BCR (BCR activator of RhoGEF and GTPase)

Gene

• Entrez ID: 613
• Gene name: BCR activator of RhoGEF and GTPase
• Gene symbol: BCR
• Synonyms (NCBI Gene): ALL, BCR1, CML, D22S11, D22S662, PHL
• Disease Acronyms (UniProt): ALL, CML
• Chromosome: 22
• Chromosome location: 22q11.23
• Summary: A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The trans

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048049	hsa-miR-197-3p	CLASH	23622248
MIRT047744	hsa-miR-10a-5p	CLASH	23622248
MIRT037631	hsa-miR-744-5p	CLASH	23622248
MIRT037631	hsa-miR-744-5p	CLASH	23622248
MIRT489914	hsa-miR-3141	PAR-CLIP	23592263
MIRT489912	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT489913	hsa-miR-6125	PAR-CLIP	23592263
MIRT489911	hsa-miR-6853-5p	PAR-CLIP	23592263
MIRT489910	hsa-miR-3202	PAR-CLIP	23592263
MIRT489909	hsa-miR-4743-5p	PAR-CLIP	23592263
MIRT489908	hsa-miR-6877-5p	PAR-CLIP	23592263
MIRT489907	hsa-miR-6781-5p	PAR-CLIP	23592263
MIRT489914	hsa-miR-3141	PAR-CLIP	26701625
MIRT489914	hsa-miR-3141	PAR-CLIP	26701625
MIRT489910	hsa-miR-3202	PAR-CLIP	26701625
MIRT489910	hsa-miR-3202	PAR-CLIP	26701625
MIRT489909	hsa-miR-4743-5p	PAR-CLIP	26701625
MIRT489909	hsa-miR-4743-5p	PAR-CLIP	26701625
MIRT489913	hsa-miR-6125	PAR-CLIP	26701625
MIRT489913	hsa-miR-6125	PAR-CLIP	26701625
MIRT489907	hsa-miR-6781-5p	PAR-CLIP	26701625
MIRT489907	hsa-miR-6781-5p	PAR-CLIP	26701625
MIRT489911	hsa-miR-6853-5p	PAR-CLIP	26701625
MIRT489911	hsa-miR-6853-5p	PAR-CLIP	26701625
MIRT489908	hsa-miR-6877-5p	PAR-CLIP	26701625
MIRT489908	hsa-miR-6877-5p	PAR-CLIP	26701625
MIRT489914	hsa-miR-3141	PAR-CLIP	23592263
MIRT489912	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT489913	hsa-miR-6125	PAR-CLIP	23592263
MIRT489911	hsa-miR-6853-5p	PAR-CLIP	23592263
MIRT489910	hsa-miR-3202	PAR-CLIP	23592263
MIRT489909	hsa-miR-4743-5p	PAR-CLIP	23592263
MIRT489908	hsa-miR-6877-5p	PAR-CLIP	23592263
MIRT489907	hsa-miR-6781-5p	PAR-CLIP	23592263
MIRT820317	hsa-miR-298	CLIP-seq
MIRT820318	hsa-miR-3065-5p	CLIP-seq
MIRT820319	hsa-miR-3126-5p	CLIP-seq
MIRT820320	hsa-miR-3130-3p	CLIP-seq
MIRT820321	hsa-miR-3160-3p	CLIP-seq
MIRT820322	hsa-miR-3646	CLIP-seq
MIRT820323	hsa-miR-3667-5p	CLIP-seq
MIRT820324	hsa-miR-3678-3p	CLIP-seq
MIRT820325	hsa-miR-3689a-3p	CLIP-seq
MIRT820326	hsa-miR-3689c	CLIP-seq
MIRT820327	hsa-miR-4265	CLIP-seq
