LSP1 (lymphocyte specific protein 1)

Gene

• Entrez ID: 4046
• Gene name: Lymphocyte specific protein 1
• Gene symbol: LSP1
• Synonyms (NCBI Gene): WP34, pp52
• Chromosome: 11
• Chromosome location: 11p15.5
• Summary: This gene encodes an intracellular F-actin binding protein. The protein is expressed in lymphocytes, neutrophils, macrophages, and endothelium and may regulate neutrophil motility, adhesion to fibrinogen matrix proteins, and transendothelial migration. Al

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018132	hsa-miR-335-5p	Microarray	18185580
MIRT437982	hsa-miR-196a-5p	Luciferase reporter assay	24681820
MIRT437982	hsa-miR-196a-5p	Luciferase reporter assay	24681820
MIRT489821	hsa-miR-6858-3p	PAR-CLIP	20371350
MIRT489819	hsa-miR-4676-5p	PAR-CLIP	20371350
MIRT489818	hsa-miR-575	PAR-CLIP	20371350
MIRT489817	hsa-miR-3918	PAR-CLIP	20371350
MIRT489816	hsa-miR-4685-5p	PAR-CLIP	20371350
MIRT489815	hsa-miR-6837-5p	PAR-CLIP	20371350
MIRT489814	hsa-miR-3656	PAR-CLIP	20371350
MIRT489813	hsa-miR-6781-5p	PAR-CLIP	20371350
MIRT489812	hsa-miR-328-5p	PAR-CLIP	20371350
MIRT489811	hsa-miR-6885-5p	PAR-CLIP	20371350
MIRT489810	hsa-miR-4662a-5p	PAR-CLIP	20371350
MIRT489821	hsa-miR-6858-3p	PAR-CLIP	23592263
MIRT489819	hsa-miR-4676-5p	PAR-CLIP	23592263
MIRT489818	hsa-miR-575	PAR-CLIP	23592263
MIRT489817	hsa-miR-3918	PAR-CLIP	23592263
MIRT489816	hsa-miR-4685-5p	PAR-CLIP	23592263
MIRT489815	hsa-miR-6837-5p	PAR-CLIP	23592263
MIRT489814	hsa-miR-3656	PAR-CLIP	23592263
MIRT489813	hsa-miR-6781-5p	PAR-CLIP	23592263
MIRT489812	hsa-miR-328-5p	PAR-CLIP	23592263
MIRT489811	hsa-miR-6885-5p	PAR-CLIP	23592263
MIRT489810	hsa-miR-4662a-5p	PAR-CLIP	23592263
MIRT489812	hsa-miR-328-5p	PAR-CLIP	26701625
MIRT489814	hsa-miR-3656	PAR-CLIP	26701625
MIRT489817	hsa-miR-3918	PAR-CLIP	26701625
MIRT489810	hsa-miR-4662a-5p	PAR-CLIP	26701625
MIRT489819	hsa-miR-4676-5p	PAR-CLIP	26701625
MIRT489816	hsa-miR-4685-5p	PAR-CLIP	26701625
MIRT489818	hsa-miR-575	PAR-CLIP	26701625
MIRT489813	hsa-miR-6781-5p	PAR-CLIP	26701625
MIRT489815	hsa-miR-6837-5p	PAR-CLIP	26701625
MIRT489821	hsa-miR-6858-3p	PAR-CLIP	26701625
MIRT489811	hsa-miR-6885-5p	PAR-CLIP	26701625
MIRT489821	hsa-miR-6858-3p	PAR-CLIP	20371350
MIRT489819	hsa-miR-4676-5p	PAR-CLIP	20371350
MIRT489818	hsa-miR-575	PAR-CLIP	20371350
MIRT489817	hsa-miR-3918	PAR-CLIP	20371350
MIRT489816	hsa-miR-4685-5p	PAR-CLIP	20371350
MIRT489815	hsa-miR-6837-5p	PAR-CLIP	20371350
MIRT489814	hsa-miR-3656	PAR-CLIP	20371350
MIRT489813	hsa-miR-6781-5p	PAR-CLIP	20371350
MIRT489812	hsa-miR-328-5p	PAR-CLIP	20371350
MIRT489811	hsa-miR-6885-5p	PAR-CLIP	20371350
MIRT489810	hsa-miR-4662a-5p	PAR-CLIP	20371350
MIRT489821	hsa-miR-6858-3p	PAR-CLIP	23592263
MIRT489819	hsa-miR-4676-5p	PAR-CLIP	23592263
MIRT489818	hsa-miR-575	PAR-CLIP	23592263
MIRT489817	hsa-miR-3918	PAR-CLIP	23592263
MIRT489816	hsa-miR-4685-5p	PAR-CLIP	23592263
MIRT489815	hsa-miR-6837-5p	PAR-CLIP	23592263
MIRT489814	hsa-miR-3656	PAR-CLIP	23592263
MIRT489813	hsa-miR-6781-5p	PAR-CLIP	23592263
MIRT489812	hsa-miR-328-5p	PAR-CLIP	23592263
MIRT489811	hsa-miR-6885-5p	PAR-CLIP	23592263
MIRT489810	hsa-miR-4662a-5p	PAR-CLIP	23592263
MIRT1121960	hsa-miR-1231	CLIP-seq
MIRT1121961	hsa-miR-149	CLIP-seq
MIRT1121962	hsa-miR-3064-5p	CLIP-seq
MIRT1121963	hsa-miR-331-3p	CLIP-seq
MIRT1121964	hsa-miR-3652	CLIP-seq
MIRT1121965	hsa-miR-4292	CLIP-seq
MIRT1121966	hsa-miR-4430	CLIP-seq
MIRT1121967	hsa-miR-4505	CLIP-seq
MIRT1121968	hsa-miR-4794	CLIP-seq
MIRT1121969	hsa-miR-4487	CLIP-seq
MIRT1121970	hsa-miR-802	CLIP-seq
MIRT2442332	hsa-miR-1238	CLIP-seq
MIRT2442333	hsa-miR-3124-3p	CLIP-seq
MIRT2442334	hsa-miR-361-3p	CLIP-seq
MIRT2442335	hsa-miR-383	CLIP-seq
MIRT2442336	hsa-miR-4433	CLIP-seq
MIRT2442337	hsa-miR-4459	CLIP-seq
MIRT2442338	hsa-miR-4691-5p	CLIP-seq
MIRT2442339	hsa-miR-4768-3p	CLIP-seq
MIRT2442340	hsa-miR-4772-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP1	Unknown	9257843

