AGGF1 (angiogenic factor with G-patch and FHA domains 1)

Gene

• Entrez ID: 55109
• Gene name: Angiogenic factor with G-patch and FHA domains 1
• Gene symbol: AGGF1
• Synonyms (NCBI Gene): GPATC7, GPATCH7, HSU84971, HUS84971, VG5Q
• Chromosome: 5
• Chromosome location: 5q13.3
• Summary: This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019345	hsa-miR-148b-3p	Microarray	17612493
MIRT030831	hsa-miR-21-5p	Microarray	18591254
MIRT049919	hsa-miR-30a-3p	CLASH	23622248
MIRT037003	hsa-miR-877-3p	CLASH	23622248
MIRT097311	hsa-miR-4307	PAR-CLIP	22100165
MIRT446935	hsa-miR-95-5p	PAR-CLIP	22100165
MIRT446934	hsa-miR-27b-5p	PAR-CLIP	22100165
MIRT446933	hsa-miR-5008-5p	PAR-CLIP	22100165
MIRT446932	hsa-miR-6089	PAR-CLIP	22100165
MIRT446931	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT446929	hsa-miR-6765-5p	PAR-CLIP	22100165
MIRT446930	hsa-miR-1304-5p	PAR-CLIP	22100165
MIRT446928	hsa-miR-1305	PAR-CLIP	22100165
MIRT446935	hsa-miR-95-5p	PAR-CLIP	22100165
MIRT446934	hsa-miR-27b-5p	PAR-CLIP	22100165
MIRT446933	hsa-miR-5008-5p	PAR-CLIP	22100165
MIRT446932	hsa-miR-6089	PAR-CLIP	22100165
MIRT446931	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT446929	hsa-miR-6765-5p	PAR-CLIP	22100165
MIRT446930	hsa-miR-1304-5p	PAR-CLIP	22100165
MIRT446928	hsa-miR-1305	PAR-CLIP	22100165
MIRT097311	hsa-miR-4307	PAR-CLIP	22100165
MIRT446935	hsa-miR-95-5p	PAR-CLIP	22100165
MIRT446934	hsa-miR-27b-5p	PAR-CLIP	22100165
MIRT446933	hsa-miR-5008-5p	PAR-CLIP	22100165
MIRT446932	hsa-miR-6089	PAR-CLIP	22100165
MIRT446931	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT446929	hsa-miR-6765-5p	PAR-CLIP	22100165
MIRT446930	hsa-miR-1304-5p	PAR-CLIP	22100165
MIRT446928	hsa-miR-1305	PAR-CLIP	22100165
MIRT446935	hsa-miR-95-5p	PAR-CLIP	22100165
MIRT446934	hsa-miR-27b-5p	PAR-CLIP	22100165
MIRT446933	hsa-miR-5008-5p	PAR-CLIP	22100165
MIRT446932	hsa-miR-6089	PAR-CLIP	22100165
MIRT446931	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT446929	hsa-miR-6765-5p	PAR-CLIP	22100165
MIRT446930	hsa-miR-1304-5p	PAR-CLIP	22100165
MIRT446928	hsa-miR-1305	PAR-CLIP	22100165
MIRT771979	hsa-miR-101	CLIP-seq
MIRT771980	hsa-miR-10a	CLIP-seq
MIRT771981	hsa-miR-10b	CLIP-seq
MIRT771982	hsa-miR-1226	CLIP-seq
MIRT771983	hsa-miR-1227	CLIP-seq
MIRT771984	hsa-miR-1273d	CLIP-seq
MIRT771985	hsa-miR-144	CLIP-seq
MIRT771986	hsa-miR-145	CLIP-seq
MIRT771987	hsa-miR-151-3p	CLIP-seq
MIRT771988	hsa-miR-181a	CLIP-seq
MIRT771989	hsa-miR-181b	CLIP-seq
MIRT771990	hsa-miR-181c	CLIP-seq
MIRT771991	hsa-miR-181d	CLIP-seq
MIRT771992	hsa-miR-1825	CLIP-seq
MIRT771993	hsa-miR-1914	CLIP-seq
MIRT771994	hsa-miR-199a-5p	CLIP-seq
MIRT771995	hsa-miR-199b-5p	CLIP-seq
MIRT771996	hsa-miR-223	CLIP-seq
MIRT771997	hsa-miR-27a	CLIP-seq
MIRT771998	hsa-miR-27b	CLIP-seq
MIRT771999	hsa-miR-29a	CLIP-seq
MIRT772000	hsa-miR-29b	CLIP-seq
MIRT772001	hsa-miR-29c	CLIP-seq
MIRT772002	hsa-miR-3065-3p	CLIP-seq
MIRT772003	hsa-miR-3591-3p	CLIP-seq
MIRT772004	hsa-miR-3605-3p	CLIP-seq
MIRT772005	hsa-miR-376c	CLIP-seq
MIRT772006	hsa-miR-412	CLIP-seq
MIRT772007	hsa-miR-4262	CLIP-seq
MIRT772008	hsa-miR-4277	CLIP-seq
MIRT772009	hsa-miR-4420	CLIP-seq
MIRT772010	hsa-miR-4427	CLIP-seq
MIRT772011	hsa-miR-4463	CLIP-seq
MIRT772012	hsa-miR-4499	CLIP-seq
MIRT772013	hsa-miR-4637	CLIP-seq
MIRT772014	hsa-miR-4728-3p	CLIP-seq