MIRT820328	hsa-miR-4296	CLIP-seq
MIRT820329	hsa-miR-4312	CLIP-seq
MIRT820330	hsa-miR-4322	CLIP-seq
MIRT820331	hsa-miR-4419a	CLIP-seq
MIRT820332	hsa-miR-4428	CLIP-seq
MIRT820333	hsa-miR-4487	CLIP-seq
MIRT820334	hsa-miR-4510	CLIP-seq
MIRT820335	hsa-miR-4642	CLIP-seq
MIRT820336	hsa-miR-4648	CLIP-seq
MIRT820337	hsa-miR-4654	CLIP-seq
MIRT820338	hsa-miR-4668-3p	CLIP-seq
MIRT820339	hsa-miR-4709-5p	CLIP-seq
MIRT820340	hsa-miR-4720-5p	CLIP-seq
MIRT820341	hsa-miR-4728-5p	CLIP-seq
MIRT820342	hsa-miR-4769-5p	CLIP-seq
MIRT820343	hsa-miR-4793-3p	CLIP-seq
MIRT820344	hsa-miR-4799-3p	CLIP-seq
MIRT820345	hsa-miR-544	CLIP-seq
MIRT820346	hsa-miR-548c-3p	CLIP-seq
MIRT820347	hsa-miR-558	CLIP-seq
MIRT820348	hsa-miR-660	CLIP-seq
MIRT820349	hsa-miR-1267	CLIP-seq
MIRT820350	hsa-miR-1297	CLIP-seq
MIRT820351	hsa-miR-1304	CLIP-seq
MIRT820352	hsa-miR-1324	CLIP-seq
MIRT820353	hsa-miR-1827	CLIP-seq
MIRT820354	hsa-miR-26a	CLIP-seq
MIRT820355	hsa-miR-26b	CLIP-seq
MIRT820356	hsa-miR-3166	CLIP-seq
MIRT820357	hsa-miR-3614-3p	CLIP-seq
MIRT820358	hsa-miR-3689d	CLIP-seq
MIRT820359	hsa-miR-4459	CLIP-seq
MIRT820360	hsa-miR-4465	CLIP-seq
MIRT820361	hsa-miR-4687-3p	CLIP-seq
MIRT820362	hsa-miR-4722-5p	CLIP-seq
MIRT820363	hsa-miR-555	CLIP-seq
MIRT820364	hsa-miR-940	CLIP-seq
MIRT1942419	hsa-miR-1207-5p	CLIP-seq
MIRT1942420	hsa-miR-1909	CLIP-seq
MIRT1942421	hsa-miR-1914	CLIP-seq
MIRT1942422	hsa-miR-204	CLIP-seq
MIRT1942423	hsa-miR-211	CLIP-seq
MIRT1942424	hsa-miR-2355-5p	CLIP-seq
MIRT1942425	hsa-miR-3180-5p	CLIP-seq
MIRT1942426	hsa-miR-4488	CLIP-seq
MIRT1942427	hsa-miR-4688	CLIP-seq
MIRT1942428	hsa-miR-4697-5p	CLIP-seq
MIRT1942429	hsa-miR-4704-3p	CLIP-seq
MIRT1942430	hsa-miR-4713-5p	CLIP-seq
MIRT1942431	hsa-miR-4755-3p	CLIP-seq
MIRT1942432	hsa-miR-4755-5p	CLIP-seq
MIRT1942433	hsa-miR-4763-3p	CLIP-seq
MIRT1942434	hsa-miR-483-3p	CLIP-seq
MIRT1942435	hsa-miR-486-3p	CLIP-seq
MIRT1942436	hsa-miR-548t	CLIP-seq
MIRT1942437	hsa-miR-623	CLIP-seq
MIRT1942438	hsa-miR-637	CLIP-seq
MIRT2181123	hsa-miR-181a	CLIP-seq
MIRT2181124	hsa-miR-181b	CLIP-seq
MIRT2181125	hsa-miR-181c	CLIP-seq
MIRT2181126	hsa-miR-181d	CLIP-seq
MIRT2181127	hsa-miR-198	CLIP-seq
MIRT2181128	hsa-miR-2110	CLIP-seq
MIRT2181129	hsa-miR-219-5p	CLIP-seq
MIRT2181130	hsa-miR-3150a-3p	CLIP-seq
MIRT2181131	hsa-miR-3173-3p	CLIP-seq
