PRKG1 (protein kinase cGMP-dependent 1)

Gene

• Entrez ID: 5592
• Gene name: Protein kinase cGMP-dependent 1
• Gene symbol: PRKG1
• Synonyms: AAT8, PKG, PKG1, PRKG1B, PRKGR1B, cGK, cGK 1, cGK1, cGKI, cGKI-BETA, cGKI-alpha
• Chromosome: 10
• Chromosome location: 10q11.23-q21.1
• Summary: Mammals have three different isoforms of cyclic GMP-dependent protein kinase (Ialpha, Ibeta, and II). These PRKG isoforms act as key mediators of the nitric oxide/cGMP signaling pathway and are important components of many signal transduction processes in

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs149710600	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs397515330	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT437765	hsa-miR-20a-5p	Immunocytochemistry, Luciferase reporter assay, qRT-PCR, Western blot	25447536
MIRT445697	hsa-miR-3606-5p	PAR-CLIP	22100165
MIRT445696	hsa-miR-921	PAR-CLIP	22100165
MIRT445695	hsa-miR-1273e	PAR-CLIP	22100165
MIRT445694	hsa-miR-3591-5p	PAR-CLIP	22100165
MIRT445697	hsa-miR-3606-5p	PAR-CLIP	22100165
MIRT445696	hsa-miR-921	PAR-CLIP	22100165
MIRT445695	hsa-miR-1273e	PAR-CLIP	22100165
MIRT445694	hsa-miR-3591-5p	PAR-CLIP	22100165
MIRT439895	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439895	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT445697	hsa-miR-3606-5p	PAR-CLIP	22100165
MIRT445696	hsa-miR-921	PAR-CLIP	22100165
MIRT445695	hsa-miR-1273e	PAR-CLIP	22100165
MIRT445694	hsa-miR-3591-5p	PAR-CLIP	22100165
MIRT445697	hsa-miR-3606-5p	PAR-CLIP	22100165
MIRT445696	hsa-miR-921	PAR-CLIP	22100165
MIRT445695	hsa-miR-1273e	PAR-CLIP	22100165
MIRT445694	hsa-miR-3591-5p	PAR-CLIP	22100165
MIRT1263645	hsa-miR-1257	CLIP-seq
MIRT1263646	hsa-miR-219-2-3p	CLIP-seq
MIRT1263647	hsa-miR-2355-5p	CLIP-seq
MIRT1263648	hsa-miR-2964a-3p	CLIP-seq
MIRT1263649	hsa-miR-302f	CLIP-seq
MIRT1263650	hsa-miR-3140-3p	CLIP-seq
MIRT1263651	hsa-miR-3664-5p	CLIP-seq
MIRT1263652	hsa-miR-3679-3p	CLIP-seq
MIRT1263653	hsa-miR-4286	CLIP-seq
MIRT1263654	hsa-miR-4446-5p	CLIP-seq
MIRT1263646	hsa-miR-219-2-3p	CLIP-seq
MIRT1263655	hsa-miR-298	CLIP-seq
MIRT1263656	hsa-miR-29a	CLIP-seq
MIRT1263657	hsa-miR-29b	CLIP-seq
MIRT1263658	hsa-miR-29c	CLIP-seq
MIRT1263659	hsa-miR-3182	CLIP-seq
MIRT1263660	hsa-miR-3678-3p	CLIP-seq
MIRT1263661	hsa-miR-376c	CLIP-seq
MIRT1263662	hsa-miR-4677-3p	CLIP-seq
MIRT1263663	hsa-miR-4679	CLIP-seq
MIRT1263664	hsa-miR-586	CLIP-seq
MIRT1263665	hsa-miR-622	CLIP-seq
MIRT2077591	hsa-miR-181a	CLIP-seq
MIRT2077592	hsa-miR-181b	CLIP-seq
MIRT2077593	hsa-miR-181c	CLIP-seq
MIRT2077594	hsa-miR-181d	CLIP-seq
MIRT2077595	hsa-miR-3143	CLIP-seq
MIRT2077596	hsa-miR-3671	CLIP-seq
MIRT2077597	hsa-miR-4262	CLIP-seq
