CAP2 (cyclase associated actin cytoskeleton regulatory protein 2)

Gene

• Entrez ID: 10486
• Gene name: Cyclase associated actin cytoskeleton regulatory protein 2
• Gene symbol: CAP2
• Synonyms (NCBI Gene): CMD2I
• Disease Acronyms (UniProt): CMD2I
• Chromosome: 6
• Chromosome location: 6p22.3
• Summary: This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT621365	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT621365	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT621365	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT621365	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT861801	hsa-miR-144	CLIP-seq
MIRT861802	hsa-miR-15a	CLIP-seq
MIRT861803	hsa-miR-15b	CLIP-seq
MIRT861804	hsa-miR-16	CLIP-seq
MIRT861805	hsa-miR-195	CLIP-seq
MIRT861806	hsa-miR-28-5p	CLIP-seq
MIRT861807	hsa-miR-3139	CLIP-seq
MIRT861808	hsa-miR-365	CLIP-seq
MIRT861809	hsa-miR-3660	CLIP-seq
MIRT861810	hsa-miR-424	CLIP-seq
MIRT861811	hsa-miR-4464	CLIP-seq
MIRT861812	hsa-miR-4526	CLIP-seq
MIRT861813	hsa-miR-4645-3p	CLIP-seq
MIRT861814	hsa-miR-4728-3p	CLIP-seq
MIRT861815	hsa-miR-4748	CLIP-seq
MIRT861816	hsa-miR-497	CLIP-seq
MIRT861817	hsa-miR-532-5p	CLIP-seq
MIRT861818	hsa-miR-628-5p	CLIP-seq
MIRT861819	hsa-miR-708	CLIP-seq
MIRT1955687	hsa-miR-1246	CLIP-seq
MIRT1955688	hsa-miR-1271	CLIP-seq
MIRT1955689	hsa-miR-182	CLIP-seq
MIRT1955690	hsa-miR-3182	CLIP-seq
MIRT1955691	hsa-miR-3184	CLIP-seq
MIRT1955692	hsa-miR-3201	CLIP-seq
MIRT1955693	hsa-miR-409-3p	CLIP-seq
MIRT1955694	hsa-miR-423-5p	CLIP-seq
MIRT1955695	hsa-miR-4307	CLIP-seq
MIRT1955696	hsa-miR-4642	CLIP-seq
MIRT1955697	hsa-miR-4652-3p	CLIP-seq
MIRT1955698	hsa-miR-4659a-3p	CLIP-seq
MIRT1955699	hsa-miR-4659b-3p	CLIP-seq
MIRT1955700	hsa-miR-4791	CLIP-seq
MIRT1955701	hsa-miR-607	CLIP-seq
MIRT1955702	hsa-miR-96	CLIP-seq
MIRT2193306	hsa-miR-1207-5p	CLIP-seq
MIRT1955687	hsa-miR-1246	CLIP-seq
MIRT2193307	hsa-miR-125a-3p	CLIP-seq
MIRT2193308	hsa-miR-1263	CLIP-seq
MIRT2193309	hsa-miR-129-5p	CLIP-seq
MIRT2193310	hsa-miR-1323	CLIP-seq
MIRT2193311	hsa-miR-3128	CLIP-seq
MIRT2193312	hsa-miR-3140-3p	CLIP-seq
MIRT1955691	hsa-miR-3184	CLIP-seq
MIRT1955692	hsa-miR-3201	CLIP-seq
MIRT2193313	hsa-miR-3665	CLIP-seq
MIRT2193314	hsa-miR-3934	CLIP-seq
MIRT1955694	hsa-miR-423-5p	CLIP-seq
MIRT2193315	hsa-miR-4450	CLIP-seq
MIRT2193316	hsa-miR-4525	CLIP-seq
MIRT2193317	hsa-miR-4710	CLIP-seq
MIRT2193318	hsa-miR-4716-3p	CLIP-seq
MIRT2193319	hsa-miR-4720-5p	CLIP-seq
MIRT2193320	hsa-miR-4736	CLIP-seq
MIRT2193321	hsa-miR-4763-3p	CLIP-seq
MIRT1955700	hsa-miR-4791	CLIP-seq
MIRT2193322	hsa-miR-4799-3p	CLIP-seq
MIRT2193323	hsa-miR-548o	CLIP-seq
MIRT2193324	hsa-miR-548p	CLIP-seq
MIRT2193325	hsa-miR-764	CLIP-seq
MIRT2193308	hsa-miR-1263	CLIP-seq
MIRT2193310	hsa-miR-1323	CLIP-seq
MIRT2193323	hsa-miR-548o	CLIP-seq
MIRT2193324	hsa-miR-548p	CLIP-seq
MIRT2496391	hsa-miR-103b	CLIP-seq
MIRT2496392	hsa-miR-1283	CLIP-seq
MIRT861801	hsa-miR-144	CLIP-seq
MIRT861802	hsa-miR-15a	CLIP-seq
MIRT861803	hsa-miR-15b	CLIP-seq
MIRT861804	hsa-miR-16	CLIP-seq
MIRT861805	hsa-miR-195	CLIP-seq
MIRT861806	hsa-miR-28-5p	CLIP-seq
MIRT2496393	hsa-miR-3127-5p	CLIP-seq
MIRT861807	hsa-miR-3139	CLIP-seq
MIRT2496394	hsa-miR-3177-5p	CLIP-seq
MIRT2496395	hsa-miR-3185	CLIP-seq
MIRT2496396	hsa-miR-3918	CLIP-seq
MIRT861810	hsa-miR-424	CLIP-seq
MIRT2496397	hsa-miR-4536	CLIP-seq
MIRT861813	hsa-miR-4645-3p	CLIP-seq
MIRT2496398	hsa-miR-487a	CLIP-seq
MIRT861816	hsa-miR-497	CLIP-seq
MIRT2496399	hsa-miR-548m	CLIP-seq
MIRT2496400	hsa-miR-577	CLIP-seq
