CLDN1 (claudin 1)

Gene

• Entrez ID: 9076
• Gene name: Claudin 1
• Gene symbol: CLDN1
• Synonyms (NCBI Gene): CLD1, ILVASC, SEMP1
• Chromosome: 3
• Chromosome location: 3q28
• Summary: Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space.

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001558	hsa-miR-155-5p	pSILAC	18668040
MIRT017510	hsa-miR-335-5p	Microarray	18185580
MIRT019768	hsa-miR-375	Microarray	20215506
MIRT001558	hsa-miR-155-5p	Proteomics;Other	18668040
MIRT048360	hsa-miR-29b-3p	CLASH	23622248
MIRT001558	hsa-miR-155-5p	Immunocytochemistry, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24604078
MIRT719050	hsa-miR-1243	HITS-CLIP	19536157
MIRT719049	hsa-miR-1285-5p	HITS-CLIP	19536157
MIRT719048	hsa-miR-5003-5p	HITS-CLIP	19536157
MIRT719046	hsa-miR-4286	HITS-CLIP	19536157
MIRT719047	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT719045	hsa-miR-653-3p	HITS-CLIP	19536157
MIRT659488	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT659487	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT659486	hsa-miR-3688-3p	HITS-CLIP	23824327
MIRT659484	hsa-miR-4461	HITS-CLIP	23824327
MIRT659485	hsa-miR-1470	HITS-CLIP	23824327
MIRT659483	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT659482	hsa-miR-3928-3p	HITS-CLIP	23824327
MIRT659481	hsa-miR-3148	HITS-CLIP	23824327
MIRT659480	hsa-miR-6124	HITS-CLIP	23824327
MIRT659479	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT659478	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT659477	hsa-miR-3915	HITS-CLIP	23824327
MIRT659476	hsa-miR-1224-5p	HITS-CLIP	23824327
MIRT659475	hsa-miR-4689	HITS-CLIP	23824327
MIRT659474	hsa-miR-6858-5p	HITS-CLIP	23824327
MIRT495916	hsa-miR-548u	PAR-CLIP	22291592
MIRT495915	hsa-miR-7161-5p	PAR-CLIP	22291592
MIRT495914	hsa-miR-376c-3p	PAR-CLIP	22291592
MIRT495913	hsa-miR-3117-5p	PAR-CLIP	22291592
MIRT495916	hsa-miR-548u	PAR-CLIP	22291592
MIRT495915	hsa-miR-7161-5p	PAR-CLIP	22291592
MIRT495914	hsa-miR-376c-3p	PAR-CLIP	22291592
MIRT495913	hsa-miR-3117-5p	PAR-CLIP	22291592
MIRT484231	hsa-miR-338-5p	PAR-CLIP	23592263
MIRT484230	hsa-miR-10b-3p	PAR-CLIP	23592263
MIRT484228	hsa-miR-5100	PAR-CLIP	23592263
MIRT484229	hsa-miR-3942-3p	PAR-CLIP	23592263
MIRT731836	hsa-miR-142-5p	Luciferase reporter assay, qRT-PCR	27277258
MIRT731836	hsa-miR-142-5p	Luciferase reporter assay, qRT-PCR	27277258
MIRT732739	hsa-miR-34c-3p	Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	32586280
MIRT719050	hsa-miR-1243	HITS-CLIP	19536157
MIRT719049	hsa-miR-1285-5p	HITS-CLIP	19536157
MIRT719048	hsa-miR-5003-5p	HITS-CLIP	19536157
MIRT719046	hsa-miR-4286	HITS-CLIP	19536157
MIRT719047	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT719045	hsa-miR-653-3p	HITS-CLIP	19536157
MIRT659488	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT659487	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT659486	hsa-miR-3688-3p	HITS-CLIP	23824327
MIRT659484	hsa-miR-4461	HITS-CLIP	23824327
MIRT659485	hsa-miR-1470	HITS-CLIP	23824327
MIRT659483	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT659482	hsa-miR-3928-3p	HITS-CLIP	23824327
MIRT659481	hsa-miR-3148	HITS-CLIP	23824327
MIRT659480	hsa-miR-6124	HITS-CLIP	23824327
MIRT659479	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT659478	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT659477	hsa-miR-3915	HITS-CLIP	23824327
MIRT659476	hsa-miR-1224-5p	HITS-CLIP	23824327
MIRT659475	hsa-miR-4689	HITS-CLIP	23824327
MIRT659474	hsa-miR-6858-5p	HITS-CLIP	23824327
MIRT495916	hsa-miR-548u	PAR-CLIP	22291592
MIRT495915	hsa-miR-7161-5p	PAR-CLIP	22291592
MIRT495914	hsa-miR-376c-3p	PAR-CLIP	22291592
MIRT495913	hsa-miR-3117-5p	PAR-CLIP	22291592
MIRT495916	hsa-miR-548u	PAR-CLIP	22291592
MIRT495915	hsa-miR-7161-5p	PAR-CLIP	22291592