MIRT2077598	hsa-miR-543	CLIP-seq
MIRT2077599	hsa-miR-607	CLIP-seq
MIRT2304122	hsa-miR-103a	CLIP-seq
MIRT2304123	hsa-miR-107	CLIP-seq
MIRT2304124	hsa-miR-1183	CLIP-seq
MIRT2304125	hsa-miR-1243	CLIP-seq
MIRT2304126	hsa-miR-1245b-3p	CLIP-seq
MIRT2304127	hsa-miR-139-5p	CLIP-seq
MIRT2304128	hsa-miR-15a	CLIP-seq
MIRT2304129	hsa-miR-15b	CLIP-seq
MIRT2304130	hsa-miR-16	CLIP-seq
MIRT2304131	hsa-miR-195	CLIP-seq
MIRT2304132	hsa-miR-2117	CLIP-seq
MIRT2304133	hsa-miR-2681	CLIP-seq
MIRT2304134	hsa-miR-365	CLIP-seq
MIRT2304135	hsa-miR-3654	CLIP-seq
MIRT2077596	hsa-miR-3671	CLIP-seq
MIRT2304136	hsa-miR-3685	CLIP-seq
MIRT2304137	hsa-miR-384	CLIP-seq
MIRT2304138	hsa-miR-3910	CLIP-seq
MIRT2304139	hsa-miR-3921	CLIP-seq
MIRT2304140	hsa-miR-424	CLIP-seq
MIRT2304141	hsa-miR-4252	CLIP-seq
MIRT2304142	hsa-miR-4256	CLIP-seq
MIRT2304143	hsa-miR-4273	CLIP-seq
MIRT2304144	hsa-miR-4653-5p	CLIP-seq
MIRT2304145	hsa-miR-4677-5p	CLIP-seq
MIRT2304146	hsa-miR-4703-3p	CLIP-seq
MIRT2304147	hsa-miR-497	CLIP-seq
MIRT2304148	hsa-miR-548an	CLIP-seq
MIRT2077599	hsa-miR-607	CLIP-seq
MIRT2601106	hsa-miR-299-5p	CLIP-seq
MIRT2601107	hsa-miR-3613-3p	CLIP-seq
MIRT2601108	hsa-miR-3613-5p	CLIP-seq
MIRT2601109	hsa-miR-4433	CLIP-seq
MIRT2601110	hsa-miR-4520a-3p	CLIP-seq
MIRT2601111	hsa-miR-4520b-3p	CLIP-seq
MIRT2601112	hsa-miR-4781-3p	CLIP-seq
MIRT2601113	hsa-miR-568	CLIP-seq
MIRT2601114	hsa-miR-659	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001764	Process	Neuron migration	IEA
GO:0004672	Function	Protein kinase activity	IMP	25447536
GO:0004692	Function	CGMP-dependent protein kinase activity	IDA	21402151
GO:0005246	Function	Calcium channel regulator activity	IDA	21402151
GO:0005515	Function	Protein binding	IPI	16990611, 18757735, 19424179, 21402151, 25416956, 31515488
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	21402151
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	21402151
GO:0006468	Process	Protein phosphorylation	IDA	15905169
GO:0007165	Process	Signal transduction	TAS	2792381
GO:0016358	Process	Dendrite development	IEA
GO:0019934	Process	CGMP-mediated signaling	IEA
GO:0030036	Process	Actin cytoskeleton organization	TAS	10851246
GO:0030553	Function	CGMP binding	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0043087	Process	Regulation of GTPase activity	IMP	14608379
GO:0060087	Process	Relaxation of vascular associated smooth muscle	IEA
GO:0090331	Process	Negative regulation of platelet aggregation	IMP	16990611
GO:1904706	Process	Negative regulation of vascular associated smooth muscle cell proliferation	IDA	25447536
GO:1904753	Process	Negative regulation of vascular associated smooth muscle cell migration	IDA	25447536

