ATR (ATR checkpoint kinase)

Gene

• Entrez ID: 545
• Gene name: ATR checkpoint kinase
• Gene symbol: ATR
• Synonyms (NCBI Gene): FCTCS, FRP1, MEC1, SCKL, SCKL1
• Disease Acronyms (UniProt): FCTCS, SCKL1
• Chromosome: 3
• Chromosome location: 3q23
• Summary: The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved in the inhibition of DNA replicat

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28910273	A>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant
rs77208665	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs141783863	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs147895945	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs150008448	T>C	Risk-factor, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, non coding transcript variant
rs199731535	C>A,T	Likely-pathogenic	Splice donor variant
rs387906797	T>C	Pathogenic	Non coding transcript variant, downstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs387907327	C>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs587776690	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant
rs587777851	C>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs587777852	G>C	Pathogenic	Intron variant, genic downstream transcript variant
rs797045403	C>A	Pathogenic	Splice donor variant
rs1481733213	T>C	Likely-pathogenic	Intron variant
rs1553760567	C>T	Likely-pathogenic	Splice donor variant
rs1553761113	C>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1577488520	A>G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1577513795	A>G	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051394	hsa-let-7f-5p	CLASH	23622248
MIRT053599	hsa-miR-185-5p	Flow, Microarray, qRT-PCR, Western blot	23807228
MIRT053599	hsa-miR-185-5p	Flow, Microarray, qRT-PCR, Western blot	23807228
MIRT441143	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441143	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT810375	hsa-miR-132	CLIP-seq
MIRT810376	hsa-miR-212	CLIP-seq
MIRT810377	hsa-miR-383	CLIP-seq
MIRT810378	hsa-miR-3919	CLIP-seq
MIRT810379	hsa-miR-4756-3p	CLIP-seq
MIRT810380	hsa-miR-4772-5p	CLIP-seq
MIRT810381	hsa-miR-539	CLIP-seq
MIRT1939461	hsa-miR-3143	CLIP-seq
MIRT1939462	hsa-miR-4477a	CLIP-seq
MIRT1939463	hsa-miR-4760-5p	CLIP-seq
MIRT1939464	hsa-miR-4803	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000077	Process	DNA damage checkpoint	IBA	21873635
GO:0000077	Process	DNA damage checkpoint	IDA	14657349
GO:0000723	Process	Telomere maintenance	IBA	21873635
GO:0000781	Component	Chromosome, telomeric region	IC	26586433
GO:0003677	Function	DNA binding	IEA
GO:0004672	Function	Protein kinase activity	IDA	14657349
GO:0004674	Function	Protein serine/threonine kinase activity	IBA	21873635
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	9733515, 9925639, 27723717, 27723720
GO:0004674	Function	Protein serine/threonine kinase activity	TAS
GO:0005515	Function	Protein binding	IPI	9733515, 14657349, 17686975, 18583959, 19633697, 19889979, 20616048, 20810650, 20864032, 20930849, 23144622, 27723717, 27723720
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	ISS
GO:0005794	Component	Golgi apparatus	IDA
GO:0006260	Process	DNA replication	TAS
GO:0006281	Process	DNA repair	TAS	8610130
GO:0006974	Process	Cellular response to DNA damage stimulus	IDA	27723717, 27723720
GO:0006974	Process	Cellular response to DNA damage stimulus	TAS	15538388
GO:0007275	Process	Multicellular organism development	TAS	9590286
GO:0008156	Process	Negative regulation of DNA replication	IMP	14657349
GO:0016605	Component	PML body	IDA	12814551
GO:0018105	Process	Peptidyl-serine phosphorylation	IDA	9733515
GO:0031297	Process	Replication fork processing	ISS
GO:0032212	Process	Positive regulation of telomere maintenance via telomerase	ISS
GO:0032405	Function	MutLalpha complex binding	IDA	16713580
GO:0032407	Function	MutSalpha complex binding	IDA	16713580
GO:0034644	Process	Cellular response to UV	IMP	9925639
GO:0036297	Process	Interstrand cross-link repair	TAS
GO:0042493	Process	Response to drug	IEA
GO:0043517	Process	Positive regulation of DNA damage response, signal transduction by p53 class mediator	IMP	9925639
GO:0046777	Process	Protein autophosphorylation	IDA	9733515
GO:0070198	Process	Protein localization to chromosome, telomeric region	IMP	21829167
GO:0071480	Process	Cellular response to gamma radiation	IDA	9925639
GO:0090399	Process	Replicative senescence	IMP	15149599
GO:0097694	Process	Establishment of RNA localization to telomere	IMP	26586433
GO:0097695	Process	Establishment of protein-containing complex localization to telomere	IC	26586433
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106311	Function	Protein threonine kinase activity	IEA
GO:1900034	Process	Regulation of cellular response to heat	TAS
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS
GO:1904884	Process	Positive regulation of telomerase catalytic core complex assembly	IMP	26586433

