TEK (TEK receptor tyrosine kinase)

Gene

• Entrez ID: 7010
• Gene name: TEK receptor tyrosine kinase
• Gene symbol: TEK
• Synonyms: CD202B, GLC3E, TIE-2, TIE2, VMCM, VMCM1
• Chromosome: 9
• Chromosome location: 9p21.2
• Summary: This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronectin type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80338908	C>T	Pathogenic	Coding sequence variant, missense variant
rs80338909	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs202131936	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs387906745	G>A	Pathogenic	Missense variant, coding sequence variant
rs541217363	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, intron variant, stop gained
rs753021890	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1587545234	A>G	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006883	hsa-miR-126-3p	Luciferase reporter assay, qRT-PCR, Western blot	22867989

Transcription factors

Transcription factor	Regulation	Reference
ELF1	Activation	19674970
ELF2	Activation	10347098
GATA3	Activation	19674970

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0001525	Process	Angiogenesis	IBA	21873635
GO:0001525	Process	Angiogenesis	ISS
GO:0001666	Process	Response to hypoxia	IEA
GO:0001725	Component	Stress fiber	IDA	18425119
GO:0001934	Process	Positive regulation of protein phosphorylation	IDA	15284220
GO:0001934	Process	Positive regulation of protein phosphorylation	IMP	15985432, 18425120
GO:0001935	Process	Endothelial cell proliferation	IBA	21873635
GO:0001935	Process	Endothelial cell proliferation	ISS
GO:0001938	Process	Positive regulation of endothelial cell proliferation	TAS	18425120
GO:0001958	Process	Endochondral ossification	IEA
GO:0002040	Process	Sprouting angiogenesis	IMP	14665640
GO:0004672	Function	Protein kinase activity	TAS	8382358
GO:0004713	Function	Protein tyrosine kinase activity	IDA	11513602
GO:0004713	Function	Protein tyrosine kinase activity	TAS
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	8980223, 15893672, 15985432, 16732286, 19167335, 19451274, 19922791, 20708158
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005884	Component	Actin filament	IDA	18425119
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	IDA	19689429
GO:0005902	Component	Microvillus	IDA	19424712
GO:0005911	Component	Cell-cell junction	IDA	18425120
GO:0005925	Component	Focal adhesion	IEA
GO:0007165	Process	Signal transduction	TAS	8382358
GO:0007169	Process	Transmembrane receptor protein tyrosine kinase signaling pathway	IBA	21873635
GO:0007169	Process	Transmembrane receptor protein tyrosine kinase signaling pathway	IDA	15284220
GO:0007267	Process	Cell-cell signaling	TAS	8980225
GO:0007275	Process	Multicellular organism development	IBA	21873635
GO:0007507	Process	Heart development	ISS
GO:0009925	Component	Basal plasma membrane	IDA	18425120
GO:0009986	Component	Cell surface	IDA	19689429
GO:0010595	Process	Positive regulation of endothelial cell migration	IBA	21873635
GO:0010595	Process	Positive regulation of endothelial cell migration	IDA	15284220
GO:0010595	Process	Positive regulation of endothelial cell migration	IMP	12816861, 18425120
GO:0014068	Process	Positive regulation of phosphatidylinositol 3-kinase signaling	IBA	21873635
GO:0014068	Process	Positive regulation of phosphatidylinositol 3-kinase signaling	IMP	12816861, 18425120, 19223473
GO:0016323	Component	Basolateral plasma membrane	IDA	19424712
GO:0016324	Component	Apical plasma membrane	IDA	19424712
GO:0016525	Process	Negative regulation of angiogenesis	IMP	18425120
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	11513602
GO:0019838	Function	Growth factor binding	IEA
GO:0032878	Process	Regulation of establishment or maintenance of cell polarity	IMP	18425119
GO:0033674	Process	Positive regulation of kinase activity	IBA	21873635
GO:0034446	Process	Substrate adhesion-dependent cell spreading	IMP	18425119
GO:0034451	Component	Centriolar satellite	IDA
GO:0038023	Function	Signaling receptor activity	TAS	10766762
GO:0042802	Function	Identical protein binding	IPI	19424712
GO:0043066	Process	Negative regulation of apoptotic process	TAS	18366015
GO:0043114	Process	Regulation of vascular permeability	TAS	18366015, 18425120
GO:0043235	Component	Receptor complex	IBA	21873635
GO:0043410	Process	Positive regulation of MAPK cascade	IBA	21873635
GO:0043434	Process	Response to peptide hormone	IEA
GO:0043552	Process	Positive regulation of phosphatidylinositol 3-kinase activity	IMP	12816861, 18425120
GO:0043627	Process	Response to estrogen	IEA
GO:0045121	Component	Membrane raft	IDA	19615361
GO:0045766	Process	Positive regulation of angiogenesis	IBA	21873635
GO:0045766	Process	Positive regulation of angiogenesis	IDA	15284220
GO:0045766	Process	Positive regulation of angiogenesis	IMP	18425120
GO:0046777	Process	Protein autophosphorylation	IDA	11513602
GO:0048014	Process	Tie signaling pathway	IDA	15284220, 19223473
GO:0050728	Process	Negative regulation of inflammatory response	TAS	18366015
GO:0050900	Process	Leukocyte migration	TAS
GO:0051591	Process	Response to cAMP	IEA
GO:0051894	Process	Positive regulation of focal adhesion assembly	IMP	18425120
GO:0051897	Process	Positive regulation of protein kinase B signaling	IBA	21873635
GO:0051897	Process	Positive regulation of protein kinase B signaling	IDA	19615361
GO:0051897	Process	Positive regulation of protein kinase B signaling	IMP	18425120
GO:0060216	Process	Definitive hemopoiesis	TAS	18366015
GO:0060347	Process	Heart trabecula formation	ISS
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	19615361
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	18425120
GO:0072012	Process	Glomerulus vasculature development	ISS
GO:1902533	Process	Positive regulation of intracellular signal transduction	IMP	19223473
GO:2000251	Process	Positive regulation of actin cytoskeleton reorganization	IMP	12816861
GO:2000351	Process	Regulation of endothelial cell apoptotic process	TAS	18425120
GO:2000352	Process	Negative regulation of endothelial cell apoptotic process	ISS

