AQP1 (aquaporin 1 (Colton blood group))

Gene

• Entrez ID: 358
• Gene name: Aquaporin 1 (Colton blood group)
• Gene symbol: AQP1
• Synonyms (NCBI Gene): AQP-CHIP, CHIP28, CO
• Chromosome: 7
• Chromosome location: 7p14.3
• Summary: This gene encodes a small integral membrane protein with six bilayer spanning domains that functions as a water channel protein. This protein permits passive transport of water along an osmotic gradient. This gene is a possible candidate for disorders inv

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894004	C>A,T	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006497	hsa-miR-320a	Luciferase reporter assay	20628061
MIRT006497	hsa-miR-320a	Luciferase reporter assay	20628061
MIRT006497	hsa-miR-320a	Luciferase reporter assay	20628061
MIRT736549	hsa-miR-3194-3p	Luciferase reporter assay, Western blotting, qRT-PCR	32903818
MIRT791425	hsa-miR-1324	CLIP-seq
MIRT791426	hsa-miR-2278	CLIP-seq
MIRT791427	hsa-miR-2467-3p	CLIP-seq
MIRT791428	hsa-miR-3166	CLIP-seq
MIRT791429	hsa-miR-3678-3p	CLIP-seq
MIRT791430	hsa-miR-4311	CLIP-seq
MIRT791431	hsa-miR-4468	CLIP-seq
MIRT791432	hsa-miR-2110	CLIP-seq
MIRT791433	hsa-miR-3150a-3p	CLIP-seq
MIRT791434	hsa-miR-3164	CLIP-seq
MIRT791435	hsa-miR-3187-3p	CLIP-seq
MIRT791436	hsa-miR-4271	CLIP-seq
MIRT791437	hsa-miR-4435	CLIP-seq
MIRT791438	hsa-miR-4701-5p	CLIP-seq
MIRT791439	hsa-miR-4725-3p	CLIP-seq
MIRT791440	hsa-miR-548s	CLIP-seq
MIRT791441	hsa-miR-588	CLIP-seq
MIRT791442	hsa-miR-635	CLIP-seq
MIRT1933461	hsa-miR-146a	CLIP-seq
MIRT1933462	hsa-miR-146b-5p	CLIP-seq
MIRT1933463	hsa-miR-3123	CLIP-seq
MIRT1933464	hsa-miR-3130-3p	CLIP-seq
MIRT1933465	hsa-miR-3185	CLIP-seq
MIRT1933466	hsa-miR-346	CLIP-seq
MIRT1933467	hsa-miR-3925-5p	CLIP-seq
MIRT1933468	hsa-miR-4288	CLIP-seq
MIRT1933469	hsa-miR-4643	CLIP-seq
MIRT1933470	hsa-miR-4793-3p	CLIP-seq
MIRT1933471	hsa-miR-632	CLIP-seq
MIRT1933472	hsa-miR-767-3p	CLIP-seq
MIRT2477140	hsa-miR-323b-5p	CLIP-seq
MIRT2477141	hsa-miR-4646-3p	CLIP-seq
MIRT2477142	hsa-miR-4799-5p	CLIP-seq
MIRT2477143	hsa-miR-642a	CLIP-seq
MIRT2477140	hsa-miR-323b-5p	CLIP-seq
MIRT2477141	hsa-miR-4646-3p	CLIP-seq
MIRT2477142	hsa-miR-4799-5p	CLIP-seq
MIRT2477143	hsa-miR-642a	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003091	Process	Renal water homeostasis	TAS
GO:0003097	Process	Renal water transport	IBA	21873635
GO:0003097	Process	Renal water transport	IDA	9096382
GO:0005223	Function	Intracellular cGMP-activated cation channel activity	IDA	14561230
GO:0005267	Function	Potassium channel activity	IMP	11914159
GO:0005372	Function	Water transmembrane transporter activity	IDA	7521540, 8576117, 8584435, 9096382, 9321919, 11914159, 12172703, 12766090, 14561230
GO:0005515	Function	Protein binding	IPI	16189514, 18509662, 19060904, 19447967, 19584911, 25416956, 25910212, 32296183
GO:0005634	Component	Nucleus	IDA	17645239
GO:0005737	Component	Cytoplasm	IDA	16814974, 17645239, 18509662, 19545896, 21118806
GO:0005886	Component	Plasma membrane	IDA	7491270, 9321919, 12002613, 12051745, 14521551, 17012249, 17645239, 18392839, 18509662, 19545896, 19584911, 21118806
GO:0005886	Component	Plasma membrane	IDA	7544358
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	1722319
GO:0005903	Component	Brush border	IDA	16133142, 16814974
GO:0006813	Process	Potassium ion transport	ISS
GO:0006833	Process	Water transport	IBA	21873635
GO:0006833	Process	Water transport	IDA	7521540, 8576117, 8584435, 9321919, 11914159, 12172703, 12766090, 14561230
GO:0006833	Process	Water transport	IMP	19424603
GO:0006833	Process	Water transport	TAS
GO:0006884	Process	Cell volume homeostasis	IMP	11922632
GO:0006972	Process	Hyperosmotic response	IBA	21873635
GO:0008519	Function	Ammonium transmembrane transporter activity	IBA	21873635
GO:0008519	Function	Ammonium transmembrane transporter activity	IDA	19273840
GO:0009925	Component	Basal plasma membrane	IDA	17409744
GO:0009992	Process	Cellular water homeostasis	IDA	21251984
GO:0015079	Function	Potassium ion transmembrane transporter activity	ISS
GO:0015168	Function	Glycerol transmembrane transporter activity	IBA	21873635
