ATG5 (autophagy related 5)

Gene

• Entrez ID: 9474
• Gene name: Autophagy related 5
• Gene symbol: ATG5
• Synonyms (NCBI Gene): APG5, APG5-LIKE, APG5L, ASP, SCAR25, hAPG5
• Chromosome: 6
• Chromosome location: 6q21
• Summary: The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle forma

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1131692265	T>A	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT053197	hsa-miR-181a-5p	Immunoblot, Luciferase reporter assay, qRT-PCR	23322078
MIRT438870	hsa-miR-30d-5p	Luciferase reporter assay	23274497
MIRT438870	hsa-miR-30d-5p	Luciferase reporter assay	23274497
MIRT441163	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT441163	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT728272	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT728271	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT731146	hsa-miR-9-5p	Luciferase reporter assay	25487826
MIRT731146	hsa-miR-9-5p	Luciferase reporter assay	25487826
MIRT731906	hsa-miR-299-5p	Luciferase reporter assay	27080144
MIRT731906	hsa-miR-299-5p	Luciferase reporter assay	27080144
MIRT053197	hsa-miR-181a-5p	qRT-PCR, Western blot	26589846
MIRT053197	hsa-miR-181a-5p	qRT-PCR, Western blot	26589846
MIRT732275	hsa-miR-224-3p	dual-luciferase reporter assay, Western blot, Immunohistochemistry	26536662
MIRT732275	hsa-miR-224-3p	dual-luciferase reporter assay, Western blot, Immunohistochemistry	26536662
MIRT734146	hsa-miR-30e-5p	Luciferase reporter assay, qRT-PCR, Western blot	27372603
MIRT734146	hsa-miR-30e-5p	Luciferase reporter assay, qRT-PCR, Western blot	27372603
MIRT734146	hsa-miR-30e-5p	Luciferase reporter assay, Immunoprecipitaion (IP), ELISA	32688283
MIRT736980	hsa-miR-30a-5p	Luciferase reporter assay, Western blotting, Microarray, Immunofluorescence, qRT-PCR	34253689
MIRT736980	hsa-miR-30a-5p	Western blotting, Microarray, Immunohistochemistry (IHC), qRT-PCR	34203465
MIRT053197	hsa-miR-181a-5p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunocytochemistry (ICC)	35029026
MIRT805552	hsa-miR-103a	CLIP-seq
MIRT805553	hsa-miR-106a	CLIP-seq
MIRT805554	hsa-miR-106b	CLIP-seq
MIRT805555	hsa-miR-107	CLIP-seq
MIRT805556	hsa-miR-1206	CLIP-seq
MIRT805557	hsa-miR-1208	CLIP-seq
MIRT805558	hsa-miR-1252	CLIP-seq
MIRT805559	hsa-miR-1303	CLIP-seq
MIRT805560	hsa-miR-142-5p	CLIP-seq
MIRT805561	hsa-miR-153	CLIP-seq
MIRT805562	hsa-miR-17	CLIP-seq
MIRT805563	hsa-miR-186	CLIP-seq
MIRT805564	hsa-miR-20a	CLIP-seq
MIRT805565	hsa-miR-20b	CLIP-seq
MIRT805566	hsa-miR-3124-3p	CLIP-seq
MIRT805567	hsa-miR-3133	CLIP-seq
MIRT805568	hsa-miR-3188	CLIP-seq
MIRT805569	hsa-miR-3202	CLIP-seq
MIRT805570	hsa-miR-3609	CLIP-seq
MIRT805571	hsa-miR-3944-5p	CLIP-seq
MIRT805572	hsa-miR-3973	CLIP-seq
MIRT805573	hsa-miR-4453	CLIP-seq