MIRT772015	hsa-miR-513a-5p	CLIP-seq
MIRT772016	hsa-miR-548u	CLIP-seq
MIRT772017	hsa-miR-570	CLIP-seq
MIRT772018	hsa-miR-587	CLIP-seq
MIRT772019	hsa-miR-606	CLIP-seq
MIRT772020	hsa-miR-634	CLIP-seq
MIRT772021	hsa-miR-875-3p	CLIP-seq
MIRT1927806	hsa-miR-1283	CLIP-seq
MIRT771986	hsa-miR-145	CLIP-seq
MIRT771992	hsa-miR-1825	CLIP-seq
MIRT1927807	hsa-miR-1912	CLIP-seq
MIRT771993	hsa-miR-1914	CLIP-seq
MIRT771994	hsa-miR-199a-5p	CLIP-seq
MIRT771995	hsa-miR-199b-5p	CLIP-seq
MIRT1927808	hsa-miR-2110	CLIP-seq
MIRT771996	hsa-miR-223	CLIP-seq
MIRT771997	hsa-miR-27a	CLIP-seq
MIRT771998	hsa-miR-27b	CLIP-seq
MIRT1927809	hsa-miR-3121-3p	CLIP-seq
MIRT1927810	hsa-miR-3150a-3p	CLIP-seq
MIRT1927811	hsa-miR-3175	CLIP-seq
MIRT1927812	hsa-miR-338-5p	CLIP-seq
MIRT1927813	hsa-miR-34b	CLIP-seq
MIRT1927814	hsa-miR-3613-3p	CLIP-seq
MIRT1927815	hsa-miR-3688-3p	CLIP-seq
MIRT772006	hsa-miR-412	CLIP-seq
MIRT1927816	hsa-miR-4260	CLIP-seq
MIRT772008	hsa-miR-4277	CLIP-seq
MIRT772009	hsa-miR-4420	CLIP-seq
MIRT1927817	hsa-miR-4443	CLIP-seq
MIRT1927818	hsa-miR-4639-3p	CLIP-seq
MIRT1927819	hsa-miR-4716-5p	CLIP-seq
MIRT1927820	hsa-miR-4775	CLIP-seq
MIRT772015	hsa-miR-513a-5p	CLIP-seq
MIRT1927821	hsa-miR-548c-3p	CLIP-seq
MIRT1927822	hsa-miR-548p	CLIP-seq
MIRT1927823	hsa-miR-590-3p	CLIP-seq
MIRT1927824	hsa-miR-615-5p	CLIP-seq
MIRT1927825	hsa-miR-633	CLIP-seq
MIRT1927826	hsa-miR-656	CLIP-seq
MIRT1927827	hsa-miR-660	CLIP-seq
MIRT1927828	hsa-miR-939	CLIP-seq
MIRT772003	hsa-miR-3591-3p	CLIP-seq
MIRT2168700	hsa-miR-4317	CLIP-seq
MIRT2168701	hsa-miR-4763-5p	CLIP-seq
MIRT772018	hsa-miR-587	CLIP-seq
MIRT1927825	hsa-miR-633	CLIP-seq
MIRT1927826	hsa-miR-656	CLIP-seq
MIRT2384000	hsa-miR-1185	CLIP-seq
MIRT2384001	hsa-miR-1224-5p	CLIP-seq
MIRT2384002	hsa-miR-1265	CLIP-seq
MIRT1927807	hsa-miR-1912	CLIP-seq
MIRT1927809	hsa-miR-3121-3p	CLIP-seq
MIRT2384003	hsa-miR-3605-5p	CLIP-seq
MIRT2384004	hsa-miR-3679-5p	CLIP-seq
MIRT1927815	hsa-miR-3688-3p	CLIP-seq
MIRT2384005	hsa-miR-3915	CLIP-seq
MIRT2384006	hsa-miR-4689	CLIP-seq
MIRT771979	hsa-miR-101	CLIP-seq
MIRT1927806	hsa-miR-1283	CLIP-seq
MIRT771985	hsa-miR-144	CLIP-seq
MIRT771997	hsa-miR-27a	CLIP-seq
MIRT771998	hsa-miR-27b	CLIP-seq
MIRT1927812	hsa-miR-338-5p	CLIP-seq
MIRT772005	hsa-miR-376c	CLIP-seq
MIRT772006	hsa-miR-412	CLIP-seq
MIRT772010	hsa-miR-4427	CLIP-seq
MIRT772014	hsa-miR-4728-3p	CLIP-seq
MIRT2471193	hsa-miR-4735-5p	CLIP-seq
MIRT1927820	hsa-miR-4775	CLIP-seq
MIRT2471194	hsa-miR-494	CLIP-seq
MIRT2471195	hsa-miR-495	CLIP-seq
MIRT772015	hsa-miR-513a-5p	CLIP-seq
MIRT772016	hsa-miR-548u	CLIP-seq
MIRT772017	hsa-miR-570	CLIP-seq
MIRT1927823	hsa-miR-590-3p	CLIP-seq
MIRT1927806	hsa-miR-1283	CLIP-seq
MIRT2674704	hsa-miR-1323	CLIP-seq
MIRT1927807	hsa-miR-1912	CLIP-seq
MIRT2674705	hsa-miR-2276	CLIP-seq
MIRT1927809	hsa-miR-3121-3p	CLIP-seq
MIRT2674706	hsa-miR-3672	CLIP-seq
MIRT1927815	hsa-miR-3688-3p	CLIP-seq
MIRT2674707	hsa-miR-3936	CLIP-seq
MIRT2168700	hsa-miR-4317	CLIP-seq
MIRT2674708	hsa-miR-4760-5p	CLIP-seq
MIRT2168701	hsa-miR-4763-5p	CLIP-seq
MIRT2674709	hsa-miR-4772-3p	CLIP-seq
MIRT2674710	hsa-miR-518a-5p	CLIP-seq
MIRT2674711	hsa-miR-527	CLIP-seq
MIRT2674712	hsa-miR-548o	CLIP-seq
MIRT2674713	hsa-miR-629	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
GATA1	Activation	19556247