Other IDs

• MIM: 600221
• HGNC: 11724
• e!Ensembl: ENSG00000120156

Protein

• UniProt ID: Q02763
• Protein name: Angiopoietin-1 receptor (EC 2.7.10.1) (Endothelial tyrosine kinase) (Tunica interna endothelial cell kinase) (Tyrosine kinase with Ig and EGF homology domains-2) (Tyrosine-protein kinase receptor TEK) (Tyrosine-protein kinase receptor TIE-2) (hTIE2) (p140 TEK) (CD antigen CD202b)
• Protein function: Tyrosine-protein kinase that acts as cell-surface receptor for ANGPT1, ANGPT2 and ANGPT4 and regulates angiogenesis, endothelial cell survival, proliferation, migration, adhesion and cell spreading, reorganization of the actin cytoskeleton, but also maintenance of vascular quiescence. Has anti-inflammatory effects by preventing the leakage of proinflammatory plasma proteins and leukocytes from blood vessels. Required for normal angiogenesis and heart development during embryogenesis. Required for post-natal hematopoiesis. After birth, activates or inhibits angiogenesis, depending on the context. Inhibits angiogenesis and promotes vascular stability in quiescent vessels, where endothelial cells have tight contacts. In quiescent vessels, ANGPT1 oligomers recruit TEK to cell-cell contacts, forming complexes with TEK molecules from adjoining cells, and this leads to preferential activation of phosphatidylinositol 3-kinase and the AKT1 signaling cascades. In migrating endothelial cells that lack cell-cell adhesions, ANGT1 recruits TEK to contacts with the extracellular matrix, leading to the formation of focal adhesion complexes, activation of PTK2/FAK and of the downstream kinases MAPK1/ERK2 and MAPK3/ERK1, and ultimately to the stimulation of sprouting angiogenesis. ANGPT1 signaling triggers receptor dimerization and autophosphorylation at specific tyrosine residues that then serve as binding sites for scaffold proteins and effectors. Signaling is modulated by ANGPT2 that has lower affinity for TEK, can promote TEK autophosphorylation in the absence of ANGPT1, but inhibits ANGPT1-mediated signaling by competing for the same binding site. Signaling is also modulated by formation of heterodimers with TIE1, and by proteolytic processing that gives rise to a soluble TEK extracellular domain. The soluble extracellular domain modulates signaling by functioning as decoy receptor for angiopoietins. TEK phosphorylates DOK2, GRB7, GRB14, PIK3R1; SHC1 and TIE1.
• PDB: 1FVR, 2GY5, 2GY7, 2OO8, 2OSC, 2P4I, 2WQB, 3BEA, 3L8P, 4K0V, 4X3J, 5MYA, 5MYB, 5UTK, 6MWE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10430	Ig_Tie2_1	24 → 118	Tie-2 Ig-like domain 1	Domain
  PF00041	fn3	445 → 530	Fibronectin type III domain	Domain
  PF00041	fn3	544 → 626	Fibronectin type III domain	Domain
  PF00041	fn3	640 → 724	Fibronectin type III domain	Domain
  PF07714	PK_Tyr_Ser-Thr	824 → 1092	Protein tyrosine and serine/threonine kinase	Domain

• Sequence:

  MDSLASLVLCGVSLLLSGTVEGAMDLILINSLPLVSDAETSLTCIASGWRPHEPITIGRD
  FEALMNQHQDPLEVTQDVTREWAKKVVWKREKASKINGAYFCEGRVRGEAIRIRTMKMRQ
  QASFLPATLTMTVDKGDNVNISFKKVLIKEEDAVIYKNGSFIHSVPRHEVPDILEVHLPH
  AQPQDAGVYSARYIGGNLFTSAFTRLIVRRCEAQKWGPECNHLCTACMNNGVCHEDTGEC
  ICPPGFMGRTCEKACELHTFGRTCKERCSGQEGCKSYVFCLPDPYGCSCATGWKGLQCNE
  ACHPGFYGPDCKLRCSCNNGEMCDRFQGCLCSPGWQGLQCEREGIQRMTPKIVDLPDHIE
  VNSGKFNPICKASGWPLPTNEEMTLVKPDGTVLHPKDFNHTDHFSVAIFTIHRILPPDSG
  VWVCSVNTVAGMVEKPFNISVKVLPKPLNAPNVIDTGHNFAVINISSEPYFGDGPIKSKK
  LLYKPVNHYEAWQHIQVTNEIVTLNYLEPRTEYELCVQLVRRGEGGEGHPGPVRRFTTAS
  IGLPPPRGLNLLPKSQTTLNLTWQPIFPSSEDDFYVEVERRSVQKSDQQNIKVPGNLTSV
  LLNNLHPREQYVVRARVNTKAQGEWSEDLTAWTLSDILPPQPENIKISNITHSSAVISWT
  ILDGYSISSITIRYKVQGKNEDQHVDVKIKNATITQYQLKGLEPETAYQVDIFAENNIGS
  SNPAFSHELVTLPESQAPADLGGGKMLLIAILGSAGMTCLTVLLAFLIILQLKRANVQRR
  MAQAFQNVREEPAVQFNSGTLALNRKVKNNPDPTIYPVLDWNDIKFQDVIGEGNFGQVLK
  ARIKKDGLRMDAAIKRMKEYASKDDHRDFAGELEVLCKLGHHPNIINLLGACEHRGYLYL
  AIEYAPHGNLLDFLRKSRVLETDPAFAIANSTASTLSSQQLLHFAADVARGMDYLSQKQF
  IHRDLAARNILVGENYVAKIADFGLSRGQEVYVKKTMGRLPVRWMAIESLNYSVYTTNSD
  VWSYGVLLWEIVSLGGTPYCGMTCAELYEKLPQGYRLEKPLNCDDEVYDLMRQCWREKPY
  ERPSFAQILVSLNRMLEERKTYVNTTLYEKFTYAGIDCSAEEAA

• Sequence length: 1124

Pathways

KEGG:

MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
HIF-1 signaling pathway
PI3K-Akt signaling pathway
Rheumatoid arthritis

Reactome:

Tie2 Signaling
RAF/MAP kinase cascade

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Iron-Refractory Iron Deficiency Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Epilepsy	Epilepsy, Temporal Lobe, Uncinate Epilepsy, Epilepsy, Benign Psychomotor, Childhood, Epilepsy, Lateral Temporal	rs113994140, rs119454947, rs28937874, rs-1, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs1805032, rs387906420, rs121917752, rs121918622, rs121434579, rs1581220270, rs281865564, rs387907313, rs397514564, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777363, rs587777364, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs1554169267, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532	17533168
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, rs-1, 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
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	29212778
Leukemia	Leukemia, Myelocytic, Acute	rs-1, rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	19340004
Glaucoma	Glaucoma, GLAUCOMA 3, PRIMARY INFANTILE, B, GLAUCOMA 3, PRIMARY CONGENITAL, E	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644	27270174
Congenital glaucoma	Primary congenital glaucoma, Congenital glaucoma	rs28936700, rs28936701, rs55989760, rs72549389, rs72549387, rs104893629, rs587778873, rs587778875, rs766425037, rs72549380, rs148542782, rs893198212, rs749073455, rs377049098, rs771076928, rs56010818, rs777678299, rs72549376
Blue rubber bleb nevus	Blue rubber bleb nevus syndrome, Blue rubber bleb nevus	rs80338909, rs1557497881	27519652
Renal carcinoma	Conventional (Clear Cell) Renal Cell Carcinoma	rs121913668, rs121913670, rs121913243, rs786202724
Venous malformation	Congenital abnormality of vein, Venous malformation, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	rs770780171	27519652, 8980225, 10369874, 19079259, 19888299
Retinal detachment	Retinal Detachment	rs1555976049, rs1592230091

Unknown
Disease name	Disease term	dbSNP ID	References
Hemangiosarcoma	Hemangiosarcoma	rs199469669	17569031
Congenital arteriovenous malformation	Congenital arteriovenous malformation
Congenital keratoglobus	Congenital keratoglobus
Glaucoma, congenital	Hydrophthalmos		27270174
Hemangioma, cavernous	Hemangioma, Cavernous
Intestinal volvulus	Intestinal Volvulus
Mouth abnormalities	Mouth Abnormalities
Mucocutaneous venous malformations	Mucocutaneous venous malformations
Ocular hypertension	Ocular Hypertension
Ovarian serous adenocarcinoma	Ovarian Serous Adenocarcinoma
Phakomatosis pigmentovascularis	Port-Wine Stain
Visceral angiomatosis	Visceral angiomatosis