MIRT861819	hsa-miR-708	CLIP-seq
MIRT2496391	hsa-miR-103b	CLIP-seq
MIRT2496392	hsa-miR-1283	CLIP-seq
MIRT861801	hsa-miR-144	CLIP-seq
MIRT861802	hsa-miR-15a	CLIP-seq
MIRT861803	hsa-miR-15b	CLIP-seq
MIRT861804	hsa-miR-16	CLIP-seq
MIRT861805	hsa-miR-195	CLIP-seq
MIRT861806	hsa-miR-28-5p	CLIP-seq
MIRT2496393	hsa-miR-3127-5p	CLIP-seq
MIRT861807	hsa-miR-3139	CLIP-seq
MIRT2496394	hsa-miR-3177-5p	CLIP-seq
MIRT2496395	hsa-miR-3185	CLIP-seq
MIRT2496396	hsa-miR-3918	CLIP-seq
MIRT861810	hsa-miR-424	CLIP-seq
MIRT2496397	hsa-miR-4536	CLIP-seq
MIRT861813	hsa-miR-4645-3p	CLIP-seq
MIRT2496398	hsa-miR-487a	CLIP-seq
MIRT861816	hsa-miR-497	CLIP-seq
MIRT2496399	hsa-miR-548m	CLIP-seq
MIRT2496400	hsa-miR-577	CLIP-seq
MIRT861819	hsa-miR-708	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IBA	21873635
GO:0003779	Function	Actin binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	25416956, 25910212, 28514442, 32296183
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005886	Component	Plasma membrane	IEA
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007163	Process	Establishment or maintenance of cell polarity	TAS	7962207
GO:0007165	Process	Signal transduction	TAS	7962207
GO:0007190	Process	Activation of adenylate cyclase activity	TAS	7962207
GO:0008179	Function	Adenylate cyclase binding	IBA	21873635
GO:0014069	Component	Postsynaptic density	IEA
GO:0019933	Process	CAMP-mediated signaling	IBA	21873635
GO:0042802	Function	Identical protein binding	IPI	25416956, 32296183
GO:0045761	Process	Regulation of adenylate cyclase activity	IBA	21873635

Other IDs

• MIM: 618385
• HGNC: 20039
• e!Ensembl: ENSG00000112186

Protein

• UniProt ID: P40123
• Protein name: Adenylyl cyclase-associated protein 2 (CAP 2)
• Protein function: Involved in the regulation of actin polymerization.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01213	CAP_N	5 → 64	Adenylate cyclase associated (CAP) N terminal	Family
  PF08603	CAP_C	321 → 475	Adenylate cyclase associated (CAP) C terminal	Family

• Sequence:

  MANMQGLVERLERAVSRLESLSAESHRPPGNCGEVNGVIAGVAPSVEAFDKLMDSMVAEF
  LKNSRILAGDVETHAEMVHSAFQAQRAFLLMASQYQQPHENDVAALLKPISEKIQEIQTF
  RERNRGSNMFNHLSAVSESIPALGWIAVSPKPGPYVKEMNDAATFYTNRVLKDYKHSDLR
  HVDWVKSYLNIWSELQAYIKEHHTTGLTWSKTGPVASTVSAFSVLSSGPGLPPPPPPLPP
  PGPPPLFENEGKKEESSPSRSALFAQLNQGEAITKGLRHVTDDQKTYKNPSLRAQGGQTQ
  SPTKSHTPSPTSPKSYPSQKHAPVLELEGKKWRVEYQEDRNDLVISETELKQVAYIFKCE
  KSTIQIKGKVNSIIIDNCKKLGLVFDNVVGIVEVINSQDIQIQVMGRVPTISINKTEGCH
  IYLSEDALDCEIVSAKSSEMNILIPQDGDYREFPIPEQFKTAWDGSKLITEPAEIMA

• Sequence length: 477

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cardiomyopathy	Cardiomyopathy, Dilated, Familial dilated cardiomyopathy	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs387906397, rs137854607, rs28935197, rs199473684, rs121964858, rs74315379, rs74315380, rs104894724, rs104894727, rs104894728, rs104894729, rs104894730, rs121917760, rs267607125, rs104894503, rs267607155, rs267607156, rs121918597, rs121918600, rs28933979, rs121918070, rs76992529, rs111033559, rs111033560, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs3218714, rs121913637, rs121913638, rs121913641, rs121913642, rs121913651, rs267606911, rs267606908, rs730880850, rs61046466, rs57520892, rs28933091, rs28933092, rs28933093, rs121913008, rs121913003, rs121912996, rs121912997, rs193922680, rs387906875, rs199474703, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922683, rs193922668, rs386134243, rs267607578, rs36211723, rs193922390, rs193922