673399, 11763282, 11869934, 11898957, 11943417, 11960574, 12098643, 12130528, 12190182, 12377814, 12382199, 12382201, 12401308, 12401309, 12464008, 12547214, 12547237, 12557137, 12606179, 12638463, 12667993, 12678056, 12681966, 12737949, 12779071, 12790309, 12792703, 12915468, 12972032, 14635204, 14668040, 14703689, 14704284, 14752836, 14757427, 14765621, 15075083, 15147384, 15182337, 15280838, 15324319, 15338274, 15607698, 15637751, 15673318, 15777346, 15863206, 15910487, 15928800, 15965644, 15974953, 15991291, 16083706, 16140024, 16225403, 16234038, 16273299, 16315132, 16315134, 16424663, 16446107, 16451136, 16493621, 16509978, 16545687, 16644885, 16678024, 16762569, 16797244, 16878186, 17002922, 17006922, 17098454, 17240320, 17297430, 17410459, 17412760, 17490902, 17525682, 17589946, 17597476, 17661761, 17679134, 17724144, 17729389, 17729390, 17729397, 17767550, 17874981, 17904763, 17949288, 17976429, 18007147, 18054440, 18061182, 18073584, 18079564, 18160317, 18199861, 18395717, 18462824, 18525129, 18585964, 18665827, 18752323, 18820912, 18990219, 19000667, 19008010, 19059216, 19095082, 19115475, 19146986, 19214108, 19286879, 19433916, 19444013, 19640812, 19809335, 19820015, 19822954, 19860558, 19892936, 19907150, 19907151, 19930418, 20031565, 20084012, 20101754, 20107990, 20190684, 20193033, 20208481, 20345752, 20371435, 2049467, 20563578, 20575041, 20583211, 20814896, 20843199, 20843714, 21175851, 21228038, 21346098, 21396368, 21412944, 21669570, 21862411, 21901660, 21947086, 22098610, 22099368, 22183642, 22228247, 22265917, 22297603, 22318759, 22408404, 22774841, 23098241, 23144979, 23389292, 23512844, 23728724, 23775519, 23801727, 23845776, 23924495, 24282517, 24319245, 24321703, 24399095, 25277871, 25311314, 25442240, 25605615, 25706573, 25841232, 25976957, 26142323, 26456104, 26474245, 26497867, 26501199, 26725908, 26799139, 27518069, 27753142, 27784128, 27915113, 28211293, 28280078, 28335084, 28727322, 28771247, 29195602, 29301508, 29445185, 29454332, 29620054, 29656314, 29695288, 29743178, 29966105, 30247984, 30427934, 30683557, 30691187, 30913256, 31132316, 31188032, 31522215, 31679808, 31707418, 31717526, 3777017, 7806210, 8773911, 9371823, 9410475, 9460809, 9462220, 9510559, 9558289, 9658731, 9727731, 9753042, 9755249, 9801878, 9851896, 9869610, 9922318		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	10027719, 10764716, 10895137, 11090050, 11280947, 11358905, 11529872, 11581431, 12077102, 12130528, 12377814, 12406098, 12456502, 12464008, 12584229, 12792703, 14635204, 14668040, 14670915, 14691533, 14692443, 15060098, 15070663, 15366698, 15610558, 15673318, 15841433, 15858186, 16043695, 16138214, 16210711, 16451136, 16644885, 16838333, 16878186, 17079357, 17160239, 17297430, 17339196, 17490902, 17589946, 17726683, 17976429, 18007147, 18061182, 18073584, 18199861, 18395717, 18524764, 18566337, 18585964, 18752323, 18809758, 19018338, 19115475, 19286879, 19380292, 19673882, 19819738, 19822954, 19860558, 19892936, 20008199, 20027482, 20084012, 20107990, 20583211, 20669231, 21228038, 21412944, 21770687, 21796974, 22232660, 23144979, 23389292, 23657305, 23728724, 23862168, 24036531, 24244122, 24282517, 24339903, 24729993, 25486930, 25605615, 25841232, 26501199, 26633544, 26799139, 27077775, 27095682, 27124787, 27518069, 27740525, 27784128, 28211293, 28335084, 29301508, 30651232, 30657865, 30691187, 30913256, 31522215, 31707418, 32329251, 32418850, 32464486, 32588561, 32652459, 32844323, 33427739, 33758941, 34048062, 34291615, 34440336, 34570359, 34583728, 35052458, 35644542, 35659379, 35668470, 35709753, 35895739, 37118679, 37260121, 37870835, 37971775, 38003490, 39202328, 39617311, 9032645, 9371823, 9462220, 9753042	Associate	★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	LHGDN	14670915, 16055358, 16364490, 16433696, 17062032, 17729389		★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	BEFREE	29927322		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	17389307, 17878720, 21346098		★☆☆☆☆ Found in Text Mining only
Jervell-Lange Nielsen Syndrome	Jervell-Lange Nielsen Syndrome	BEFREE	29270100		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	LHGDN	16047841		★☆☆☆☆ Found in Text Mining only
Juvenile hemochromatosis	Hemochromatosis	BEFREE	10205270, 10792295, 11001626, 11005792, 15466004, 15603911, 15685557, 16493621, 24321703, 9450181		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney Diseases	Kidney Disease	BEFREE	24433479, 31188032		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	24785111, 30984307	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	24785111		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12002748, 15775751, 16314188, 23861158		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	12002748		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	25085015, 27077775	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11399828, 11836162, 12002748, 15863206, 17107905		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	BEFREE	18419350		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	18419350		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10660482, 10771090, 10845668, 10918159, 11500061, 12003382, 12591066, 12865278, 15017669, 15508107, 15668502, 15726660, 15894495, 15929796, 16003728, 17412760, 18061182, 18164971, 20019189, 20101754, 20196837, 20673159, 21240526, 21669570, 21925577, 22989571, 23845776, 26535689		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	15929796, 18164971		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	10471457, 11079015, 11788568, 12377814, 12865278, 16802007, 17135308, 19030706, 19359997, 19380292, 24556216, 27816425, 28617828, 32745684, 35567766, 35659379, 37179448	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	BEFREE	10604569, 10655270, 10673304, 11093725, 11168438, 11473464, 11500061, 12003382, 12109859, 12557137, 12586300, 12591066, 12865278, 12957297, 12957298, 14557859, 15508107, 15928800, 16416733, 17101320, 18061182, 19930418, 20583211, 20673159, 20814896, 21669570, 22265917, 22297603, 22989571, 23990522, 24264720, 24556216, 28617828, 30145563, 31622736		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	LHGDN	12586300, 16802007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	BEFREE	12003382		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	10376150, 10673304, 14740507, 15858186, 17079357, 17589946, 17650303, 18199861, 19018338, 19115475, 19359997, 20583211, 22297603, 23657305, 25450707, 25654085, 30651232, 30657865, 34582652, 39653412	