ADD2 (adducin 2)

Gene

• Entrez ID: 119
• Gene name: Adducin 2
• Gene symbol: ADD2
• Synonyms (NCBI Gene): ADDB
• Chromosome: 2
• Chromosome location: 2p13.3
• Summary: Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048288	hsa-miR-107	CLASH	23622248
MIRT035978	hsa-miR-1301-3p	CLASH	23622248
MIRT708226	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT708226	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT708225	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT708224	hsa-miR-4517	HITS-CLIP	21572407
MIRT708223	hsa-miR-5583-3p	HITS-CLIP	21572407
MIRT708222	hsa-miR-3163	HITS-CLIP	21572407
MIRT708221	hsa-miR-369-3p	HITS-CLIP	21572407
MIRT708220	hsa-miR-5692b	HITS-CLIP	21572407
MIRT708219	hsa-miR-5692c	HITS-CLIP	21572407
MIRT708218	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT708217	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT708216	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT708215	hsa-miR-374a-5p	HITS-CLIP	21572407
MIRT708214	hsa-miR-374b-5p	HITS-CLIP	21572407
MIRT708213	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT539412	hsa-miR-5009-3p	PAR-CLIP	22012620
MIRT539411	hsa-miR-3151-3p	PAR-CLIP	22012620
MIRT539410	hsa-miR-1290	PAR-CLIP	22012620
MIRT539409	hsa-miR-3192-3p	PAR-CLIP	22012620
MIRT539408	hsa-miR-3685	PAR-CLIP	22012620
MIRT539407	hsa-miR-384	PAR-CLIP	22012620
MIRT539406	hsa-miR-4762-3p	PAR-CLIP	22012620
MIRT490852	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT490851	hsa-miR-6856-5p	PAR-CLIP	23592263
MIRT490850	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT490848	hsa-miR-4779	PAR-CLIP	23592263
MIRT490849	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT490847	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT490846	hsa-miR-940	PAR-CLIP	23592263
MIRT490845	hsa-miR-4459	PAR-CLIP	23592263
MIRT490843	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT490844	hsa-miR-4784	PAR-CLIP	23592263
MIRT490842	hsa-miR-1827	PAR-CLIP	23592263
MIRT490841	hsa-miR-4419a	PAR-CLIP	23592263
MIRT490840	hsa-miR-4510	PAR-CLIP	23592263
MIRT490839	hsa-miR-6127	PAR-CLIP	23592263
MIRT490838	hsa-miR-6129	PAR-CLIP	23592263
MIRT490836	hsa-miR-6130	PAR-CLIP	23592263
MIRT490837	hsa-miR-6133	PAR-CLIP	23592263
MIRT490835	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT490834	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT490833	hsa-miR-4306	PAR-CLIP	23592263
MIRT490832	hsa-miR-4644	PAR-CLIP	23592263
MIRT490830	hsa-miR-765	PAR-CLIP	23592263
MIRT490831	hsa-miR-3612	PAR-CLIP	23592263
MIRT490829	hsa-miR-650	PAR-CLIP	23592263
MIRT490828	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT490827	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT490826	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT490824	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT708226	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT708226	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT708225	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT708224	hsa-miR-4517	HITS-CLIP	21572407
MIRT708223	hsa-miR-5583-3p	HITS-CLIP	21572407
MIRT708222	hsa-miR-3163	HITS-CLIP	21572407
MIRT708221	hsa-miR-369-3p	HITS-CLIP	21572407
MIRT708220	hsa-miR-5692b	HITS-CLIP	21572407
MIRT708219	hsa-miR-5692c	HITS-CLIP	21572407