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001570	Process	Vasculogenesis	TAS	15905966
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IDA	14961121
GO:0003676	Function	Nucleic acid binding	IEA
GO:0005515	Function	Protein binding	IPI	14961121, 31515488, 32296183
GO:0005576	Component	Extracellular region	IDA	14961121
GO:0005737	Component	Cytoplasm	IDA	14961121
GO:0007155	Process	Cell adhesion	IDA	14961121
GO:0045766	Process	Positive regulation of angiogenesis	IBA	21873635
GO:0045766	Process	Positive regulation of angiogenesis	IDA	14961121
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	14961121

Other IDs

• MIM: 608464
• HGNC: 24684
• e!Ensembl: ENSG00000164252

Protein

• UniProt ID: Q8N302
• Protein name: Angiogenic factor with G patch and FHA domains 1 (Angiogenic factor VG5Q) (hVG5Q) (G patch domain-containing protein 7) (Vasculogenesis gene on 5q protein)
• Protein function: Promotes angiogenesis and the proliferation of endothelial cells. Able to bind to endothelial cells and promote cell proliferation, suggesting that it may act in an autocrine fashion.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17780	OCRE	203 → 254	OCRE domain	Domain
  PF00498	FHA	434 → 508	FHA domain	Family
  PF01585	G-patch	619 → 662	G-patch domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed in endothelial cells, vascular smooth muscle cells and osteoblasts. Expressed in umbilical vein endothelial cells and microvascular endothelial cells. {ECO:0000269|PubMed:14961121}.
• Sequence:

  MASEAPSPPRSPPPPTSPEPELAQLRRKVEKLERELRSCKRQVREIEKLLHHTERLYQNA
  ESNNQELRTQVEELSKILQRGRNEDNKKSDVEVQTENHAPWSISDYFYQTYYNDVSLPNK
  VTELSDQQDQAIETSILNSKDHLQVENDAYPGTDRTENVKYRQVDHFASNSQEPASALAT
  EDTSLEGSSLAESLRAAAEAAVSQTGFSYDENTGLYFDHSTGFYYDSENQLYYDPSTGIY
  YYCDVESGRYQFHSRVDLQPYPTSSTKQSKDKKLKKKRKDPDSSATNEEKDLNSEDQKAF
  SVEHTSCNEEENFANMKKKAKIGIHHKNSPPKVTVPTSGNTIESPLHENISNSTSFKDEK
  IMETDSEPEEGEITDSQTEDSYDEAITSEGNVTAEDSEDEDEDKIWPPCIRVIVIRSPVL
  QIGSLFIITAVNPATIGREKDMEHTLRIPEVGVSKFHAEIYFDHDLQSYVLVDQGSQNGT
  IVNGKQILQPKTKCDPYVLEHGDEVKIGETVLSFHIHPGSDTCDGCEPGQVRAHLRLDKK
  DESFVGPTLSKEEKELERRKELKKIRVKYGLQNTEYEDEKTLKNPKYKDRAGKRREQVGS
  EGTFQRDDAPASVHSEITDSNKGRKMLEKMGWKKGEGLGKDGGGMKTPIQLQLRRTHAGL
  GTGKPSSFEDVHLLQNKNKKNWDKARERFTENFPETKPQKDDPGTMPWVKGTLE

• Sequence length: 714

Pathways

Reactome:

Signaling by BRAF and RAF fusions

Associated diseases

Causal
Disease term	Disease name	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
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Hemangioma	Hemangioma	rs121917766
Hydrops fetalis	Hydrops Fetalis	rs28935477, rs1131691986
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Thrombophilia	Thrombophilia	rs118203912, rs118203911, rs121918141, rs121918142, rs121918143, rs121918144, rs121918145, rs121918146, rs121918147, rs121918148, rs121918149, rs121918151, rs121918152, rs121918153, rs121918154, rs1558715857, rs121918155, rs121918157, rs121918158, rs2104934553, rs121918159, rs121918160, rs121918477, rs121918473, rs121918474, rs267606981, rs2107137679, rs121918475, rs387906674, rs387907201, rs369504169, rs142742242, rs373983977, rs368074804, rs574132670, rs757583846, rs863224838, rs121918476, rs1333329860, rs1553424043, rs1553808038, rs5017717, rs374476971, rs1553809314, rs1553423955, rs767112991, rs1558718572, rs571278160, rs766261022, rs1321566264, rs1559926604, rs1241365457, rs759677822, rs1448630830, rs1305782685, rs1571577365, rs1247269491, rs777486993, rs201907715, rs769277939, rs199469503, rs1575904540, rs199469494, rs199469471, rs1189377845, rs1576182848, rs1688218776, rs1456533664, rs1709033502, rs1708668246, rs1708665916

Unknown
Disease term	Disease name	Evidence	References	Source
Congestive heart failure	Congestive heart failure			ClinVar
Coenzyme Q10 Deficiency	Coenzyme Q10 Deficiency			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Hepatocellular	Stimulate	32090983
Cerebrovascular Disorders	Associate	29641288
Esophageal Neoplasms	Associate	31858546, 32925786
Esophageal Squamous Cell Carcinoma	Stimulate	32925786
Hypoxia	Inhibit	24462738
Hypoxia	Associate	31858546
Hypoxia Brain	Inhibit	24462738
Klippel Trenaunay Weber Syndrome	Associate	16443853, 18564129, 19556247, 29641288
Lymphatic Metastasis	Associate	32925786
Neoplasms	Associate	24462738, 31858546, 32090983, 32925786
Pre Eclampsia	Associate	32602552
Preeclamptic toxemia	Inhibit	32602552
Primary Myelofibrosis	Associate	25421114
Simpson Golabi Behmel syndrome	Associate	16443853
Stomach Neoplasms	Associate	28289272
Thrombocytopenia Platelet Dysfunction Hemolysis and Imbalanced Globin Synthesis	Inhibit	25421114
Urethral Neoplasms	Inhibit	24462738
Urinary Bladder Neoplasms	Associate	24462738
Vascular Diseases	Associate	16443853
Vascular Malformations	Associate	19556247