Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	353
Gene name	Adenine phosphoribosyltransferase
Gene symbol	APRT
Synonyms (NCBI Gene)	AMPAPRTD
Chromosome	16
Chromosome location	16q24.3
Summary	Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from ade

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28999113	A>G	Pathogenic	Intron variant, missense variant, coding sequence variant
rs104894506	T>A	Pathogenic	Coding sequence variant, missense variant
rs104894507	C>T	Pathogenic	Coding sequence variant, stop gained
rs104894508	A>G	Pathogenic	Coding sequence variant, missense variant
rs281860263	->A	Pathogenic	Splice donor variant
rs281860265	->TCGG	Pathogenic	Frameshift variant, coding sequence variant
rs281860266	C>A	Pathogenic	Missense variant, coding sequence variant, intron variant
rs745594160	->A	Pathogenic	Splice donor variant

138

Show/Hide all (138)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032354	hsa-let-7b-5p	Proteomics	18668040
MIRT047618	hsa-miR-10a-5p	CLASH	23622248
MIRT046502	hsa-miR-15b-5p	CLASH	23622248
MIRT042963	hsa-miR-324-3p	CLASH	23622248
MIRT042286	hsa-miR-484	CLASH	23622248
MIRT791303	hsa-miR-1271	CLIP-seq
MIRT791304	hsa-miR-182	CLIP-seq
MIRT791305	hsa-miR-3153	CLIP-seq
MIRT791306	hsa-miR-3189-5p	CLIP-seq
MIRT791307	hsa-miR-320a	CLIP-seq
MIRT791308	hsa-miR-320b	CLIP-seq
MIRT791309	hsa-miR-320c	CLIP-seq
MIRT791310	hsa-miR-320d	CLIP-seq
MIRT791311	hsa-miR-3940-5p	CLIP-seq
MIRT791312	hsa-miR-4429	CLIP-seq
MIRT791313	hsa-miR-4507	CLIP-seq
MIRT791314	hsa-miR-4648	CLIP-seq
MIRT791315	hsa-miR-4654	CLIP-seq
MIRT791316	hsa-miR-4668-5p	CLIP-seq
MIRT791317	hsa-miR-4713-5p	CLIP-seq
MIRT791318	hsa-miR-4758-3p	CLIP-seq
MIRT791319	hsa-miR-4769-5p	CLIP-seq
MIRT791320	hsa-miR-494	CLIP-seq
MIRT791321	hsa-miR-96	CLIP-seq
MIRT791322	hsa-miR-1291	CLIP-seq
MIRT791323	hsa-miR-146b-3p	CLIP-seq
MIRT791324	hsa-miR-3192	CLIP-seq
MIRT791325	hsa-miR-3689a-3p	CLIP-seq
MIRT791326	hsa-miR-3689c	CLIP-seq
MIRT791327	hsa-miR-4492	CLIP-seq
MIRT791328	hsa-miR-4498	CLIP-seq
MIRT791329	hsa-miR-4505	CLIP-seq
MIRT791330	hsa-miR-4728-5p	CLIP-seq
MIRT791331	hsa-miR-762	CLIP-seq
MIRT1933418	hsa-miR-1207-3p	CLIP-seq
MIRT1933419	hsa-miR-1270	CLIP-seq
MIRT1933420	hsa-miR-3135b	CLIP-seq
MIRT1933421	hsa-miR-3145-3p	CLIP-seq
MIRT1933422	hsa-miR-331-3p	CLIP-seq
MIRT1933423	hsa-miR-3929	CLIP-seq
MIRT1933424	hsa-miR-4267	CLIP-seq