MIRT2181132	hsa-miR-3175	CLIP-seq
MIRT2181133	hsa-miR-3190	CLIP-seq
MIRT2181134	hsa-miR-3675-5p	CLIP-seq
MIRT2181135	hsa-miR-3911	CLIP-seq
MIRT2181136	hsa-miR-3918	CLIP-seq
MIRT2181137	hsa-miR-4262	CLIP-seq
MIRT2181138	hsa-miR-4271	CLIP-seq
MIRT2181139	hsa-miR-4533	CLIP-seq
MIRT2181140	hsa-miR-4685-5p	CLIP-seq
MIRT2181141	hsa-miR-4725-3p	CLIP-seq
MIRT820341	hsa-miR-4728-5p	CLIP-seq
MIRT2181142	hsa-miR-4734	CLIP-seq
MIRT2181143	hsa-miR-4747-5p	CLIP-seq
MIRT2181144	hsa-miR-4782-3p	CLIP-seq
MIRT2181145	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	1657398
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	7479768
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IMP	23940119
GO:0005096	Function	GTPase activator activity	IDA	1903516, 7479768
GO:0005515	Function	Protein binding	IPI	8112292, 8955135, 8995379, 9174058, 9178913, 10887132, 16169070, 20962234, 21706016, 22153077, 25241761, 25331951, 28514442
GO:0005524	Function	ATP binding	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006468	Process	Protein phosphorylation	TAS	1657398
GO:0007165	Process	Signal transduction	TAS	1657398
GO:0007264	Process	Small GTPase mediated signal transduction	IMP	23940119
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA	21873635
GO:0016301	Function	Kinase activity	TAS
GO:0019899	Function	Enzyme binding	IEA
GO:0030216	Process	Keratinocyte differentiation	IMP	23940119
GO:0030424	Component	Axon	IEA
GO:0032991	Component	Protein-containing complex	IDA	23382219
GO:0035023	Process	Regulation of Rho protein signal transduction	IMP	23940119
GO:0043197	Component	Dendritic spine	IEA
GO:0046777	Process	Protein autophosphorylation	IEA
GO:0048008	Process	Platelet-derived growth factor receptor signaling pathway	IEA
GO:0048041	Process	Focal adhesion assembly	IMP	23940119
GO:0050804	Process	Modulation of chemical synaptic transmission	ISS
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0090630	Process	Activation of GTPase activity	IDA	7479768
GO:0090630	Process	Activation of GTPase activity	IMP	23940119
GO:0098685	Component	Schaffer collateral - CA1 synapse	ISS
GO:0098978	Component	Glutamatergic synapse	ISS
GO:0099092	Component	Postsynaptic density, intracellular component	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106311	Function	Protein threonine kinase activity	IEA