Other IDs

• MIM: 601215
• HGNC: 882
• e!Ensembl: ENSG00000175054

Protein

• UniProt ID: Q13535
• Protein name: Serine/threonine-protein kinase ATR (EC 2.7.11.1) (Ataxia telangiectasia and Rad3-related protein) (FRAP-related protein 1)
• Protein function: Serine/threonine protein kinase which activates checkpoint signaling upon genotoxic stresses such as ionizing radiation (IR), ultraviolet light (UV), or DNA replication stalling, thereby acting as a DNA damage sensor (PubMed:10597277, PubMed:106
• PDB: 5YZ0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08064	UME	1122 → 1223	UME (NUC010) domain	Domain
  PF02259	FAT	1771 → 2092	FAT domain	Family
  PF00454	PI3_PI4_kinase	2322 → 2567	Phosphatidylinositol 3- and 4-kinase	Family
  PF02260	FATC	2613 → 2644	FATC domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous, with highest expression in testis. {ECO:0000269|PubMed:11470508, ECO:0000269|PubMed:8610130, ECO:0000269|PubMed:8843195}.; TISSUE SPECIFICITY: [Isoform 2]: Isoform 2 is found in pancreas, placenta and liver but not in heart
• Sequence:

  MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTD
  SQPTSVMLLDFIQHIMKSSPLMFVNVSGSHEAKGSCIEFSNWIITRLLRIAATPSCHLLH
  KKICEVICSLLFLFKSKSPAIFGVLTKELLQLFEDLVYLHRRNVMGHAVEWPVVMSRFLS
  QLDEHMGYLQSAPLQLMSMQNLEFIEVTLLMVLTRIIAIVFFRRQELLLWQIGCVLLEYG
  SPKIKSLAISFLTELFQLGGLPAQPASTFFSSFLELLKHLVEMDTDQLKLYEEPLSKLIK
  TLFPFEAEAYRNIEPVYLNMLLEKLCVMFEDGVLMRLKSDLLKAALCHLLQYFLKFVPAG
  YESALQVRKVYVRNICKALLDVLGIEVDAEYLLGPLYAALKMESMEIIEEIQCQTQQENL
  SSNSDGISPKRRRLSSSLNPSKRAPKQTEEIKHVDMNQKSILWSALKQKAESLQISLEYS
  GLKNPVIEMLEGIAVVLQLTALCTVHCSHQNMNCRTFKDCQHKSKKKPSVVITWMSLDFY
  TKVLKSCRSLLESVQKLDLEATIDKVVKIYDALIYMQVNSSFEDHILEDLCGMLSLPWIY
  SHSDDGCLKLTTFAANLLTLSCRISDSYSPQAQSRCVFLLTLFPRRIFLEWRTAVYNWAL
  QSSHEVIRASCVSGFFILLQQQNSCNRVPKILIDKVKDDSDIVKKEFASILGQLVCTLHG
  MFYLTSSLTEPFSEHGHVDLFCRNLKATSQHECSSSQLKASVCKPFLFLLKKKIPSPVKL
  AFIDNLHHLCKHLDFREDETDVKAVLGTLLNLMEDPDKDVRVAFSGNIKHILESLDSEDG
  FIKELFVLRMKEAYTHAQISRNNELKDTLILTTGDIGRAAKGDLVPFALLHLLHCLLSKS