Other IDs

• MIM: 176894
• HGNC: 9414
• e!Ensembl: ENSG00000185532

Protein

• UniProt ID: Q13976
• Protein name: cGMP-dependent protein kinase 1 (cGK 1) (cGK1) (EC 2.7.11.12) (cGMP-dependent protein kinase I) (cGKI)
• Protein function: Serine/threonine protein kinase that acts as a key mediator of the nitric oxide (NO)/cGMP signaling pathway. GMP binding activates PRKG1, which phosphorylates serines and threonines on many cellular proteins. Numerous protein targets for PRKG1 p
• PDB: 1ZXA, 3NMD, 3OCP, 3OD0, 3OGJ, 4KU7, 4KU8, 4QX5, 4QXK, 4R4L, 4R4M, 4Z07, 5J48, 5JAX, 5JD7, 5L0N, 6BDL, 6BG2, 6C0T, 7LV3, 7MBJ, 7SSB, 7T4T, 7T4U, 7T4V, 7T4W
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16808	PKcGMP_CC	10 → 44	Coiled-coil N-terminus of cGMP-dependent protein kinase	Coiled-coil
  PF00027	cNMP_binding	121 → 204	Cyclic nucleotide-binding domain	Domain
  PF00027	cNMP_binding	239 → 327	Cyclic nucleotide-binding domain	Domain
  PF00069	Pkinase	360 → 619	Protein kinase domain	Domain

• Sequence:

  MSELEEDFAKILMLKEERIKELEKRLSEKEEEIQELKRKLHKCQSVLPVPSTHIGPRTTR
  AQGISAEPQTYRSFHDLRQAFRKFTKSERSKDLIKEAILDNDFMKNLELSQIQEIVDCMY
  PVEYGKDSCIIKEGDVGSLVYVMEDGKVEVTKEGVKLCTMGPGKVFGELAILYNCTRTAT
  VKTLVNVKLWAIDRQCFQTIMMRTGLIKHTEYMEFLKSVPTFQSLPEEILSKLADVLEET
  HYENGEYIIRQGARGDTFFIISKGTVNVTREDSPSEDPVFLRTLGKGDWFGEKALQGEDV
  RTANVIAAEAVTCLVIDRDSFKHLIGGLDDVSNKAYEDAEAKAKYEAEAAFFANLKLSDF
  NIIDTLGVGGFGRVELVQLKSEESKTFAMKILKKRHIVDTRQQEHIRSEKQIMQGAHSDF
  IVRLYRTFKDSKYLYMLMEACLGGELWTILRDRGSFEDSTTRFYTACVVEAFAYLHSKGI
  IYRDLKPENLILDHRGYAKLVDFGFAKKIGFGKKTWTFCGTPEYVAPEIILNKGHDISAD
  YWSLGILMYELLTGSPPFSGPDPMKTYNIILRGIDMIEFPKKIAKNAANLIKKLCRDNPS
  ERLGNLKNGVKDIQKHKWFEGFNWEGLRKGTLTPPIIPSVASPTDTSNFDSFPEDNDEPP
  PDDNSGWDIDF

• Sequence length: 671

Pathways

KEGG:

cGMP-PKG signaling pathway
Hormone signaling
Vascular smooth muscle contraction
Gap junction
Platelet activation
Circadian entrainment
Thermogenesis
Long-term depression
Olfactory transduction
Regulation of lipolysis in adipocytes
Salivary secretion

Reactome:

Rap1 signalling
cGMP effects

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Aortic aneurysm	Aortic Aneurysm, Abdominal, Aortic Aneurysm, Thoracic, AORTIC ANEURYSM, FAMILIAL THORACIC 8	rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953, rs794728021, rs8046180, rs797045725, rs876657852, rs878854466, rs886038978, rs746972765, rs886039303, rs886040965, rs886040966, rs886040967, rs886229659, rs1553781304, rs1060502531, rs1553795301, rs1553803235, rs1213452826, rs869025352, rs1553780501, rs1553785222, rs1382893400, rs1554841990, rs1430822242, rs1567692384, rs1576422965, rs1596712899, rs2059732940, rs2041090817, rs1439991530	23910461, 27442293
Aortic dissection	Dissection of aorta	rs1553507345
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	21907864
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs120074176, rs786205019	20732627
Bicuspid aortic valve	Bicuspid aortic valve	rs1569484234, rs1569484208
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, rs10520699, rs11852999, 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	29059683
Hypertension	Hypertensive disease	rs13306026, rs13333226
Migraine	Migraine Disorders	rs794727411	23793025
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	28991256, 30285260, 28540026, 26198764
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Sezary syndrome	Sezary Syndrome	rs587776632	26551667
Thoracic aortic aneurysm and aortic dissection	Familial thoracic aortic aneurysm and aortic dissection	rs121964962, rs121964964, rs5742905, rs121964969, rs28934891, rs375846341, rs121964972, rs121964973, rs587776600, rs121908172, rs121908173, rs121918714, rs104893809, rs104893815, rs104893810, rs104893811, rs104893816, rs104893817, rs104893819, rs111854391, rs113605875, rs111426349, rs267606902, rs121913552, rs267606796, rs137854458, rs137854461, rs137854463, rs137854464, rs137854466, rs112989722, rs137854476, rs137854477, rs137854478, rs137854479, rs137854480, rs137854485, rs786200923, rs113485686, rs397509370, rs121912927, rs121912923, rs121912926, rs121434526, rs121434527, rs121434528, rs387906592, rs387906606, rs387906623, rs387906697, rs387906781, rs387906782, rs387906850, rs587776881, rs387906853, rs193922183, rs193922185, rs193921256, rs112202622, rs193922198, rs193922204, rs113871094, rs147195031, rs193922236, rs397514558, rs397514590, rs397515757, rs113812345, rs25403, rs397515766, rs397515767, rs25404, rs397515774, rs397515784, rs397515788, rs397515793, rs397515805, rs397515808, rs397515811, rs397515812, rs111231312, rs113905529, rs113249837, rs397515821, rs397515823, rs397515829, rs111687884, rs113080385, rs397515848, rs397515854, rs397515867, rs397516685, rs112901682, rs397515330, rs587779450, rs587779461, rs587779471, rs587779476, rs587779478, rs587779479, rs587779482, rs587779490, rs587779504, rs397509372, rs587779518, rs587779534, rs587779536, rs587779540, rs587779550, rs587779535, rs587779563, rs587779583, rs587779584, rs587779596, rs587779604, rs587779609, rs587779500, rs587779620, rs587779625, rs587779626, rs587779541, rs587779650, rs587779671, rs112371422, rs587779685, rs587779687, rs587779691, rs587779692, rs587779695, rs587779533, rs587779706, rs587779712, rs587782948, rs587782977, rs587782979, rs587781259, rs767864243, rs146579504, rs864309481, rs370547023, rs727503476, rs727503472, rs727504292, rs727503054, rs140593, rs727503057, rs727505006, rs727504421, rs730880223, rs730880102, rs112645512, rs730880097, rs730880214, rs771298943, rs764160782, rs770095972, rs781444670, rs794727798, rs149119723, rs