GO:0015168	Function	Glycerol transmembrane transporter activity	IDA	7491270, 8584435
GO:0015250	Function	Water channel activity	EXP	1373524, 1510932, 11034202, 14701836, 18202181
GO:0015250	Function	Water channel activity	IBA	21873635
GO:0015250	Function	Water channel activity	IDA	12801959, 21251984
GO:0015250	Function	Water channel activity	IMP	19424603
GO:0015670	Process	Carbon dioxide transport	IDA	12745312, 16574458, 19273840
GO:0015696	Process	Ammonium transport	IDA	16574458, 19273840
GO:0015701	Process	Bicarbonate transport	TAS
GO:0015793	Process	Glycerol transport	IDA	7491270, 8584435
GO:0016021	Component	Integral component of membrane	IBA	21873635
GO:0016323	Component	Basolateral plasma membrane	IDA	9013443, 9096382, 12766090, 12801959, 16133142, 16814974, 18617525
GO:0016324	Component	Apical plasma membrane	IDA	9013443, 9096382, 12766090, 12801959, 16133142, 17890385, 18617525
GO:0019725	Process	Cellular homeostasis	IDA	19268465
GO:0019934	Process	CGMP-mediated signaling	IDA	14561230
GO:0020005	Component	Symbiont-containing vacuole membrane	IDA	18665841
GO:0021670	Process	Lateral ventricle development	IEP	16133142
GO:0022857	Function	Transmembrane transporter activity	IDA	17012249
GO:0030157	Process	Pancreatic juice secretion	IEP	12801959
GO:0030184	Function	Nitric oxide transmembrane transporter activity	IDA	16682607
GO:0030185	Process	Nitric oxide transport	IDA	16682607
GO:0030950	Process	Establishment or maintenance of actin cytoskeleton polarity	IMP	19584911
GO:0031526	Component	Brush border membrane	IDA	9013443
GO:0031965	Component	Nuclear membrane	IDA	17645239
GO:0033326	Process	Cerebrospinal fluid secretion	IEP	16814974
GO:0034644	Process	Cellular response to UV	IDA	19424603
GO:0035377	Process	Transepithelial water transport	IDA	12766090
GO:0035378	Process	Carbon dioxide transmembrane transport	IBA	21873635
GO:0035378	Process	Carbon dioxide transmembrane transport	IDA	17012249
GO:0035379	Function	Carbon dioxide transmembrane transporter activity	IBA	21873635
GO:0035379	Function	Carbon dioxide transmembrane transporter activity	IDA	17012249
GO:0042383	Component	Sarcolemma	IDA	17409744
GO:0042476	Process	Odontogenesis	IEP	12522663
GO:0042802	Function	Identical protein binding	IPI	17632520, 25416956
GO:0043066	Process	Negative regulation of apoptotic process	IDA	16565507
GO:0043154	Process	Negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	21215257
GO:0045177	Component	Apical part of cell	IDA	14675051
GO:0045766	Process	Positive regulation of angiogenesis	IMP	18275976
GO:0046878	Process	Positive regulation of saliva secretion	IMP	9096382, 15727941
GO:0048146	Process	Positive regulation of fibroblast proliferation	IDA	16565507
GO:0050829	Process	Defense response to Gram-negative bacterium	IMP	18665841
GO:0050891	Process	Multicellular organismal water homeostasis	IEP	17645239
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070062	Component	Extracellular exosome	IDA	15326289
GO:0070301	Process	Cellular response to hydrogen peroxide	IDA	19424603
GO:0071241	Process	Cellular response to inorganic substance	IDA	14561230
GO:0071260	Process	Cellular response to mechanical stimulus	IDA	19268465
GO:0071280	Process	Cellular response to copper ion	IDA	7491270, 8584435
GO:0071288	Process	Cellular response to mercury ion	IDA	7491270, 8584435, 9321919, 12172703, 12745312
GO:0071300	Process	Cellular response to retinoic acid	IDA	12051745, 19424603
GO:0071320	Process	Cellular response to cAMP	IDA	18538351
GO:0071320	Process	Cellular response to cAMP	IEP	17636236
GO:0071456	Process	Cellular response to hypoxia	IDA	18275976
GO:0071472	Process	Cellular response to salt stress	IDA	18509662
GO:0071474	Process	Cellular hyperosmotic response	IMP	11922632
GO:0071549	Process	Cellular response to dexamethasone stimulus	IDA	16711029
GO:0071732	Process	Cellular response to nitric oxide	IDA	14561230
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0072488	Process	Ammonium transmembrane transport	IEA
GO:0085018	Process	Maintenance of symbiont-containing vacuole by host	IMP	18665841

