TAF1A (TATA-box binding protein associated factor, RNA polymerase I subunit A)

Gene

• Entrez ID: 9015
• Gene name: TATA-box binding protein associated factor, RNA polymerase I subunit A
• Gene symbol: TAF1A
• Synonyms (NCBI Gene): MGC:17061, RAFI48, SL1, TAFI48
• Chromosome: 1
• Chromosome location: 1q41
• Summary: This gene encodes a subunit of the RNA polymerase I complex, Selectivity Factor I (SLI). The encoded protein is a TATA box-binding protein-associated factor that plays a role in the assembly of the RNA polymerase I preinitiation complex. Alternate splicin

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022398	hsa-miR-124-3p	Microarray	18668037
MIRT1409185	hsa-miR-1224-3p	CLIP-seq
MIRT1409186	hsa-miR-1234	CLIP-seq
MIRT1409187	hsa-miR-150	CLIP-seq
MIRT1409188	hsa-miR-302a	CLIP-seq
MIRT1409189	hsa-miR-302b	CLIP-seq
MIRT1409190	hsa-miR-302c	CLIP-seq
MIRT1409191	hsa-miR-302d	CLIP-seq
MIRT1409192	hsa-miR-302e	CLIP-seq
MIRT1409193	hsa-miR-372	CLIP-seq
MIRT1409194	hsa-miR-373	CLIP-seq
MIRT1409195	hsa-miR-4731-5p	CLIP-seq
MIRT1409196	hsa-miR-512-3p	CLIP-seq
MIRT1409197	hsa-miR-520a-3p	CLIP-seq
MIRT1409198	hsa-miR-520b	CLIP-seq
MIRT1409199	hsa-miR-520c-3p	CLIP-seq
MIRT1409200	hsa-miR-520d-3p	CLIP-seq
MIRT1409201	hsa-miR-520e	CLIP-seq
MIRT1409202	hsa-miR-1208	CLIP-seq
MIRT1409185	hsa-miR-1224-3p	CLIP-seq
MIRT1409203	hsa-miR-1237	CLIP-seq
MIRT1409204	hsa-miR-1248	CLIP-seq
MIRT1409205	hsa-miR-1307	CLIP-seq
MIRT1409206	hsa-miR-1976	CLIP-seq
MIRT1409207	hsa-miR-3149	CLIP-seq
MIRT1409208	hsa-miR-3187-3p	CLIP-seq
MIRT1409209	hsa-miR-3545-3p	CLIP-seq
MIRT1409210	hsa-miR-3663-5p	CLIP-seq
MIRT1409211	hsa-miR-370	CLIP-seq
MIRT1409212	hsa-miR-411	CLIP-seq
MIRT1409213	hsa-miR-4252	CLIP-seq
MIRT1409214	hsa-miR-4263	CLIP-seq
MIRT1409215	hsa-miR-4279	CLIP-seq
MIRT1409216	hsa-miR-4284	CLIP-seq
MIRT1409217	hsa-miR-433	CLIP-seq
MIRT1409218	hsa-miR-4420	CLIP-seq
MIRT1409219	hsa-miR-4433	CLIP-seq
MIRT1409220	hsa-miR-4435	CLIP-seq
MIRT1409221	hsa-miR-4514	CLIP-seq
MIRT1409222	hsa-miR-4532	CLIP-seq
MIRT1409223	hsa-miR-4635	CLIP-seq
MIRT1409224	hsa-miR-4638-5p	CLIP-seq
MIRT1409225	hsa-miR-4645-5p	CLIP-seq
MIRT1409226	hsa-miR-4673	CLIP-seq
MIRT1409227	hsa-miR-4680-5p	CLIP-seq
MIRT1409228	hsa-miR-4692	CLIP-seq
MIRT1409229	hsa-miR-4701-5p	CLIP-seq
MIRT1409230	hsa-miR-4722-5p	CLIP-seq
MIRT1409231	hsa-miR-4755-3p	CLIP-seq
MIRT1409232	hsa-miR-4768-5p	CLIP-seq
MIRT1409233	hsa-miR-4772-3p	CLIP-seq
MIRT1409234	hsa-miR-4799-5p	CLIP-seq
MIRT1409235	hsa-miR-498	CLIP-seq
MIRT1409236	hsa-miR-500a	CLIP-seq
MIRT1409237	hsa-miR-548s	CLIP-seq