794728040, rs794728054, rs794728057, rs794728060, rs112602953, rs794728021, rs794728288, rs794728283, rs794728281, rs794728280, rs794728337, rs112118237, rs794728336, rs794728270, rs794728319, rs794728262, rs794728253, rs76702162, rs794728335, rs794728334, rs763091520, rs761857514, rs794728234, rs140627, rs140630, rs794728228, rs794728216, rs763449629, rs794728208, rs794728204, rs794728306, rs794728203, rs794728305, rs794728322, rs794728195, rs794728194, rs794728190, rs794728188, rs113422242, rs794728166, rs794728325, rs794728165, rs794728162, rs112660651, rs796051885, rs863223796, rs863223792, rs863223847, rs863223852, rs863223854, rs863223444, rs863223478, rs863223473, rs863223829, rs760079636, rs863223818, rs863223750, rs863223762, rs863223756, rs768713596, rs745672741, rs863223759, rs863223760, rs863223737, rs863223738, rs863223739, rs863223740, rs863223768, rs863223754, rs372010465, rs148865119, rs863224935, rs864622754, rs869025531, rs869025537, rs869025494, rs112642323, rs869025414, rs869025411, rs869025418, rs869312903, rs876657852, rs878854610, rs878854611, rs878853686, rs878853689, rs878853682, rs745409628, rs794728044, rs886038853, rs886038952, rs863223845, rs886039106, rs886038783, rs886038919, rs886038954, rs886038978, rs746972765, rs886038870, rs886038869, rs886038975, rs886038786, rs886038955, rs886038930, rs886039092, rs886039158, rs886038894, rs886038949, rs886038967, rs886038976, rs886039047, rs886038957, rs794728241, rs886038959, rs886038790, rs886039167, rs886038838, rs886038979, rs886039120, rs886038970, rs886038940, rs886039035, rs886039196, rs886038802, rs886038956, rs886038996, rs886038877, rs886039054, rs886039038, rs886038984, rs886038972, rs886039034, rs886039036, rs886039072, rs886039066, rs886038987, rs565513365, rs886039551, rs886039492, rs140583, rs886039550, rs886037823, rs886039820, rs886040966, rs886041046, rs886044547, rs755952006, rs1057518075, rs397514037, rs1057518653, rs1057521150, rs1057521106, rs1057524810, rs1057523796, rs1057523647, rs1057521101, rs1060501984, rs104893807, rs1060502045, rs1060502046, rs1060502827, rs1555399379, rs1060501035, rs1555412070, rs1555394151, rs1060501051, rs753486471, rs1060500770, rs1060500766, rs1060501092, rs1060501055, rs1060501021, rs1060501038, rs1060500773, rs1064796256, rs1064797017, rs1064794130, rs1064796636, rs1064794789, rs1555414236, rs757106110, rs1085307921, rs1085308004, rs1131691996, rs1131691766, rs363804, rs397515764, rs1555394195, rs113603747, rs528689432, rs587782947, rs1553303213, rs1553630171, rs1555360368, rs1555393875, rs1555395256, rs1555396427, rs1555397548, rs1006530719, rs587779704, rs587779578, rs104893812, rs1553630235, rs1553630289, rs1553630426, rs1553631693, rs1554122857, rs1057524497, rs1554700672, rs1555395486, rs1555396998, rs1555360229, rs1555412069, rs1555413579, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555400373, rs1555405031, rs1555397008, rs1555405108, rs1015798796, rs1553631968, rs1555394904, rs1553303352, rs1553508338, rs1555398835, rs1555401011, rs1555395826, rs1555399481, rs1347651454, rs1553508039, rs1553507180, rs1553507867, rs1553808296, rs727503475, rs1554799402, rs1554701881, rs1554702262, rs1555393516, rs1555393856, rs1555394142, rs1555395209, rs1555395742, rs1555396638, rs1555398830, rs1555399166, rs1555399387, rs1555400378, rs1555401687, rs1555459260, rs1433428588, rs1401035675, rs1553292123, rs1553303357, rs1553303745, rs1393544920, rs1553507574, rs1553507991, rs587779433, rs587779458, rs1553508957, rs1553509869, rs1554122896, rs1554123