MIRT805574	hsa-miR-448	CLIP-seq
MIRT805575	hsa-miR-4506	CLIP-seq
MIRT805576	hsa-miR-4528	CLIP-seq
MIRT805577	hsa-miR-4533	CLIP-seq
MIRT805578	hsa-miR-4538	CLIP-seq
MIRT805579	hsa-miR-4796-3p	CLIP-seq
MIRT805580	hsa-miR-519a	CLIP-seq
MIRT805581	hsa-miR-519b-3p	CLIP-seq
MIRT805582	hsa-miR-519c-3p	CLIP-seq
MIRT805583	hsa-miR-519d	CLIP-seq
MIRT805584	hsa-miR-520g	CLIP-seq
MIRT805585	hsa-miR-520h	CLIP-seq
MIRT805586	hsa-miR-545	CLIP-seq
MIRT805587	hsa-miR-548ah	CLIP-seq
MIRT805588	hsa-miR-548c-3p	CLIP-seq
MIRT805589	hsa-miR-629	CLIP-seq
MIRT805590	hsa-miR-877	CLIP-seq
MIRT805591	hsa-miR-93	CLIP-seq
MIRT805556	hsa-miR-1206	CLIP-seq
MIRT805557	hsa-miR-1208	CLIP-seq
MIRT1937884	hsa-miR-140-3p	CLIP-seq
MIRT1937885	hsa-miR-2467-3p	CLIP-seq
MIRT1937886	hsa-miR-34a	CLIP-seq
MIRT1937887	hsa-miR-34c-5p	CLIP-seq
MIRT805572	hsa-miR-3973	CLIP-seq
MIRT1937888	hsa-miR-4257	CLIP-seq
MIRT1937889	hsa-miR-449a	CLIP-seq
MIRT1937890	hsa-miR-449b	CLIP-seq
MIRT805576	hsa-miR-4528	CLIP-seq
MIRT805584	hsa-miR-520g	CLIP-seq
MIRT805585	hsa-miR-520h	CLIP-seq
MIRT1937891	hsa-miR-765	CLIP-seq
MIRT805556	hsa-miR-1206	CLIP-seq
MIRT805557	hsa-miR-1208	CLIP-seq
MIRT2177405	hsa-miR-1231	CLIP-seq
MIRT2177406	hsa-miR-1264	CLIP-seq
MIRT2177407	hsa-miR-149	CLIP-seq
MIRT805561	hsa-miR-153	CLIP-seq
MIRT2177408	hsa-miR-19a	CLIP-seq
MIRT2177409	hsa-miR-19b	CLIP-seq
MIRT2177410	hsa-miR-3064-5p	CLIP-seq
MIRT2177411	hsa-miR-3545-5p	CLIP-seq
MIRT805572	hsa-miR-3973	CLIP-seq
MIRT2177412	hsa-miR-4276	CLIP-seq
MIRT805574	hsa-miR-448	CLIP-seq
MIRT2177413	hsa-miR-4496	CLIP-seq
MIRT805576	hsa-miR-4528	CLIP-seq
MIRT2177414	hsa-miR-4794	CLIP-seq
MIRT805584	hsa-miR-520g	CLIP-seq
MIRT805585	hsa-miR-520h	CLIP-seq
MIRT2177415	hsa-miR-581	CLIP-seq
MIRT2444172	hsa-miR-651	CLIP-seq
MIRT805552	hsa-miR-103a	CLIP-seq
MIRT2480820	hsa-miR-105	CLIP-seq
MIRT805555	hsa-miR-107	CLIP-seq
MIRT2480821	hsa-miR-1183	CLIP-seq
MIRT2177405	hsa-miR-1231	CLIP-seq
MIRT2480822	hsa-miR-127-5p	CLIP-seq
MIRT2480823	hsa-miR-1295	CLIP-seq
MIRT2480824	hsa-miR-1301	CLIP-seq
MIRT1937884	hsa-miR-140-3p	CLIP-seq
MIRT2177407	hsa-miR-149	CLIP-seq
MIRT2480825	hsa-miR-181a	CLIP-seq
MIRT2480826	hsa-miR-181b	CLIP-seq
MIRT2480827	hsa-miR-181c	CLIP-seq
MIRT2480828	hsa-miR-181d	CLIP-seq
MIRT2177410	hsa-miR-3064-5p	CLIP-seq
MIRT2480829	hsa-miR-3074-5p	CLIP-seq
MIRT2480830	hsa-miR-3117-5p	CLIP-seq
MIRT2480831	hsa-miR-3119	CLIP-seq
MIRT2480832	hsa-miR-3120-5p	CLIP-seq
MIRT2480833	hsa-miR-3152-5p	CLIP-seq
MIRT2480834	hsa-miR-3157-3p	CLIP-seq
MIRT2480835	hsa-miR-3163	CLIP-seq
MIRT2480836	hsa-miR-3194-3p	CLIP-seq
MIRT2480837	hsa-miR-3591-5p	CLIP-seq
MIRT2480838	hsa-miR-3663-5p	CLIP-seq
MIRT2480839	hsa-miR-3664-5p	CLIP-seq
MIRT2480840	hsa-miR-3926	CLIP-seq