Other IDs

• MIM: 107776
• HGNC: 633
• e!Ensembl: ENSG00000240583

Protein

• UniProt ID: P29972
• Protein name: Aquaporin-1 (AQP-1) (Aquaporin-CHIP) (Channel-like integral membrane protein of 28 kDa) (Urine water channel)
• Protein function: Forms a water channel that facilitates the transport of water across cell membranes, playing a crucial role in water homeostasis in various tissues (PubMed:1373524, PubMed:23219802). Could also be permeable to small solutes including hydrogen pe
• PDB: 1FQY, 1H6I, 1IH5, 4CSK, 6POJ, 7UZE, 8CT2, 8CTE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00230	MIP	4 → 227	Major intrinsic protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in erythrocytes (at protein level). Expressed in a number of tissues including erythrocytes, renal tubules, retinal pigment epithelium, heart, lung, skeletal muscle, kidney and pancreas. Weakly expressed in brain, placenta and
• Sequence:

  MASEFKKKLFWRAVVAEFLATTLFVFISIGSALGFKYPVGNNQTAVQDNVKVSLAFGLSI
  ATLAQSVGHISGAHLNPAVTLGLLLSCQISIFRALMYIIAQCVGAIVATAILSGITSSLT
  GNSLGRNDLADGVNSGQGLGIEIIGTLQLVLCVLATTDRRRRDLGGSAPLAIGLSVALGH
  LLAIDYTGCGINPARSFGSAVITHNFSNHWIFWVGPFIGGALAVLIYDFILAPRSSDLTD
  RVKVWTSGQVEEYDLDADDINSRVEMKPK

• Sequence length: 269

Pathways

KEGG:

Renin secretion
Proximal tubule bicarbonate reclamation
Bile secretion

Reactome:

Erythrocytes take up carbon dioxide and release oxygen
Erythrocytes take up oxygen and release carbon dioxide
Vasopressin regulates renal water homeostasis via Aquaporins
Passive transport by Aquaporins