MIRT708218	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT708217	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT708216	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT708215	hsa-miR-374a-5p	HITS-CLIP	21572407
MIRT708214	hsa-miR-374b-5p	HITS-CLIP	21572407
MIRT708213	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT539412	hsa-miR-5009-3p	PAR-CLIP	22012620
MIRT539411	hsa-miR-3151-3p	PAR-CLIP	22012620
MIRT539410	hsa-miR-1290	PAR-CLIP	22012620
MIRT539409	hsa-miR-3192-3p	PAR-CLIP	22012620
MIRT539408	hsa-miR-3685	PAR-CLIP	22012620
MIRT539407	hsa-miR-384	PAR-CLIP	22012620
MIRT539406	hsa-miR-4762-3p	PAR-CLIP	22012620
MIRT490852	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT490851	hsa-miR-6856-5p	PAR-CLIP	23592263
MIRT490850	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT490848	hsa-miR-4779	PAR-CLIP	23592263
MIRT490849	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT490847	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT490846	hsa-miR-940	PAR-CLIP	23592263
MIRT490845	hsa-miR-4459	PAR-CLIP	23592263
MIRT490843	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT490844	hsa-miR-4784	PAR-CLIP	23592263
MIRT490842	hsa-miR-1827	PAR-CLIP	23592263
MIRT490841	hsa-miR-4419a	PAR-CLIP	23592263
MIRT490840	hsa-miR-4510	PAR-CLIP	23592263
MIRT490839	hsa-miR-6127	PAR-CLIP	23592263
MIRT490838	hsa-miR-6129	PAR-CLIP	23592263
MIRT490836	hsa-miR-6130	PAR-CLIP	23592263
MIRT490837	hsa-miR-6133	PAR-CLIP	23592263
MIRT490835	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT490834	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT490833	hsa-miR-4306	PAR-CLIP	23592263
MIRT490832	hsa-miR-4644	PAR-CLIP	23592263
MIRT490830	hsa-miR-765	PAR-CLIP	23592263
MIRT490831	hsa-miR-3612	PAR-CLIP	23592263
MIRT490829	hsa-miR-650	PAR-CLIP	23592263
MIRT490828	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT490827	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT490826	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT490824	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT768539	hsa-miR-1267	CLIP-seq
MIRT768540	hsa-miR-129-3p	CLIP-seq
MIRT768541	hsa-miR-1470	CLIP-seq
MIRT768542	hsa-miR-188-5p	CLIP-seq
MIRT768543	hsa-miR-3126-5p	CLIP-seq
MIRT768544	hsa-miR-4314	CLIP-seq
MIRT768545	hsa-miR-4443	CLIP-seq
MIRT768546	hsa-miR-4652-3p	CLIP-seq
MIRT768547	hsa-miR-4667-3p	CLIP-seq
MIRT768548	hsa-miR-4667-5p	CLIP-seq
MIRT768549	hsa-miR-4685-5p	CLIP-seq
MIRT768550	hsa-miR-4690-3p	CLIP-seq
MIRT768551	hsa-miR-4700-5p	CLIP-seq
MIRT768552	hsa-miR-4710	CLIP-seq
MIRT768553	hsa-miR-4747-5p	CLIP-seq
MIRT768554	hsa-miR-637	CLIP-seq
MIRT768555	hsa-miR-1207-5p	CLIP-seq
MIRT768556	hsa-miR-1287	CLIP-seq
MIRT768557	hsa-miR-15a	CLIP-seq
MIRT768558	hsa-miR-15b	CLIP-seq
MIRT768559	hsa-miR-16	CLIP-seq
MIRT768560	hsa-miR-186	CLIP-seq
MIRT768561	hsa-miR-18a	CLIP-seq
MIRT768562	hsa-miR-18b	CLIP-seq
MIRT768563	hsa-miR-195	CLIP-seq
MIRT768564	hsa-miR-214	CLIP-seq
MIRT768565	hsa-miR-219-1-3p	CLIP-seq
MIRT768566	hsa-miR-3135b	CLIP-seq
MIRT768567	hsa-miR-3136-5p	CLIP-seq
MIRT768568	hsa-miR-3619-5p	CLIP-seq
MIRT768569	hsa-miR-424	CLIP-seq
MIRT768570	hsa-miR-4279	CLIP-seq
MIRT768571	hsa-miR-4426	CLIP-seq
MIRT768572	hsa-miR-4436b-3p	CLIP-seq
MIRT768573	hsa-miR-4439	CLIP-seq