MIRT2480841	hsa-miR-4255	CLIP-seq
MIRT2480842	hsa-miR-4262	CLIP-seq
MIRT2480843	hsa-miR-4269	CLIP-seq
MIRT2480844	hsa-miR-4288	CLIP-seq
MIRT2480845	hsa-miR-4327	CLIP-seq
MIRT2480846	hsa-miR-4421	CLIP-seq
MIRT2480847	hsa-miR-4423-5p	CLIP-seq
MIRT2480848	hsa-miR-4477b	CLIP-seq
MIRT805575	hsa-miR-4506	CLIP-seq
MIRT2480849	hsa-miR-4514	CLIP-seq
MIRT2480850	hsa-miR-4652-3p	CLIP-seq
MIRT2480851	hsa-miR-4659a-3p	CLIP-seq
MIRT2480852	hsa-miR-4659b-3p	CLIP-seq
MIRT2480853	hsa-miR-4692	CLIP-seq
MIRT2480854	hsa-miR-4714-5p	CLIP-seq
MIRT2480855	hsa-miR-4717-5p	CLIP-seq
MIRT2480856	hsa-miR-4742-3p	CLIP-seq
MIRT2480857	hsa-miR-4742-5p	CLIP-seq
MIRT2480858	hsa-miR-4762-3p	CLIP-seq
MIRT2480859	hsa-miR-4778-3p	CLIP-seq
MIRT2480860	hsa-miR-4778-5p	CLIP-seq
MIRT2177414	hsa-miR-4794	CLIP-seq
MIRT2480861	hsa-miR-4802-3p	CLIP-seq
MIRT2480862	hsa-miR-500a	CLIP-seq
MIRT2480863	hsa-miR-501-5p	CLIP-seq
MIRT2480864	hsa-miR-503	CLIP-seq
MIRT2480865	hsa-miR-5047	CLIP-seq
MIRT2480866	hsa-miR-505	CLIP-seq
MIRT2480867	hsa-miR-543	CLIP-seq
MIRT2480868	hsa-miR-548a-3p	CLIP-seq
MIRT2480869	hsa-miR-548e	CLIP-seq
MIRT2480870	hsa-miR-548f	CLIP-seq
MIRT2480871	hsa-miR-548p	CLIP-seq
MIRT2480872	hsa-miR-568	CLIP-seq
MIRT2480873	hsa-miR-605	CLIP-seq
MIRT2480874	hsa-miR-606	CLIP-seq
MIRT2480875	hsa-miR-632	CLIP-seq
MIRT2480876	hsa-miR-670	CLIP-seq
MIRT2480877	hsa-miR-888	CLIP-seq
MIRT2480878	hsa-miR-892b	CLIP-seq
MIRT805552	hsa-miR-103a	CLIP-seq
MIRT2480820	hsa-miR-105	CLIP-seq
MIRT805555	hsa-miR-107	CLIP-seq
MIRT2480821	hsa-miR-1183	CLIP-seq
MIRT2177405	hsa-miR-1231	CLIP-seq
MIRT2480822	hsa-miR-127-5p	CLIP-seq
MIRT2480824	hsa-miR-1301	CLIP-seq
MIRT2177407	hsa-miR-149	CLIP-seq
MIRT2177410	hsa-miR-3064-5p	CLIP-seq
MIRT2480829	hsa-miR-3074-5p	CLIP-seq
MIRT2480832	hsa-miR-3120-5p	CLIP-seq
MIRT2480833	hsa-miR-3152-5p	CLIP-seq
MIRT2480836	hsa-miR-3194-3p	CLIP-seq
MIRT2480838	hsa-miR-3663-5p	CLIP-seq
MIRT2480843	hsa-miR-4269	CLIP-seq
MIRT2480845	hsa-miR-4327	CLIP-seq
MIRT2480846	hsa-miR-4421	CLIP-seq
MIRT2480847	hsa-miR-4423-5p	CLIP-seq
MIRT2480848	hsa-miR-4477b	CLIP-seq
MIRT805575	hsa-miR-4506	CLIP-seq
MIRT2480849	hsa-miR-4514	CLIP-seq
MIRT2480850	hsa-miR-4652-3p	CLIP-seq
MIRT2480851	hsa-miR-4659a-3p	CLIP-seq
MIRT2480852	hsa-miR-4659b-3p	CLIP-seq
MIRT2480853	hsa-miR-4692	CLIP-seq
MIRT2480857	hsa-miR-4742-5p	CLIP-seq
MIRT2480860	hsa-miR-4778-5p	CLIP-seq
MIRT2177414	hsa-miR-4794	CLIP-seq
MIRT2480861	hsa-miR-4802-3p	CLIP-seq
MIRT2480864	hsa-miR-503	CLIP-seq
MIRT2480865	hsa-miR-5047	CLIP-seq
MIRT2480871	hsa-miR-548p	CLIP-seq
MIRT2480873	hsa-miR-605	CLIP-seq
MIRT2480877	hsa-miR-888	CLIP-seq
MIRT2480878	hsa-miR-892b	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ATF4	Activation	20038797
DDIT3	Activation	20038797
E2F1	Activation	18408756