Other IDs

• MIM: 151410
• HGNC: 1014
• e!Ensembl: ENSG00000186716

Protein

• UniProt ID: P11274
• Protein name: Breakpoint cluster region protein (EC 2.7.11.1) (Renal carcinoma antigen NY-REN-26)
• Protein function: Protein with a unique structure having two opposing regulatory activities toward small GTP-binding proteins. The C-terminus is a GTPase-activating protein (GAP) domain which stimulates GTP hydrolysis by RAC1, RAC2 and CDC42. Accelerates the intr
• PDB: 1K1F, 2AIN, 5N6R, 5N7E, 5OC7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09036	Bcr-Abl_Oligo	3 → 75	Bcr-Abl oncoprotein oligomerisation domain	Domain
  PF00621	RhoGEF	502 → 689	RhoGEF domain	Domain
  PF19057	PH_19	698 → 822		Domain
  PF00168	C2	911 → 1017	C2 domain	Domain
  PF00620	RhoGAP	1068 → 1220	RhoGAP domain	Domain

• Sequence:

  MVDPVGFAEAWKAQFPDSEPPRMELRSVGDIEQELERCKASIRRLEQEVNQERFRMIYLQ
  TLLAKEKKSYDRQRWGFRRAAQAPDGASEPRASASRPQPAPADGADPPPAEEPEARPDGE
  GSPGKARPGTARRPGAAASGERDDRGPPASVAALRSNFERIRKGHGQPGADAEKPFYVNV
  EFHHERGLVKVNDKEVSDRISSLGSQAMQMERKKSQHGAGSSVGDASRPPYRGRSSESSC
  GVDGDYEDAELNPRFLKDNLIDANGGSRPPWPPLEYQPYQSIYVGGMMEGEGKGPLLRSQ
  STSEQEKRLTWPRRSYSPRSFEDCGGGYTPDCSSNENLTSSEEDFSSGQSSRVSPSPTTY
  RMFRDKSRSPSQNSQQSFDSSSPPTPQCHKRHRHCPVVVSEATIVGVRKTGQIWPNDGEG
  AFHGDADGSFGTPPGYGCAADRAEEQRRHQDGLPYIDDSPSSSPHLSSKGRGSRDALVSG
  ALESTKASELDLEKGLEMRKWVLSGILASEETYLSHLEALLLPMKPLKAAATTSQPVLTS
  QQIETIFFKVPELYEIHKEFYDGLFPRVQQWSHQQRVGDLFQKLASQLGVYRAFVDNYGV
  AMEMAEKCCQANAQFAEISENLRARSNKDAKDPTTKNSLETLLYKPVDRVTRSTLVLHDL
  LKHTPASHPDHPLLQDALRISQNFLSSINEEITPRRQSMTVKKGEHRQLLKDSFMVELVE
  GARKLRHVFLFTDLLLCTKLKKQSGGKTQQYDCKWYIPLTDLSFQMVDELEAVPNIPLVP
  DEELDALKIKISQIKNDIQREKRANKGSKATERLKKKLSEQESLLLLMSPSMAFRVHSRN
  GKSYTFLISSDYERAEWRENIREQQKKCFRSFSLTSVELQMLTNSCVKLQTVHSIPLTIN
  KEDDESPGLYGFLNVIVHSATGFKQSSNLYCTLEVDSFGYFVNKAKTRVYRDTAEPNWNE
  EFEIELEGSQTLRILCYEKCYNKTKIPKEDGESTDRLMGKGQVQLDPQALQDRDWQRTVI
  AMNGIEVKLSVKFNSREFSLKRMPSRKQTGVFGVKIAVVTKRERSKVPYIVRQCVEEIER
  RGMEEVGIYRVSGVATDIQALKAAFDVNNKDVSVMMSEMDVNAIAGTLKLYFRELPEPLF
  TDEFYPNFAEGIALSDPVAKESCMLNLLLSLPEANLLTFLFLLDHLKRVAEKEAVNKMSL
  HNLATVFGPTLLRPSEKESKLPANPSQPITMTDSWSLEVMSQVQVLLYFLQLEAIPAPDS
  KRQSILFSTEV

• Sequence length: 1271

Pathways

KEGG:

Pathways in cancer
Chronic myeloid leukemia

Reactome:

Signaling by cytosolic FGFR1 fusion mutants
Rho GTPase cycle
Signaling by FGFR1 in disease