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Adenocarcinoma	Adenoid Cystic Carcinoma	rs121913530, rs886039394, rs121913474	16762588
Carcinoma	Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	12376462
Hypertension	Hypertensive disease	rs13306026	22228705
Hyperthyroidism	Hyperthyroidism, Primary Hyperthyroidism	rs121908861, rs121908864, rs121908874, rs121908875, rs121908876, rs121908877, rs121908873, rs121908880, rs121908883, rs121909258, rs6256, rs869312167	12621104
Polycystic kidney disease	Autosomal Recessive Polycystic Kidney Disease	rs119103233, rs886041027, rs886041028, rs137852944, rs28937907, rs137852947, rs137852948, rs137852949, rs137852950, rs267607048, rs2147483647, rs199476094, rs1567154953, rs199476095, rs199476096, rs199476097, rs199476098, rs1218054241, rs1567192790, rs1567204631, rs199476100, rs199476101, rs199476102, rs1555728968, rs774233325, rs757957327, rs121918519, rs121918520, rs1555725707, rs121918039, rs121918040, rs121918041, rs1560598042, rs121918042, rs757757289, rs121918043, rs1560621750, rs376586707, rs398122932, rs398123308, rs398124475, rs398124476, rs398124478, rs398124480, rs398124483, rs398124484, rs398124486, rs398124487, rs398124495, rs398124496, rs398124498, rs398124500, rs398124501, rs398124502, rs398124503, rs724159823, rs141178995, rs724159826, rs368263958, rs727504089, rs727504096, rs746838237, rs727504087, rs786204241, rs200391019, rs746471701, rs771623148, rs148617572, rs786204688, rs181208607, rs200179145, rs142107837, rs786204707, rs745770404, rs786204696, rs749293235, rs754392766, rs786204749, rs786204588, rs148812376, rs752868449, rs773136605, rs797044713, rs794727566, rs794727572, rs771180444, rs794727680, rs797044745, rs794727759, rs781368899, rs796052133, rs797045101, rs797044902, rs863224528, rs751527253, rs869312944, rs869312977, rs869312978, rs886039888, rs886040959, rs58606740, rs770461067, rs886041836, rs886042676, rs748365248, rs760222236, rs886061616, rs886061619, rs886061623, rs1057516041, rs1057516201, rs1057516202, rs1057516206, rs1057517324, rs199839578, rs1057517047, rs1057516652, rs1057516345, rs1057517326, rs1057516835, rs1057517249, rs760260903, rs1057517071, rs757099749, rs1057517357, rs751754608, rs1057516577, rs1057516445, rs1057516413, rs1057517387, rs1057517244, rs749768205, rs1057516775, rs1057516490, rs1057516607, rs1057516690, rs1057517078, rs1057516751, rs1057516588, rs1057516596, rs1057516221, rs1057516441, rs760921148, rs1057516706, rs1057517378, rs1057516804, rs1057516407, rs777999875, rs774759689, rs1057516692, rs1057516885, rs267601070, rs1057516626, rs1057516263, rs1057516691, rs1057516382, rs778537772, rs1057516594, rs1057517273, rs1057516762, rs1057516982, rs1057516922, rs774250209, rs1057516872, rs1057516283, rs1057517394, rs1057516562, rs1057516709, rs1057517158, rs1057516608, rs1057516975, rs1057517178, rs1057516768, rs757521428, rs1057516697, rs1057517270, rs773991918, rs1057517220, rs1057518604, rs1057518906, rs1057518797, rs1057518969, rs1057518959, rs1057518897, rs1057518783, rs566014072, rs1057518899, rs1057518923, rs180675584, rs1057524563, rs200001068, rs1553924174, rs1060499718, rs369825780, rs1060499704, rs1060499702, rs539793378, rs1060499699, rs1060503526, rs751084512, rs369925690, rs1060501356, rs1064796287, rs1064794206, rs1064797205, rs1114167370, rs1114167366, rs1555452653, rs1020621286, rs1131692280, rs1135401753, rs555349004, rs1135402754, rs1135402755, rs1135402756, rs757946548, rs1555455453, rs1555456661, rs1553924173, rs1553925470, rs1210846081, rs1554218506, rs1045675831, rs1555444334, rs766551411, rs1555445192, rs1325300747, rs777460677, rs1555450424, rs1555451093, rs1555451280, rs1222094213, rs1555453360, rs752114168, rs1555453872, rs1555454145, rs1555454411, rs1555454512, rs1555454604, rs1555455998, rs747483368, rs750798165, rs1553928730, rs1554282540, rs1555446053, rs745912756, rs1555447196, rs1453883641, rs1555454886, rs1555457482, rs1553923513, rs867092741, rs1555446576, rs1555454353, rs1555456