MIRT1933425	hsa-miR-4418	CLIP-seq
MIRT1933426	hsa-miR-4419b	CLIP-seq
MIRT1933427	hsa-miR-4478	CLIP-seq
MIRT1933428	hsa-miR-450b-3p	CLIP-seq
MIRT1933429	hsa-miR-4683	CLIP-seq
MIRT1933430	hsa-miR-4713-3p	CLIP-seq
MIRT1933431	hsa-miR-4749-3p	CLIP-seq
MIRT1933432	hsa-miR-4781-3p	CLIP-seq
MIRT1933433	hsa-miR-509-3-5p	CLIP-seq
MIRT1933434	hsa-miR-509-5p	CLIP-seq
MIRT1933435	hsa-miR-620	CLIP-seq
MIRT1933436	hsa-miR-638	CLIP-seq
MIRT1933437	hsa-miR-769-3p	CLIP-seq
MIRT1933418	hsa-miR-1207-3p	CLIP-seq
MIRT1933419	hsa-miR-1270	CLIP-seq
MIRT1933420	hsa-miR-3135b	CLIP-seq
MIRT1933421	hsa-miR-3145-3p	CLIP-seq
MIRT1933423	hsa-miR-3929	CLIP-seq
MIRT1933424	hsa-miR-4267	CLIP-seq
MIRT2173536	hsa-miR-4292	CLIP-seq
MIRT2173537	hsa-miR-4308	CLIP-seq
MIRT1933425	hsa-miR-4418	CLIP-seq
MIRT1933426	hsa-miR-4419b	CLIP-seq
MIRT2173538	hsa-miR-4446-5p	CLIP-seq
MIRT1933427	hsa-miR-4478	CLIP-seq
MIRT1933428	hsa-miR-450b-3p	CLIP-seq
MIRT1933429	hsa-miR-4683	CLIP-seq
MIRT1933430	hsa-miR-4713-3p	CLIP-seq
MIRT2173539	hsa-miR-4755-5p	CLIP-seq
MIRT1933432	hsa-miR-4781-3p	CLIP-seq
MIRT1933433	hsa-miR-509-3-5p	CLIP-seq
MIRT1933434	hsa-miR-509-5p	CLIP-seq
MIRT1933435	hsa-miR-620	CLIP-seq
MIRT1933436	hsa-miR-638	CLIP-seq
MIRT2173540	hsa-miR-670	CLIP-seq
MIRT1933437	hsa-miR-769-3p	CLIP-seq
MIRT2477085	hsa-miR-1	CLIP-seq
MIRT791303	hsa-miR-1271	CLIP-seq
MIRT791304	hsa-miR-182	CLIP-seq
MIRT2477086	hsa-miR-206	CLIP-seq
MIRT1933421	hsa-miR-3145-3p	CLIP-seq
MIRT791306	hsa-miR-3189-5p	CLIP-seq
MIRT2477087	hsa-miR-3197	CLIP-seq
MIRT1933422	hsa-miR-331-3p	CLIP-seq
MIRT2477088	hsa-miR-339-5p	CLIP-seq
MIRT1933423	hsa-miR-3929	CLIP-seq
MIRT2477089	hsa-miR-4265	CLIP-seq
MIRT2173536	hsa-miR-4292	CLIP-seq
MIRT2477090	hsa-miR-4296	CLIP-seq
MIRT2173537	hsa-miR-4308	CLIP-seq
MIRT2477091	hsa-miR-4322	CLIP-seq
MIRT2477092	hsa-miR-4323	CLIP-seq
MIRT2477093	hsa-miR-4417	CLIP-seq
MIRT1933425	hsa-miR-4418	CLIP-seq
MIRT1933426	hsa-miR-4419b	CLIP-seq
MIRT2173538	hsa-miR-4446-5p	CLIP-seq
MIRT1933427	hsa-miR-4478	CLIP-seq
MIRT1933428	hsa-miR-450b-3p	CLIP-seq
MIRT1933430	hsa-miR-4713-3p	CLIP-seq
MIRT1933431	hsa-miR-4749-3p	CLIP-seq
MIRT2173539	hsa-miR-4755-5p	CLIP-seq
MIRT791318	hsa-miR-4758-3p	CLIP-seq
MIRT2477094	hsa-miR-4768-3p	CLIP-seq
MIRT1933433	hsa-miR-509-3-5p	CLIP-seq
MIRT1933434	hsa-miR-509-5p	CLIP-seq
MIRT2477095	hsa-miR-545	CLIP-seq