  ASVSGAAYTEIRALVAAKSVKLQSFFSQYKKPICQFLVESLHSSQMTALPNTPCQNADVR
  KQDVAHQREMALNTLSEIANVFDFPDLNRFLTRTLQVLLPDLAAKASPAASALIRTLGKQ
  LNVNRREILINNFKYIFSHLVCSCSKDELERALHYLKNETEIELGSLLRQDFQGLHNELL
  LRIGEHYQQVFNGLSILASFASSDDPYQGPRDIISPELMADYLQPKLLGILAFFNMQLLS
  SSVGIEDKKMALNSLMSLMKLMGPKHVSSVRVKMMTTLRTGLRFKDDFPELCCRAWDCFV
  RCLDHACLGSLLSHVIVALLPLIHIQPKETAAIFHYLIIENRDAVQDFLHEIYFLPDHPE
  LKKIKAVLQEYRKETSESTDLQTTLQLSMKAIQHENVDVRIHALTSLKETLYKNQEKLIK
  YATDSETVEPIISQLVTVLLKGCQDANSQARLLCGECLGELGAIDPGRLDFSTTETQGKD
  FTFVTGVEDSSFAYGLLMELTRAYLAYADNSRAQDSAAYAIQELLSIYDCREMETNGPGH
  QLWRRFPEHVREILEPHLNTRYKSSQKSTDWSGVKKPIYLSKLGSNFAEWSASWAGYLIT
  KVRHDLASKIFTCCSIMMKHDFKVTIYLLPHILVYVLLGCNQEDQQEVYAEIMAVLKHDD
  QHTINTQDIASDLCQLSTQTVFSMLDHLTQWARHKFQALKAEKCPHSKSNRNKVDSMVST
  VDYEDYQSVTRFLDLIPQDTLAVASFRSKAYTRAVMHFESFITEKKQNIQEHLGFLQKLY
  AAMHEPDGVAGVSAIRKAEPSLKEQILEHESLGLLRDATACYDRAIQLEPDQIIHYHGVV
  KSMLGLGQLSTVITQVNGVHANRSEWTDELNTYRVEAAWKLSQWDLVENYLAADGKSTTW
  SVRLGQLLLSAKKRDITAFYDSLKLVRAEQIVPLSAASFERGSYQRGYEYIVRLHMLCEL
  EHSIKPLFQHSPGDSSQEDSLNWVARLEMTQNSYRAKEPILALRRALLSLNKRPDYNEMV
  GECWLQSARVARKAGHHQTAYNALLNAGESRLAELYVERAKWLWSKGDVHQALIVLQKGV
  ELCFPENETPPEGKNMLIHGRAMLLVGRFMEETANFESNAIMKKYKDVTACLPEWEDGHF
  YLAKYYDKLMPMVTDNKMEKQGDLIRYIVLHFGRSLQYGNQFIYQSMPRMLTLWLDYGTK
  AYEWEKAGRSDRVQMRNDLGKINKVITEHTNYLAPYQFLTAFSQLISRICHSHDEVFVVL
  MEIIAKVFLAYPQQAMWMMTAVSKSSYPMRVNRCKEILNKAIHMKKSLEKFVGDATRLTD
  KLLELCNKPVDGSSSTLSMSTHFKMLKKLVEEATFSEILIPLQSVMIPTLPSILGTHANH
  ASHEPFPGHWAYIAGFDDMVEILASLQKPKKISLKGSDGKFYIMMCKPKDDLRKDCRLME
  FNSLINKCLRKDAESRRRELHIRTYAVIPLNDECGIIEWVNNTAGLRPILTKLYKEKGVY
  MTGKELRQCMLPKSAALSEKLKVFREFLLPRHPPIFHEWFLRTFPDPTSWYSSRSAYCRS
  TAVMSMVGYILGLGDRHGENILFDSLTGECVHVDFNCLFNKGETFEVPEIVPFRLTHNMV
  NGMGPMGTEGLFRRACEVTMRLMRDQREPLMSVLKTFLHDPLVEWSKPVKGHSKAPLNET
  GEVVNEKAKTHVLDIEQRLQGVIKTRNRVTGLPLSIEGHVHYLIQEATDENLLCQMYLGW
  TPYM

• Sequence length: 2644

Pathways

KEGG:

Fanconi anemia pathway
Cell cycle
p53 signaling pathway
Cellular senescence
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Human immunodeficiency virus 1 infection

Reactome:

Activation of ATR in response to replication stress
Regulation of HSF1-mediated heat shock response
HDR through Single Strand Annealing (SSA)
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Fanconi Anemia Pathway
TP53 Regulates Transcription of DNA Repair Genes
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Craniosynostosis	Craniosynostosis	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Endometrial carcinoma	Carcinoma in situ of endometrium, Endometrial Carcinoma	rs34612342, rs587776667, rs587776701, rs63750955, rs587776706, rs121434629, rs80359605, rs121913530, rs104894365, rs79184941, rs121913478, rs63750781, rs193922343, rs267608094, rs267608077, rs587779206, rs63750439, rs63751405, rs63750741, rs63750854, rs63750909, rs587779212, rs63749874, rs267608076, rs587779220, rs63750735, rs267608082, rs587779227, rs267608068, rs63750075, rs587779232, rs267608058, rs63751127, rs63750138, rs267608065, rs63751017, rs587779246, rs63750111, rs63750563, rs267608073, rs63751407, rs63749999, rs267608042, rs63750833, rs587779255, rs587779256, rs267608078, rs267608092, rs587779263, rs267608098, rs587779267, rs63750194, rs63751327, rs63751328, rs587779284, rs63749942, rs63751058, rs267608114, rs267608118, rs63751319, rs267608128, rs1553333594, rs267608126, rs63750767, rs267608120, rs267608121, rs267608122, rs63750342, rs63749873, rs587779318, rs63750019, rs63749980, rs267608048, rs1553412283, rs146816935, rs63750855, rs63751711, rs267607789, rs587779094, rs63750224, rs267607972, rs63750084, rs587779185, rs587778617, rs398123231, rs398123232, rs398123318, rs587780021, rs63750119, rs267608064, rs587781490, rs587781558, rs587781691, rs63749821, rs587782111, rs587782326, rs587782704, rs587779264, rs587779333, rs587782712, rs587783056, rs730881825, rs730881827, rs730881829, rs730881830, rs786202193, rs587782281, rs786202848, rs786201049, rs750528093, rs786202108, rs267608083, rs786201050, rs786203924, rs587781544, rs786201084, rs1553333738, rs863224829, rs863225398, rs863225409, rs863225412, rs864622041, rs869312769, rs869312770, rs63751077, rs876661205, rs876661025, rs63749919, rs876661073, rs876661222, rs267608041, rs878853702, rs751326348, rs866260675, rs886039666, rs886044911, rs1057517552, rs1057517764, rs1057517763, rs121909224, rs1057520605, rs1060502885, rs1060502918, rs1060502932, rs587779215, rs1060502937, rs1060502886, rs1060502875, rs1060502881, rs267607939, rs1023534466, rs1064793600, rs1064795256, rs1064795591, rs1064794055, rs1064794164, rs1553414010, rs1064793671, rs1064794302, rs1064793489, rs1064794384, rs1064793781, rs1553333500, rs760190301, rs1114167719, rs1114167776, rs1114167704, rs1114167748, rs1114167731, rs753796271, rs267608055, rs1114167746, rs1114167715, rs587782706, rs1114167750, rs1114167765, rs1114167747, rs786204048, rs1114167707, rs1114167767, rs1114167717, rs1114167783, rs1553412966, rs1553333598, rs587779297, rs1554294505, rs988423880, rs1554306353, rs1553408136, rs1553333321, rs1553408388, rs63749973, rs1553412064, rs1553412120, rs1553826166, rs1553413784, rs1553331242, rs1553414519, rs1564568660, rs1558392033, rs878853704, rs765763906, rs1558663559, rs1572720704, rs63750985, rs1572727440, rs587779253, rs1580538168, rs149350323, rs374133543, rs771721952, rs201033017, rs763478027, rs1475633334, rs1580553624, rs1580553669, rs578113271, rs757194485, rs539295465, rs778610412, rs758191157, rs1580597397, rs1580033751, rs751236312, rs376667075, rs1561486630, rs1561486632, rs777054839, rs1204002507, rs766672143, rs1580091499, rs1386063673, rs1450314617, rs1580027713, rs367544716, rs1488467945, rs1580053768, rs1580553607, rs1572720794, rs1572722039, rs1572723786, rs1572725235, rs1572728112, rs1175196087, rs1572741984, rs1580540688, rs1259647122, rs1580546793, rs1234762807, rs1580556516, rs1669245178, rs1669365820, rs756190979, rs371356175, rs766997264, rs1743353294, rs1379605717, rs770330684, rs1462955256, rs1744356274, rs1480047980, rs1744149615
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Glioma	Glioma	rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499, rs1060500122, rs781647403, rs1060500126, rs1554897889, rs1114167629, rs1114167656, rs587782603, rs1554893824, rs1554900615, rs1564568660, rs786204900, rs762518389, rs1339631701
Lung carcinoma	Squamous cell carcinoma of lung, Large cell carcinoma of lung	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382
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
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Myeloproliferative disorder	Chronic myeloproliferative disorder	rs267606708, rs77375493
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
Ovarian carcinoma	Ovarian Carcinoma	rs62625308, rs137886232, rs397507192, rs80357609, rs397508926, rs80357223, rs80357678, rs587779243, rs587782861, rs747539984, rs876658381
Pancytopenia	Pancytopenia	rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	25415046
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Seckel syndrome	Seckel syndrome, Seckel syndrome 1	rs864321658, rs587776883, rs966888627, rs1349385657, rs1164567042, rs387907327, rs587777614, rs587777851, rs587777852, rs797045403, rs797045452, rs797045450, rs797045449, rs797045448, rs777893196, rs797045447, rs797045454, rs747680111, rs767664526, rs864622784, rs746387482, rs757613817, rs773917653, rs762396810, rs1060499557, rs1131691823, rs1553760567, rs1342429887, rs1553761113, rs1481733213, rs373844676	12640452