MIRT768574	hsa-miR-4468	CLIP-seq
MIRT768575	hsa-miR-4480	CLIP-seq
MIRT768576	hsa-miR-4513	CLIP-seq
MIRT768577	hsa-miR-4638-3p	CLIP-seq
MIRT768578	hsa-miR-4647	CLIP-seq
MIRT768579	hsa-miR-4662b	CLIP-seq
MIRT768580	hsa-miR-4682	CLIP-seq
MIRT768581	hsa-miR-4735-3p	CLIP-seq
MIRT768582	hsa-miR-4761-5p	CLIP-seq
MIRT768583	hsa-miR-4763-3p	CLIP-seq
MIRT768584	hsa-miR-497	CLIP-seq
MIRT768585	hsa-miR-571	CLIP-seq
MIRT768586	hsa-miR-711	CLIP-seq
MIRT768587	hsa-miR-761	CLIP-seq
MIRT1926685	hsa-miR-224	CLIP-seq
MIRT1926686	hsa-miR-3189-3p	CLIP-seq
MIRT1926687	hsa-miR-635	CLIP-seq
MIRT2383934	hsa-miR-1292	CLIP-seq
MIRT768540	hsa-miR-129-3p	CLIP-seq
MIRT1926686	hsa-miR-3189-3p	CLIP-seq
MIRT2383935	hsa-miR-4471	CLIP-seq
MIRT768550	hsa-miR-4690-3p	CLIP-seq
MIRT2441920	hsa-miR-1275	CLIP-seq
MIRT768565	hsa-miR-219-1-3p	CLIP-seq
MIRT2441921	hsa-miR-3170	CLIP-seq
MIRT2441922	hsa-miR-4259	CLIP-seq
MIRT2441923	hsa-miR-4665-5p	CLIP-seq
MIRT768580	hsa-miR-4682	CLIP-seq
MIRT768585	hsa-miR-571	CLIP-seq
MIRT2441924	hsa-miR-647	CLIP-seq
MIRT1926686	hsa-miR-3189-3p	CLIP-seq
MIRT2443251	hsa-miR-4661-5p	CLIP-seq
MIRT1926687	hsa-miR-635	CLIP-seq
MIRT1926685	hsa-miR-224	CLIP-seq
MIRT2470222	hsa-miR-3140-5p	CLIP-seq
MIRT2470223	hsa-miR-3155	CLIP-seq
MIRT2470224	hsa-miR-3155b	CLIP-seq
MIRT1926686	hsa-miR-3189-3p	CLIP-seq
MIRT2470225	hsa-miR-3622a-3p	CLIP-seq
MIRT2470226	hsa-miR-3622b-3p	CLIP-seq
MIRT2470227	hsa-miR-4444	CLIP-seq
MIRT2470228	hsa-miR-4452	CLIP-seq
MIRT2443251	hsa-miR-4661-5p	CLIP-seq
MIRT2470229	hsa-miR-4680-3p	CLIP-seq
MIRT2470230	hsa-miR-484	CLIP-seq
MIRT1926687	hsa-miR-635	CLIP-seq
MIRT2470231	hsa-miR-769-5p	CLIP-seq
MIRT1926686	hsa-miR-3189-3p	CLIP-seq
MIRT2443251	hsa-miR-4661-5p	CLIP-seq
MIRT1926687	hsa-miR-635	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IMP	25425738
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005516	Function	Calmodulin binding	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IBA	21873635
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0007416	Process	Synapse assembly	IEA
GO:0008290	Component	F-actin capping protein complex	IDA	8626479
GO:0014069	Component	Postsynaptic density	IBA	21873635
GO:0019901	Function	Protein kinase binding	IPI	25425738
GO:0030036	Process	Actin cytoskeleton organization	IC	3693401
GO:0030097	Process	Hemopoiesis	IEA
GO:0030507	Function	Spectrin binding	IDA	7642559
GO:0031410	Component	Cytoplasmic vesicle	IDA	18347014
GO:0032092	Process	Positive regulation of protein binding	IDA	3693401, 7642559
GO:0042803	Function	Protein homodimerization activity	IPI	7642559
GO:0044853	Component	Plasma membrane raft	IMP	25425738
GO:0046982	Function	Protein heterodimerization activity	IPI	7642559
GO:0050900	Process	Leukocyte migration	IMP	25425738
GO:0050901	Process	Leukocyte tethering or rolling	IMP	25425738
GO:0051015	Function	Actin filament binding	IBA	21873635
GO:0051015	Function	Actin filament binding	IDA	7642559
GO:0051016	Process	Barbed-end actin filament capping	IBA	21873635
GO:0051016	Process	Barbed-end actin filament capping	IDA	8626479
GO:0051017	Process	Actin filament bundle assembly	IDA	3693401
GO:0055085	Process	Transmembrane transport	TAS
GO:0065003	Process	Protein-containing complex assembly	IDA	18347014