MIRT495914	hsa-miR-376c-3p	PAR-CLIP	22291592
MIRT495913	hsa-miR-3117-5p	PAR-CLIP	22291592
MIRT484231	hsa-miR-338-5p	PAR-CLIP	23592263
MIRT484230	hsa-miR-10b-3p	PAR-CLIP	23592263
MIRT484228	hsa-miR-5100	PAR-CLIP	23592263
MIRT484229	hsa-miR-3942-3p	PAR-CLIP	23592263
MIRT895115	hsa-miR-1206	CLIP-seq
MIRT895116	hsa-miR-124	CLIP-seq
MIRT895117	hsa-miR-3125	CLIP-seq
MIRT895118	hsa-miR-3129-3p	CLIP-seq
MIRT895119	hsa-miR-3164	CLIP-seq
MIRT895120	hsa-miR-376c	CLIP-seq
MIRT895121	hsa-miR-3916	CLIP-seq
MIRT895122	hsa-miR-4476	CLIP-seq
MIRT895123	hsa-miR-4693-3p	CLIP-seq
MIRT895124	hsa-miR-4712-3p	CLIP-seq
MIRT895125	hsa-miR-4724-5p	CLIP-seq
MIRT895126	hsa-miR-506	CLIP-seq
MIRT895127	hsa-miR-600	CLIP-seq
MIRT1965411	hsa-miR-3119	CLIP-seq
MIRT1965412	hsa-miR-4659a-3p	CLIP-seq
MIRT1965413	hsa-miR-4659b-3p	CLIP-seq
MIRT2201379	hsa-miR-3976	CLIP-seq
MIRT895116	hsa-miR-124	CLIP-seq
MIRT895126	hsa-miR-506	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001618	Function	Virus receptor activity	IMP	20375010
GO:0005198	Function	Structural molecule activity	IEA
GO:0005515	Function	Protein binding	IPI	20375010, 20651236, 25323998, 25849148, 26607202, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	11090614
GO:0005887	Component	Integral component of plasma membrane	IMP	23407391
GO:0005923	Component	Bicellular tight junction	IBA	21873635
GO:0005923	Component	Bicellular tight junction	IDA	20375010, 23407391, 25849148
GO:0005923	Component	Bicellular tight junction	ISS
GO:0007155	Process	Cell adhesion	IBA	21873635
GO:0007568	Process	Aging	IEA
GO:0008065	Process	Establishment of blood-nerve barrier	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0016021	Component	Integral component of membrane	TAS	9931503
GO:0016323	Component	Basolateral plasma membrane	IDA	20375010
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0016338	Process	Calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	ISS
GO:0030335	Process	Positive regulation of cell migration	IMP	28412298
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032991	Component	Protein-containing complex	IDA	25849148, 26607202
GO:0034331	Process	Cell junction maintenance	ISS
GO:0035633	Process	Maintenance of blood-brain barrier	NAS	30280653
GO:0042538	Process	Hyperosmotic salinity response	IEA
GO:0042802	Function	Identical protein binding	IPI	25849148
GO:0042802	Function	Identical protein binding	ISS
GO:0045216	Process	Cell-cell junction organization	IMP	20164257
GO:0045471	Process	Response to ethanol	IEA
GO:0046718	Process	Viral entry into host cell	IEA
GO:0051259	Process	Protein complex oligomerization	IDA	23704991
GO:0060054	Process	Positive regulation of epithelial cell proliferation involved in wound healing	IMP	28412298
GO:0061436	Process	Establishment of skin barrier	IMP	23407391
GO:0061772	Process	Xenobiotic transport across blood-nerve barrier	IEA
GO:0070160	Component	Tight junction	IDA	30734065
GO:0070673	Process	Response to interleukin-18	IEA
GO:0070830	Process	Bicellular tight junction assembly	IBA	21873635
GO:0070830	Process	Bicellular tight junction assembly	IMP	25849148, 26607202
GO:0071284	Process	Cellular response to lead ion	IEA
GO:0071346	Process	Cellular response to interferon-gamma	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0071548	Process	Response to dexamethasone	IEA
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEA
GO:0090303	Process	Positive regulation of wound healing	IMP	28412298
GO:0090557	Process	Establishment of endothelial intestinal barrier	IEA
GO:0097421	Process	Liver regeneration	IEA
GO:1903348	Process	Positive regulation of bicellular tight junction assembly	IEA
GO:1903545	Process	Cellular response to butyrate	IEA