Unknown
Disease term	Disease name	Evidence	References	Source
Telangiectasia And Oropharyngeal Cancer Predisposition Syndrome	familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome			GenCC
Seckel Syndrome	Seckel syndrome 1			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Acquired Immunodeficiency Syndrome	Associate	37468905
Adenocarcinoma of Lung	Associate	37762228
Alternating hemiplegia of childhood	Associate	26891131
Amyotrophic Lateral Sclerosis	Associate	31575382
Arrest of spermatogenesis	Associate	37867192
Ataxia Telangiectasia	Associate	10367890, 12576328, 15210935, 15309689, 16014567, 16306615, 16862173, 18025301, 19372558, 19444312, 19584262, 21399625, 21956112, 22948311, 23897887, 24142626, 24443570, 24512718, 25301947, 25809478, 26312826, 26854234, 28031537, 28264028, 30566856, 31708417, 31983282, 33215756, 34933911, 35388070, 35609768, 35879366, 36794257, 7545545, 8824640, 8986766, 9636169
Atherosclerosis	Associate	27740938
ATR X syndrome	Associate	26891131
Autosomal Recessive Primary Microcephaly	Associate	17564965, 18664457, 28464862
Biliary Tract Neoplasms	Associate	29360550
Blepharophimosis	Associate	17564965
Blepharophimosis Ptosis and Epicanthus Inversus	Associate	17564965
Breast Neoplasms	Associate	17010193, 25468710, 25565400, 27472395, 28242626, 29133620, 29396668, 30746633, 31189884, 31441116, 31575382, 36344674, 36539893, 36749285
Breast Neoplasms	Inhibit	32414408
Breast Neoplasms Male	Associate	28808232, 36749285
Carcinogenesis	Associate	23993743, 25483091
Carcinoma Embryonal	Associate	19259937
Carcinoma Hepatocellular	Associate	30315225, 30531861, 35812416
Carcinoma Large Cell	Associate	33172976
Carcinoma Merkel Cell	Associate	25531179
Carcinoma Non Small Cell Lung	Associate	24662920, 25742788, 29849128, 31865638, 33172976, 34103635, 38041093
Carcinoma Ovarian Epithelial	Associate	30640700, 34474677
Carcinoma Pancreatic Ductal	Associate	39368091
Carcinoma Renal Cell	Associate	37527013
Cardiomyopathy Familial Hypertrophic 1	Associate	27432584
Cardiovascular Diseases	Associate	27740938
Chemical and Drug Induced Liver Injury	Associate	25748550
Chondrosarcoma	Associate	36768638, 38442236
Chromosomal Instability	Associate	15309689, 36516748
Chromosomal Instability	Inhibit	29170278
Chromosome Aberrations	Associate	11593014, 23096362, 35741017
Chromosome Disorders	Associate	15314022
Classical Lissencephalies and Subcortical Band Heterotopias	Associate	17564965
Cockayne Syndrome	Associate	18664457
Cognition Disorders	Stimulate	23861893
Colonic Neoplasms	Associate	33318301
Colorectal Neoplasms	Associate	21258400, 26755646, 29194591, 30470507, 31040255, 32689938, 32815531, 35361811, 37237279
Colorectal Neoplasms	Stimulate	29870526
Death	Associate	33811702
Dementia	Associate	23861893
Developmental Disabilities	Associate	22341969
Diabetic Nephropathies	Associate	33335142
Disease	Stimulate	24142626
Disease Progression	Associate	35698045
DNA Repair Deficiency Disorders	Associate	27131875, 36794257