139, rs1555457446, rs1555458032, rs1555462463, rs1555450968, rs1555444715, rs1261505725, rs1232369409, rs1553925453, rs1553926929, rs1553927783, rs755226061, rs1555444985, rs1161012209, rs1555445274, rs1555445771, rs1555446411, rs1555451143, rs1555451430, rs1555453395, rs1555455457, rs1555456208, rs1555459108, rs1555462438, rs1555445999, rs1555457807, rs1553927436, rs1555454373, rs1553926509, rs1553926905, rs1187336837, rs1553927080, rs1554194574, rs1344820986, rs1246693314, rs1554167673, rs1554183398, rs1554183559, rs1554144359, rs1555444249, rs1555450475, rs1555448106, rs1555446033, rs1555454915, rs1286585831, rs780009030, rs201082169, rs1555728990, rs1554204054, rs1554212326, rs910497248, rs1554198072, rs1555453207, rs1554223950, rs1554220431, rs1555454460, rs367678592, rs1555447011, rs1553925459, rs1553925467, rs1554236269, rs1554263076, rs1555445585, rs1555446582, rs1555446637, rs1555447057, rs1420757773, rs1555450920, rs762003393, rs1555454075, rs1555454606, rs1555455797, rs1555456744, rs1401015526, rs1555459001, rs1555459084, rs1282205691, rs1553927823, rs777269070, rs369678636, rs1555454739, rs1302726543, rs1554198780, rs758732107, rs747322128, rs1554200780, rs1358948221, rs1555452400, rs144193508, rs1488844530, rs1554169567, rs1554174796, rs1554176343, rs1554183235, rs1554183240, rs1554216538, rs770068023, rs1554221465, rs1554232224, rs1334913120, rs1554191298, rs1554194504, rs770522674, rs1554197152, rs868673401, rs1554210085, rs1554213853, rs1554227278, rs1554228601, rs1554183012, rs1554183763, rs765209037, rs1554217691, rs1554218666, rs759851475, rs1554174903, rs1554176517, rs1554183204, rs1554243821, rs1554289495, rs1554183320, rs1554133736, rs1554218519, rs1554218926, rs1405067373, rs1351918391, rs1554199349, rs1160209891, rs1554183446, rs1554183480, rs1554183588, rs1554208257, rs1554209188, rs1554216499, rs1554271235, rs1554223403, rs1554282419, rs1554224707, rs1554227162, rs1554216571, rs1554229312, rs1554299291, rs376987651, rs1340926191, rs1554132790, rs1554194511, rs1554270880, rs1554198717, rs1554199226, rs1554200778, rs1240212722, rs776060304, rs747895516, rs1554134080, rs1554211308, rs758352210, rs1554212403, rs748540413, rs1554207834, rs750730042, rs1554219449, rs753492974, rs1554222939, rs1554219429, rs1554222508, rs775511838, rs1555452849, rs1554162725, rs1554227215, rs1567155145, rs1567159074, rs1567177684, rs1567200516, rs1567173924, rs1324209174, rs1485297878, rs1560626561, rs1264176877, rs2432403, rs1560626499, rs1567176750, rs1567180640, rs752024467, rs1567204146, rs1567153758, rs1567210630, rs1352019198, rs555242193, rs1567195059, rs1371793191, rs1616940, rs1567212531, rs1567186165, rs749004212, rs1167476946, rs1567215646, rs755496450, rs1567195285, rs1567169638, rs1391596181, rs1561920869, rs764696718, rs146649803, rs1560592253, rs1561921358, rs775638588, rs1560632930, rs1567153194, rs1197421698, rs1567166045, rs1567174997, rs1567180636, rs1567186946, rs1567191601, rs1567191609, rs1567192229, rs1567200117, rs1567202750, rs778028967, rs1567210080, rs775710328, rs750723025, rs1567191179, rs1567219527, rs1562221540, rs769559267, rs868562051, rs752305132, rs760426769, rs1562581286, rs1560608729, rs1560620277, rs1560628245, rs1567146946, rs1567165997, rs750780241, rs1567202350, rs1567206904, rs1567216323, rs1567219111, rs1377414968, rs1578144898, rs778235410, rs1181168635, rs1567155179, rs1361283193, rs1364976535, rs1567182193, rs1567184366, rs1567187445, rs1567191534, rs1567196314, rs1567201083, rs774453006, rs144513458, rs1567192286, rs1567190244, rs773129632, rs1560617356, rs1273202231, rs1567196052, rs1325403863, rs1592341222, rs199568593, rs765390756, rs780182068, rs148300854, rs765652131, rs1562140771, rs779050294, rs557437764, rs1485161784, rs752327566, rs1578130597, rs1578135829, rs1582469538, rs1582470309, rs1596472276, rs1596473420, rs1596485727, rs200001471, rs1596557533, rs1205064584, rs1355372474, rs780351760, rs1578130676, rs1578139269, rs200432861, rs1581808463, rs1581827172