Other IDs

• MIM: 603718
• HGNC: 2032
• e!Ensembl: ENSG00000163347

Protein

• UniProt ID: O95832
• Protein name: Claudin-1 (Senescence-associated epithelial membrane protein)
• Protein function: Claudins function as major constituents of the tight junction complexes that regulate the permeability of epithelia. While some claudin family members play essential roles in the formation of impermeable barriers, others mediate the permeability
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00822	PMP22_Claudin	4 → 182	PMP-22/EMP/MP20/Claudin family	Family

• Tissue specificity: TISSUE SPECIFICITY: Strongly expressed in liver and kidney. Expressed in heart, brain, spleen, lung and testis. {ECO:0000269|PubMed:9931503}.
• Sequence:

  MANAGLQLLGFILAFLGWIGAIVSTALPQWRIYSYAGDNIVTAQAMYEGLWMSCVSQSTG
  QIQCKVFDSLLNLSSTLQATRALMVVGILLGVIAIFVATVGMKCMKCLEDDEVQKMRMAV
  IGGAIFLLAGLAILVATAWYGNRIVQEFYDPMTPVNARYEFGQALFTGWAAASLCLLGGA
  LLCCSCPRKTTSYPTPRPYPKPAPSSGKDYV

• Sequence length: 211

Pathways

KEGG:

Virion - Hepatitis viruses
Cell adhesion molecules
Tight junction
Leukocyte transendothelial migration
Pathogenic Escherichia coli infection
Hepatitis C

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	24014025, 19579870
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	24014025, 19579870
Dermatitis	Contact Dermatitis	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	23136956
Hypotrichosis	Hypotrichosis	rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819, rs121917820, rs387906382, rs267606867, rs267606868, rs267606869, rs201868115, rs587776925, rs587777527, rs587777545, rs766783183, rs879255262, rs201249971, rs768448663, rs1566212378, rs1249530918, rs1260995701, rs1569039353, rs1827030121
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Ichthyosis-sclerosing cholangitis syndrome	Neonatal ichthyosis-sclerosing cholangitis syndrome, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS	rs864309516, rs864309517	29146216, 15521008
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	19579870, 24014025
Oligodontia	Oligodontia	rs1591901585