MIRT2477096	hsa-miR-613	CLIP-seq
MIRT1933436	hsa-miR-638	CLIP-seq
MIRT2477097	hsa-miR-665	CLIP-seq
MIRT2173540	hsa-miR-670	CLIP-seq
MIRT1933437	hsa-miR-769-3p	CLIP-seq
MIRT791321	hsa-miR-96	CLIP-seq
MIRT2477085	hsa-miR-1	CLIP-seq
MIRT791303	hsa-miR-1271	CLIP-seq
MIRT791304	hsa-miR-182	CLIP-seq
MIRT2477086	hsa-miR-206	CLIP-seq
MIRT791306	hsa-miR-3189-5p	CLIP-seq
MIRT2477087	hsa-miR-3197	CLIP-seq
MIRT1933422	hsa-miR-331-3p	CLIP-seq
MIRT2477088	hsa-miR-339-5p	CLIP-seq
MIRT2477089	hsa-miR-4265	CLIP-seq
MIRT2477090	hsa-miR-4296	CLIP-seq
MIRT2477091	hsa-miR-4322	CLIP-seq
MIRT2477092	hsa-miR-4323	CLIP-seq
MIRT2477093	hsa-miR-4417	CLIP-seq
MIRT1933425	hsa-miR-4418	CLIP-seq
MIRT1933431	hsa-miR-4749-3p	CLIP-seq
MIRT791318	hsa-miR-4758-3p	CLIP-seq
MIRT2477094	hsa-miR-4768-3p	CLIP-seq
MIRT791320	hsa-miR-494	CLIP-seq
MIRT1933433	hsa-miR-509-3-5p	CLIP-seq
MIRT1933434	hsa-miR-509-5p	CLIP-seq
MIRT2477095	hsa-miR-545	CLIP-seq
MIRT2477096	hsa-miR-613	CLIP-seq
MIRT2477097	hsa-miR-665	CLIP-seq
MIRT2173540	hsa-miR-670	CLIP-seq
MIRT791321	hsa-miR-96	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002055	Function	Adenine binding	IBA
GO:0002055	Function	Adenine binding	IEA
GO:0003999	Function	Adenine phosphoribosyltransferase activity	IBA
GO:0003999	Function	Adenine phosphoribosyltransferase activity	IDA	15196008
GO:0003999	Function	Adenine phosphoribosyltransferase activity	IEA
GO:0003999	Function	Adenine phosphoribosyltransferase activity	TAS	3531209
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005576	Component	Extracellular region	TAS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	16130169
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006166	Process	Purine ribonucleoside salvage	IEA
GO:0006166	Process	Purine ribonucleoside salvage	IEA
GO:0006168	Process	Adenine salvage	IBA
GO:0006168	Process	Adenine salvage	IEA
GO:0007625	Process	Grooming behavior	IEA
GO:0016208	Function	AMP binding	IBA
GO:0016208	Function	AMP binding	IDA	15196008
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0032263	Process	GMP salvage	IEA
GO:0032264	Process	IMP salvage	IEA
GO:0034774	Component	Secretory granule lumen	TAS
GO:0044209	Process	AMP salvage	IBA
GO:0044209	Process	AMP salvage	IEA
GO:0046083	Process	Adenine metabolic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145
GO:1901363	Function	Heterocyclic compound binding	IEA