, rs367707903, rs764431330, rs1596512729, rs1596520985, rs1596522636, rs1596523677, rs757768731, rs750913623, rs1596557065, rs1596558405, rs1238351274, rs1567200098, rs1596560540, rs1596575646, rs1596591955, rs1583202788, rs753471298, rs1596536505, rs112915100, rs1581812192, rs1596525695, rs1596551138, rs1578135823, rs1578111620, rs1334145215, rs1582436832, rs1242089464, rs775628123, rs1583013487, rs1583053996, rs1583054534, rs1581727260, rs1581806935, rs767737392, rs1581956689, rs1278235097, rs754038777, rs1582064844, rs1295732689, rs1596536546, rs145877597, rs1581910835, rs1203260419, rs1581999471, rs1596475487, rs747638599, rs1596557266, rs34495017, rs1596561773, rs1596574774, rs1174034883, rs1596580483, rs794727756, rs1578111345, rs1578135870, rs1276594505, rs1596481464, rs1596501760, rs377029031, rs138871063, rs1596548114, rs1596556800, rs202110519, rs555703777, rs1596582948, rs1582441668, rs1596482597, rs1578111778, rs1578118330, rs1578129049, rs886041114, rs1578144873, rs1578147448, rs756212622, rs1596480112, rs1327414405, rs1596488823, rs1596503384, rs1596514027, rs1596527579, rs1555453244, rs1312494071, rs1596553527, rs1596556375, rs1596557742, rs145263744, rs1596563657, rs1596588978, rs1581910796, rs754626014, rs1183281205, rs752889346, rs765020336, rs1582479341, rs779168950, rs746625317, rs1582925274, rs1583203255, rs1581726525, rs1581763359, rs908880474, rs1464962854, rs1226122841, rs1581810497, rs1581974348, rs780898021, rs1581992845, rs1582002018, rs1582013246, rs1582053820, rs1582085757, rs1350620976, rs1582154630, rs1596574987, rs1578111378, rs1578141765, rs1446729264, rs764447736, rs1578118371, rs1578142941, rs1596485991, rs1596514864, rs1596527744, rs1596566156, rs1416011785, rs747170980, rs1768958447, rs765934021, rs1772510920, rs1785437689, rs1790936941, rs1473182306, rs1436814142, rs1782064827, rs1782629977, rs774290802, rs1313206550, rs779028446, rs1433540169, rs1802073525, rs1802504786, rs1802523270, rs1805754682, rs776845008, rs1809305398, rs1810924520, rs1781631365, rs1803834984, rs774050795, rs2092203712, rs1452322332, rs753261451, rs2092939625, rs1726231891, rs1726245372, rs1726673986, rs1727326556, rs1727420867, rs1727421192, rs1727790591, rs776718970, rs1720855394, rs2091395464, rs2091400717, rs2091472604, rs2091483332, rs1555445229, rs2091600536, rs2091614437, rs2091619053, rs2091620763, rs2091668243, rs2092026801, rs2092206577, rs779516086, rs151308544, rs2092301272, rs778979740, rs2092333316, rs2092341848, rs2092343570, rs2092347343, rs765688834, rs546354639, rs1485307916, rs762911981, rs2092458566, rs2092471431, rs2047525622, rs2092479999, rs2092485909, rs2092503169, rs2092503653, rs755084885, rs1231492796, rs2092598385, rs2092604612, rs2092615974, rs2092660457, rs2092665584, rs2092667308, rs2092672595, rs2092679105, rs2092683596, rs2092941253, rs2091453268, rs2091612821, rs2092263886, rs2092614697, rs2092646077, rs2092684358	18988797
Pulmonary hypertension	Familial primary pulmonary hypertension	rs5030847, rs5030850, rs753751183, rs121912592, rs121912593, rs121912596, rs121918359, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852747, rs137852748, rs137852749, rs137852750, rs137852751, rs137852752, rs137852753, rs483352902, rs137852756, rs1559129372, rs587777017, rs879255566, rs397514716, rs398123039, rs398123041, rs398123042, rs398123043, rs199475679, rs587780295, rs863223423, rs863223426, rs863223424, rs863223420, rs863223422, rs758683062, rs869025366, rs869025367, rs876657748, rs878854272, rs886039219, rs886039223, rs886039220, rs886039221, rs886039222, rs886039673, rs886041324, rs369061090, rs200214298, rs758724746, rs1060502576, rs1060502581, rs1060502584, rs1064794258, rs1085307144, rs1085307145, rs1085307146, rs1085307148, rs1085307147, rs1085307149, rs1085307150, rs1085307151, rs1085307152, rs1085307153, rs1085307154, rs370120266, rs1085307155, rs1085307156, rs1085307157, rs1085307158, rs1085307159, rs1085307160, rs1085307161, rs1085307162, rs1085307163, rs1085307164, rs1085307165, rs1085307166, rs1085307169, rs1085307170, rs1085307171, rs1085307172, rs1553503200, rs1085307173, rs1085307174, rs1085307175, rs1085307176, rs1085307177, rs1085307178, rs1085307179, rs1085307180, rs1085307181, rs1085307182, rs1085307184, rs1085307185, rs1085307186, rs1085307187, rs1085307188, rs1085307190, rs1085307191, rs1553503473, rs1085307192, rs368090069, rs1085307193, rs1085307194, rs1085307195, rs1085307196, rs1085307197, rs1085307198, rs1085307199, rs1085307201, rs1085307202, rs1085307203, rs1085307204, rs1085307205, rs1085307208, rs1085307209, rs1085307210, rs1085307211, rs1085307212, rs1085307213, rs1085307214, rs1085307215, rs1085307216, rs1085307217, rs1085307219, rs1085307220, rs1085307221, rs1085307222, rs1085307223, rs1085307224, rs1085307225, rs1085307226, rs1085307227, rs1085307228, rs1085307229, rs1085307230, rs1085307231, rs1085307232, rs1085307233, rs1085307234, rs1085307235, rs1085307236, rs1085307237, rs1085307239, rs1085307240, rs1085307242, rs1085307243, rs1085307245, rs1085307246, rs1085307247, rs1085307248, rs1085307249, rs1085307250, rs1085307251, rs1085307252, rs1085307253, rs1085307254, rs1085307255, rs1085307256, rs1085307257, rs1085307258, rs1085307259, rs1085307260, rs1085307261, rs1085307262, rs1085307263, rs1085307265, rs1085307266, rs1085307267, rs1085307268, rs576091247, rs1085307269, rs1085307270, rs1085307271, rs1085307272, rs200948870, rs1085307273, rs1085307275, rs1085307276, rs1085307277, rs1085307278, rs1085307279, rs1085307281, rs1085307282, rs1085307283, rs1085307284, rs1085307285, rs1085307286, rs1085307287, rs1085307290, rs1085307291, rs1085307292, rs1085307294, rs1085307295, rs1085307296, rs1085307297, rs1085307298, rs1085307301, rs748230358, rs1085307303, rs1085307304, rs1085307306, rs1085307307, rs1085307308, rs1085307311, rs946132834, rs1085307313, rs1085307315, rs1085307316, rs1085307317, rs1085307318, rs1553509997, rs1085307319, rs1085307320, rs1085307321, rs1085307322, rs1085307324, rs1085307325, rs1085307326, rs1085307327, rs1085307328, rs767070218, rs1085307329, rs1085307330, rs1085307331, rs1085307332, rs1085307333, rs1085307334, rs1085307335, rs1085307336, rs1085307337, rs1085307338, rs868369541, rs1085307339, rs1085307340, rs1085307342, rs1085307343, rs1085307344, rs1085307345, rs1085307346, rs1085307347, rs1085307348, rs1085307349, rs1085307350, rs1085307351, rs1085307352, rs1085307353, rs937502048, rs1085307355, rs1085307356, rs1085307357, rs1085307358, rs1085307359, rs1085307360, rs1085307361, rs1085307362, rs780722371, rs1085307363, rs1085307365, rs1085307366, rs759990771, rs765887545, rs777458559, rs1085307369, rs1085307370, rs1085307371, rs1085307372, rs759293027, rs1085307373, rs1085307374, rs1085307375, rs1085307376, rs1085307377, rs1085307378, rs1085307379, rs1085307380, rs1085307381, rs1085307382, rs1085307383, rs1085307384, rs1085307385, rs1085307386, rs1085307387, rs1085307389, rs1085307388, rs1085307390, rs1085307391, rs1085307392, rs1085307393, rs1085307394, rs1085307395, rs1006246556, rs1085307396, rs1085307397, rs1085307398, rs1085307399, rs1085307400, rs769603144, rs1085307401, rs1085307402, rs1085307403, rs1085307438, rs1085307436, rs1085307410, rs1085307411, rs1085307412, rs1085307414, rs1085307417, rs1085307419, rs1085307425, rs1085307426, rs121909288, rs1085307183, rs1085307218, rs1085307238, rs1085307302, rs1085307310, rs772497399, rs1326644714, rs1553509984, rs1553508321, rs1288123680, rs1375304341, rs1553509983, rs770716081, rs1553387422, rs1555883342, rs754897911, rs1553512225, rs1275489342, rs202107577, rs201407486, rs1414143303, rs764384490, rs765484849, rs1318756445, rs1290474919, rs772782772, rs767575696, rs1374322297, rs1559073178, rs1559062859, rs1574505369, rs1574506470, rs1574506949, rs201716417, rs767694281, rs1574548003, rs1603248606, rs1603255224, rs1574464060, rs1574506914, rs1603248167, rs1603255327, rs1603256095, rs1574499954, rs1692288591, rs1687663690, rs1688559190, rs1698355880, rs1264586092	29650961