Other IDs

• MIM: 102681
• HGNC: 244
• e!Ensembl: ENSG00000075340

Protein

• UniProt ID: P35612
• Protein name: Beta-adducin (Erythrocyte adducin subunit beta)
• Protein function: Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to the erythrocyte membrane receptor SLC2A1/GLUT1 and may therefore provide a link between the spectrin cytoskeleton to the plasma membrane.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00596	Aldolase_II	135 → 317	Class II Aldolase and Adducin N-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed mainly in brain, spleen, kidney cortex and medulla, and heart. Also expressed in human umbilical vein endothelial cells, human vascular smooth muscle cells, kidney tubular cells and K-562 cell line. {ECO:0000269|PubMed:129510
• Sequence:

  MSEETVPEAASPPPPQGQPYFDRFSEDDPEYMRLRNRAADLRQDFNLMEQKKRVTMILQS
  PSFREELEGLIQEQMKKGNNSSNIWALRQIADFMASTSHAVFPTSSMNVSMMTPINDLHT
  ADSLNLAKGERLMRCKISSVYRLLDLYGWAQLSDTYVTLRVSKEQDHFLISPKGVSCSEV
  TASSLIKVNILGEVVEKGSSCFPVDTTGFCLHSAIYAARPDVRCIIHLHTPATAAVSAMK
  WGLLPVSHNALLVGDMAYYDFNGEMEQEADRINLQKCLGPTCKILVLRNHGVVALGDTVE
  EAFYKIFHLQAACEIQVSALSSAGGVENLILLEQEKHRPHEVGSVQWAGSTFGPMQKSRL
  GEHEFEALMRMLDNLGYRTGYTYRHPFVQEKTKHKSEVEIPATVTAFVFEEDGAPVPALR
  QHAQKQQKEKTRWLNTPNTYLRVNVADEVQRSMGSPRPKTTWMKADEVEKSSSGMPIRIE
  NPNQFVPLYTDPQEVLEMRNKIREQNRQDVKSAGPQSQLLASVIAEKSRSPSTESQLMSK
  GDEDTKDDSEETVPNPFSQLTDQELEEYKKEVERKKLELDGEKETAPEEPGSPAKSAPAS
  PVQSPAKEAETKSPLVSPSKSLEEGTKKTETSKAATTEPETTQPEGVVVNGREEEQTAEE
  ILSKGLSQMTTSADTDVDTSKDKTESVTSGPMSPEGSPSKSPSKKKKKFRTPSFLKKSKK
  KEKVES

• Sequence length: 726

Pathways

Reactome:

Miscellaneous transport and binding events

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cardiomyopathy	Cardiomyopathy, Dilated	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs387906397, rs137854607, rs28935197, rs199473684, rs121964858, rs74315379, rs74315380, rs104894724, rs104894727, rs104894728, rs104894729, rs104894730, rs121917760, rs267607125, rs104894503, rs267607155, rs267607156, rs121918597, rs121918600, rs28933979, rs121918070, rs76992529, rs111033559, rs111033560, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs3218714, rs121913637, rs121913638, rs121913641, rs121913642, rs121913651, rs267606911, rs267606908, rs730880850, rs61046466, rs57520892, rs28933091, rs28933092, rs28933093, rs121913008, rs121913003, rs121912996, rs121912997, rs193922680, rs387906875, rs199474703, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922683, rs193922668, rs386134243, rs267607578, rs36211723, rs193922390, rs193922672, rs193922697, rs387907267, rs45546039, rs387907218, rs397515870, rs397515893, rs397515894, rs397515903, rs397515905, rs375882485, rs397515907, rs397515912, rs397515916, rs397515925, rs397515926, rs397515934, rs397515937, rs397515943, rs397515944, rs397515947, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515973, rs397515974, rs397515977, rs376395543, rs397515979, rs397515982, rs397515990, rs397515991, rs397515992, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516019, rs397516023, rs397516029, rs397516031, rs397516037, rs397516040, rs397516042, rs397516044, rs397516049, rs397516057, rs397516059, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs397516082, rs397516083, rs397516088, rs397516089, rs397516103, rs397516123, rs397516127, rs371898076, rs397516132, rs397516142, rs3218716, rs397516154, rs397516161, rs397516165, rs397516170, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516248, rs397516252, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516269, rs397516347, rs397516349, rs397516352, rs397516353, rs397516355, rs397516356, rs397516357, rs397516364, rs397516370, rs397516371, rs397516373, rs397516386, rs397516406, rs397516454, rs397516456, rs397516461, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs62636495, rs397516784, rs397516881, rs397516913, rs397516915, rs397516927, rs397516940, rs397516943, rs397516945, rs397516955, rs397516956, rs397516973, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517012, rs397517021, rs397517065, rs397517547, rs397517576, rs397517580, rs397517584, rs397517586, rs397517587, rs397517589, rs397517601, rs397517620, rs397517624, rs397517626, rs397517628, rs72646831, rs397517633, rs397517643, rs72646846, rs397517664, rs397517679, rs397517689, rs397517695, rs397517696, rs397517698, rs397517721, rs397517735, rs397517741, rs397517749, rs397517750, rs397517758, rs397517776, rs397517787, rs397517830, rs397517887, rs397517888, rs397517889, rs58013325, rs397517895, rs56984562, rs267607646, rs58917027, rs267607594, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397514742, rs886041395, rs397515482, rs267607490, rs58999456, rs267607555, rs61672878, rs267607618, rs267607577, rs57730570, rs267607582, rs267607581, rs61444459, rs59270054, rs61661343, rs267607570, rs59026483, rs267607571, rs59332535, rs199473161, rs398123262, rs869320740, rs606231324, rs587782927, rs201754030, rs58389804, rs587782958, rs587782961, rs587782962, rs587782986, rs138049878, rs376897125, rs368765949, rs111569862, rs727504247, rs727503537, rs727504535, rs727504550, rs727504679, rs727503546, rs730880365, rs727504646, rs727505014, rs727505288, rs727503557, rs727503559, rs730880343, rs727503615, rs727504825, rs727503565, rs727504655, rs727505352, rs727504466, rs727504531, rs727503567, rs371678190, rs727503586, rs727505319, rs727503547, rs727505076, rs727505224, rs727503552, rs727504856, rs727504782, rs727504660, rs557312035, rs727505284, rs727504851, rs727504589, rs727504499, rs727504843, rs727504452, rs727503697, rs150974575, rs727504498, rs727503598, rs727503602, rs727503607, rs727