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Diseases Alcoholic	Liver disease	Pubtator	11579943, 17589946, 20424537, 23657305, 33596964	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	18061182, 18593631	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	10771090, 15726660		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	29270100		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	29270100	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	30291871		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31856248	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	9149941		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	33693920, 38003490	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	9149941		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	9149941		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	9149941		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	12002748		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15894659, 16503999, 16823846, 17919354, 20099304, 21243428, 23281741, 23681799, 24443403, 26535689		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	10673304, 11500061, 26474245, 31622736		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29191591		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	24798971, 26535689		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16003728		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23389292, 24879917, 27317329, 31351462		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15018631, 15775751, 16003728, 16216474, 16314188, 16503999, 18086784, 19291797, 20099304, 20669231, 23281741, 24533143, 25450707, 26107216, 26535689, 26893171, 28358914, 28527894, 9358014		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	12529348		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16503999		★☆☆☆☆ Found in Text Mining only
Meconium ileus	Meconium ileus	BEFREE	10464603, 12885340		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	19386095		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	19386095	Stimulate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	22958902	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	27317329	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	26054392, 26771691, 27317329	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	21183736, 23144745, 26771691		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	17212677		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	34570359	Associate	★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	12707938, 16824219, 29518107		★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	27077775		★☆☆☆☆ Found in Text Mining only
Multiple endocrine neoplasia Type 2	Multiple Endocrine Neoplasia	BEFREE	9380706		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 2a	Multiple Endocrine Neoplasia	BEFREE	9380706		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	17001480		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	15014978, 15955425, 18675463, 20586792, 22883388		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	15955425		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	22883388, 29201641	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	17001480		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	12624489, 16462140, 17001480, 17654685, 20563578, 23160508, 25841232, 27077775		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CTD_human_DG	17001480		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	25841232, 27077775	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	15018631	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	10719381, 12923017, 20447705		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	LHGDN	12746412, 12850485		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	BEFREE	12923017, 18810584		★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	20097100		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10918159, 23389292, 28527894		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	33057367	Associate	★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	15018631	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19560233, 19775775, 20060900, 20734416, 21190189, 21243428, 24533143, 25491948, 28527894		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	24533143	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	16824219, 32143980, 35353274	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	16824219, 17119292, 18325820, 19560233, 19775775, 20060900, 21243428, 21346098, 21349849, 23429074, 23813494, 26660104, 29315562, 29391061		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	18419350		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Hemochromatosis type 1	Hemochromatosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	12779071, 14752836, 15991291, 19267193, 20216079, 20503453, 21354231, 22611049, 23144979, 23924495, 23990522, 27894410		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	10488699, 11513189, 12085358, 12792703, 15293136, 15637751, 17680648, 17916170, 19267193		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	14752836, 30860476		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	15841433	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Onycholysis	Onycholysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	17284543, 24401005, 25822977, 30651232, 33450138, 35567766	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis Knee	Osteoarthritis	Pubtator	24401005	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	19942354, 30427934		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis of hip	Osteoarthritis Of Hip	GWASCAT_DG	30374069		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis of hip	Osteoarthritis Of Hip	CTD_human_DG	30374069		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	22209421		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	15928800		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	18661088		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	25822977, 34573286	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16216474, 20669231	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	24798971, 26535689		★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic diseases	Pubtator	19030706	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	17666895, 24798971	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	17666895	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	17666895		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	LHGDN	