KRT18 (keratin 18)

Gene

• Entrez ID: 3875
• Gene name: Keratin 18
• Gene symbol: KRT18
• Synonyms (NCBI Gene): CK-18, CYK18, K18
• Chromosome: 12
• Chromosome location: 12q13.13
• Summary: KRT18 encodes the type I intermediate filament chain keratin 18. Keratin 18, together with its filament partner keratin 8, are perhaps the most commonly found members of the intermediate filament gene family. They are expressed in single layer epithelial

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023274	hsa-miR-122-5p	Proteomics	17612493
MIRT029677	hsa-miR-26b-5p	Microarray	19088304
MIRT1101167	hsa-miR-1976	CLIP-seq
MIRT1101168	hsa-miR-370	CLIP-seq
MIRT1101169	hsa-miR-4757-5p	CLIP-seq
MIRT1101170	hsa-miR-10a	CLIP-seq
MIRT1101171	hsa-miR-10b	CLIP-seq
MIRT1101167	hsa-miR-1976	CLIP-seq
MIRT1101168	hsa-miR-370	CLIP-seq
MIRT1101172	hsa-miR-4539	CLIP-seq
MIRT1101173	hsa-miR-4680-5p	CLIP-seq
MIRT1101174	hsa-miR-4714-5p	CLIP-seq
MIRT1101169	hsa-miR-4757-5p	CLIP-seq
MIRT1101170	hsa-miR-10a	CLIP-seq
MIRT1101171	hsa-miR-10b	CLIP-seq
MIRT1101167	hsa-miR-1976	CLIP-seq
MIRT1101168	hsa-miR-370	CLIP-seq
MIRT1101172	hsa-miR-4539	CLIP-seq
MIRT1101173	hsa-miR-4680-5p	CLIP-seq
MIRT1101174	hsa-miR-4714-5p	CLIP-seq
MIRT1101169	hsa-miR-4757-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BRCA1	Unknown	15831101
CTBP1	Unknown	15831101
SP1	Unknown	10094831;7537848

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005198	Function	Structural molecule activity	IEA
GO:0005515	Function	Protein binding	IPI	10852826, 10954706, 11684708, 14710194, 14756564, 15671067, 15731013, 15846844, 16189514, 16367866, 19549727, 20035625, 21988832, 23112296, 25416956, 25910212, 26769854, 26871637, 30021884, 31515488, 32296183, 32814053
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IDA	16424149, 20346438
GO:0005815	Component	Microtubule organizing center	IDA	18000879
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005882	Component	Intermediate filament	IDA	10852826
GO:0005912	Component	Adherens junction	HDA	25468996
GO:0007049	Process	Cell cycle	IEA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	2434380
GO:0009750	Process	Response to fructose	IEA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0016032	Process	Viral process	IEA
GO:0031424	Process	Keratinization	TAS
GO:0031667	Process	Response to nutrient levels	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IEA
GO:0034451	Component	Centriolar satellite	IDA	18000879
GO:0043000	Process	Golgi to plasma membrane CFTR protein transport	IDA	15529338
GO:0043066	Process	Negative regulation of apoptotic process	IDA	11684708
GO:0045095	Component	Keratin filament	IDA	16424149
GO:0045104	Process	Intermediate filament cytoskeleton organization	IDA	20346438
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0070268	Process	Cornification	TAS
GO:0070365	Process	Hepatocyte differentiation	IEA
GO:0072497	Process	Mesenchymal stem cell differentiation	IEA
GO:0097110	Function	Scaffold protein binding	IPI	10852826
GO:0097191	Process	Extrinsic apoptotic signaling pathway	IEA
GO:0097284	Process	Hepatocyte apoptotic process	IEA
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098641	Function	Cadherin binding involved in cell-cell adhesion	HDA	25468996
GO:1902488	Process	Cholangiocyte apoptotic process	IEA

Other IDs

• MIM: 148070
• HGNC: 6430
• e!Ensembl: ENSG00000111057

Protein

• UniProt ID: P05783
• Protein name: Keratin, type I cytoskeletal 18 (Cell proliferation-inducing gene 46 protein) (Cytokeratin-18) (CK-18) (Keratin-18) (K18)
• Protein function: Involved in the uptake of thrombin-antithrombin complexes by hepatic cells (By similarity). When phosphorylated, plays a role in filament reorganization. Involved in the delivery of mutated CFTR to the plasma membrane. Together with KRT8, is inv
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00038	Filament	79 → 391	Intermediate filament protein	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Expressed in colon, placenta, liver and very weakly in exocervix. Increased expression observed in lymph nodes of breast carcinoma. {ECO:0000269|PubMed:17213200, ECO:0000269|PubMed:2422083, ECO:0000269|PubMed:2434380, ECO:0000269|PubMe
• Sequence:

  MSFTTRSTFSTNYRSLGSVQAPSYGARPVSSAASVYAGAGGSGSRISVSRSTSFRGGMGS
  GGLATGIAGGLAGMGGIQNEKETMQSLNDRLASYLDRVRSLETENRRLESKIREHLEKKG
  PQVRDWSHYFKIIEDLRAQIFANTVDNARIVLQIDNARLAADDFRVKYETELAMRQSVEN
  DIHGLRKVIDDTNITRLQLETEIEALKEELLFMKKNHEEEVKGLQAQIASSGLTVEVDAP
  KSQDLAKIMADIRAQYDELARKNREELDKYWSQQIEESTTVVTTQSAEVGAAETTLTELR
  RTVQSLEIDLDSMRNLKASLENSLREVEARYALQMEQLNGILLHLESELAQTRAEGQRQA
  QEYEALLNIKVKLEAEIATYRRLLEDGEDFNLGDALDSSNSMQTIQKTTTRRIVDGKVVS
  ETNDTKVLRH

• Sequence length: 430

Pathways

KEGG:

Estrogen signaling pathway
Staphylococcus aureus infection

Reactome:

Keratinization
Formation of the cornified envelope

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	20061804, 25330770
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	20061804, 25330770
Hypertension	Hypertensive disease	rs13306026
Liver failure	Liver Failure, Acute	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682	20538000
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	20061804, 25330770
Pulmonary arterial hypertension	Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954