Unknown
Disease term	Disease name	Evidence	References	Source
Acanthosis nigricans	Acanthosis Nigricans			ClinVar
Endometriosis	Endometriosis		20864642	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	17585317, 22408413, 23591077, 27687058
Adenocarcinoma Follicular	Associate	36579982, 37203104
Adenocarcinoma in Situ	Associate	23591077
Adenocarcinoma Mucinous	Associate	18756604
Adenocarcinoma of Lung	Associate	23591077, 27766775, 27819672, 29524521, 32824620
Adenoma	Associate	17962811, 22408413, 30938860, 36579982, 37203104
Adenoma	Stimulate	18711353
Ameloblastoma	Associate	31473941
Asthma	Associate	37964516
Atherosclerosis	Stimulate	28901429
Autism Spectrum Disorder	Associate	27957319
Biliary Tract Neoplasms	Associate	18854598
Brain Edema	Associate	39189437
Brain Neoplasms	Associate	19578981
Breast Neoplasms	Inhibit	15743508, 27649506
Breast Neoplasms	Associate	20490282, 20937153, 22464177, 22941467, 23721519, 23844228, 26067567, 27649506, 31467400, 34715746
Carcinogenesis	Associate	15800679, 19414319, 21821115, 22408413, 22776839, 27742576, 31177095, 35114976, 37203104
Carcinoma Hepatocellular	Associate	18234789, 19052094, 19776133, 19897486, 23385421, 23391410, 24696415, 26157141, 28617312, 28978646, 29538454, 32034780, 38308285
Carcinoma in Situ	Associate	23591077
Carcinoma Medullary	Inhibit	17962811
Carcinoma Medullary	Associate	37203104
Carcinoma Non Small Cell Lung	Associate	24662916, 27687058, 28614291, 31438892, 35499228
Carcinoma Ovarian Epithelial	Associate	19440550
Carcinoma Papillary	Associate	37203104
Carcinoma Papillary	Inhibit	38415551
Carcinoma Papillary Follicular	Associate	36579982
Carcinoma Renal Cell	Associate	19578981, 29607933
Carcinoma Signet Ring Cell	Associate	18756604
Carcinoma Squamous Cell	Associate	17585317, 24070899, 27687058, 31551535, 32518268, 34171074
Carcinoma Squamous Cell	Inhibit	24294371
Choroiditis	Associate	30024608
Colitis	Associate	27742576
Colitis Associated Neoplasms	Associate	27742576
Colonic Neoplasms	Associate	17959672, 21878201, 27742576
Colonic Neoplasms	Inhibit	22776839
Colorectal Neoplasms	Associate	15475928, 16253248, 17970035, 19881542, 21878201, 22719836, 22941059, 23682078, 23880304, 25038829, 26894861, 27742576, 28381183, 28759954, 31137244, 32071364, 33572952, 35114976, 35892269, 36991484
Colorectal Neoplasms	Stimulate	19414319
Communicable Diseases	Inhibit	28118611
Constipation	Stimulate	25998845
Corneal dystrophy gelatinous drop like	Associate	20651236
Craniopharyngioma	Associate	24305709
Crohn Disease	Associate	39201543
Cystitis Interstitial	Associate	21352500
Cysts	Associate	40375172
Death	Associate	25393310
Demyelinating Diseases	Associate	26662145, 34008771
Dermatitis Allergic Contact	Inhibit	31783056
Dermatitis Atopic	Inhibit	21163515, 32029783, 37734479
Dermatitis Atopic	Associate	26319240, 35770317
Diabetes Mellitus Type 1	Stimulate	21762372
Diarrhea	Inhibit	25998845
Diarrhea	Associate	38132165
Drug Related Side Effects and Adverse Reactions	Associate	29524521, 31551535
Dysentery	Inhibit	38132165
Ectodermal Dysplasia	Associate	37621953
Eczema	Associate	26319240
Endometrial Neoplasms	Associate	31692912
Endotoxemia	Associate	31330482
Eosinophilic Esophagitis	Associate	30211842
Esophageal Neoplasms	Associate	18480547
Esophageal Squamous Cell Carcinoma	Associate	18480547, 34722771
Fibrosis	Stimulate	24696415
Gastroesophageal Reflux	Associate	22994974, 29558791
Gastroesophageal Reflux	Inhibit	39719586
Glioblastoma	Associate	25345514
Glioma	Associate	25345514
Glycosuria Renal	Associate	18587324, 19073886
Hashimoto Disease	Associate	25550843, 27277258
Heart Diseases	Associate	39719586
Helicobacter Infections	Associate	24321518
Hepatitis C	Associate	26519290, 31561440, 32034780
Hereditary Breast and Ovarian Cancer Syndrome	Associate	20490282, 31044387
Hypoxia	Stimulate	29524521
Hypoxia Brain	Associate	39231459
Ichthyosis	Associate	29803800
Ichthyosis Leukocyte Vacuoles Alopecia And Sclerosing Cholangitis	Associate	35806491
Idiopathic Noncirrhotic Portal Hypertension	Stimulate	24696415
Idiopathic Pulmonary Fibrosis	Associate	18955738
Infections	Inhibit	19052094, 38415551
Infections	Associate	23894488
Inflammation	Associate	26319240, 27742576, 32029783, 37964516
Inflammatory Bowel Diseases	Stimulate	18711353
