AP1B1 (adaptor related protein complex 1 subunit beta 1)

Gene

• Entrez ID: 162
• Gene name: Adaptor related protein complex 1 subunit beta 1
• Gene symbol: AP1B1
• Synonyms (NCBI Gene): ADTB1, AP105A, BAM22, CLAPB2, KIDAR
• Disease Acronyms (UniProt): KIDAR
• Chromosome: 22
• Chromosome location: 22q12.2
• Summary: Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembra

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs780548317	C>A	Pathogenic	Coding sequence variant, stop gained
rs1602683532	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602749299	A>G	Pathogenic	Missense variant, coding sequence variant
rs1602761438	C>T	Pathogenic	Intron variant, splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023555	hsa-miR-1-3p	Proteomics	18668040
MIRT023555	hsa-miR-1-3p	Microarray	18668037
MIRT046805	hsa-miR-222-3p	CLASH	23622248
MIRT041898	hsa-miR-484	CLASH	23622248
MIRT040921	hsa-miR-18a-3p	CLASH	23622248
MIRT040619	hsa-miR-92b-3p	CLASH	23622248
MIRT039122	hsa-miR-769-3p	CLASH	23622248
MIRT037846	hsa-miR-455-3p	CLASH	23622248
MIRT786782	hsa-miR-1913	CLIP-seq
MIRT786783	hsa-miR-3117-5p	CLIP-seq
MIRT786784	hsa-miR-3166	CLIP-seq
MIRT786785	hsa-miR-3192	CLIP-seq
MIRT786786	hsa-miR-3194-3p	CLIP-seq
MIRT786787	hsa-miR-324-3p	CLIP-seq
MIRT786788	hsa-miR-3616-3p	CLIP-seq
MIRT786789	hsa-miR-3689a-3p	CLIP-seq
MIRT786790	hsa-miR-3689c	CLIP-seq
MIRT786791	hsa-miR-3919	CLIP-seq
MIRT786792	hsa-miR-3941	CLIP-seq
MIRT786793	hsa-miR-4436b-3p	CLIP-seq
MIRT786794	hsa-miR-4459	CLIP-seq
MIRT786795	hsa-miR-466	CLIP-seq
MIRT786796	hsa-miR-4671-5p	CLIP-seq
MIRT786797	hsa-miR-4672	CLIP-seq
MIRT786798	hsa-miR-4728-5p	CLIP-seq
MIRT786799	hsa-miR-4749-3p	CLIP-seq
MIRT786800	hsa-miR-4779	CLIP-seq
MIRT786801	hsa-miR-4795-3p	CLIP-seq
MIRT786802	hsa-miR-4797-5p	CLIP-seq
MIRT786803	hsa-miR-490-3p	CLIP-seq
MIRT786804	hsa-miR-556-3p	CLIP-seq
MIRT786805	hsa-miR-665	CLIP-seq
MIRT786806	hsa-miR-765	CLIP-seq
MIRT786807	hsa-miR-922	CLIP-seq
MIRT786808	hsa-miR-1	CLIP-seq
MIRT786809	hsa-miR-1225-3p	CLIP-seq
MIRT786810	hsa-miR-1254	CLIP-seq
MIRT786811	hsa-miR-1293	CLIP-seq
MIRT786812	hsa-miR-1470	CLIP-seq
MIRT786813	hsa-miR-1539	CLIP-seq
MIRT786814	hsa-miR-1915	CLIP-seq
MIRT786815	hsa-miR-1976	CLIP-seq
MIRT786816	hsa-miR-206	CLIP-seq
MIRT786817	hsa-miR-2682	CLIP-seq
MIRT786818	hsa-miR-298	CLIP-seq
MIRT786819	hsa-miR-3116	CLIP-seq
MIRT786820	hsa-miR-3157-3p	CLIP-seq