MIRT1409238	hsa-miR-576-5p	CLIP-seq
MIRT1409239	hsa-miR-588	CLIP-seq
MIRT1409240	hsa-miR-595	CLIP-seq
MIRT1409241	hsa-miR-605	CLIP-seq
MIRT1409242	hsa-miR-640	CLIP-seq
MIRT1409243	hsa-miR-892a	CLIP-seq
MIRT1409244	hsa-miR-924	CLIP-seq
MIRT1409245	hsa-miR-940	CLIP-seq
MIRT1409246	hsa-miR-942	CLIP-seq
MIRT1409209	hsa-miR-3545-3p	CLIP-seq
MIRT1409217	hsa-miR-433	CLIP-seq
MIRT1409227	hsa-miR-4680-5p	CLIP-seq
MIRT1409202	hsa-miR-1208	CLIP-seq
MIRT1409185	hsa-miR-1224-3p	CLIP-seq
MIRT1409186	hsa-miR-1234	CLIP-seq
MIRT1409187	hsa-miR-150	CLIP-seq
MIRT1409206	hsa-miR-1976	CLIP-seq
MIRT1409188	hsa-miR-302a	CLIP-seq
MIRT1409189	hsa-miR-302b	CLIP-seq
MIRT1409190	hsa-miR-302c	CLIP-seq
MIRT1409191	hsa-miR-302d	CLIP-seq
MIRT1409192	hsa-miR-302e	CLIP-seq
MIRT1409207	hsa-miR-3149	CLIP-seq
MIRT2122710	hsa-miR-3157-5p	CLIP-seq
MIRT1409208	hsa-miR-3187-3p	CLIP-seq
MIRT1409210	hsa-miR-3663-5p	CLIP-seq
MIRT1409211	hsa-miR-370	CLIP-seq
MIRT1409193	hsa-miR-372	CLIP-seq
MIRT1409194	hsa-miR-373	CLIP-seq
MIRT2122711	hsa-miR-3977	CLIP-seq
MIRT1409212	hsa-miR-411	CLIP-seq
MIRT1409215	hsa-miR-4279	CLIP-seq
MIRT1409218	hsa-miR-4420	CLIP-seq
MIRT1409220	hsa-miR-4435	CLIP-seq
MIRT1409229	hsa-miR-4701-5p	CLIP-seq
MIRT1409195	hsa-miR-4731-5p	CLIP-seq
MIRT1409231	hsa-miR-4755-3p	CLIP-seq
MIRT1409235	hsa-miR-498	CLIP-seq
MIRT1409196	hsa-miR-512-3p	CLIP-seq
MIRT1409197	hsa-miR-520a-3p	CLIP-seq
MIRT1409198	hsa-miR-520b	CLIP-seq
MIRT1409199	hsa-miR-520c-3p	CLIP-seq
MIRT1409200	hsa-miR-520d-3p	CLIP-seq
MIRT1409201	hsa-miR-520e	CLIP-seq
MIRT1409237	hsa-miR-548s	CLIP-seq
MIRT1409239	hsa-miR-588	CLIP-seq
MIRT1409243	hsa-miR-892a	CLIP-seq
MIRT1409206	hsa-miR-1976	CLIP-seq
MIRT2122710	hsa-miR-3157-5p	CLIP-seq
MIRT1409211	hsa-miR-370	CLIP-seq
MIRT2122711	hsa-miR-3977	CLIP-seq
MIRT1409215	hsa-miR-4279	CLIP-seq
MIRT1409222	hsa-miR-4532	CLIP-seq
MIRT2466206	hsa-miR-4740-3p	CLIP-seq
MIRT1409235	hsa-miR-498	CLIP-seq
MIRT1409206	hsa-miR-1976	CLIP-seq
MIRT2638166	hsa-miR-3126-3p	CLIP-seq
MIRT2122710	hsa-miR-3157-5p	CLIP-seq
MIRT1409211	hsa-miR-370	CLIP-seq
MIRT2122711	hsa-miR-3977	CLIP-seq
MIRT1409215	hsa-miR-4279	CLIP-seq
MIRT1409222	hsa-miR-4532	CLIP-seq
MIRT2466206	hsa-miR-4740-3p	CLIP-seq
MIRT1409235	hsa-miR-498	CLIP-seq
MIRT1409206	hsa-miR-1976	CLIP-seq
MIRT2122710	hsa-miR-3157-5p	CLIP-seq
MIRT1409211	hsa-miR-370	CLIP-seq
MIRT2122711	hsa-miR-3977	CLIP-seq
MIRT1409215	hsa-miR-4279	CLIP-seq
MIRT1409222	hsa-miR-4532	CLIP-seq
MIRT2466206	hsa-miR-4740-3p	CLIP-seq
MIRT1409235	hsa-miR-498	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NPM1	Activation	17069796