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Aortic aneurysm	Aortic Aneurysm	rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953, rs794728021, rs8046180, rs797045725, rs876657852, rs878854466, rs886038978, rs746972765, rs886039303, rs886040965, rs886040966, rs886040967, rs886229659, rs1553781304, rs1060502531, rs1553795301, rs1553803235, rs1213452826, rs869025352, rs1553780501, rs1553785222, rs1382893400, rs1554841990, rs1430822242, rs1567692384, rs1576422965, rs1596712899, rs2059732940, rs2041090817, rs1439991530
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Burkitt`s lymphoma	Burkitt Lymphoma	rs28933407, rs121918683, rs121918684	23491079
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
Tourette syndrome	Behavioral tic	rs193302861, rs191284403, rs267606861
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Lymphoblastic leukemia	Childhood Acute Lymphoblastic Leukemia, L2 Acute Lymphoblastic Leukemia, Precursor B-cell lymphoblastic leukemia, B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1, Precursor B-cell acute lymphoblastic leukemia, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma, Precursor Cell Lymphoblastic Leukemia Lymphoma, Precursor T-cell acute lymphoblastic leukemia	rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591	23491079
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	Myeloproliferative disease	rs267606708, rs77375493	22875613
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137
Persistent truncus arteriosus	Truncus Arteriosus, Persistent	rs267606914, rs1598737972, rs387906813
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Depressive disorder, Unipolar Depression, Major Depressive Disorder		15866548	ClinVar
Coenzyme Q10 Deficiency	Coenzyme Q10 Deficiency			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Abnormalities Drug Induced	Stimulate	19563513
Abnormalities Multiple	Associate	36947335
Acute Disease	Associate	8642285
Agammaglobulinemia	Associate	21693761
Agnosia	Associate	2157692, 3495303
Agranulocytosis	Associate	36912524
Alzheimer Disease	Associate	31666081
Anemia Sickle Cell	Associate	34625105
Arthritis Rheumatoid	Associate	28850672, 29628928, 31882654
Autoimmune Diseases	Associate	31616406
Bipolar Disorder	Associate	32747715
Blast Crisis	Associate	15050919, 16304379, 19048492, 19563513, 29022901, 3085701
Blast Injuries	Associate	25916436
Bone Marrow Failure Disorders	Associate	2403827
Breast Neoplasms	Associate	25287138, 31811234, 35317849
Burkitt Lymphoma	Associate	10438726, 11027651, 12594826, 27155012, 28064214, 29669863, 30617194, 34160140
Carcinogenesis	Stimulate	29022901
Carcinogenesis	Associate	33591648, 34104084
Carcinoma Adenosquamous	Associate	31958074
Carcinoma Hepatocellular	Associate	32955083
Carcinoma Non Small Cell Lung	Associate	33751180
Carcinoma Renal Cell	Associate	31098421
Cardiovascular Diseases	Associate	38067150
Cell Transformation Viral	Associate	22183070
Central Nervous System Diseases	Associate	28451802
Central Nervous System Infections	Associate	28451802
Chromosome Aberrations	Stimulate	21203397
Chromosome Aberrations	Associate	32404952, 36448578, 36965231
Chronic Disease	Associate	21318952
Colitis Ulcerative	Associate	23825635
Colorectal Neoplasms	Associate	23825635
Common Variable Immunodeficiency	Associate	21287551
COVID 19	Associate	34015809, 35501302
Cytokine Release Syndrome	Associate	37620910
Death	Associate	12365015, 25692130
Diabetes Mellitus Type 1	Associate	22105996, 40117290
Diarrhea	Associate	26537529
DiGeorge Syndrome	Associate	2339689
Down Syndrome	Associate	25049327
Emanuel syndrome	Stimulate	18156492, 23642027, 37510256
Emanuel syndrome	Associate	33433047
Eosinophilia	Associate	20955401, 33022638, 36698221
Exanthema	Associate	28224300
Fanconi Anemia	Associate	21203397
Fatigue	Associate	28224300, 30419862
Gallstones	Associate	24083370
Glioblastoma	Associate	30936198
Glioma	Associate	30936198
Glomerulonephritis IGA	Associate	29568935