MIRT786821	hsa-miR-3162-3p	CLIP-seq
MIRT786822	hsa-miR-3189-3p	CLIP-seq
MIRT786823	hsa-miR-3193	CLIP-seq
MIRT786824	hsa-miR-34a	CLIP-seq
MIRT786825	hsa-miR-34c-5p	CLIP-seq
MIRT786826	hsa-miR-3677-5p	CLIP-seq
MIRT786827	hsa-miR-3915	CLIP-seq
MIRT786828	hsa-miR-3928	CLIP-seq
MIRT786829	hsa-miR-4254	CLIP-seq
MIRT786830	hsa-miR-4260	CLIP-seq
MIRT786831	hsa-miR-4270	CLIP-seq
MIRT786832	hsa-miR-4281	CLIP-seq
MIRT786833	hsa-miR-4436a	CLIP-seq
MIRT786834	hsa-miR-4441	CLIP-seq
MIRT786835	hsa-miR-4481	CLIP-seq
MIRT786836	hsa-miR-4483	CLIP-seq
MIRT786837	hsa-miR-449a	CLIP-seq
MIRT786838	hsa-miR-449b	CLIP-seq
MIRT786839	hsa-miR-449c	CLIP-seq
MIRT786840	hsa-miR-4514	CLIP-seq
MIRT786841	hsa-miR-4651	CLIP-seq
MIRT786842	hsa-miR-4667-3p	CLIP-seq
MIRT786843	hsa-miR-4692	CLIP-seq
MIRT786844	hsa-miR-4712-3p	CLIP-seq
MIRT786845	hsa-miR-4737	CLIP-seq
MIRT786846	hsa-miR-4745-5p	CLIP-seq
MIRT786847	hsa-miR-4758-5p	CLIP-seq
MIRT786848	hsa-miR-4769-3p	CLIP-seq
MIRT786849	hsa-miR-4795-5p	CLIP-seq
MIRT786850	hsa-miR-486-3p	CLIP-seq
MIRT786851	hsa-miR-499-3p	CLIP-seq
MIRT786852	hsa-miR-499a-3p	CLIP-seq
MIRT786853	hsa-miR-513a-5p	CLIP-seq
MIRT786854	hsa-miR-608	CLIP-seq
MIRT786855	hsa-miR-613	CLIP-seq
MIRT786809	hsa-miR-1225-3p	CLIP-seq
MIRT1932052	hsa-miR-1226	CLIP-seq
MIRT786810	hsa-miR-1254	CLIP-seq
MIRT1932053	hsa-miR-1273g	CLIP-seq
MIRT738000	hsa-miR-1291	CLIP-seq
MIRT786811	hsa-miR-1293	CLIP-seq
MIRT786812	hsa-miR-1470	CLIP-seq
MIRT1932054	hsa-miR-151-5p	CLIP-seq
MIRT1932055	hsa-miR-151b	CLIP-seq
MIRT786813	hsa-miR-1539	CLIP-seq
MIRT1932056	hsa-miR-185	CLIP-seq
MIRT1932057	hsa-miR-1909	CLIP-seq
MIRT786815	hsa-miR-1976	CLIP-seq
MIRT1932058	hsa-miR-3065-3p	CLIP-seq
MIRT786819	hsa-miR-3116	CLIP-seq
MIRT786823	hsa-miR-3193	CLIP-seq
MIRT1932059	hsa-miR-323-5p	CLIP-seq
MIRT786824	hsa-miR-34a	CLIP-seq
MIRT786825	hsa-miR-34c-5p	CLIP-seq
MIRT786792	hsa-miR-3941	CLIP-seq
MIRT786829	hsa-miR-4254	CLIP-seq
MIRT786832	hsa-miR-4281	CLIP-seq
MIRT737999	hsa-miR-4292	CLIP-seq
MIRT1932060	hsa-miR-4306	CLIP-seq
MIRT1932061	hsa-miR-4456	CLIP-seq
MIRT786836	hsa-miR-4483	CLIP-seq
MIRT786837	hsa-miR-449a	CLIP-seq
MIRT786838	hsa-miR-449b	CLIP-seq
MIRT1932062	hsa-miR-4644	CLIP-seq
MIRT786795	hsa-miR-466	CLIP-seq
MIRT786842	hsa-miR-4667-3p	CLIP-seq
MIRT786797	hsa-miR-4672	CLIP-seq
MIRT1932063	hsa-miR-4684-3p	CLIP-seq
MIRT786844	hsa-miR-4712-3p	CLIP-seq
MIRT786845	hsa-miR-4737	CLIP-seq