672, rs193922697, rs387907267, rs45546039, rs387907218, rs397515870, rs397515893, rs397515894, rs397515903, rs397515905, rs375882485, rs397515907, rs397515912, rs397515916, rs397515925, rs397515926, rs397515934, rs397515937, rs397515943, rs397515944, rs397515947, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515973, rs397515974, rs397515977, rs376395543, rs397515979, rs397515982, rs397515990, rs397515991, rs397515992, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516019, rs397516023, rs397516029, rs397516031, rs397516037, rs397516040, rs397516042, rs397516044, rs397516049, rs397516057, rs397516059, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs397516082, rs397516083, rs397516088, rs397516089, rs397516103, rs397516123, rs397516127, rs371898076, rs397516132, rs397516142, rs3218716, rs397516154, rs397516161, rs397516165, rs397516170, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516248, rs397516252, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516269, rs397516347, rs397516349, rs397516352, rs397516353, rs397516355, rs397516356, rs397516357, rs397516364, rs397516370, rs397516371, rs397516373, rs397516386, rs397516406, rs397516454, rs397516456, rs397516461, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs62636495, rs397516784, rs397516881, rs397516913, rs397516915, rs397516927, rs397516940, rs397516943, rs397516945, rs397516955, rs397516956, rs397516973, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517012, rs397517021, rs397517065, rs397517547, rs397517576, rs397517580, rs397517584, rs397517586, rs397517587, rs397517589, rs397517601, rs397517620, rs397517624, rs397517626, rs397517628, rs72646831, rs397517633, rs397517643, rs72646846, rs397517664, rs397517679, rs397517689, rs397517695, rs397517696, rs397517698, rs397517721, rs397517735, rs397517741, rs397517749, rs397517750, rs397517758, rs397517776, rs397517787, rs397517830, rs397517887, rs397517888, rs397517889, rs58013325, rs397517895, rs56984562, rs267607646, rs58917027, rs267607594, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397514742, rs886041395, rs397515482, rs267607490, rs58999456, rs267607555, rs61672878, rs267607618, rs267607577, rs57730570, rs267607582, rs267607581, rs61444459, rs59270054, rs61661343, rs267607570, rs59026483, rs267607571, rs59332535, rs199473161, rs398123262, rs869320740, rs606231324, rs587782927, rs201754030, rs58389804, rs587782958, rs587782961, rs587782962, rs587782986, rs138049878, rs376897125, rs368765949, rs111569862, rs727504247, rs727503537, rs727504535, rs727504550, rs727504679, rs727503546, rs730880365, rs727504646, rs727505014, rs727505288, rs727503557, rs727503559, rs730880343, rs727503615, rs727504825, rs727503565, rs727504655, rs727505352, rs727504466, rs727504531, rs727503567, rs371678190, rs727503586, rs727505319, rs727503547, rs727505076, rs727505224, rs727503552, rs727504856, rs727504782, rs727504660, rs557312035, rs727505284, rs727504851, rs727504589, rs727504499, rs727504843, rs727504452, rs727503697, rs150974575, rs727504498, rs727503598, rs727503602, rs727503607, rs727504801, rs727504738, rs727505115, rs727505283, rs727505109, rs727504271, rs727504321, rs727504289, rs727503172, rs727503180, rs727503182, rs727504265, rs727504334, rs727503192, rs397515932, rs727504287, rs200411226, rs727503204, rs727504269, rs367947846, rs730880335, rs727502897, rs727503166, rs111683277, rs727503195, rs727503203, rs727503212, rs727503738, rs727504381, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs727503253, rs202141173, rs727504310, rs727503258, rs727503260, rs727504320, rs727504240, rs727503263, rs727503269, rs727503278, rs727504432, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504379, rs727504389, rs727504275, rs727504557, rs727502994, rs727504184, rs730880336, rs730880362, rs730880199, rs730880246, rs72648265, rs730880243, rs730880242, rs730880241, rs574660186, rs730880245, rs730880082, rs730880092, rs730880093, rs730880055, rs397515939, rs730881119, rs397516020, rs730880675, rs730880719, rs730880672, rs730880671, rs730880718, rs730880666, rs730880717, rs730880655, rs730880715, rs730880654, rs730880714, rs730880651, rs730880648, rs730880713, rs730880546, rs730880695, rs730880533, rs730880531, rs730880639, rs730880689, rs730880686, rs730880629, rs368121566, rs375607980, rs730880704, rs730880698, rs730880750, rs730880748, rs730880875, rs730880845, rs1565623093, rs786204339, rs786204336, rs786204392, rs786204388, rs786204950, rs786204951, rs794727381, rs760576804, rs112188483, rs794728597, rs794728606, rs794728593, rs59564495, rs190140598, rs794728826, rs794728803, rs794728106, rs149701627, rs1554108152, rs770873593, rs794728124, rs141026028, rs794728094, rs794729098, rs794729116, rs764817683, rs751288871, rs201405287, rs794729137, rs794729133, rs766209297, rs767987619, rs769220833, rs794729120, rs112240298, rs748382770, rs794729365, rs794729301, rs757451467, rs794729359, rs794729354, rs794729353, rs794729285, rs794729284, rs794729338, rs794729332, rs368452607, rs794729278, rs794729325, rs794729324, rs754866489, rs794729265, rs751502842, rs794729320, rs794729380, rs748313513, rs797046064, rs863225113, rs863225106, rs761507504, rs864622224, rs1057515421, rs751039219, rs869025555, rs869025546, rs869025554, rs869025559, rs869025545, rs869025558, rs869025557, rs200797552, rs869025550, rs869025549, rs869025544, rs869025552, rs869025548, rs869025556, rs770029258, rs869025523, rs869025398, rs869025399, rs869025395, rs869025365, rs869025469, rs869025483, rs749838192, rs869312028, rs869312037, rs869312038, rs869312039, rs869312040, rs869312041, rs869312042, rs869312044, rs869312046, rs373040154, rs869312047, rs869312048, rs869312049, rs869312050, rs869312051, rs869312052, rs869312054, rs869312055, rs777602537, rs869312056, rs869312057, rs869312058, rs869312059, rs869312060, rs770038577, rs869312061, rs869312062, rs869312063, rs869312064, rs869312065, rs869312066, rs869312067, rs869312068, rs869312069, rs771562210, rs869312070, rs869312071, rs759231562, rs869312072, rs869312073, rs764243269, rs768345594, rs869312074, rs869312075, rs869312076, rs869312077, rs869312078, rs869312079, rs869312080, rs772121356, rs869312081, rs869312082, rs72648250, rs869312083, rs869312084, rs869312085, rs869312086, rs869312087, rs869312100, rs779129892, rs756367933, rs869312102, rs869312103, rs869312104, rs869312105, rs869312106, rs770767998, rs869312107, rs775186117, rs869312108, rs869312109, rs869312110, rs869312111, rs755261062, rs869312112, rs763824247, rs869312113, rs869312114, rs869312115, rs869312116, rs774604740, rs869312117, rs779996703, rs869312118, rs869312119, rs869312120, rs869312121, rs869312122, rs869312045, rs753948675, rs878854371, rs794728589, rs876657650, rs727503512, rs876658027, rs876657672, rs876657671, rs868494032, rs876657670, rs780512337, rs876657669, rs876657668, rs876657666, rs876657665, rs876657664, rs876657663, rs148894066, rs876657634, rs869248137, rs876657705, rs876657704, rs727503213, rs869025496, rs876657662, rs876657884, rs36211715, rs878855234, rs879255521, rs879255639, rs886038928, rs751746401, rs886039030, rs869038795, rs886039343, rs2069544, rs1114167341, rs1114167340, rs886041322, rs886042331, rs886043718, rs747662439, rs886043924, rs773840992, rs886044536, rs1057517903, rs754354190, rs779650200, rs902082118, rs1057518920, rs1057519457, rs1057523045, rs370072439, rs1064792916, rs1060500495, rs1060500575, rs926741242, rs774763657, rs746877365, rs1060500610, rs1060501484, rs1060501479, rs1064792928, rs1060501443, rs1060499604, rs1064793814, rs1064796347, rs977277400, rs1064793429, rs745811346, rs1064794350, rs1555142963, rs1064793983, rs769665204, rs751261054, rs769139957, rs1131691873, rs1131691655, rs1131691673, rs1464253797, rs1408345511, rs1553603152, rs1554398705, rs1322596650, rs1553539995, rs1553611989, rs749961489, rs1444727212, rs1243301263, rs971618751, rs1553662326, rs1389777522, rs764985774, rs1554108287, rs1554105911, rs1249913357, rs1554108012, rs111806457, rs1402879259, rs748416758, rs794727046, rs1425855043, rs869178171, rs1432810664, rs749465164, rs878898365, rs1419374180, rs770878165, rs1553503113, rs1553691320, rs1553577362, rs1553603456, rs1417036453, rs1553741321, rs1553479603, rs1553607425, rs974671846, rs1420159591, rs745688425, rs1554875409, rs1555144459, rs1555338080, rs1555338574, rs1555148035, rs200889953, rs1401116572, rs1285329277, rs974510652, rs1263987728, rs1555122928, rs992189342, rs1555142971, rs1553261855, rs1553265647, rs1553488049, rs1553644307, rs1553663867, rs1553940122, rs28763965, rs758891557, rs762110595, rs1555436118, rs1555435531, rs565910322, rs376766195, rs1562168768, rs763443331, rs1562169661, rs1370579526, rs1561703922, rs1564773559, rs1559003939, rs1559598775, rs1559415567, rs1559877046, rs776970935, rs553526525, rs1561698362, rs1561694696, rs1561702640, rs730880751, rs1060505018, rs766330686, rs1565631430, rs1565050320, rs876657767, rs1565053085, rs1565053147, rs1557778277, rs1557776329, rs886039136, rs771262904, rs727504314, rs1563000044, rs541612157, rs766265889, rs1558988204, rs1559051231, rs1559262463, rs1559448864, rs1559469421, rs1559556267, rs1559746821, rs1559873786, rs1561323791, rs1561445221, rs1561686893, rs1561698714, rs1561702549, rs1565623439, rs1565623713, rs1565626367, rs1565627110, rs1565627145, rs397515889, rs1565628520, rs774316050, rs1592798444, rs1565590309, rs1566967399, rs1569552936, rs1559712733, rs1561690319, rs1561701721, rs869125101, rs1595843553, rs1576018303, rs746115846, rs777315336, rs1431206462, rs1572358674, rs1477669354, rs1575584918, rs1575614351, rs72648222, rs1575799625, rs1576014673, rs1576147786, rs747469275, rs1581805658, rs1227662860, rs1585169831, rs1592729525, rs762753884, rs1596155145, rs1572358821, rs991187915, rs1575649368, rs1060500562, rs1450218521, rs775256998, rs1572332762, rs1571627006, rs1575253896, rs1575616801, rs1575775337, rs1575948935, rs1574083547, rs1574087037, rs1589632398, rs1585171818, rs1603365762, rs768079285, rs1575663327, rs1575796530, rs1574659116, rs267607001, rs1567093598, rs1572359848, rs1060500505, rs1575512482, rs1575872984, rs1161735211, rs1576141328, rs906494713, rs1576685753, rs1266489077, rs1581813564, rs778808038, rs397516363, rs1596386673, rs1575610911, rs727503266, rs1603377936, rs777702465, rs1708504899, rs2054381012, rs1575285509, rs1695435412, rs1699247877, rs879139686, rs2060187635, rs761380979, rs1464886350, rs1956192035, rs752522753, rs1205836993, rs2095894178	30518548
