ATG5 (autophagy related 5)

Gene

• Entrez ID: 9474
• Gene name: Autophagy related 5
• Gene symbol: ATG5
• Synonyms: 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	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

• 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 name	Disease term	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
Asthma	Asthma, Childhood asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	30929738
Autoimmune diseases	Autoimmune Diseases	rs41285370, rs869025224	21383967
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs1801155, rs121908380, rs121908702, rs267606674, rs4939827, 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, rs1553149467, 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	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	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 name	Disease term	dbSNP ID	References
Ankylosing spondylitis	Ankylosing spondylitis		26974007
Cerebellar hypoplasia	Cerebellar Hypoplasia
Cholangitis	Cholangitis, Sclerosing		26974007
Crohn disease	Crohn Disease	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	26974007
Immune system diseases	Immune System Diseases		21383967
Impaired cognition	Impaired cognition
Lupus erythematosus	Lupus Erythematosus, Systemic		27193031, 18204446, 19838193, 27399966, 19838195, 28714469, 30573655, 26502338, 23740937
Lymphopenia	Lymphopenia		26568842
Myositis	Myositis		30573655
Ovarian neoplasm	ovarian neoplasm		28408137
Scleroderma	Systemic Scleroderma, Scleroderma, Limited		28314753, 31672989, 23740937, 30573655, 24387989, 24387989
Ulcerative colitis	Ulcerative Colitis		21297633, 26974007