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
• Disease Acronyms (UniProt): SCAR25
• 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	21873635
GO:0000045	Process	Autophagosome assembly	ISS
GO:0000422	Process	Autophagy of mitochondrion	IBA	21873635
GO:0001974	Process	Blood vessel remodeling	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, 26812546, 31515488, 32296183, 32814053
GO:0005737	Component	Cytoplasm	ISS
GO:0005776	Component	Autophagosome	IDA	15292400
GO:0005829	Component	Cytosol	TAS
GO:0005930	Component	Axoneme	ISS
GO:0006501	Process	C-terminal protein lipidation	IBA	21873635
GO:0006914	Process	Autophagy	IMP	26812546
GO:0006914	Process	Autophagy	ISS
GO:0006915	Process	Apoptotic process	IEA
GO:0006995	Process	Cellular response to nitrogen starvation	IBA	21873635
GO:0009620	Process	Response to fungus	IEA
GO:0016020	Component	Membrane	IDA	23093945
GO:0016236	Process	Macroautophagy	TAS
GO:0019883	Process	Antigen processing and presentation of endogenous antigen	IEA
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0031397	Process	Negative regulation of protein ubiquitination	IEA
GO:0034045	Component	Phagophore assembly site membrane	IBA	21873635
GO:0034045	Component	Phagophore assembly site membrane	ISS
GO:0034274	Component	Atg12-Atg5-Atg16 complex	IBA	21873635
GO:0035973	Process	Aggrephagy	IMP	22982048
GO:0039689	Process	Negative stranded viral RNA replication	IEA
GO:0042311	Process	Vasodilation	IEA
GO:0042493	Process	Response to drug	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043687	Process	Post-translational protein modification	ISS
GO:0044233	Component	Mitochondria-associated endoplasmic reticulum membrane	IEA
GO:0044804	Process	Autophagy of nucleus	IBA	21873635
GO:0045060	Process	Negative thymic T cell selection	IEA
GO:0048840	Process	Otolith development	IEA
GO:0050765	Process	Negative regulation of phagocytosis	IEA
GO:0051279	Process	Regulation of release of sequestered calcium ion into cytosol	IEA
GO:0055015	Process	Ventricular cardiac muscle cell development	IEA
GO:0060047	Process	Heart contraction	IEA
GO:0060548	Process	Negative regulation of cell death	IMP	19273585
GO:0061739	Process	Protein lipidation involved in autophagosome assembly	IEA
GO:0070257	Process	Positive regulation of mucus secretion	IEA
GO:0071500	Process	Cellular response to nitrosative stress	IEA
GO:0075044	Process	Positive regulation by symbiont of host autophagy	IGI	28389568
GO:1902017	Process	Regulation of cilium assembly	ISS
GO:2000378	Process	Negative regulation of reactive oxygen species metabolic process	IEA
GO:2000619	Process	Negative regulation of histone H4-K16 acetylation	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

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505	26568842
Autoimmune diseases	Autoimmune Diseases	rs869025224	21383967
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Multiple myeloma	Multiple Myeloma	rs11540652, rs78311289, rs121913482, rs397507340, rs121913343, rs121913240, rs121913529, rs730882018, rs1057517992, rs121913527, rs756183569, rs746646631, rs1574706907, rs372078034, rs745380962, rs751524927, rs1575079076, rs1575446356, rs1478603808, rs1578264146, rs1578673280, rs1579484570, rs1579491104, rs1171390403, rs1582867955, rs764264135, rs951047896, rs890521687, rs1581495906, rs1587941402, rs1003155450, rs1588299621, rs1591100766, rs1591693095, rs1029296641, rs1593107841, rs1208575764, rs1593835248, rs1594406727, rs1594966387, rs1595889508, rs1159294530, rs1597073318, rs1135402871, rs1599413207, rs1418268495, rs1212577459, rs1600394490, rs1455074519, rs1603113792, rs1603415028, rs1602247047, rs1603452612	27363682
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	22190364
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Ovarian cancer	Malignant neoplasm of ovary	rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828, rs80357208, rs55770810, rs80358165, rs80358010, rs587780226, rs536907995, rs139414606, rs371638537, rs574552037, rs730881647, rs747993448, rs786202125, rs786202962, rs121913321, rs189261858, rs869320800, rs753023295, rs779466229, rs752411477, rs80357438, rs191486604, rs760874290, rs752780954, rs760782298, rs1555591361, rs1555578360, rs1555588460, rs1555587401, rs747427602, rs112675807, rs80357393	28408137