504801, rs727504738, rs727505115, rs727505283, rs727505109, rs727504271, rs727504321, rs727504289, rs727503172, rs727503180, rs727503182, rs727504265, rs727504334, rs727503192, rs397515932, rs727504287, rs200411226, rs727503204, rs727504269, rs367947846, rs730880335, rs727502897, rs727503166, rs111683277, rs727503195, rs727503203, rs727503212, rs727503738, rs727504381, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs727503253, rs202141173, rs727504310, rs727503258, rs727503260, rs727504320, rs727504240, rs727503263, rs727503269, rs727503278, rs727504432, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504379, rs727504389, rs727504275, rs727504557, rs727502994, rs727504184, rs730880336, rs730880362, rs730880199, rs730880246, rs72648265, rs730880243, rs730880242, rs730880241, rs574660186, rs730880245, rs730880082, rs730880092, rs730880093, rs730880055, rs397515939, rs730881119, rs397516020, rs730880675, rs730880719, rs730880672, rs730880671, rs730880718, rs730880666, rs730880717, rs730880655, rs730880715, rs730880654, rs730880714, rs730880651, rs730880648, rs730880713, rs730880546, rs730880695, rs730880533, rs730880531, rs730880639, rs730880689, rs730880686, rs730880629, rs368121566, rs375607980, rs730880704, rs730880698, rs730880750, rs730880748, rs730880875, rs730880845, rs1565623093, rs786204339, rs786204336, rs786204392, rs786204388, rs786204950, rs786204951, rs794727381, rs760576804, rs112188483, rs794728597, rs794728606, rs794728593, rs59564495, rs190140598, rs794728826, rs794728803, rs794728106, rs149701627, rs1554108152, rs770873593, rs794728124, rs141026028, rs794728094, rs794729098, rs794729116, rs764817683, rs751288871, rs201405287, rs794729137, rs794729133, rs766209297, rs767987619, rs769220833, rs794729120, rs112240298, rs748382770, rs794729365, rs794729301, rs757451467, rs794729359, rs794729354, rs794729353, rs794729285, rs794729284, rs794729338, rs794729332, rs368452607, rs794729278, rs794729325, rs794729324, rs754866489, rs794729265, rs751502842, rs794729320, rs794729380, rs748313513, rs797046064, rs863225113, rs863225106, rs761507504, rs864622224, rs1057515421, rs751039219, rs869025555, rs869025546, rs869025554, rs869025559, rs869025545, rs869025558, rs869025557, rs200797552, rs869025550, rs869025549, rs869025544, rs869025552, rs869025548, rs869025556, rs770029258, rs869025523, rs869025398, rs869025399, rs869025395, rs869025365, rs869025469, rs869025483, rs749838192, rs869312028, rs869312037, rs869312038, rs869312039, rs869312040, rs869312041, rs869312042, rs869312044, rs869312046, rs373040154, rs869312047, rs869312048, rs869312049, rs869312050, rs869312051, rs869312052, rs869312054, rs869312055, rs777602537, rs869312056, rs869312057, rs869312058, rs869312059, rs869312060, rs770038577, rs869312061, rs869312062, rs869312063, rs869312064, rs869312065, rs869312066, rs869312067, rs869312068, rs869312069, rs771562210, rs869312070, rs869312071, rs759231562, rs869312072, rs869312073, rs764243269, rs768345594, rs869312074, rs869312075, rs869312076, rs869312077, rs869312078, rs869312079, rs869312080, rs772121356, rs869312081, rs869312082, rs72648250, rs869312083, rs869312084, rs869312085, rs869312086, rs869312087, rs869312100, rs779129892, rs756367933, rs869312102, rs869312103, rs869312104, rs869312105, rs869312106, rs770767998, rs869312107, rs775186117, rs869312108, rs869312109, rs869312110, rs869312111, rs755261062, rs869312112, rs763824247, rs869312113, rs869312114, rs869312115, rs869312116, rs774604740, rs869312117, rs779996703, rs869312118, rs869312119, rs869312120, rs869312121, rs869312122, rs869312045, rs753948675, rs878854371, rs794728589, rs876657650, rs727503512, rs876658027, rs876657672, rs876657671, rs868494032, rs876657670, rs780512337, rs876657669, rs876657668, rs876657666, rs876657665, rs876657664, rs876657663, rs148894066, rs876657634, rs869248137, rs876657705, rs876657704, rs727503213, rs869025496, rs876657662, rs876657884, rs36211715, rs878855234, rs879255521, rs879255639, rs886038928, rs751746401, rs886