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000120	Component	RNA polymerase I transcription regulator complex	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	17318177, 20075868, 25416956, 26496610
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006360	Process	Transcription by RNA polymerase I	TAS	7801123
GO:0006361	Process	Transcription initiation from RNA polymerase I promoter	TAS
GO:0006362	Process	Transcription elongation from RNA polymerase I promoter	TAS
GO:0006363	Process	Termination of RNA polymerase I transcription	TAS
GO:0006366	Process	Transcription by RNA polymerase II	TAS	7801123
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0045815	Process	Positive regulation of gene expression, epigenetic	TAS

Other IDs

• MIM: 604903
• HGNC: 11532
• e!Ensembl: ENSG00000143498

Protein

• UniProt ID: Q15573
• Protein name: TATA box-binding protein-associated factor RNA polymerase I subunit A (RNA polymerase I-specific TBP-associated factor 48 kDa) (TAFI48) (TATA box-binding protein-associated factor 1A) (TBP-associated factor 1A) (Transcription factor SL1) (Transcription in
• Protein function: Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (pre-initiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rat
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14929	TAF1_subA	63 → 423	TAF RNA Polymerase I subunit A	Family

• Sequence:

  MSDFSEELKGPVTDDEEVETSVLSGAGMHFPWLQTYVETVAIGGKRRKDFAQTTSACLSF
  IQEALLKHQWQQAAEYMYSYFQTLEDSDSYKRQAAPEIIWKLGSEILFYHPKSNMESFNT
  FANRMKNIGVMNYLKISLQHALYLLHHGMLKDAKRNLSEAETWRHGENTSSREILINLIQ
  AYKGLLQYYTWSEKKMELSKLDKDDYAYNAVAQDVFNHSWKTSANISALIKIPGVWDPFV
  KSYVEMLEFYGDRDGAQEVLTNYAYDEKFPSNPNAHIYLYNFLKRQKAPRSKLISVLKIL
  YQIVPSHKLMLEFHTLLRKSEKEEHRKLGLEVLFGVLDFAGCTKNITAWKYLAKYLKNIL
  MGNHLAWVQEEWNSRKNWWPGFHFSYFWAKSDWKEDTALACEKAFVAGLLLGKGCRYFRY
  ILKQDHQILGKKIKRMKRSVKKYSIVNPRL

• Sequence length: 450

Pathways

Reactome:

B-WICH complex positively regulates rRNA expression
RNA Polymerase I Transcription Initiation
RNA Polymerase I Promoter Escape
RNA Polymerase I Transcription Termination

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	28472305
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

Associations from Text Mining
Disease Name	Relationship Type	References
Breast Neoplasms	Associate	29510897
Cardiomyopathies	Associate	39209150
Cardiomyopathy Restrictive	Associate	39209150
Colonic Neoplasms	Associate	32522293
Drug Related Side Effects and Adverse Reactions	Associate	20041693
Dystonic Disorders	Associate	39209150
Hypersensitivity Immediate	Associate	39369230
Infections	Associate	33669411
Neoplasm Metastasis	Associate	29510897
Neoplasms	Associate	29510897
Neurodegenerative Diseases	Associate	28777933
Primary Immunodeficiency Diseases	Associate	39209150
Tertiary Lymphoid Structures	Stimulate	29510897
Uterine Cervical Neoplasms	Associate	33311601