064, rs1554787526, rs1554792869, rs1554805638, rs1554726251, rs1554698926, rs1554700603, rs869025352, rs1555360047, rs1555393539, rs1555393823, rs1555393837, rs1555393844, rs1555393871, rs1555393880, rs1555394146, rs1555394149, rs1555394196, rs1555394396, rs1555394400, rs1555394433, rs112550005, rs1555394566, rs112836174, rs1555394781, rs1555394927, rs1555395002, rs1555395206, rs794728247, rs1304643689, rs1555395461, rs1555395652, rs1555395658, rs1555395840, rs765387131, rs1555396429, rs1555396760, rs1555396835, rs1555397000, rs1555397014, rs1555397016, rs1555397148, rs1555397154, rs778710767, rs1555397557, rs1555397646, rs1555397704, rs1555398143, rs1555398272, rs1555398406, rs372404949, rs1555398680, rs1555398681, rs1555398828, rs1057523406, rs1555399143, rs1555399147, rs1555399205, rs1555399257, rs1555399361, rs1555399388, rs1555399764, rs1555399835, rs1555399839, rs1555400285, rs1555401686, rs1555401699, rs363852, rs1555404819, rs1555405039, rs1555405056, rs1555405534, rs1555407416, rs1555405092, rs730880215, rs1557179684, rs1555395980, rs1555396789, rs1555399816, rs1555393647, rs1555395645, rs1556337063, rs1553507614, rs1553509391, rs1553630438, rs1553630274, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555395663, rs1555397652, rs1555398283, rs1445085747, rs1554702463, rs363810, rs363806, rs1555395820, rs1555394189, rs1555394397, rs1555394399, rs1555394783, rs363815, rs1555395267, rs111239111, rs1555396993, rs1060501076, rs113693945, rs1555398404, rs1555398625, rs1555399162, rs1555399210, rs193922188, rs1060501017, rs1060501041, rs1555400049, rs1555400278, rs1555400279, rs1156747241, rs1555400372, rs1555400387, rs752010116, rs1555401679, rs1555404810, rs141502207, rs1553292145, rs375737772, rs1566891654, rs1566897374, rs1566905976, rs1566891655, rs1346043320, rs1566999621, rs1567002059, rs1567002115, rs1567003613, rs863223832, rs1566891808, rs1245476075, rs1566890005, rs1352478541, rs1566913670, rs1566894230, rs765692335, rs1566914030, rs1566999458, rs1569482431, rs886039176, rs1566891701, rs1566999423, rs1566999601, rs1566999610, rs1559472349, rs1566891668, rs1566891675, rs1566892872, rs1566898120, rs1566900492, rs1566903914, rs1566904526, rs1555397419, rs1566906506, rs1555398627, rs1566919637, rs869312034, rs1566900540, rs794728192, rs1566938153, rs1566892735, rs1603360542, rs1597516325, rs1597531796, rs755528878, rs1575165264, rs1597512600, rs1597516347, rs1555398144, rs1595942351, rs1595960447, rs1595965925, rs1595965945, rs1576468385, rs1595956832, rs1320208623, rs1575165272, rs1597562812, rs1575166666, rs1588477255, rs794728193, rs1688258933, rs1699392675, rs760797386, rs1699709401, rs1827902114, rs2035418540, rs2043116624, rs1555395745, rs2043594915, rs2043746138, rs2043846274, rs2044515247, rs1291288543, rs373782713, rs2042873946, rs1688274077	27442293, 23910461, 9606187

Unknown
Disease name	Disease term	dbSNP ID	References
Aortic valve insufficiency	Aortic Valve Insufficiency
Arachnodactyly	Arachnodactyly
Coronary arteriosclerosis	Coronary Arteriosclerosis
Cutis marmorata	Cutis marmorata
Descending aortic dissection	Descending aortic dissection
Development disorder	Child Development Disorders, Pervasive		28540026
Dyspnea, paroxysmal	Dyspnea, Paroxysmal
Enzymopathy	Enzymopathy
Ischemic stroke	Ischemic stroke	rs6025, rs1799963, rs1799983
Lupus erythematosus	Lupus Erythematosus, Systemic		25338677
Peripheral arterial stenosis	Peripheral arterial stenosis
Subarachnoid hemorrhage	Subarachnoid Hemorrhage
Transient ischemic attack	Transient Ischemic Attack