MIM	HGNC	e!Ensembl
102600	626	ENSG00000198931

P07741

Protein name

Adenine phosphoribosyltransferase (APRT) (EC 2.4.2.7)

Protein function

Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.

PDB

1ORE , 1ZN7 , 1ZN8 , 1ZN9 , 4X44 , 4X45 , 6FCH , 6FCI , 6FCL , 6FD4 , 6FD5 , 6FD6 , 6HGP , 6HGQ , 6HGR , 6HGS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00156	Pribosyltran	28 → 174	Phosphoribosyl transferase domain	Domain

Sequence

MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDY
IAGLDSRGFLFGPSLAQELGLGCVLIRKRGKLPGPTLWASYSLEYGKAELEIQKDALEPG
QRVVVVDDLLATGGTMNAACELLGRLQAEVLECVSLVELTSLKGREKLAPVPFFSLLQYE

Sequence length

180

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism Metabolic pathways Nucleotide metabolism		Neutrophil degranulation Purine salvage

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Adenine phosphoribosyltransferase deficiency	Likely pathogenic; Pathogenic	rs1244097151, rs918734933, rs121912681, rs281860263, rs28999113, rs104894506, rs104894507, rs281860265, rs104894508, rs2508234634, rs387906584, rs281860266, rs1909032484, rs758634272, rs1165408563 View all (42 more)	RCV001785957 RCV005624649 RCV000019956 RCV000033907 RCV000033908 View all (53 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
APRT deficiency, Japanese type	Pathogenic	rs28999113	RCV000019958	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
2,8-DIHYDROXYADENINE UROLITHIASIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APRT-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS, MPS-IV-A	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLITHIASIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (309)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
2,8-Dihydroxyadenine Urolithiasis	2,8-Dihydroxyadenine Urolithiasis	BEFREE	10479485, 11243733, 15196008, 15571218, 2227934, 2227951, 2418331, 3767554, 3876264, 8455250, 9521589		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
2,8-Dihydroxyadenine Urolithiasis	2,8-Dihydroxyadenine Urolithiasis	ORPHANET_DG	22700886		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
2,8-Dihydroxyadenine Urolithiasis	2,8-Dihydroxyadenine Urolithiasis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acrodysostosis	Acrodysostosis	BEFREE	23033274, 25064455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	21493871		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	23449452, 2834348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenine phosphoribosyltransferase deficiency	Adenine Phosphoribosyltransferase Deficiency	CLINVAR_DG	11243733, 1353080		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adenine phosphoribosyltransferase deficiency	Adenine Phosphoribosyltransferase Deficiency	UNIPROT_DG	11243733, 1353080, 15571218, 1746557, 21635362, 3343350, 3680503, 7915931		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adenine phosphoribosyltransferase deficiency	Adenine Phosphoribosyltransferase Deficiency	GENOMICS_ENGLAND_DG	1353080, 22212387, 27604308		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adenine phosphoribosyltransferase deficiency	Adenine Phosphoribosyltransferase Deficiency	BEFREE	15571218, 17126311, 20101413, 2227934, 22700886, 2418331, 3193517, 8455250, 9067427, 9255672		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adenine phosphoribosyltransferase deficiency	Adenine phosphoribosyltransferase deficiency	Pubtator	1609669, 1673292, 2502918, 33707627, 9255672	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adenine phosphoribosyltransferase deficiency	Adenine phosphoribosyltransferase deficiency	Pubtator	1746557	Inhibit	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adenine phosphoribosyltransferase deficiency	Adenine Phosphoribosyltransferase Deficiency	ORPHANET_DG	22700886		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adenine phosphoribosyltransferase deficiency	Adenine Phosphoribosyltransferase Deficiency	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adenine phosphoribosyltransferase deficiency	Adenine Phosphoribosyltransferase Deficiency	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adenocarcinoma	Adenocarcinoma	BEFREE	14716741, 30242113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	24568477		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21955603, 8232306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	14716741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	12641630, 24571724, 25069672		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	8692279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	24491542, 26849413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenomyeloneuropathy	Adrenomyeloneuropathy	BEFREE	24491542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	21493871		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	30959553		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	9777250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	11450946, 2544261, 2850959, 30664725, 8679308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	25311278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	26515689, 28302722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	23679925, 26152932		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27773749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	28179583		★★★★★ ★☆☆☆☆ Found in Text Mining only
APRT deficiency, Japanese type	APRT Deficiency	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arteriosclerosis	Arteriosclerosis	BEFREE	20124121, 21980456, 23863764, 28330873, 28445811, 29394501, 29675553		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	29158183, 31339170, 31684171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	10730545, 26518209, 28392320		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	34494468	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	15967875		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	20124121, 21980456, 23863764, 28330873, 28445811, 29394501, 29675553		★★★★★ ★☆☆☆☆ Found in Text Mining only
ATRICHIA WITH PAPULAR LESIONS	Atrichia With Papular Lesions	BEFREE	23449452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	BEFREE	11827995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	27936898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	18601949, 30311381		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28713934, 29916537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	21353331		★★★★★ ★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	3808228		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bile duct carcinoma	Bile duct carcinoma	BEFREE	31205529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	22387548, 24140250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	3192533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17062558, 19509226, 20077420, 20332211, 21116708, 22353783, 22833450, 23266469, 23349840, 23566437, 26143491, 27598996, 2836320, 29172540, 29600521, 9487987, 9815703 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	17659439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35351580	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	30203441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	22213537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	22387548, 24140250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15701835, 