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	26974007
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	27193031, 30423114, 24390342, 30573655
Spinocerebellar ataxia	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25	rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926, rs104894393, rs587776685, rs121908216, rs121908215, rs121908217, rs121909326, rs121918511, rs121918512, rs121918513, rs121918514, rs121918515, rs121918516, rs121918517, rs121918518, rs1555808841, rs104894699, rs104894700, rs121912425, rs121913123, rs267606939, rs201486601, rs387906679, rs151344514, rs151344515, rs151344517, rs387907033, rs387907089, rs794726680, rs761213683, rs794726681, rs1555779353, rs151344513, rs151344518, rs151344522, rs397514535, rs397514536, rs318240735, rs386134171, rs386134158, rs386134159, rs386134160, rs386134161, rs386134162, rs386134163, rs386134164, rs386134165, rs386134166, rs386134168, rs386134170, rs386134169, rs146859515, rs373728971, rs397515475, rs397515476, rs587777052, rs121908247, rs121908200, rs398122959, rs587777127, rs587777128, rs587777235, rs587777340, rs587777341, rs587777342, rs587777344, rs587777345, rs587777346, rs587777347, rs587780326, rs587777670, rs587777671, rs606231451, rs606231452, rs540331226, rs144272231, rs690016544, rs727502823, rs372250159, rs793888526, rs876657385, rs869320748, rs876657386, rs786205229, rs876657387, rs774694340, rs786205867, rs794727411, rs797044955, rs797044872, rs797045634, rs797045240, rs765592794, rs797045900, rs748445058, rs863223919, rs765987297, rs863224882, rs753611141, rs869025292, rs869025293, rs755221106, rs869312685, rs751181600, rs886037832, rs875989881, rs372245668, rs879255601, rs876657414, rs752281590, rs879253883, rs1114167316, rs879255651, rs879255653, rs879255654, rs886039392, rs540839115, rs886039762, rs201128942, rs886041279, rs531656357, rs1057519453, rs1057519454, rs573267388, rs1057519561, rs200277996, rs1064795856, rs749320057, rs750331613, rs1131692265, rs761564262, rs1555768154, rs1210764379, rs758937084, rs1555475283, rs1555475375, rs760424025, rs1555806333, rs1554308513, rs1554274719, rs1554317158, rs201920319, rs1553724533, rs1554985851, rs768831597, rs1554986345, rs1555755878, rs1554902760, rs368143665, rs1555370787, rs1322796318, rs1553756062, rs772345347, rs149905705, rs1555475794, rs760752847, rs1555781806, rs1555738369, rs1554986337, rs1184563885, rs1553758021, rs1559718601, rs1206950481, rs1568523843, rs748984540, rs1557539450, rs1557541619, rs771145682, rs1564808324, rs1567283195, rs752352896, rs1557794465, rs547792505, rs193922929, rs1571636501, rs1571636508, rs1571939827, rs1571939905, rs1559603328, rs1562374476, rs1599651549, rs1590020571, rs1598832526, rs1575415900, rs779142717, rs781016340, rs1366090807, rs1579319300, rs1311909367, rs1589625941, rs749656742, rs1317590341, rs1599943097, rs1590955348, rs749679347, rs1590911156, rs1395191127, rs1405576707, rs541484241, rs1598820860, rs1598832568, rs1589611043, rs758809498, rs754446573	26812546

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Asthma, Childhood asthma		30929738	ClinVar, GWAS
Crohn disease	Crohn Disease		26974007	ClinVar
Spinocerebellar Ataxia	spinocerebellar ataxia, autosomal recessive 25			GenCC
Systemic lupus erythematosus	Systemic lupus erythematosus			GWAS
Ulcerative colitis	Ulcerative colitis			GWAS
Biliary Cholangitis	Biliary Cholangitis			GWAS
Acne	Acne			GWAS
Sjogren-Larsson Syndrome	Sjogren-Larsson Syndrome			GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Sarcoidosis	Sarcoidosis			GWAS
Crohn Disease	Crohn Disease			GWAS
Insomnia	Insomnia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	33510126
Adenocarcinoma of Lung	Associate	29259263, 34657484
Alzheimer Disease	Stimulate	29039784
Arthritis Rheumatoid	Associate	21068098, 28255205
Asthma	Associate	22536318, 26701229
Atherosclerosis	Associate	39741278
Autoimmune Diseases	Associate	26039132
Breast Neoplasms	Associate	23026799, 38263419
Carcinogenesis	Associate	24300435, 32186433
Carcinoma Hepatocellular	Associate	23317196, 26481188, 34409736, 36157211, 37474520
Carcinoma Hepatocellular	Stimulate	27729742