Dilated cardiomyopathy	Familial isolated dilated cardiomyopathy	rs267607003, rs267607001, rs267607002, rs267607004, rs119463990, rs587777748, rs119463991, rs119463993, rs119464997, rs267606814, rs121908334, rs121909304, rs1369919728, rs121909295, rs121909297, rs9809219, rs137852767, rs137852768, rs137854618, rs137854607, rs128627255, rs104894797, rs121964855, rs121964858, rs74315379, rs74315380, rs121964860, rs267607130, rs267607129, rs104893823, rs267607125, rs104894503, rs2147483647, rs267607155, rs267607158, rs111033559, rs111033560, rs121913627, rs121913637, rs121913642, rs121913643, rs36211715, rs730880850, rs267606906, rs58932704, rs28928900, rs28933091, rs28933092, rs56771886, rs61672878, rs28933093, rs56699480, rs56984562, rs398122853, rs387906780, rs387906875, rs1589630173, rs387907188, rs199476316, rs199476321, rs199476311, rs387907208, rs387907209, rs387907227, rs387907228, rs193922683, rs267607578, rs45546039, rs397514507, rs730881003, rs397516089, rs397516153, rs397516155, rs397516160, rs397516165, rs145213771, rs397516254, rs397516258, rs397516260, rs397516266, rs397516355, rs397516373, rs397516455, rs397516457, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs397516784, rs397517626, rs72646846, rs397517689, rs397517735, rs397517776, rs397517889, rs57508089, rs61726475, rs61195471, rs60682848, rs56816490, rs202115331, rs61295588, rs267607486, rs267607617, rs267607592, rs267607581, rs61444459, rs57077886, rs61661343, rs267607570, rs267607589, rs59026483, rs267607571, rs57045855, rs80356807, rs58327533, rs59332535, rs267607591, rs59684335, rs199473161, rs398123557, rs398123828, rs398123839, rs398123923, rs398123981, rs397516828, rs869320740, rs869320741, rs606231334, rs606231324, rs587782077, rs587777586, rs373286166, rs727504255, rs727504246, rs727503546, rs727503559, rs727502886, rs727504531, rs371678190, rs727503261, rs397516171, rs727503253, rs2754158, rs574660186, rs730881116, rs730880759, rs786205144, rs794726993, rs794728593, rs794728594, rs794728613, rs397514450, rs770873593, rs794728072, rs794729305, rs794729367, rs794729365, rs769488730, rs794729300, rs794729356, rs794729384, rs794729343, rs794729382, rs794729286, rs794729285, rs794729284, rs794729339, rs781540455, rs794729281, rs794729332, rs794729331, rs794729280, rs794729278, rs768431507, rs794729324, rs794729323, rs754866489, rs374140736, rs794729319, rs794729311, rs771511344, rs797045088, rs781764920, rs863224999, rs1057515421, rs869025545, rs869025549, rs869312028, rs869312047, rs869312055, rs770038577, rs869312065, rs764243269, rs768345594, rs869312081, rs72648250, rs869312085, rs756367933, rs869312104, rs770767998, rs775186117, rs869312112, rs774604740, rs779996703, rs869312121, rs727503512, rs876657666, rs869248137, rs876658637, rs774395395, rs878854281, rs878854433, rs878854432, rs767450912, rs878854335, rs878854332, rs878854322, rs878854315, rs878854632, rs878854627, rs752360961, rs878854782, rs730882262, rs886037909, rs886037905, rs886038916, rs886038831, rs886039027, rs754664923, rs869038795, rs202094100, rs1114167323, rs1114167324, rs1114167335, rs1114167333, rs1553939749, rs1114167332, rs1114167331, rs1114167341, rs886043924, rs886044536, rs1057516966, rs750176716, rs1057518195, rs1057518962, rs1057518834, rs1057519573, rs1057522256, rs780415493, rs545954490, rs1060500544, rs1060500514, rs1553614378, rs1060500593, rs1060500399, rs1060500572, rs1060500575, rs1060500405