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IBA
GO:0000045	Process	Autophagosome assembly	IDA	23202584
GO:0000045	Process	Autophagosome assembly	IEA
GO:0000045	Process	Autophagosome assembly	ISO
GO:0000045	Process	Autophagosome assembly	ISS
GO:0000423	Process	Mitophagy	IBA
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002718	Process	Regulation of cytokine production involved in immune response	IEA
GO:0005515	Function	Protein binding	IPI	9852036, 11096062, 17709747, 20417604, 20562859, 21575909, 22342342, 23202584, 23262492, 23392225, 24191030, 26812546, 31515488, 32296183, 32814053, 32960676, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005776	Component	Autophagosome	IBA
GO:0005776	Component	Autophagosome	IDA	15292400
GO:0005776	Component	Autophagosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005930	Component	Axoneme	IEA
GO:0005930	Component	Axoneme	ISS
GO:0006325	Process	Chromatin organization	IEA
GO:0006914	Process	Autophagy	IEA
GO:0006914	Process	Autophagy	IGI	28389568
GO:0006914	Process	Autophagy	IMP	26812546
GO:0006914	Process	Autophagy	ISS
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006995	Process	Cellular response to nitrogen starvation	IBA
GO:0009267	Process	Cellular response to starvation	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009620	Process	Response to fungus	IEA
GO:0010040	Process	Response to iron(II) ion	IEA
GO:0010508	Process	Positive regulation of autophagy	IEA
GO:0010659	Process	Cardiac muscle cell apoptotic process	IEA
GO:0010667	Process	Negative regulation of cardiac muscle cell apoptotic process	IEA
GO:0016020	Component	Membrane	IDA	23093945
GO:0016020	Component	Membrane	IEA
GO:0016236	Process	Macroautophagy	IEA
GO:0016236	Process	Macroautophagy	IMP	25484072
GO:0016236	Process	Macroautophagy	ISO
GO:0016567	Process	Protein ubiquitination	IEA
GO:0019776	Function	Atg8-family ligase activity	IDA	23202584
GO:0019883	Process	Antigen processing and presentation of endogenous antigen	IEA
GO:0030424	Component	Axon	IEA
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0031397	Process	Negative regulation of protein ubiquitination	IEA
GO:0032480	Process	Negative regulation of type I interferon production	IEA
GO:0032480	Process	Negative regulation of type I interferon production	ISO
GO:0032991	Component	Protein-containing complex	IEA
GO:0032991	Component	Protein-containing complex	NAS	25484072
GO:0034045	Component	Phagophore assembly site membrane	IBA
GO:0034045	Component	Phagophore assembly site membrane	IDA	32960676
GO:0034045	Component	Phagophore assembly site membrane	IEA
GO:0034045	Component	Phagophore assembly site membrane	ISO
GO:0034045	Component	Phagophore assembly site membrane	ISS
GO:0034274	Component	Atg12-Atg5-Atg16 complex	IBA
GO:0034274	Component	Atg12-Atg5-Atg16 complex	IEA
GO:0034274	Component	Atg12-Atg5-Atg16 complex	IPI	23202584
GO:0034727	Process	Piecemeal microautophagy of the nucleus	IBA
GO:0035973	Process	Aggrephagy	IBA
GO:0035973	Process	Aggrephagy	IEA
GO:0035973	Process	Aggrephagy	IMP	22982048
GO:0039689	Process	Negative stranded viral RNA replication	IEA
GO:0042311	Process	Vasodilation	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043069	Process	Negative regulation of programmed cell death	IEA
GO:0043687	Process	Post-translational protein modification	IEA
GO:0043687	Process	Post-translational protein modification	ISS
GO:0044233	Component	Mitochondria-associated endoplasmic reticulum membrane contact site	IEA
GO:0045060	Process	Negative thymic T cell selection	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045202	Component	Synapse	IEA
GO:0045824	Process	Negative regulation of innate immune response	IEA
GO:0045824	Process	Negative regulation of innate immune response	ISO
GO:0048840	Process	Otolith development	IEA
GO:0050687	Process	Negative regulation of defense response to virus	IDA	19666601
GO:0050687	Process	Negative regulation of defense response to virus	IEA
GO:0050765	Process	Negative regulation of phagocytosis	IEA
GO:0051279	Process	Regulation of release of sequestered calcium ion into cytosol	IEA
GO:0051607	Process	Defense response to virus	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0055015	Process	Ventricular cardiac muscle cell development	IEA
GO:0060047	Process	Heart contraction	IEA
GO:0061684	Process	Chaperone-mediated autophagy	IEA
GO:0061908	Component	Phagophore	IBA
GO:0062029	Process	Positive regulation of stress granule assembly	IEA
GO:0070254	Process	Mucus secretion	IEA
GO:0070257	Process	Positive regulation of mucus secretion	IEA
GO:0071500	Process	Cellular response to nitrosative stress	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098930	Process	Axonal transport	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099072	Process	Regulation of postsynaptic membrane neurotransmitter receptor levels	IEA
GO:0099170	Process	Postsynaptic modulation of chemical synaptic transmission	IEA
GO:1901096	Process	Regulation of autophagosome maturation	IMP	22342342
GO:1902017	Process	Regulation of cilium assembly	IEA
GO:1902017	Process	Regulation of cilium assembly	ISS
GO:1902617	Process	Response to fluoride	IEA
GO:1904093	Process	Negative regulation of autophagic cell death	IMP	19273585
GO:1904973	Process	Positive regulation of viral translation	IDA	19666601
GO:1990234	Component	Transferase complex	IEA
GO:1990234	Component	Transferase complex	ISO
GO:2000377	Process	Regulation of reactive oxygen species metabolic process	IEA