Unknown
Disease term	Disease name	Evidence	References	Source
Cirrhosis	Cirrhosis, Cryptogenic, Cirrhosis, Cirrhosis, Familial, cirrhosis, familial		12724528, 9011570	ClinVar, GenCC
Cleft Lip With Or Without Cleft Palate	Cleft Lip With Or Without Cleft Palate			GWAS
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	11923318, 1690512, 29949537, 33588765, 35328735
Adenocarcinoma of Lung	Associate	2414994, 35102706
Alzheimer Disease	Associate	32833429
Arrest of spermatogenesis	Associate	12009342
Ascites	Associate	8946143
Asthma	Associate	16891808
Atypical Squamous Cells of the Cervix	Associate	19309563
Biliary Atresia	Associate	12724528, 35029214
Breast Neoplasms	Associate	14556659, 19050795, 20103682, 21425134, 28634007, 29884220, 33588765, 34801010, 8946143, 9786916
Cancer Pain	Associate	21425134
Carcinogenesis	Associate	16101125
Carcinoma	Associate	16101125
Carcinoma	Stimulate	21245866
Carcinoma Embryonal	Associate	17993720
Carcinoma Hepatocellular	Associate	12717831, 18712172, 27034142, 27831650, 30588199
Carcinoma Intraductal Noninfiltrating	Associate	28634007
Carcinoma Merkel Cell	Associate	31201352
Carcinoma Mucoepidermoid	Associate	34247629
Carcinoma Non Small Cell Lung	Inhibit	24990820
Carcinoma Ovarian Epithelial	Associate	24816687
Carcinoma Papillary	Stimulate	21076459
Carcinoma Renal Cell	Associate	16415791, 20372788, 28449664, 33588765
Carcinoma Signet Ring Cell	Associate	23573317
Carcinoma Squamous Cell	Inhibit	1372155
Carcinoma Squamous Cell	Associate	16412231, 1690512, 1717607, 19755983, 27151703, 29427328, 32115573, 33588765, 37783508, 7504888, 7527618
Cardiomyopathy Hypertrophic	Associate	39195218
Cardiomyopathy infantile histiocytoid	Associate	19843013
Cell Transformation Neoplastic	Associate	12140315
Chemical and Drug Induced Liver Injury	Associate	22246910, 26286715
Cholelithiasis	Associate	22246910
Cirrhosis Cryptogenic	Associate	11372009, 12724528, 9011570
Colonic Neoplasms	Associate	12140315, 33588765
Colorectal Neoplasms	Associate	11923318, 27415969, 31949199, 34938284
Colorectal Neoplasms	Stimulate	31345960
Cystic Fibrosis	Associate	21548936
Cystitis Interstitial	Associate	18082196
Diarrhea 5 With Tufting Enteropathy Congenital	Associate	28428534
Dysentery Bacillary	Associate	34938284
Dysplastic Nevus Syndrome	Associate	7527618
Emphysema	Associate	34815668
Endometriosis	Associate	33817715
Epstein Barr Virus Infections	Associate	16101125
Esophageal Squamous Cell Carcinoma	Associate	19755983, 27706656
Fat Necrosis	Associate	23275357
Fatty Liver	Associate	36096296
Fatty Liver Alcoholic	Associate	19891019, 26436355, 26565986, 34609305, 37189422
Fetal Growth Retardation	Associate	22815878
Fibroadenoma	Inhibit	8932346
Fibrocartilaginous embolism	Associate	25749011
Fibrosis	Associate	20538000, 30188001
Flatfoot	Associate	35197508
Gastroesophageal Reflux	Associate	22563171
Gastrointestinal Neoplasms	Associate	27706656
Glucose Galactose Malabsorption	Associate	25633990
Granulosa Cell Tumor	Associate	26911253, 29401296
Heart Failure	Associate	32651653
Hepatitis Autoimmune	Associate	11529922
Hepatitis B	Associate	19129556
Hepatitis B Chronic	Associate	26592838
Hepatitis C Chronic	Associate	11529922
Hepatitis Chronic	Associate	9011570
Hepatolenticular Degeneration	Associate	35029214
Hyperkeratosis Epidermolytic	Associate	11788583
Hypertension Pregnancy Induced	Associate	12044317
Hypertriglyceridemia	Associate	37189422
Infections	Stimulate	22025513
Inflammation	Associate	19419951, 37189422
Inflammatory Bowel Diseases	Associate	24915158
Insulin Resistance	Associate	19891019, 28652657, 37189422
Intracranial Aneurysm	Associate	36451838
Kidney Cortex Necrosis	Associate	15136109
Liver Diseases	Associate	12724528, 20538000, 32927888, 33176798, 9011570
Liver Diseases Alcoholic	Associate	23078008, 32588725
Liver Failure	Associate	20538000, 23078008, 23390034, 35029214, 38014619, 9011570
Liver Failure Acute	Associate	12724528, 20538000, 23390034, 26286715
Lung Neoplasms	Associate	19657000
Lymphatic Metastasis	Associate	24990820, 25379943, 33588765
Lymphatic Metastasis	Stimulate	31345960
Lymphoma Non Hodgkin	Associate	34070214
Melanoma	Associate	1378696
Metaplasia	Associate	17185354
Mixed Tumor Mullerian	Associate	8946143
Moyamoya Disease	Associate	40624255
Myositis	Associate	12707036
Myotonic Dystrophy	Stimulate	32933141
Necrosis	Associate	19197325, 23390034, 24605039, 31115582
Neoplasm Metastasis	Associate	1378696, 25379943, 27484993, 27706656, 31947504, 37439806
Neoplasm Metastasis	Stimulate	31345960
Neoplasm Micrometastasis	Associate	16425429
Neoplasms	Associate	11455036, 11923318, 12192603, 1378696, 1379783, 15685240, 15816531, 15990899, 16050957, 16610069, 1689541, 1690428, 1696538, 1717607, 1721491, 18602667, 19129556, 19509549, 19755983, 19913990, 20103682, 21425134, 21460362, 21841771, 22073364, 22246910, 22429491, 22563171, 23396250, 23411939, 23558567, 24565683, 24838641, 24990820, 25846732, 26715808, 28494073, 31115582, 31345960, 32041568, 33588765, 34286902, 34355401, 35121727, 35197508, 37439806, 9016310
Neoplasms	Inhibit	8932346
Neoplasms Germ Cell and Embryonal	Associate	17993720, 34153645
NOG Related Symphalangism Spectrum Disorder	Associate	1721491
Non alcoholic Fatty Liver Disease	Associate	23275357, 26436355, 28652657, 29971527
Norrie disease	Associate	25749011
Obesity	Associate	37189422
Orofacial Cleft 1	Associate	28232668
Ovarian Diseases	Associate	26911253
Ovarian Neoplasms	Associate	33588765, 7678716, 9266754
Pancreatic Neoplasms	Associate	1372155, 21460362, 21811100
Peripheral Nervous System Neoplasms	Stimulate	16443732
Polyradiculopathy	Associate	32926213
Preeclamptic toxemia	Associate	26028931
Primary Ovarian Insufficiency	Associate	29401296
Prostatic Hyperplasia	Inhibit	11254220
Prostatic Neoplasms	Associate	18084254, 28494073, 29206234, 32343676
Prostatitis	Inhibit	11254220
Prostatitis	Associate	15816531
Pulmonary Disease Chronic Obstructive	Associate	34815668
Rectal Neoplasms	Associate	19050903
Retinal Dysplasia	Associate	7527618
Sarcoma	Associate	1704194
Sertoli Cell Tumor	Associate	28061524
Skin Diseases	Associate	26286715, 29427328
Spermatogenic Failure Nonobstructive Y Linked	Associate	12009342
Squamous Cell Carcinoma of Head and Neck	Associate	16412231, 27151703
Stomach Neoplasms	Associate	16425429, 24838641
Triple Negative Breast Neoplasms	Associate	29884220
Urethral Neoplasms	Associate	25640370
Urinary Bladder Neoplasms	Associate	19197325, 19913990
Uterine Cervical Dysplasia	Associate	1690513
Uterine Cervical Neoplasms	Associate	1379783, 21119362, 31115582
Wounds and Injuries	Associate	28428534