MIRT1932064	hsa-miR-4786-5p	CLIP-seq
MIRT1932065	hsa-miR-485-5p	CLIP-seq
MIRT786804	hsa-miR-556-3p	CLIP-seq
MIRT1932066	hsa-miR-576-3p	CLIP-seq
MIRT1932067	hsa-miR-663b	CLIP-seq
MIRT1932068	hsa-miR-876-3p	CLIP-seq
MIRT2475465	hsa-miR-1205	CLIP-seq
MIRT786809	hsa-miR-1225-3p	CLIP-seq
MIRT1932052	hsa-miR-1226	CLIP-seq
MIRT2475466	hsa-miR-1233	CLIP-seq
MIRT1932053	hsa-miR-1273g	CLIP-seq
MIRT738000	hsa-miR-1291	CLIP-seq
MIRT786811	hsa-miR-1293	CLIP-seq
MIRT1932057	hsa-miR-1909	CLIP-seq
MIRT786782	hsa-miR-1913	CLIP-seq
MIRT786786	hsa-miR-3194-3p	CLIP-seq
MIRT1932059	hsa-miR-323-5p	CLIP-seq
MIRT786787	hsa-miR-324-3p	CLIP-seq
MIRT737998	hsa-miR-378g	CLIP-seq
MIRT737995	hsa-miR-4268	CLIP-seq
MIRT737999	hsa-miR-4292	CLIP-seq
MIRT2475467	hsa-miR-4323	CLIP-seq
MIRT737997	hsa-miR-4437	CLIP-seq
MIRT2475468	hsa-miR-4448	CLIP-seq
MIRT1932061	hsa-miR-4456	CLIP-seq
MIRT786836	hsa-miR-4483	CLIP-seq
MIRT737996	hsa-miR-4674	CLIP-seq
MIRT1932063	hsa-miR-4684-3p	CLIP-seq
MIRT786799	hsa-miR-4749-3p	CLIP-seq
MIRT1932068	hsa-miR-876-3p	CLIP-seq
MIRT2475465	hsa-miR-1205	CLIP-seq
MIRT1932052	hsa-miR-1226	CLIP-seq
MIRT1932053	hsa-miR-1273g	CLIP-seq
MIRT738000	hsa-miR-1291	CLIP-seq
MIRT786811	hsa-miR-1293	CLIP-seq
MIRT1932057	hsa-miR-1909	CLIP-seq
MIRT1932059	hsa-miR-323-5p	CLIP-seq
MIRT737998	hsa-miR-378g	CLIP-seq
MIRT737995	hsa-miR-4268	CLIP-seq
MIRT737999	hsa-miR-4292	CLIP-seq
MIRT737997	hsa-miR-4437	CLIP-seq
MIRT1932061	hsa-miR-4456	CLIP-seq
MIRT786836	hsa-miR-4483	CLIP-seq
MIRT737996	hsa-miR-4674	CLIP-seq
MIRT1932063	hsa-miR-4684-3p	CLIP-seq
MIRT1932068	hsa-miR-876-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0001822	Process	Kidney development	IEA
GO:0005515	Function	Protein binding	IPI	9733768, 23415225, 24843023
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006886	Process	Intracellular protein transport	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007507	Process	Heart development	IEA
GO:0016192	Process	Vesicle-mediated transport	IBA	21873635
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS
GO:0019901	Function	Protein kinase binding	ISS
GO:0030131	Component	Clathrin adaptor complex	IEA
GO:0030276	Function	Clathrin binding	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	TAS
GO:0030665	Component	Clathrin-coated vesicle membrane	IEA
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0050690	Process	Regulation of defense response to virus by virus	TAS