18089792, 30046347, 30741368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	12782567, 14519435, 29300372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	23997074	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	BEFREE	11371514		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	18855224, 28388507, 28647324, 30298955		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney Complex	BEFREE	12203783, 12424709, 12641630, 15992699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	23863764, 31015533		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	19407487, 26337566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	30974861		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	19407487, 26337566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	21493871		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	BEFREE	21353331		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	30959553		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	9777250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	31205529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	27602960		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	22272352, 2469421, 7527246, 8069860		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	15108329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	30919248		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	22212387, 23334384, 29241594, 30106368, 30355577, 30443743, 30718600, 30919248, 31015533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	GENOMICS_ENGLAND_DG	22212387		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	11527539, 14614459, 29246942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	15108329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15958573, 22943849, 28973823, 31611925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	19138981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Color Vision Defects	Color vision deficiency	Pubtator	37689994	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16044163, 2038324, 20808308, 28407688, 8887680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	8887680	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	29436644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	14681228		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	14499869, 16021915, 20103776, 21825219, 22844503, 28290983, 29284690, 29603541, 31415862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11830554, 29115429, 29448247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	15108329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28590260, 30974198, 31160548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	25069672		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	25022529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	14701827, 16361706, 24859760, 27241308, 7533608, 7681548, 9287144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystinosis	Cystinosis	BEFREE	22982317		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28492224, 29413962, 29929979, 29961054		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	17700644, 19917299, 21924326, 23531112, 2414305		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	23531112, 30914305, 31255680		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis	Dermatitis	BEFREE	25772484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Irritant	Dermatitis	BEFREE	25772484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	18369362, 19528375, 19652946, 23056165, 23602926, 24755741, 25693659, 29072367, 29603541, 29623826, 30334324, 30785783, 30837873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	18369362, 19528375, 19652946, 23056165, 23602926, 24755741, 25693659, 29072367, 29603541, 29623826, 29658605, 30334324, 30646747, 30785783, 30837873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	2805359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	15718261, 18434188, 19072830, 19652946, 22766107, 23086037, 26411681, 27427333, 28170077, 28322508, 28647324, 29480465, 29696964, 30230919, 30545741, 30989716, 31836952 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	30646747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28322508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	31366566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disruptive, Impulse Control, and Conduct Disorders	Impulse control disorder	BEFREE	25772484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endocarditis	Endocarditis	BEFREE	30617242		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	27636742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	31455240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	29042084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial generalized lipodystrophy	Lipodystrophy	BEFREE	11640991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	19095761, 23056165, 29343420, 31256424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver, Alcoholic	Alcoholic Fatty Liver	BEFREE	28299850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrodysplasia Ossificans Progressiva	Fibrodysplasia Ossificans Progressiva	BEFREE	28847510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrolamellar Hepatocellular Carcinoma	Hepatocellular Carcinoma	BEFREE	31489118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	9894155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28336942, 30093459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	17895972, 8380312, 8552427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	BEFREE	3808228		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fulminant hepatitis	Fulminant Hepatitis	BEFREE	29348606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	25046749		★★★★★ ★☆☆☆☆ Found in Text Mining only
GALNS Deficiency	GALNS Deficiency	BEFREE	10479485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	BEFREE	6408305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	27916026, 28290983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	16518831, 29267253, 29915361, 30089841, 30190576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35757013	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	16518831, 29267253, 29915361, 30089841, 30190576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	16893424, 25381154, 27121290, 9636212		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gliosarcoma	Gliosarcoma	Pubtator	35757013	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	BEFREE	11827995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	6408305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IIb	Glycogen Storage Disease	BEFREE	14711353, 17597581, 20005292, 20600102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type V	Glycogen Storage Disease	BEFREE	6408305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type VII	Glycogen Storage Disease	BEFREE	6408305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen storage disease, type IX	Glycogen Storage Disease	BEFREE	15877279, 17667862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gout, HPRT-Related	Gout	BEFREE	9824441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	27848228		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	24857548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	14499869, 16021915, 21825219, 22844503, 28290983, 29284690, 29603541, 31415862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	BEFREE	30725392		★★★★★ ★☆☆☆☆ Found in Text Mining only