, rs1060500479, rs751319893, rs1553643260, rs1060500420, rs1060500442, rs1064792914, rs1060500489, rs1064792915, rs940845256, rs1554001843, rs771328239, rs1554877224, rs796734066, rs1064793419, rs1064796323, rs776065839, rs1064795407, rs1064793911, rs1064793845, rs1064796112, rs752948913, rs1064793567, rs1085307600, rs1135402750, rs1553265739, rs1553882262, rs1553524807, rs1553603152, rs1553636324, rs1553754743, rs1553482872, rs1553501572, rs1322596650, rs1553504889, rs752697861, rs1219954334, rs1553628052, rs1553636843, rs1553562793, rs1553692107, rs1476017129, rs1466647934, rs1553649171, rs1553661994, rs1553682760, rs1553693444, rs778207102, rs1554000360, rs1553999072, rs1553997617, rs1554399014, rs1555179320, rs398123909, rs775827529, rs1554002451, rs1213930919, rs794728598, rs1553539391, rs1419374180, rs1276849351, rs1553490574, rs1477101279, rs1554875409, rs1250461669, rs1553265180, rs58362413, rs1553565316, rs1553659902, rs1553703310, rs1554898987, rs971618751, rs747286444, rs886042604, rs1554275988, rs1553524697, rs1553692435, rs775143272, rs1553974835, rs1555337916, rs1554761402, rs1554761462, rs1553265736, rs747236787, rs1559598775, rs1343120755, rs553526525, rs1483931960, rs2092847994, rs1554094927, rs1560994766, rs1562498114, rs865921466, rs958678700, rs771262904, rs760915007, rs1595084583, rs1559321340, rs1559449398, rs1564301594, rs1203741361, rs766265889, rs1165819867, rs1575283255, rs570046043, rs1218695159, rs1589632876, rs1553261891, rs72648224, rs747469275, rs1588222602, rs1589608098, rs1591950473, rs1575540533, rs1396851699, rs1592166720, rs769912484, rs1576251664, rs1588112379, rs1603222556, rs2044646731, rs267607622, rs1566533919, rs1572370360, rs769097909, rs1578126437, rs1574982376, rs1574066113, rs1566531303, rs1200988060, rs1579410180, rs1572112489, rs772061676, rs769664554, rs1703664543, rs1559301344, rs886055237, rs1708864326, rs1330960948, rs2051361827, rs376799532, rs2060187635, rs1396898734, rs767865405, rs377417974, rs1847236575, rs1415997308, rs1735710012, rs1941815245, rs2052563186
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Lipodystrophy	Lipodystrophy	rs553668, rs766817317
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Palmoplantar keratoderma	Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561

Unknown
Disease term	Disease name	Evidence	References	Source
Dilated Cardiomyopathy	familial isolated dilated cardiomyopathy			GenCC
Neuroblastoma	Neuroblastoma	Loss of SNAI2 function reduces self-renewal, 3D invasion as well as metastatic spread in vivo, while strongly sensitizing neuroblastoma cells to RA-induced growth inhibition.		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Breast Neoplasms	Stimulate	30047046
Carcinoma Hepatocellular	Associate	26797961, 34294609
Carcinoma Hepatocellular	Stimulate	30047046
Carcinoma Neuroendocrine	Associate	39794740
Diabetes Mellitus Type 1	Associate	33827531
Lown Ganong Levine Syndrome	Associate	35319278
Lymphatic Metastasis	Stimulate	37707957
Lymphoma Non Hodgkin	Associate	26797961
Melanoma	Associate	30047046
Mental Disorders	Associate	35163460
Neoplasm Metastasis	Associate	30047046, 37707957
Neoplasms	Associate	30047046, 37707957
Night blindness congenital stationary	Associate	35163460
Pancreatic Neoplasms	Associate	31706267
Parkinson Disease	Inhibit	35163460
Schizophrenia	Associate	35163460
Stomach Neoplasms	Associate	30047046
Stomach Neoplasms	Stimulate	37707957
Tertiary Lymphoid Structures	Associate	30047046