Other IDs

• MIM: 600157
• HGNC: 554
• e!Ensembl: ENSG00000100280

Protein

• UniProt ID: Q10567
• Protein name: AP-1 complex subunit beta-1 (Adaptor protein complex AP-1 subunit beta-1) (Adaptor-related protein complex 1 subunit beta-1) (Beta-1-adaptin) (Beta-adaptin 1) (Clathrin assembly protein complex 1 beta large chain) (Golgi adaptor HA1/AP1 adaptin beta subun
• Protein function: Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes (PubMed:31630791). The AP complexes mediate both the recruitment of clathrin to membranes
• PDB: 4HMY, 4P6Z, 6CM9, 6CRI, 6D83, 6D84, 6DFF, 7R4H, 7UX3, 8D4C, 8D4D, 8D4E, 8D4F, 8D4G, 8D9R, 8D9S, 8D9T, 8D9U, 8D9V, 8D9W
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01602	Adaptin_N	10 → 534	Adaptin N terminal region	Family
  PF02883	Alpha_adaptinC2	720 → 826	Adaptin C-terminal domain	Domain
  PF09066	B2-adapt-app_C	836 → 947	Beta2-adaptin appendage, C-terminal sub-domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed.
• Sequence:

  MTDSKYFTTTKKGEIFELKAELNSDKKEKKKEAVKKVIASMTVGKDVSALFPDVVNCMQT
  DNLELKKLVYLYLMNYAKSQPDMAIMAVNTFVKDCEDPNPLIRALAVRTMGCIRVDKITE
  YLCEPLRKCLKDEDPYVRKTAAVCVAKLHDINAQLVEDQGFLDTLKDLISDSNPMVVANA
  VAALSEIAESHPSSNLLDLNPQSINKLLTALNECTEWGQIFILDCLANYMPKDDREAQSI
  CERVTPRLSHANSAVVLSAVKVLMKFMEMLSKDLDYYGTLLKKLAPPLVTLLSAEPELQY
  VALRNINLIVQKRPEILKHEMKVFFVKYNDPIYVKLEKLDIMIRLASQANIAQVLAELKE
  YATEVDVDFVRKAVRAIGRCAIKVEQSAERCVSTLLDLIQTKVNYVVQEAIVVIKDIFRK
  YPNKYESVIATLCENLDSLDEPEARAAMIWIVGEYAERIDNADELLESFLEGFHDESTQV
  QLQLLTAIVKLFLKKPTETQELVQQVLSLATQDSDNPDLRDRGYIYWRLLSTDPVAAKEV
  VLAEKPLISEETDLIEPTLLDELICYIGTLASVYHKPPSAFVEGGRGVVHKSLPPRTASS
  ESAESPETAPTGAPPGEQPDVIPAQGDLLGDLLNLDLGPPVSGPPLATSSVQMGAVDLLG
  GGLDSLMGDEPEGIGGTNFVAPPTAAVPANLGAPIGSGLSDLFDLTSGVGTLSGSYVAPK
  AVWLPAMKAKGLEISGTFTRQVGSISMDLQLTNKALQVMTDFAIQFNRNSFGLAPATPLQ
  VHAPLSPNQTVEISLPLSTVGSVMKMEPLNNLQVAVKNNIDVFYFSTLYPLHILFVEDGK
  MDRQMFLATWKDIPNENEAQFQIRDCPLNAEAASSKLQSSNIFTVAKRNVEGQDMLYQSL
  KLTNGIWVLAELRIQPGNPSCTDLELSLKCRAPEVSQHVYQAYETILKN

• Sequence length: 949

Pathways

KEGG:

Lysosome
Human immunodeficiency virus 1 infection

Reactome:

Nef mediated downregulation of MHC class I complex cell surface expression
MHC class II antigen presentation
Lysosome Vesicle Biogenesis
Golgi Associated Vesicle Biogenesis

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
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	31630791
Mednik syndrome	MEDNIK syndrome	rs751430853, rs767358930, rs981747624, rs1584203922, rs1310110289
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	31630791

Unknown
Disease term	Disease name	Evidence	References	Source
MEDNIK Syndrome	MEDNIK syndrome			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Stimulate	39838438
Autoimmune enteropathy	Associate	40101690
Charcot Marie Tooth disease Type 1D	Stimulate	39838438
Copper deficiency familial benign	Associate	40101690
Deafness	Associate	31630788, 40101690
Erythrokeratodermia Variabilis 3	Associate	31630791
Failure to Thrive	Associate	31630788
Gout	Associate	39838438
Hearing Loss	Associate	31630788
Hypersensitivity Delayed	Associate	40101690
Ichthyosis	Associate	31630788, 40101690
Intellectual Disability	Associate	36077416
Keratitis	Associate	40101690
Photophobia	Associate	31630788
Rhabdomyosarcoma Alveolar	Associate	36232302
Syndrome	Associate	40101690
Thrombocytopenia	Associate	31630788