Hematologic Neoplasms	Associate	12893773, 15389905, 19135771, 20417861, 2224129, 23637631, 2563665
Hepatitis B	Associate	23107779, 32859541, 33890726
Holoprosencephaly recurrent infections and monocytosis	Associate	33022638
Hypersensitivity Immediate	Associate	12594826
Hypertension Pulmonary	Associate	37730603
Hypertensive Retinopathy	Associate	26628310
Hypoxia	Stimulate	21071498
Hypoxia	Inhibit	21347297
Immunologic Deficiency Syndromes	Associate	36947335
Inflammation	Associate	33372148, 34638557
Influenza Human	Associate	24755693, 37542407
Leukemia	Associate	10682862, 10688835, 12594572, 12642693, 12881321, 12893773, 14993251, 15039284, 15042680, 15502840, 15939795, 16042351, 16141323, 16393970, 1705008, 17218385, 17294703, 17325341, 18339898, 1932752, 19387007, 1985690, 1985699, 20697350, 21552520, 21680795, 21887305, 2224129, 22693568, 23180012, 23233201, 23269287, 23965958, 2415665, 24339928, 24349524, 25132497, 25919613, 26017033, 2601719, 26147002, 2614751, 26375673, 2683759, 27167108, 28202504, 28522576, 28836580, 28902850, 29967475, 29976745, 30049824, 30076949, 30281597, 3101769, 31318870, 31349760, 31594548, 31638195, 3164635, 3179449, 31817063, 31977890, 31980503, 32638549, 33356083, 33429764, 34638557, 35239999, 35906470, 35963522, 35999358, 36535407, 36595475, 36959211, 37510256, 37554265, 7606002, 8259165, 8609065, 8642285, 9808573
Leukemia B Cell	Associate	34625105
Leukemia Biphenotypic Acute	Associate	10936868, 19138562, 21623761, 24729118, 26887044, 29531323, 3164571, 32150610, 32378810, 33361731, 33781217, 33808300, 33890726, 34049715, 35484682, 36219502, 36965095, 37116143
Leukemia Hairy Cell	Associate	18540961
Leukemia Lymphocytic Chronic B Cell	Associate	11529849, 11736939, 12060123, 12202756, 12920036, 15057307, 15540985, 15613544, 16284673, 16487173, 16487179, 16939497, 17003377, 17090304, 17408402, 18292287, 18487510, 18537972, 19387007, 19563513, 21209908, 21275954, 21382019, 21509766, 22058195, 22372463, 22613791, 23252482, 23521501, 23742949, 23799845, 23844084, 23922242, 24489640, 24719462, 24817955, 24903628, 25036192, 25329694, 25632006, 25712455, 25919613, 26136429, 26179066, 26220042, 26628310, 26717038, 27059597, 27061824, 27198500, 27534555, 27693386, 28011673, 28467808, 29974949, 30526517, 3107980, 32037516, 32047037, 33131249, 33361712, 33903307, 35742831, 36077209, 36287227, 36847709, 36912524, 37466373, 37496024, 39731492, 7620163, 9136945, 9792313
Leukemia Lymphocytic Chronic B Cell	Stimulate	35358275
Leukemia Lymphoma Adult T Cell	Associate	35574218
Leukemia Megakaryoblastic Acute	Associate	22075327, 34053988
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	10339507, 10390193, 10398316, 10468608, 10480429, 10498589, 10583263, 10629574, 10682862, 10794714, 10907639, 10973491, 11122114, 11175620, 11290604, 11369654, 11739186, 11779872, 11964322, 12015767, 12075749, 12365015, 12511422, 12594572, 12663642, 12829606, 12920036, 1371078, 1372840, 1421402, 14525781, 14657955, 14976047, 14976243, 15050919, 15188002, 15389905, 15502840, 15674360, 15713800, 15744351, 15949566, 16258220, 16291594, 16293596, 16393970, 16418324, 16585609, 16891454, 1705008, 17090304, 1728316, 17294703, 17384214, 17387388, 17998637, 18024796, 1823362, 18534064, 18612408, 1868241, 18757400, 18818391, 19020542, 19048492, 19131339, 19136943, 19141860, 1932752, 19344397, 19366796, 19602047, 20082691, 20413659, 20500819, 20557306, 20558931, 2070054, 21071498, 21072043, 21156844, 21203397, 21233313, 21299849, 21357704, 21381013, 2157692, 21739181, 2175222, 2205309, 22067393, 22183070, 22208485, 22210874, 2224129, 22493660, 22517119, 22549445, 22641215, 22693568, 22749885, 22833150, 22904675, 22989955, 23180012, 23223358, 23233201, 2337672, 23441067, 23580760, 23599815, 23625575, 23637631, 23642027, 23894305, 23965958, 2403827, 2407300, 2415665, 24262285, 24301757, 24339928, 24349524, 24373969, 24389534, 24460325, 2449925, 24550512, 2458151, 24619861, 24629639, 24779036, 24837466, 24998540, 25061833, 25134459, 25203717, 25333252, 25367136, 25387678, 