BCR (BCR activator of RhoGEF and GTPase)

Gene

• Entrez ID: 613
• Gene name: BCR activator of RhoGEF and GTPase
• Gene symbol: BCR
• Synonyms: ALL, BCR1, CML, D22S11, D22S662, PHL
• 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 name	Disease term	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	rs120074176, 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, rs398123063, 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 name	Disease term	dbSNP ID	References
Ankyloglossia	Ankyloglossia
Aortic valve insufficiency	Aortic Valve Insufficiency
Arachnodactyly	Arachnodactyly
Bipolar disorder	Bipolar Disorder		17239033, 17239488, 17822820, 15866548
Blast phase chronic myelogenous leukemia	Blast Phase		21570118
Blepharophimosis	Blepharophimosis
Bowel incontinence	Fecal Incontinence
Camptodactyly of fingers	Clinodactyly of the 5th finger
Choanal atresia	Choanal Atresia
Chromosome 22q11.2 deletion syndrome	Chromosome 22q11.2 Deletion Syndrome, Distal
Distal 22q11.2 microdeletion syndrome	Distal 22q11.2 microdeletion syndrome
Dwarfism	Dwarfism
Fistula of branchial cleft	Fistula of branchial cleft
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Language disorders	Language Disorders
Mental depression	Depressive disorder, Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	15866548
Microstomia	Microstomia
Myeloid leukemia	Myeloid Leukemia, Chronic, Chronic myeloid leukemia		15604220, 21908430, 18673174
Neoplasms	Neoplasms
Obsessive-compulsive disorder	Obsessive compulsive behavior
Oculomotor apraxia	Oculomotor apraxia
Oculovestibuloauditory syndrome	Oculovestibuloauditory syndrome
Syndactyly of the toes	Syndactyly of the toes
Thrombocytosis	Thrombocytosis
Bladder carcinoma	Transitional cell carcinoma of bladder