Other IDs

• MIM: 604261
• HGNC: 589
• e!Ensembl: ENSG00000057663

Protein

• UniProt ID: Q9H1Y0
• Protein name: Autophagy protein 5 (APG5-like) (Apoptosis-specific protein)
• Protein function: Involved in autophagic vesicle formation. Conjugation with ATG12, through a ubiquitin-like conjugating system involving ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG
• PDB: 4GDK, 4GDL, 4NAW, 4TQ0, 4TQ1, 5D7G, 5NPV, 5NPW, 7W36
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04106	APG5	79 → 270	Autophagy protein Apg5	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. The mRNA is present at similar levels in viable and apoptotic cells, whereas the protein is dramatically highly expressed in apoptotic cells.
• Sequence:

  MTDDKDVLRDVWFGRIPTCFTLYQDEITEREAEPYYLLLPRVSYLTLVTDKVKKHFQKVM
  RQEDISEIWFEYEGTPLKWHYPIGLLFDLLASSSALPWNITVHFKSFPEKDLLHCPSKDA
  IEAHFMSCMKEADALKHKSQVINEMQKKDHKQLWMGLQNDRFDQFWAINRKLMEYPAEEN
  GFRYIPFRIYQTTTERPFIQKLFRPVAADGQLHTLGDLLKEVCPSAIDPEDGEKKNQVMI
  HGIEPMLETPLQWLSEHLSYPDNFLHISIIPQPTD

• Sequence length: 275

Pathways

KEGG:

Autophagy - other
Autophagy - animal
Longevity regulating pathway
Longevity regulating pathway - multiple species
Ferroptosis
NOD-like receptor signaling pathway
RIG-I-like receptor signaling pathway
Shigellosis

Reactome:

Macroautophagy
Pink/Parkin Mediated Mitophagy
Receptor Mediated Mitophagy

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATG5-related disorder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMITED SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NECROSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SJOGREN SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia, autosomal recessive 25	no classifications from unflagged records	ClinVar ClinGen, ClinVar, Disgenet, GWAS catalog, HPO ClinGen, ClinVar, Disgenet, GWAS catalog, HPO ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TERATOZOOSPERMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	26773440		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	12518376, 26457809, 28060110, 28440015, 29165013, 29217160		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	28978663, 30806286		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	23389729		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	16320248		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29433677		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	BEFREE	27816963		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	25482163		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	25695667		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12518376, 28060110, 28440015, 29165013		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29039784	Stimulate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	12684256, 15033338, 15885796, 20132478, 30654731		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	CTD_human_DG	26568842		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	23740229, 29735171		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30296435		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	29770139, 30943775		★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic Diseases	BEFREE	30943775		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28888077		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	21068098, 28255205	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	29735171		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	22498476, 22536318, 26335713, 26701229, 28424691, 31748850		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	22536318, 26701229	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	30929738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	BEFREE	30569180		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28888077		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	39741278	Associate	★☆☆☆☆ Found in Text Mining only
ATRICHIA WITH PAPULAR LESIONS	Atrichia With Papular Lesions	BEFREE	28978663		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASDB_DG	21383967		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	26039132		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	26039132	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30923033		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	26747760, 30907204		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	31574376		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28684853, 29774126, 30336339		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23026799, 38263419	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24300435, 32186433	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	21664058, 21995634		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23317196, 26481188, 34409736, 36157211, 37474520	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27729742	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	31574376		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	31050705		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28112178		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31959887, 33145996	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	11215278	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28408137, 29219657		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Familial Hypertrophic 1	Cardiomyopathy	Pubtator	27432584	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	34872443	Associate	★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	BEFREE	30786942		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	29326554		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10910927, 12518376, 19741605, 28060110, 28440015, 29165013		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	22536318		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASCAT_DG	30929738		★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	31615473		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30472709		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	29346066		★☆☆☆☆ Found in Text Mining only
Chronic Q Fever	Q Fever	BEFREE	30616015		★☆☆☆☆ Found in Text Mining only
COENZYME Q10 DEFICIENCY	Coenzyme Q10 Deficiency	BEFREE	19115482		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34661876	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31703091		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30402022		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22993366, 23948443, 24331409, 25695667, 27557491, 30883936, 31181480, 31383875, 31502570		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26163626, 28651493, 31502570, 34894411, 36333388	Associate	★☆☆☆☆ Found in Text Mining only
Congenital meningocele	Congenital Meningocele	BEFREE	8740138		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	31836534		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	32132293	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	24782052		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	23740229, 27096233		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	23740229	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	24027027		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	28007903		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	25202993, 28255205		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	30894637		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	25448265		★☆☆☆☆ Found in Text Mining only
Dermoid Cyst	Dermoid Cyst	BEFREE	8740138		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30378116		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29654511		★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	29416002		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	29222450		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex Superficialis	Epidermolysis Bullosa	BEFREE	28450279		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	32831056	Associate	★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	BEFREE	27960588		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	26999124	Associate	★☆☆☆☆ Found in Text Mining only
Fibrodysplasia Ossificans Progressiva	Fibrodysplasia Ossificans Progressiva	BEFREE	22011642, 22130450		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28011320		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	23196876	Associate	★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	25203537	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	35518570	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27278737, 29538296, 29902340, 30569180, 30909789		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	29538296, 32186433, 35123435	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27278737, 29538296, 29902340, 30569180, 30909789		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27163161	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	26812546		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	35518570	Associate	★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	35518570	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	35518570	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	24205307	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	24269628		★☆☆☆☆ Found in Text Mining only
Hepatitis Alcoholic	Alcoholic hepatitis	Pubtator	27432584	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	25265476	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	21972944	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	26644014		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	30209975		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	18059169, 24818601, 25115400, 32186433, 35638109, 36805797	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	31336911		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	GWASDB_DG	21383967		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	24037090		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia	BEFREE	30654731		★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	30378116		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	30742638	Stimulate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	25695667		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	27607576, 27885727, 9490695		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27732946, 29743969, 35128828	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	32707918	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	27607576, 28703806		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21664058, 28930552, 28974556, 29061507, 30389439, 30602494, 30621754, 30907204, 31216956, 31340167, 31729038		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	25265476	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Diseases	Liver disease	Pubtator	25265476	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	26722507	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	31095752		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	29545906		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	25151985		