25500442, 25530131, 25573989, 25629972, 2567002, 25721898, 25802333, 25880391, 25919613, 25987039, 2601719, 26072332, 26118315, 26147002, 2614751, 26187587, 26194865, 26225665, 26291129, 26291130, 26603839, 26637730, 2665860, 26722450, 26773037, 26799612, 2683759, 2684296, 26980736, 27013275, 27109508, 27111338, 27145281, 27214026, 27273956, 2730954, 27485109, 27577607, 27658269, 27852045, 27884201, 2788468, 27965460, 28049640, 28135325, 28224300, 28253536, 28278193, 28331056, 28404889, 28437552, 28466557, 28596283, 28602946, 28639894, 28836580, 28902850, 29022901, 29121435, 2920204, 2930839, 2930840, 29327708, 29500381, 29559564, 29633732, 29915172, 29936783, 30049824, 30076949, 30082224, 30171671, 30189101, 3023859, 30357754, 3038213, 30419862, 30675008, 3085701, 30897165, 30950237, 3101769, 31026597, 31122263, 31136068, 31318870, 31349760, 31518872, 31594548, 31638195, 3164635, 3165301, 31759365, 3179449, 31817063, 31862911, 31877211, 31953021, 32037516, 32111748, 32239758, 32354950, 32404952, 32688056, 32711426, 32780298, 32879093, 32971032, 32974613, 33003326, 33022638, 33243265, 33647814, 33769465, 33862181, 33893334, 33944660, 34253692, 34477162, 34506622, 34561421, 3465378, 34673425, 3477472, 3478105, 3495303, 35131002, 35296447, 35298544, 35358275, 35421941, 35468180, 35491124, 35543309, 35751859, 35887063, 35903038, 35906470, 36155130, 36195570, 36290845, 36307214, 36354705, 36535407, 3670297, 36864712, 36869331, 36871092, 36951160, 36959211, 37012292, 37026766, 37212909, 37231781, 37373266, 37510256, 37530356, 37875583, 40156407, 7532038, 7679000, 7718887, 8142658, 8144670, 8195713, 8204872, 8259165, 8417787, 8453102, 8463127, 8490164, 8562932, 8611708, 8639848, 8822931, 8822945, 8839830, 8874208, 9054670, 9195915, 9207469, 9558393, 9680367, 9716603, 9834240, 9845542, 9864172, 9886327
Leukemia Myelogenous Chronic BCR ABL Positive	Stimulate	21500096, 25485495, 34638557
Leukemia Myeloid	Associate	16042351, 30049824
Leukemia Myeloid Acute	Associate	12920036, 16304046, 1985699, 21275954, 23519513, 23806810, 26017033, 2678002, 26802623, 2930840, 3164571, 32859541, 32871908, 33433047, 33647814, 34053988, 35574218, 36307214, 37895120, 7565761, 8562932, 9233586, 9266939, 9808573
Leukemia Myeloid Chronic Phase	Associate	2684296, 28550414, 31638195
Leukemia Myelomonocytic Chronic	Associate	9233586
Leukemia Myelomonocytic Juvenile	Associate	27061824
Leukemia Neutrophilic Chronic	Associate	9038742, 9886327
Leukemia Prolymphocytic T Cell	Associate	28419476, 29196709, 29665227
Leukemia T Cell	Associate	11380477, 16156854, 24365090, 31439673, 9266939, 9886327
Leukemic Infiltration	Associate	39742285
Leukocytosis	Associate	28437552
Lichen Planus	Associate	37090715
Lung Neoplasms	Inhibit	17459062
Lupus Erythematosus Systemic	Associate	19380809, 31616406, 35092307
Lymphoma	Associate	16809616, 19828640, 20543139, 27166259, 31439673, 33591648, 36698221, 36881367
Lymphoma B Cell	Associate	25784678, 36336127
Lymphoma B Cell Marginal Zone	Associate	20511668, 25381127
Lymphoma Follicular	Associate	20543139, 25784678, 31042459, 37899130, 38096368, 39501370
Lymphoma Large B Cell Diffuse	Associate	17360630, 27166259, 27737507, 37141112
Lymphoma Mantle Cell	Associate	31534006
Lymphoma Non Hodgkin	Associate	28011673
Malaria Cerebral	Associate	31666081
Multiple Myeloma	Associate	11356834
Multiple Sclerosis	Associate	39551364
Myasthenia Gravis	Associate	20104489
Myelocytic leukemia like syndrome familial chronic	Associate	8562932
Myelodysplastic Myeloproliferative Diseases	Associate	22511494
Myelodysplastic Syndromes	Associate	12898186, 36307214, 9266939
Myeloproliferative Disorders	Associate	16225651, 17249502, 18757400, 21318952, 22511494, 23519513, 23599815, 26291129, 29500381, 33541399, 34493159, 35574218, 7565761, 9038742
Myositis Inclusion Body	Associate	37171806
Nasal Polyps	Associate	34050324
Nasopharyngitis	Associate	28224300
Neoplasm Residual	Associate	27235138, 33361712