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006968	Process	Cellular defense response	TAS	2174784
GO:0007165	Process	Signal transduction	IEA
GO:0015629	Component	Actin cytoskeleton	TAS	8274738
GO:0016020	Component	Membrane	HDA	19946888
GO:0070062	Component	Extracellular exosome	HDA	20458337

Other IDs

• MIM: 153432
• HGNC: 6707
• e!Ensembl: ENSG00000130592

Protein

• UniProt ID: P33241
• Protein name: Lymphocyte-specific protein 1 (47 kDa actin-binding protein) (52 kDa phosphoprotein) (pp52) (Lymphocyte-specific antigen WP34)
• Protein function: May play a role in mediating neutrophil activation and chemotaxis.
• PDB: 3BH8, 4NO0, 4NO2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02029	Caldesmon	159 → 317	Caldesmon	Disordered

• Tissue specificity: TISSUE SPECIFICITY: Activated T-lymphocytes.
• Sequence:

  MAEASSDPGAEEREELLGPTAQWSVEDEEEAVHEQCQHERDRQLQAQDEEGGGHVPERPK
  QEMLLSLKPSEAPELDEDEGFGDWSQRPEQRQQHEGAQGALDSGEPPQCRSPEGEQEDRP
  GLHAYEKEDSDEVHLEELSLSKEGPGPEDTVQDNLGAAGAEEEQEEHQKCQQPRTPSPLV
  LEGTIEQSSPPLSPTTKLIDRTESLNRSIEKSNSVKKSQPDLPISKIDQWLEQYTQAIET
  AGRTPKLARQASIELPSMAVASTKSRWETGEVQAQSAAKTPSCKDIVAGDMSKKSLWEQK
  GGSKTSSTIKSTPSGKRYKFVATGHGKYEKVLVEGGPAP

• Sequence length: 339

Pathways

KEGG:

C-type lectin receptor signaling pathway
Tuberculosis

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	17529967, 23535729, 20453838
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	29059683, 17529967, 25751625, 27117709, 23535729, 20453838
Hypertension	Hypertensive disease	rs13306026	30487518
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	20453838, 17529967
Tumoral calcinosis	Tumoral calcinosis	rs104894343, rs104894344, rs745655924, rs137853086, rs375879489, rs761396172, rs137853087, rs137853091, rs137853088, rs137853089, rs137853090, rs766750282, rs760830864, rs786205250, rs267606841, rs1555096583, rs1220533001, rs762936774, rs775341386	21335463

Unknown
Disease term	Disease name	Evidence	References	Source
Nasopharyngeal carcinoma	Nasopharyngeal carcinoma	These data suggest that KAT7 can contribute NPC cell growth and survival through up-regulation of NPC-essential genes.	20512145	ClinVar, CBGDA
Ulcerative colitis	Ulcerative colitis			GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Heart Failure	Heart Failure			GWAS
Atrial Fibrillation	Atrial Fibrillation			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Arthritis Rheumatoid	Associate	34691030
Breast Neoplasms	Associate	17529967, 18437204, 18612136, 18973230, 19094228, 19656774, 20453838, 20484103, 20605201, 20699374, 21118973, 21194473, 21596841, 21791674, 22045194, 22053997, 22357627, 22454379, 22532573, 22867275, 22910930, 23544014, 23756864, 23893088, 25862352, 25881232, 26191300, 26911390, 27165221, 30078824, 32366738
Carcinoma Hepatocellular	Associate	22326833, 29927686, 37889536
Carotid Body Tumor	Associate	30967136
Colorectal Neoplasms	Associate	32321427
Glioblastoma	Associate	32003759
Glioma	Associate	32003759
Hodgkin Disease	Associate	10233704, 12588355
Inflammation	Associate	22253938
Leukemia	Associate	38511641
Leukemia Myeloid Acute	Associate	29956722, 31015209, 38186215, 38511641, 39952006
Lymphoma	Associate	12588355
Lymphoma B Cell	Associate	12588355
Lymphoma Large Cell Anaplastic	Associate	10233704, 12588355
Lymphoma T Cell	Associate	10233704
Lymphoma T Cell Peripheral	Associate	12588355
Melanoma	Inhibit	9616178
Neoplasms	Associate	10233704, 12588355, 17207284, 21596841, 23577780, 31015209
Neoplasms	Inhibit	27165221
Neoplasms	Stimulate	32003759
Neoplasms Adipose Tissue	Associate	37676424
Neutrophil Actin Dysfunction	Associate	9616178
Neutrophil Immunodeficiency Syndrome	Associate	9616178
Periodontitis	Associate	34925639
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	12588355
Prostatic Neoplasms	Associate	21499820
Urinary Bladder Neoplasms	Associate	24163127
Uterine Cervical Neoplasms	Associate	39206965
Uterine Cervical Neoplasms	Stimulate	40038352
Venous Thromboembolism	Associate	34925639