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	24205307, 26509176	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	26039132	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	25151985		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	18204446, 19838193		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	19838193, 19838195, 23740937, 26502338, 27193031, 27399966, 28714469, 30573655		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21622776, 24205307, 25151985, 26039132, 26420661, 26509176, 27673477, 29759048, 30907204		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	26039132, 26509176, 29446059		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	26039132, 26509176	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	25151985		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	29217160		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	CTD_human_DG	26568842		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	33172148	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	25448265		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	19375507		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	31570005		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28684853, 30336339		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	21664058		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	31050705		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28112178		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28408137, 29219657		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	28408137		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30389604		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21995634, 23075929, 31570703		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25329677, 29635244, 30365113		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	31574376		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20038797, 21995634, 22275115, 25695667, 28152297, 29113054, 30654687, 31612776		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30402022		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19194464, 24027027, 25529049, 27748080, 28887323, 28982601, 29219657		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	22761435, 27748080	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	24300435	Inhibit	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	35232428	Associate	★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	36805797	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	25448265		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	27679555		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	30894637		★☆☆☆☆ Found in Text Mining only
Mitochondrial cardiomyopathy	Mitochondrial Cardiomyopathy	BEFREE	8687011		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	25447692		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	25605458	Associate	★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	29548704		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	26812546		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	25481044	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	GWASCAT_DG	27363682		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	BEFREE	19066443, 24406150, 24953774, 28289410, 29548704, 31248423		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	22190364		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	22407228		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29268264, 31194992, 31485654		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	31194992		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	30654731		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	GWASCAT_DG	30573655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30459351		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	30459351, 37858134	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18551130, 21300795, 21948473, 23389729, 23468839, 23948443, 24027027, 24037090, 24418846, 25329677, 25695667, 27748080, 28812437, 28916785, 29207660, 29956571, 30296435, 30536473, 31095752, 31636955, 31837323		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19466606		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	34661876	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	29326554		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	24953774		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30689995		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24331409, 25173530, 26860843, 27127129, 30242869, 30964170		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12438443, 8772727		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	29400609	Associate	★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	26030385, 30654731		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	30184535	Associate	★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglophonic dwarfism	Pubtator	32519067	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	29565478		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29772430, 30092789, 31545241, 31752184		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	30092789	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28408137, 29219657		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	28408137		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20508647, 30319732	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30389604		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	30296435		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31856624	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	31515171		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	25497209		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	29130363		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	29327301		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	23384565, 28928221, 29989488		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34661876, 38136993	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	31056990	Stimulate	★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	26457809		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	29217160		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	26457809		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	8687011		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	30894637		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23075929, 31570703		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20406981, 23075929, 31570703, 37000314	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28389259		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	27304991, 30874544		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	29965781		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	29492791, 31070476		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	24418846		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	24418846	Associate	★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	31070476		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	14872483, 21068098, 22040493, 28255205, 29735171, 30312880, 31820689		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	24390342, 27193031, 30423114, 30573655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	24390342		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	10924404, 25720829		★☆☆☆☆ Found in Text Mining only
Scleroderma, Limited	Scleroderma	GWASCAT_DG	24387989		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28839236		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	35896530	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	36805797	Associate	★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25	Spinocerebellar Ataxia	UNIPROT_DG	26812546		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Squamous cell carcinoma	Carcinoma	BEFREE	26095774		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29207660		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26095774, 28761177, 34853622	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	29637616		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	29524554		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25329677, 29635244, 30365113		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25329677, 33627124, 35377342, 35990250	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	30452052		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	GWASDB_DG	23740937		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	GWASCAT_DG	23740937, 24387989, 28314753, 30573655, 31672989		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer Hurthle cell	Hurthle cell thyroid cancer	Pubtator	27816963	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	24739953		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	24739953	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	35518570	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29382381, 30773992		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	29382381, 35029026	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	21297633, 26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASDB_DG	21297633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Dysplasia	Uterine disease	Pubtator	35377342	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35638109	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	24002033		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	31462126		★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic Syndrome	BEFREE	26747760		★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	BEFREE	30986903		★☆☆☆☆ Found in Text Mining only
Vesicular Stomatitis	Vesicular Stomatitis	BEFREE	24452380		★☆☆☆☆ Found in Text Mining only