DNA Virus Infections	Associate	12519769, 16702407, 22971344, 24390338, 27129240, 27135971, 28698766, 29338752, 30165463, 31467633, 31649026, 31713291, 35563313, 35606411
DNA Virus Infections	Stimulate	15533933, 28654064
Drug Hypersensitivity	Associate	31506018, 37633920
Drug Related Side Effects and Adverse Reactions	Associate	24726882, 26080835, 26743341, 27177826, 31529615, 34519926, 36794257
Drug Related Side Effects and Adverse Reactions	Stimulate	27690730
Empyema Pleural	Associate	15696190
Epstein Barr Virus Infections	Associate	16827800
Epstein Barr Virus Infections	Stimulate	32917854
Fanconi Anemia	Associate	15314022, 16738325, 19109555, 21659603, 23698467, 23993743, 29976630, 35867033, 38041093
Gallbladder Neoplasms	Associate	33328484, 40259397
Gastrointestinal Stromal Tumors	Associate	27974047
GATA2 Deficiency	Associate	16827800
Genetic Diseases Inborn	Associate	15309689, 22341969
Genomic Instability	Associate	23272087
Glioblastoma	Associate	35301087, 35388070, 35440003, 38227740, 39675575
Glioma	Associate	30796178
Growth Disorders	Associate	17564965, 18664457, 23401567
Head and Neck Neoplasms	Associate	34654328
Hepatitis Alcoholic	Associate	27432584
Hepatitis B	Associate	18763290
Hepatitis B	Stimulate	18985806
Hereditary Breast and Ovarian Cancer Syndrome	Associate	32039725, 35921524
Hidradenitis Suppurativa	Associate	32240121
HIV Infections	Associate	37468905
Hyperoxia	Associate	15533933
Hypoxia	Associate	11865061, 12519769
Hypoxia	Stimulate	30470507
Hypoxia Brain	Associate	11865061, 24688021
Hypoxia Brain	Stimulate	22179839
Inflammation	Associate	27740938, 31529615, 35957613
Inflammation	Inhibit	32788179, 37527013
Kallmann Syndrome	Associate	37378431
Lead Poisoning Nervous System	Associate	32988960
Leukemia	Associate	37967363
Leukemia Myeloid	Associate	31431503
Leukemia Myeloid Acute	Associate	22621920, 24179152, 30296357, 30480765, 37146239, 38164802
Lung Neoplasms	Associate	24441772, 26438152, 28592245, 31865638, 33848478
Lupus Erythematosus Systemic	Associate	36306362
Lymphatic Metastasis	Associate	32917854
Lymphoma Mantle Cell	Associate	25232030
Medulloblastoma	Associate	21652733, 28383788
Melanoma	Associate	22971344, 24416382, 28522871, 29229995
Mesothelioma Malignant	Associate	34008015
Methylmalonic acidemia	Associate	20556797
Microcephalic Osteodysplastic Primordial Dwarfism Type II	Associate	25485589
Microcephaly	Associate	17564965, 18664457, 30846821
Microcephaly Primary Autosomal Recessive 1	Inhibit	11481475
Microsatellite Instability	Associate	26144601, 31530839, 33318301, 35361811
Mitochondrial Diseases	Stimulate	37097390
Mosaic variegated aneuploidy syndrome	Associate	11593014
Multiple Myeloma	Associate	19098271, 25609078, 26080835, 32060401, 37126127
Myelodysplastic Syndromes	Associate	33054116
Nasopharyngeal Carcinoma	Associate	29568064, 32917854
Necrosis	Inhibit	33811702
Neoplasm Metastasis	Stimulate	32917854
Neoplasm Metastasis	Associate	37240218