Carcinoma Non Small Cell Lung	Associate	27184816, 30964170, 33168592, 33413028, 35605790
Carcinoma Renal Cell	Associate	31959887, 33145996
Carcinoma Squamous Cell	Associate	11215278
Cardiomyopathy Familial Hypertrophic 1	Associate	27432584
Cataract	Associate	34872443
Cell Transformation Neoplastic	Associate	28726781
Choriocarcinoma	Associate	31615473
Cognition Disorders	Associate	34661876
Colorectal Neoplasms	Associate	26163626, 28651493, 31502570, 34894411, 36333388
Coronary Disease	Associate	32132293
COVID 19	Associate	35321977, 36478304
Crohn Disease	Associate	23740229
Death	Associate	28545442, 37936170
Drug Related Side Effects and Adverse Reactions	Associate	19417161, 19910452, 21368860, 21655094, 23917044, 25103559, 29368980, 31789418, 31894301, 34051014
Drug Related Side Effects and Adverse Reactions	Stimulate	23700428
Esophageal Neoplasms	Associate	32831056
Fatty Liver	Associate	26999124
Fibrosis	Stimulate	26722507
Gastrointestinal Stromal Tumors	Associate	23196876
GATA2 Deficiency	Associate	25203537
Gaucher Disease	Associate	35518570
Glioblastoma	Associate	29538296, 32186433, 35123435
Glioma	Associate	27163161
Graves Disease	Associate	35518570
Graves Ophthalmopathy	Associate	35518570
Hashimoto Disease	Associate	35518570
Hematologic Diseases	Associate	24205307
Hepatitis Alcoholic	Associate	27432584
Hepatitis C	Associate	25265476
Hepatoblastoma	Associate	21972944
HIV Infections	Associate	30344003, 30653393
HTLV I Infections	Associate	29962265
Hypoxia	Associate	18059169, 24818601, 25115400, 32186433, 35638109, 36805797
Hypoxia Brain	Associate	23938604
Infections	Inhibit	29095258
Inflammation	Associate	26701229
Intestinal Diseases	Stimulate	30742638
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	21418740, 22407228, 22617440, 25701353
Leukemia Myelogenous Chronic BCR ABL Positive	Stimulate	24755409
Leukemia Myeloid Acute	Associate	27732946, 29743969, 35128828
Leukemia Promyelocytic Acute	Associate	32707918
Liver Cirrhosis	Associate	25265476
Liver Diseases	Associate	25265476
Liver Failure	Associate	26722507
Lupus Erythematosus Systemic	Associate	24205307, 26509176
Lupus Erythematosus Systemic	Stimulate	26039132
Lupus Nephritis	Associate	26039132, 26509176
Lymphoma Mantle Cell	Associate	31498006
Macular Degeneration	Associate	33172148
Melanoma	Associate	22761435, 27748080
Melanoma	Inhibit	24300435
Melanoma Cutaneous Malignant	Associate	35232428
Memory Disorders	Associate	36805797
Mitochondrial Diseases	Associate	25605458
Morning Sickness	Associate	36805797
Multiple Myeloma	Associate	25481044
Nasopharyngeal Carcinoma	Associate	30459351, 37858134
Neointima	Associate	31894301
Neoplasm Metastasis	Associate	25329677, 37000314
Neoplasms	Associate	23945651, 24300435, 24733045, 26790955, 28152297, 29967346, 30319732, 30742638, 31502570, 31545241, 36811466, 37000314
Neoplasms	Inhibit	25203537, 35029026
Neoplasms	Stimulate	27729742
Neurodegenerative Diseases	Associate	34661876
Neuromyelitis Optica	Associate	24953774
Neurotoxicity Syndromes	Associate	35472370
Nocturia	Associate	36805797
Obesity	Associate	29400609
Osteitis Deformans	Associate	26030385
Osteoarthritis	Associate	30184535
Osteoglophonic dwarfism	Stimulate	32519067
Osteosarcoma	Associate	30092789
Ovarian Neoplasms	Associate	20508647, 30319732
Overweight	Associate	29400609
Pancreatic Neoplasms	Associate	31856624
Parkinson Disease	Associate	34661876, 38136993
Polycystic Ovary Syndrome	Stimulate	31056990
Polyradiculoneuropathy Chronic Inflammatory Demyelinating	Associate	24953774
Prostatic Neoplasms	Associate	20406981, 23075929, 31570703, 37000314
Retinal Dysplasia	Associate	30742638
Retinoblastoma	Associate	24418846
Sjogren's Syndrome	Associate	35896530
Sleep Apnea Obstructive	Associate	36805797
Squamous Cell Carcinoma of Head and Neck	Associate	26095774, 28761177, 34853622
Status Asthmaticus	Associate	22536318
Stomach Neoplasms	Associate	25329677, 33627124, 35377342, 35990250
Thyroid cancer Hurthle cell	Associate	27816963
Thyroid Neoplasms	Associate	24739953
Thyroiditis Autoimmune	Associate	35518570
Triple Negative Breast Neoplasms	Associate	29382381, 35029026
Uterine Cervical Dysplasia	Associate	35377342
Uterine Cervical Neoplasms	Associate	35638109
Weight Loss	Stimulate	24404136