HMN (Hereditary Motor Neuropathy) Proximal Type I	Hereditary Motor Neuropathy	BEFREE	3808228		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	20529956, 22627493		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	31613687		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	22068600, 26198388, 26644014, 30175788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	26176762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	25004093, 25693659, 28235712, 30221679, 31144065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	3450451		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	23288166, 24566685, 27620389, 29025027, 29895790, 31144065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	11740432, 11827995, 12015473, 12716108, 15673802, 17667862, 23997074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	11827995, 12716108, 15673802, 17667862, 23997074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	31079923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	31284513, 9721728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic hypercalciuria	Hypercalciuria	BEFREE	6087533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	27208163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	20090753, 29084898, 29677000, 30735676		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	25772484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	22212387, 29241594, 30106368, 30355577, 30443743, 31378568, 8643571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	29895790		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	17126311, 20150536, 21635362, 2227934, 2227951, 3817810, 8643571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30616891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	GENOMICS_ENGLAND_DG	22212387		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	30919248		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	21907923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	15673802, 29480501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lesch-Nyhan Syndrome	Lesch-Nyhan Syndrome	BEFREE	25612837, 28782500, 7398108		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	16196046, 20339906, 2172158, 29084986, 29133595, 8692279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	19258499, 27180173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	31336728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipoatrophic Diabetes Mellitus	Lipoatrophic Diabetes Mellitus	BEFREE	11640991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15849811, 18493842, 25656579, 25683251, 25743752, 26160430, 26534958, 28894087, 29050265, 29408091, 30268048, 30926950, 30959553, 31083406, 31775395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	31368578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	21835143, 25743752, 30268048, 30926950		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	26601115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	23396962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	23396962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	11099740		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	11099740		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	24857548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17062558, 19509226, 20077420, 20332211, 21116708, 22353783, 22833450, 23266469, 23349840, 23566437, 26143491, 27598996, 2836320, 29172540, 29600521, 9815703 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	17659439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	27636742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	25046749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30959553		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15701835, 18089792, 30046347, 30297175, 30741368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	31336728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30997723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	14716741, 15929083, 16912182, 18030357, 19372545, 19372581, 21098087, 21540236, 26198640, 30644036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22955258, 28662499, 29693274		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	30069928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	22387548, 24140250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	1293155, 14716741, 16027733, 16176927, 16530014, 17062558, 18199555, 19138981, 19243571, 19442050, 21245141, 22897928, 24240687, 24842158, 25126561 View all (19 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	19407487, 26337566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	15958573, 22943849, 28973823, 31611925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	17659439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	17659439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19509226, 8940410		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	17659439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	16778103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	28170077		★★★★★ ★☆☆☆☆ Found in Text Mining only
McCune-Albright Syndrome	McCune-Albright Syndrome	BEFREE	20887824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	3011805		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	9777250		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	20551063, 29179997, 30056111		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	17700644, 19917299, 21924326, 23531112, 2414305		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	23531112, 30914305, 31255680		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	BEFREE	12796375, 15950811, 24940987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	17997341, 22700886, 26001218, 29673898, 30311390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic myopathy	Metabolic Myopathy	BEFREE	9211191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28758412, 28844079, 29079190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	28851815		★★★★★ ★☆☆☆☆ Found in Text Mining only
Methemoglobinemia	Methemoglobinemia	BEFREE	14609324		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	16394501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	22025212		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	17332500, 23536703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	22262909		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis, MPS-IV-A	Mucopolysaccharidosis	BEFREE	10479485		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	BEFREE	20674745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	30869828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	19687334, 36433728, 39234657	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	30221054		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29331024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscle AMP deaminase deficiency	Muscle AMP Deaminase Deficiency	BEFREE	9211191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	6269633		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	29684379, 3808228		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	