Inflammatory Bowel Diseases	Associate	23946598
Intestinal Diseases	Associate	21915437
Irritable Bowel Syndrome	Associate	25930081, 25998845, 33843785, 38132165
Irritable Bowel Syndrome	Inhibit	39551069
Kidney Diseases	Associate	38255818
Laryngeal Neoplasms	Associate	31115553
Lecithin Cholesterol Acyltransferase Deficiency	Associate	25550843
Lecithin Cholesterol Acyltransferase Deficiency	Inhibit	39719586
Leukemia Lymphocytic Chronic B Cell	Associate	21832144
Leukoaraiosis	Associate	34008771
Liver Cirrhosis	Stimulate	24696415
Lung Neoplasms	Associate	22675434, 32824620
Lymphatic Metastasis	Associate	18756604, 19578981, 26436506, 31769164, 32045884
Lymphatic Metastasis	Inhibit	25393310
Massive Hepatic Necrosis	Associate	25820616
Melanoma	Associate	19305641
Mesothelioma	Associate	16505274
Mesothelioma Malignant	Associate	16505274
Mitochondrial Diseases	Stimulate	26157141
Mitochondrial Diseases	Associate	28978646
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport	Stimulate	26157141
Mouth Neoplasms	Associate	18991282, 36581338
Multiple Sclerosis	Stimulate	21762372
Muscle Neoplasms	Associate	38415551
Nasal Polyps	Associate	37224640
Nasopharyngeal Carcinoma	Associate	25778318
Nasopharyngeal Neoplasms	Associate	28055967
Neoplasm Invasiveness	Associate	18756604, 24305709, 36074678
Neoplasm Invasiveness	Inhibit	27649506
Neoplasm Metastasis	Associate	15743508, 18756604, 22776839, 22941059, 25824783, 26067567, 26436506, 34214117, 38477086
Neoplasm Metastasis	Inhibit	23844228
Neoplasm Metastasis	Stimulate	25078758, 28614291
Neoplasms	Associate	15475928, 15750830, 15800679, 17585317, 17970035, 18587324, 18711353, 18756604, 18991282, 19440550, 19578981, 20937153, 22408413, 22719836, 22776839, 23721519, 24294371, 24294391, 24305709, 25038829, 26067567, 26157141, 26436506, 27649506, 28055967, 28617312, 28978646, 30024608, 30910845, 31044387, 31659097, 31769164, 33649777, 33761685, 34171074, 34214117, 34715746, 36579982, 37203104, 37621953, 38477086, 39231459, 40076777
Neoplasms	Inhibit	15743508, 20490282, 23390516, 25345514, 38415551
Neoplasms	Stimulate	22941059, 23856835, 24321518, 29607933, 32034780
Neuroectodermal Tumors Primitive	Associate	15920547
Neuroendocrine Tumors	Associate	40217502
Neuromyelitis Optica	Associate	32983166
Nevus	Associate	19305641
Non Muscle Invasive Bladder Neoplasms	Inhibit	38415551
Obesity	Associate	30938860
Odontoma	Inhibit	31473941
Oroticaciduria 1	Associate	23159288
Ovarian Neoplasms	Associate	19440550
Pancreatic Neoplasms	Associate	26028104, 36275722
Papilloma	Inhibit	21832144
Papilloma Inverted	Inhibit	21832144
Personality Disorders	Associate	18991282
Polycystic Kidney Autosomal Dominant	Associate	28385574
Polyradiculoneuropathy	Associate	26662145
Poroma	Associate	31044387
Prostatic Hyperplasia	Inhibit	32692865
Psoriasis	Inhibit	19661441
Pulmonary Atelectasis	Associate	32561683
Renal Insufficiency Chronic	Associate	37833387
Respiratory System Abnormalities	Stimulate	26157141
Retinoblastoma	Associate	30024608
Sarcoidosis	Associate	18955738
Sarcoma Ewing	Associate	15920547
Sarcoma Synovial	Associate	14704716
Skin Diseases	Inhibit	37734479
Skin Neoplasms	Associate	24294371
Spinal Dysraphism	Associate	35505001
Squamous Cell Carcinoma of Head and Neck	Associate	18991282, 23856835, 25078758, 26436506, 31115553, 31769164, 33649777, 37541622, 39231459
Stomach Neoplasms	Associate	18756604, 24321518, 25548484, 25755790, 31769164, 33437215
Tarlov Cysts	Stimulate	18991282, 25078758
Tertiary Lymphoid Structures	Associate	22776839, 26436506, 28759954
Tertiary Lymphoid Structures	Stimulate	34171074
Thyroid Cancer Papillary	Associate	19578981, 23159288, 25372417, 25550843, 30414611, 32045884, 36465624, 36579982
Thyroid Neoplasms	Associate	17962811, 36579982, 38477086
Thyroid Nodule	Associate	23159288
Thyroiditis	Associate	25550843
Tooth Erosion	Associate	29558791
Triple Negative Breast Neoplasms	Associate	25393310, 30910845
Urethral Neoplasms	Inhibit	38415551
Urinary Bladder Neoplasms	Associate	36074678, 38415551
Urticaria Solar	Associate	24294371
Uterine Cervical Dysplasia	Associate	23900598, 26463354
Uterine Cervical Neoplasms	Associate	23900598, 26463354
Uterine Cervicitis	Associate	29442221
Varicella Zoster Virus Infection	Associate	30835269
Vulvar Neoplasms	Associate	22170432