Neoplasms	Associate	10367890, 11481475, 12519769, 15699047, 17010193, 17387268, 18347191, 19004803, 19403702, 21258400, 22341969, 22713662, 22807682, 22825331, 23284306, 23479505, 24267891, 24512911, 24553354, 24662920, 24726882, 25232030, 25269479, 25301947, 25483091, 25560806, 25593184, 26144601, 26152289, 26544894, 26755646, 26891131, 27135971, 28236344, 28242626, 29157079, 29209046, 29396668, 29870526, 30010936, 30257222, 30374083, 30655289, 30746633, 31529615, 31557599, 31937788, 31963582, 32085572, 32369697, 32414408, 32568634, 32917854, 32988960, 32997669, 33004031, 33137164, 33200197, 33536335, 33788831, 34204447, 34599262, 34933911, 35181726, 35238908, 35361811, 35413091, 35563313, 35606411, 35957613, 36373784, 36749285, 36794257, 37079339, 37240218, 37270643, 37453246, 37756561, 37775817, 37934611, 38041093, 38097586, 38118413, 38254917, 38308949
Neoplasms	Inhibit	35609768
Neoplasms Germ Cell and Embryonal	Associate	26312826
Neoplasms Radiation Induced	Associate	38442236
Neoplasms Squamous Cell	Associate	32560902
Nerve Degeneration	Associate	30846821
Neuroblastoma	Associate	29805983
Neurodevelopmental Disorders	Associate	25301947
Neurologic Manifestations	Associate	10367890
Nijmegen Breakage Syndrome	Associate	18664457
Obesity	Associate	39256343
Oropharyngeal Neoplasms	Associate	22341969
Osteosarcoma	Associate	32033398, 37227155
Ovarian Neoplasms	Associate	22743332, 23548269, 24726882, 24752797, 32553118, 33352723, 34552099, 34837690, 37048111, 37240218, 37349576, 37633920, 38114660, 38635934
Pancreatic Neoplasms	Associate	18381943, 22825331, 28440428, 33039466
Paragangliomas 3	Associate	34654328
Parvoviridae Infections	Stimulate	34878919
Pituitary dwarfism 1	Associate	25485589
Polyomavirus Infections	Associate	22952448
Progeria	Associate	28483909
Prostatic Neoplasms	Associate	23272087, 32127357, 32300177, 32459662, 33176972, 35606411, 35609768, 40532290
Prostatic Neoplasms Castration Resistant	Associate	32606146, 37011019
Prostatitis	Associate	23272087
Ptosis Hereditary Congenital 2	Associate	17564965
Radiation Injuries	Associate	38169561
Recombinant chromosome 8 syndrome	Associate	30293905, 36794257
Rhabdomyosarcoma	Associate	35879366
Rhabdomyosarcoma Alveolar	Associate	35879366
Sarcoma Ewing	Associate	31649026, 37097390, 40478628
Seckel syndrome 1	Associate	15309689, 15314022, 18077418, 18157127, 18664457, 19004803, 19643772, 21633703, 22341969, 23144622, 23401567, 23516378, 25485589, 30846821
Skin Neoplasms	Associate	22807682
Small Cell Lung Carcinoma	Associate	33848478, 35957613, 37491889
Squamous Cell Carcinoma of Head and Neck	Associate	24142626, 24327542, 26152289, 28236344, 30733838, 34204447, 35390246
Stomach Neoplasms	Associate	35078243, 35902562, 36273492
Tooth Abnormalities	Associate	22341969
Triple Negative Breast Neoplasms	Associate	24662920, 29396668
Urinary Bladder Neoplasms	Associate	27246979, 35413091
Uterine Cervical Neoplasms	Associate	25386925, 33537816
Uterine Cervicitis	Associate	25560806
Werner Syndrome	Associate	30657978
Williams Syndrome	Associate	17564965, 28098859
Wilms Tumor	Associate	35184066
Xeroderma Pigmentosum Complementation Group B	Associate	16862173