25710358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Diseases, Secondary	Myocardial Diseases	BEFREE	23997074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28259938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	16021915, 24431031, 28590260, 30974198, 31160548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30557400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12203783, 15950811, 16027733, 16530014, 16778103, 17307971, 1829805, 18387000, 18559625, 18774945, 19063937, 19347029, 20808308, 21460252, 24515110 View all (19 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephritis, Interstitial	Nephritis	GENOMICS_ENGLAND_DG	22212387		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	30820023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	22212387, 29241594, 30106368, 30355577, 30443743, 31378568, 8643571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10374721, 1359396, 1657899, 19013457, 2416313, 7616207, 7926867, 8287229, 9802424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	30869828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	17875698, 20551058, 25381154, 25788518, 31443423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	3808228		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	29122628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nodular glomerulosclerosis	Glomerulosclerosis	BEFREE	23316933		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	18360697, 28647324, 30165848, 30366981, 31505325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18676828, 22988252, 28915708, 29191605, 30046347		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	11894744, 16224049, 17438370, 19095761, 19509226, 19652946, 26035386, 28647324, 29923153, 30221679, 30414190, 30599906, 31836952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	30537139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Nerve Glioma	Optic Nerve Glioma	BEFREE	17875698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteitis Fibrosa Disseminata	Fibrous dysplasia	BEFREE	20887824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	10209067, 16109742, 24005536		★★★★★ ★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	19138981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30997723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	27773749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	15108329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	29455338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	23055502, 24269733, 30411223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	28861078		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	BEFREE	24037887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	8692279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	8645191		★★★★★ ★☆☆☆☆ Found in Text Mining only
POLYCYSTIC KIDNEY DISEASE 1	Polycystic kidney disease	BEFREE	27165822		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	29042084, 7916076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	11245774, 27165822, 28194573		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	19574280, 31722718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	30347867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	21968881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Preexcitation Syndrome	Wolff-Parkinson-White Syndrome	BEFREE	12782567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Hyperoxaluria	Hyperoxaluria	BEFREE	23334384		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary pigmented nodular adrenocortical disease	Pigmented Nodular Adrenocortical Disease	BEFREE	12424709, 15591278		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	28192606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	1373503, 14716741, 15640157, 15929083, 16678800, 16912182, 18030357, 19372545, 19372581, 21098087, 21540236, 26198640, 30644036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	14716741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism	Pseudohypoparathyroidism	BEFREE	8185370, 8453149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism	BEFREE	8072545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudopseudohypoparathyroidism	Pseudopseudohypoparathyroidism	BEFREE	8185370, 8453149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	BEFREE	24969777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	7615649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	27208163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30984775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Purine-Pyrimidine Metabolism, Inborn Errors	Inborn disorder of purine or pyrimidine metabolism	BEFREE	7061917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyelonephritis	Pyelonephritis	BEFREE	29872326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11830554, 29115429, 29448247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	15108329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	28739141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	3817810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	10496148, 8216732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30100905, 31684171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	15108329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21187413, 21490598, 2170638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	28258165, 31351862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	26252187, 29109024, 29170136, 30617242, 31002870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sinus Node Dysfunction (disorder)	Sinus Node Dysfunction	BEFREE	12782567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23929392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	21480386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	19095761, 23056165, 28933629, 29343420, 29525610, 31256424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22955258, 28662499, 29693274		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	29589999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	18799615, 30069928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	12203783, 30069928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26088362, 26236947, 30791936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	26935540, 28684424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Type II Mucolipidosis	Mucolipidosis	BEFREE	25772484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	11099740		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	11099740		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urolithiasis	Urolithiasis	BEFREE	21635362, 3817810, 3876264		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urolithiasis	Urolithiasis	CTD_human_DG	3876264, 7766		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular hypertrophy	Ventricular hypertrophy	BEFREE	12782567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular preexcitation	Ventricular preexcitation	BEFREE	11827995, 12397075, 12782567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	11340356		★★★★★ ★☆☆☆☆ Found in Text Mining only
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Syndrome	BEFREE	11371514, 11827995, 12397075, 12782567, 15611370, 16339829, 16386658, 16686673, 23992123		★★★★★ ★☆☆☆☆ Found in Text Mining only

APRT (adenine phosphoribosyltransferase)