12098643		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	12902032, 16824219, 16935420, 17056630, 18300942, 18325820, 21384276, 25863172, 26340960, 29315562		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	CTD_human_DG	16824219		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	16824219, 23750121, 40141040	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	16824219, 18300942		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	12902032		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	30860476		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	16847405, 19374518		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	19374518, 33057367	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	16847405, 19374518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pleural effusion disorder	Pleural effusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	19401444	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	Pubtator	35848311, 38244120	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia Vera	Polycythemia Vera	BEFREE	15763983		★☆☆☆☆ Found in Text Mining only
Polymyalgia Rheumatica	Polymyalgia rheumatica	Pubtator	30657865	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	15668490		★☆☆☆☆ Found in Text Mining only
Porphyria Cutanea Tarda	Porphyria Cutanea Tarda	BEFREE	10189391, 10688809, 11069625, 11260010, 11499833, 12622622, 12673077, 12699243, 12957298, 15101996, 15239394, 15280838, 17062032, 17298224, 17919354, 18189029, 18565178, 19001803, 20099833, 24068123, 29774528, 30683557, 8773911, 8985283, 9301586, 9425935, 9620340, 9638727, 9727731		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porphyria Cutanea Tarda	Porphyria cutanea tarda	Pubtator	10688809, 11069625, 17298224, 17461505, 18809758, 18855993, 24068123, 37360939	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porphyria Cutanea Tarda	Porphyria Cutanea Tarda	LHGDN	15101996, 15280838, 17062032, 17298224, 17729389		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porphyria Cutanea Tarda	Porphyria Cutanea Tarda	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porphyria Cutanea Tarda	Porphyria Cutanea Tarda	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porphyria, South African type	Porphyria	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Porphyruria	Porphyruria	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Portal Hypertension	Portal Hypertension	BEFREE	19440063		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	12002748, 17107905		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	23861158		★☆☆☆☆ Found in Text Mining only
Premature osteoarthritis	Premature osteoarthritis	BEFREE	30427934		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	15060098, 17047092		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	24081379		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16003728		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	16507112, 35709753	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	15991291, 20190684, 22098610, 23924495		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	35442992, 37176017	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21145803		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	32014855	Associate	★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	22929029, 26597663		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10990216, 16468045		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	12635863		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	BEFREE	19440063		★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	30657865	Associate	★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	21643746		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21643746		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764, 28540026, 30285260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schnitzler Syndrome	Schnitzler Syndrome	BEFREE	19608676		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe periodontitis	Periodontitis	BEFREE	28586532		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	11069625	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	11069625, 16678024		★☆☆☆☆ Found in Text Mining only
Spherocytosis Hereditary	Spherocytosis	Pubtator	10895137, 19380292, 29563373	Associate	★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	LHGDN	12635863		★☆☆☆☆ Found in Text Mining only
Sporadic porphyria cutanea tarda	Porphyria Cutanea Tarda	BEFREE	10084283, 11069625, 11929045, 15740492, 3261053		★☆☆☆☆ Found in Text Mining only
Sporadic porphyria cutanea tarda	Porphyria Cutanea Tarda	Orphanet			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23991213	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	15293136, 17640859, 17916170, 19072401, 19267193, 19359997, 23924495		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23389292, 24879917, 27317329, 31351462		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23389292, 27317329	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thalassemia	Thalassemia	Pubtator	17160266	Associate	★☆☆☆☆ Found in Text Mining only
Thalassemia Intermedia	Thalassemia	BEFREE	15075083		★☆☆☆☆ Found in Text Mining only
Thalassemia Minor	Thalassemia	BEFREE	14703689		★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	11836162		★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	Pubtator	17654685	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	10233369, 10520044	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	19706067		★☆☆☆☆ Found in Text Mining only
Varicose Veins	Varicose veins	Pubtator	16102632	Associate	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	26416403		★☆☆☆☆ Found in Text Mining only
Variegate Porphyria	Variegate Porphyria	BEFREE	10401000		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Variegate Porphyria	Variegate Porphyria	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Variegate Porphyria	Variegate Porphyria	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Venous Insufficiency	Venous insufficiency	Pubtator	16102632	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	10233369, 10520044	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	10520044	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	15642540, 23861158	Associate	★☆☆☆☆ Found in Text Mining only
VLCAD deficiency	Very long-chain acyl-coa dehydrogenase deficiency	Pubtator	17852457	Associate	★☆☆☆☆ Found in Text Mining only
X-linked sideroblastic anemia	Sideroblastic Anemia, X-Linked	BEFREE	10029606		★☆☆☆☆ Found in Text Mining only