Neoplasms	Associate	14726674, 17218385, 19466975, 19822752, 20417861, 20543139, 21732333, 22041356, 22087308, 22460584, 23349688, 23872309, 23978506, 23986553, 24626299, 25183062, 25287138, 25932444, 26291129, 27447873, 27739437, 28253536, 28406068, 28495918, 28559287, 28990497, 29022901, 29327708, 29611379, 29669863, 30040819, 31042459, 31587259, 32045476, 32279331, 32296029, 32319601, 33022638, 33751180, 33789164, 34506622, 34697168, 34923994, 35938951, 36481914, 36698221, 36864712, 36965231, 37179366, 37233774, 37392167, 37681349, 38096368, 8609065
Neoplasms	Stimulate	22999459
Neoplasms Cystic Mucinous and Serous	Associate	31098421
Nervous System Diseases	Associate	26015512
Neural Tube Defects	Associate	7565761
Parkinson Disease	Associate	35250991
Personality Disorders	Associate	24489640
Philadelphia Chromosome	Associate	11175620, 12447959, 12879429, 16284673, 17090304, 1728316, 17998637, 17998739, 1932752, 20082691, 20558931, 21275954, 21535879, 2157692, 21739181, 21960589, 22058195, 22749885, 23180012, 23233201, 23521501, 24349524, 24727818, 24903628, 2498881, 25132497, 25337274, 25415187, 2563665, 2567002, 2587217, 25919613, 26375673, 26637730, 2730954, 28224300, 2833755, 29047122, 2930839, 29967475, 3085701, 3101769, 31136068, 3165197, 3179449, 3194194, 33206758, 33419251, 33647814, 34115047, 34210682, 34477162, 34625105, 3477472, 35239999, 35296447, 35900551, 35906470, 35999358, 36307214, 36354705, 36448578, 36912524, 37819686, 7479768, 7724587, 8453102, 8562932, 8611708, 8756076, 8822945, 9136945, 9558393, 9886327
Philadelphia Chromosome	Stimulate	29633732, 30076949, 31638195, 34053988
Polycythemia	Associate	26187587
Polycythemia Vera	Associate	26187587, 29611379
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	20063526, 22848414, 23107779, 23974192, 24366361, 25273558, 27447561, 27860260, 27894077, 28063722, 29330417, 30936193, 31944572, 32111748, 32332702, 34210682
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	10682862, 11779872, 11964322, 12447959, 12791662, 15713800, 15744351, 1705008, 17485517, 17623090, 19589926, 20063526, 20534699, 21299849, 21694468, 21738341, 21822204, 21960589, 22031455, 22359517, 22693568, 22749885, 23065506, 23107779, 23148371, 23153538, 23212523, 23233201, 23937105, 24077846, 24816234, 25049327, 25261097, 25273558, 25415187, 2567002, 2587217, 25895498, 26017033, 2678002, 26883104, 26887044, 26980736, 27198500, 27447561, 27860260, 27894077, 2833755, 28451802, 28779753, 29220871, 2930839, 2930840, 29330417, 30181314, 30262461, 30675008, 31136068, 3118359, 31349760, 31594548, 3165301, 3179449, 31817063, 31885183, 31894899, 32150610, 32332702, 32378810, 32852239, 33206758, 33419251, 33769465, 33814500, 33890726, 33895809, 34115047, 34210682, 34403880, 34617433, 34625105, 34661138, 35061886, 35123463, 35906470, 36194587, 36307214, 36448578, 36698221, 36912524, 37819686, 8490164, 8562932, 9054670, 9233586, 9345054, 9886327
Precursor Cell Lymphoblastic Leukemia Lymphoma	Stimulate	32111748
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	11121477, 21623761, 23519513, 23521501, 24729118, 27198500, 29047122, 2911461, 29675955, 30936193, 33879827, 9886327
Primary Myelofibrosis	Associate	1372840, 33541399, 34506622
Prostatic Neoplasms	Associate	37176106, 37179366, 37270661
Protein Deficiency	Associate	36947335
Pruritus	Associate	28224300
Pulmonary Arterial Hypertension	Associate	37730603
Respiratory Tract Diseases	Associate	37925496
Sarcoma Ewing	Associate	23441188
Sertoli Cell Only Syndrome	Associate	37141112
Sezary Syndrome	Associate	17768128, 27039262
Shoulder Pain	Associate	33126303
Sjogren's Syndrome	Associate	29073352, 35705251
Sleep Wake Disorders	Inhibit	12511422
Spinal Cord Diseases	Stimulate	31953021
Syndrome	Associate	11050005
Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities	Associate	37156894
Thrombocytosis	Associate	28437552, 34477162, 36354705
Tinnitus	Associate	32747715
Typical Teratoid Rhabdoid Tumor	Inhibit	15779233
Vitiligo	Associate	28129744
Xeroderma pigmentosum variant type	Associate	15050919