Unknown
Disease term	Disease name	Evidence	References	Source
Pulmonary arterial hypertension	pulmonary arterial hypertension			GenCC
Huntington Disease	Huntington Disease			GWAS
Nephrolithiasis	Nephrolithiasis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acute Kidney Injury	Associate	36285332
Acute Lung Injury	Associate	36142499
Adenocarcinoma	Associate	27817002, 37991139
Adenocarcinoma Mucinous	Associate	30022455
Adenoma	Associate	12200552
Adrenal Insufficiency	Associate	27996967
Alopecia	Associate	30840592
Alzheimer Disease	Associate	18509662, 21034535, 26919570, 37549144
Anemia Hemolytic	Associate	30840592
Anemia Sickle Cell	Associate	34014839
Appendiceal Neoplasms	Associate	28762291
Appendicitis	Associate	28762291
Astrocytoma	Associate	12237771, 29485906, 38307919
Atherosclerosis	Associate	26717516, 29301341
Biliary Atresia	Associate	34392560
Brain Diseases	Associate	18509662
Brain Edema	Associate	23361277
Brain Neoplasms	Associate	12237771
Brain Neoplasms	Inhibit	30378011
Breast Neoplasms	Associate	26812884, 29538612, 37681917
Calcinosis Cutis	Associate	12237771, 30378011
Carcinogenesis	Associate	35024730
Carcinoma Adenoid Cystic	Associate	21551254, 24493792
Carcinoma Bronchogenic	Associate	14978691
Carcinoma Endometrioid	Associate	30022455
Carcinoma Hepatocellular	Associate	35024730
Carcinoma Non Small Cell Lung	Associate	21548930
Carcinoma Renal Cell	Stimulate	20375178
Carcinoma Renal Cell	Associate	25987071, 26181025, 31140607, 35245343, 35955933, 36254092
Carcinoma Renal Cell	Inhibit	30022455
Cardiovascular Diseases	Associate	29301341
Cartilage Diseases	Associate	34737423
Cataract	Associate	27497833
Cataract	Stimulate	35262732
Cataract Age Related Nuclear	Associate	35262732
Central Nervous System Neoplasms	Associate	23361277
Chronic Kidney Disease Mineral and Bone Disorder	Associate	35962640
Colitis Ulcerative	Associate	37090740
Colonic Neoplasms	Associate	26912239, 31477744
Colorectal Neoplasms	Associate	19787701, 26912239, 31903985, 37175233, 37334171
Colorectal Neoplasms	Inhibit	30739527
Creutzfeldt Jakob Syndrome	Associate	18509662
Cystic Fibrosis	Associate	20224214
Cysts	Associate	26838488
Diabetes Mellitus	Associate	32099032, 35262732
Drug Related Side Effects and Adverse Reactions	Associate	30840592
Edema	Associate	23361277
Edema	Inhibit	26261083
Edema	Stimulate	27487831
Encephalitis Herpes Simplex	Associate	24918928
Endometriosis	Associate	35585523
Epiretinal Membrane	Associate	24688444
Essential Hypertension	Associate	37223008
Fibrocartilaginous embolism	Associate	33528024
Fuchs' Endothelial Dystrophy	Associate	36773096
Glaucoma	Associate	25484221
Glaucoma Angle Closure	Stimulate	33616622
Glaucoma Open Angle	Stimulate	33616622
Glioblastoma	Associate	32253832
Glioma	Associate	17549682, 27157540, 38307919
Glioma	Stimulate	23361277
Glioma Subependymal	Associate	26115524
Glycogen Storage Disease	Associate	36613675
Heart Diseases	Associate	35151337
Hepatitis Alcoholic	Associate	40649881
Hydrocephalus	Associate	34597351
Hydronephrosis	Associate	29028084
Hyperglycemia	Associate	34627746
Hypertension	Associate	32099032
Hypesthesia	Associate	29593724
Hypoxia	Associate	30378011
Infections	Associate	24028651, 28762291
Inflammation	Inhibit	26717516
Inflammation	Associate	28762291, 29301341
Intervertebral Disc Degeneration	Associate	25299207, 33528024, 39962475
Intracranial Hypertension	Stimulate	27487831
Kidney Neoplasms	Associate	20375178
Klatskin Tumor	Associate	27143047
Leukemia Erythroblastic Acute	Associate	25252847
Leukopenia	Associate	30840592
Lung Neoplasms	Associate	26681011
Lymphatic Metastasis	Stimulate	24918928, 25987071
Lymphatic Metastasis	Associate	27143047, 31903985, 32899018, 37334171
Malaria Cerebral	Associate	35151337
MASS syndrome	Associate	20375178
Melanoma	Associate	30378011
Melanoma Cutaneous Malignant	Associate	30378011
Mesothelioma Malignant	Associate	22020536, 29495596, 30840592
Multiple Myeloma	Associate	11380407
Multiple Sclerosis	Associate	18509662
Neoplasm Metastasis	Associate	26912239, 27157540, 29258764
Neoplasm Metastasis	Stimulate	32665038
Neoplasms	Associate	19787701, 20375178, 22020536, 22901156, 23361277, 24493792, 24918928, 25987071, 26115524, 26812884, 26912239, 27143047, 27817002, 29495596, 29538612, 30378011, 31477744, 31903985, 32075009, 32253832, 32899018, 35955933, 37334171
Neoplasms	Inhibit	37761834
Nephrolithiasis	Associate	22396660
Nephrotic Syndrome	Associate	26261083
Neuralgia	Associate	29593724
Neurodegenerative Diseases	Associate	25299207, 26919570, 39962475
Osteoarthritis	Associate	18775662, 28827734, 29393494
Ovarian Neoplasms	Associate	29472315, 30022455
Pain	Associate	29593724, 30840592
Pancreatic Neoplasms	Associate	37761834
Parkinson Disease	Associate	26919570
Polycystic Kidney Diseases	Associate	31658328
Polycystic liver disease	Associate	26838488
Porphyria Acute Intermittent	Stimulate	20224214
Prostatic Neoplasms	Associate	27817002
Protoporphyria Erythropoietic	Stimulate	22020536
Pulmonary Arterial Hypertension	Associate	29650961, 35346192
Rectal Neoplasms	Associate	32576929
Salivary Gland Neoplasms	Associate	32075009
Sarcoma	Associate	29258764
Sepsis	Associate	24028651
Shock Septic	Stimulate	24028651
Signs and Symptoms	Stimulate	27996967
Sjogren's Syndrome	Inhibit	12429814
Stomach Neoplasms	Associate	29678898, 32899018
Thrombocytopenia	Associate	30840592
Thyroid Cancer Papillary	Inhibit	20375178
Tooth Loss	Associate	29593724
Urinary Bladder Diseases	Associate	25987071
Uterine Cervical Neoplasms	Associate	22901156, 24918928
Uterine Cervicitis	Associate	22901156
Vascular Diseases	Associate	29301341
Vascular System Injuries	Associate	23951234
Vitreoretinopathy Proliferative	Associate	24688444
Wilms Tumor	Associate	37904849
Xerostomia	Associate	28072927, 29593724