039030, rs869038795, rs886039343, rs2069544, rs1114167341, rs1114167340, rs886041322, rs886042331, rs886043718, rs747662439, rs886043924, rs773840992, rs886044536, rs1057517903, rs754354190, rs779650200, rs902082118, rs1057518920, rs1057519457, rs1057523045, rs370072439, rs1064792916, rs1060500495, rs1060500575, rs926741242, rs774763657, rs746877365, rs1060500610, rs1060501484, rs1060501479, rs1064792928, rs1060501443, rs1060499604, rs1064793814, rs1064796347, rs977277400, rs1064793429, rs745811346, rs1064794350, rs1555142963, rs1064793983, rs769665204, rs751261054, rs769139957, rs1131691873, rs1131691655, rs1131691673, rs1464253797, rs1408345511, rs1553603152, rs1554398705, rs1322596650, rs1553539995, rs1553611989, rs749961489, rs1444727212, rs1243301263, rs971618751, rs1553662326, rs1389777522, rs764985774, rs1554108287, rs1554105911, rs1249913357, rs1554108012, rs111806457, rs1402879259, rs748416758, rs794727046, rs1425855043, rs869178171, rs1432810664, rs749465164, rs878898365, rs1419374180, rs770878165, rs1553503113, rs1553691320, rs1553577362, rs1553603456, rs1417036453, rs1553741321, rs1553479603, rs1553607425, rs974671846, rs1420159591, rs745688425, rs1554875409, rs1555144459, rs1555338080, rs1555338574, rs1555148035, rs200889953, rs1401116572, rs1285329277, rs974510652, rs1263987728, rs1555122928, rs992189342, rs1555142971, rs1553261855, rs1553265647, rs1553488049, rs1553644307, rs1553663867, rs1553940122, rs28763965, rs758891557, rs762110595, rs1555436118, rs1555435531, rs565910322, rs376766195, rs1562168768, rs763443331, rs1562169661, rs1370579526, rs1561703922, rs1564773559, rs1559003939, rs1559598775, rs1559415567, rs1559877046, rs776970935, rs553526525, rs1561698362, rs1561694696, rs1561702640, rs730880751, rs1060505018, rs766330686, rs1565631430, rs1565050320, rs876657767, rs1565053085, rs1565053147, rs1557778277, rs1557776329, rs886039136, rs771262904, rs727504314, rs1563000044, rs541612157, rs766265889, rs1558988204, rs1559051231, rs1559262463, rs1559448864, rs1559469421, rs1559556267, rs1559746821, rs1559873786, rs1561323791, rs1561445221, rs1561686893, rs1561698714, rs1561702549, rs1565623439, rs1565623713, rs1565626367, rs1565627110, rs1565627145, rs397515889, rs1565628520, rs774316050, rs1592798444, rs1565590309, rs1566967399, rs1569552936, rs1559712733, rs1561690319, rs1561701721, rs869125101, rs1595843553, rs1576018303, rs746115846, rs777315336, rs1431206462, rs1572358674, rs1477669354, rs1575584918, rs1575614351, rs72648222, rs1575799625, rs1576014673, rs1576147786, rs747469275, rs1581805658, rs1227662860, rs1585169831, rs1592729525, rs762753884, rs1596155145, rs1572358821, rs991187915, rs1575649368, rs1060500562, rs1450218521, rs775256998, rs1572332762, rs1571627006, rs1575253896, rs1575616801, rs1575775337, rs1575948935, rs1574083547, rs1574087037, rs1589632398, rs1585171818, rs1603365762, rs768079285, rs1575663327, rs1575796530, rs1574659116, rs267607001, rs1567093598, rs1572359848, rs1060500505, rs1575512482, rs1575872984, rs1161735211, rs1576141328, rs906494713, rs1576685753, rs1266489077, rs1581813564, rs778808038, rs397516363, rs1596386673, rs1575610911, rs727503266, rs1603377936, rs777702465, rs1708504899, rs2054381012, rs1575285509, rs1695435412, rs1699247877, rs879139686, rs2060187635, rs761380979, rs1464886350, rs1956192035, rs752522753, rs1205836993, rs2095894178	20975947
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959

Unknown
Disease term	Disease name	Evidence	References	Source
Ischemic Stroke	Ischemic Stroke			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Anemia Hemolytic	Associate	12653680
Colorectal Neoplasms	Associate	27493446
Diabetes Mellitus Type 2	Associate	31449493
Endometrial Neoplasms	Associate	30840261
Hemolysis	Associate	12653680
Hypertension	Associate	12427140, 17854487
Lymphatic Metastasis	Associate	30082491
Neuroacanthocytosis	Associate	21951684
Retinopathy of Prematurity	Associate	37894989
Urinary Bladder Neurogenic	Associate	31449493
Voice Disorders	Associate	12653680