CBR1 (carbonyl reductase 1)

Gene

• Entrez ID: 873
• Gene name: Carbonyl reductase 1
• Gene symbol: CBR1
• Synonyms (NCBI Gene): CBR, PG-9-KR, SDR21C1, hCBR1
• Chromosome: 21
• Chromosome location: 21q22.12
• Summary: The protein encoded by this gene belongs to the short-chain dehydrogenases/reductases (SDR) family, which function as NADPH-dependent oxidoreductases having wide specificity for carbonyl compounds, such as quinones, prostaglandins, and various xenobiotics

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049536	hsa-miR-92a-3p	CLASH	23622248
MIRT045152	hsa-miR-186-5p	CLASH	23622248
MIRT042005	hsa-miR-484	CLASH	23622248
MIRT038897	hsa-miR-93-3p	CLASH	23622248
MIRT526062	hsa-miR-323a-3p	PAR-CLIP	22012620
MIRT526061	hsa-miR-5694	PAR-CLIP	22012620
MIRT526060	hsa-miR-3174	PAR-CLIP	22012620
MIRT526059	hsa-miR-1250-3p	PAR-CLIP	22012620
MIRT526058	hsa-miR-153-5p	PAR-CLIP	22012620
MIRT526057	hsa-miR-1909-5p	PAR-CLIP	22012620
MIRT526056	hsa-miR-3606-5p	PAR-CLIP	22012620
MIRT526055	hsa-miR-921	PAR-CLIP	22012620
MIRT526054	hsa-miR-190a-3p	PAR-CLIP	22012620
MIRT526053	hsa-miR-3161	PAR-CLIP	22012620
MIRT526052	hsa-miR-599	PAR-CLIP	22012620
MIRT526062	hsa-miR-323a-3p	PAR-CLIP	22012620
MIRT526061	hsa-miR-5694	PAR-CLIP	22012620
MIRT526060	hsa-miR-3174	PAR-CLIP	22012620
MIRT526059	hsa-miR-1250-3p	PAR-CLIP	22012620
MIRT526058	hsa-miR-153-5p	PAR-CLIP	22012620
MIRT526057	hsa-miR-1909-5p	PAR-CLIP	22012620
MIRT526056	hsa-miR-3606-5p	PAR-CLIP	22012620
MIRT526055	hsa-miR-921	PAR-CLIP	22012620
MIRT526054	hsa-miR-190a-3p	PAR-CLIP	22012620
MIRT526053	hsa-miR-3161	PAR-CLIP	22012620
MIRT526052	hsa-miR-599	PAR-CLIP	22012620
MIRT865731	hsa-miR-1178	CLIP-seq
MIRT865732	hsa-miR-1244	CLIP-seq
MIRT865733	hsa-miR-1277	CLIP-seq
MIRT865734	hsa-miR-323-3p	CLIP-seq
MIRT865735	hsa-miR-4275	CLIP-seq
MIRT865731	hsa-miR-1178	CLIP-seq
MIRT865732	hsa-miR-1244	CLIP-seq
MIRT865733	hsa-miR-1277	CLIP-seq
MIRT865734	hsa-miR-323-3p	CLIP-seq
MIRT1956746	hsa-miR-3660	CLIP-seq
MIRT1956747	hsa-miR-4257	CLIP-seq
MIRT865735	hsa-miR-4275	CLIP-seq
MIRT1956748	hsa-miR-4526	CLIP-seq
MIRT1956749	hsa-miR-4711-5p	CLIP-seq
MIRT2194021	hsa-miR-3145-3p	CLIP-seq
MIRT865734	hsa-miR-323-3p	CLIP-seq
MIRT2194022	hsa-miR-3606	CLIP-seq
MIRT2194023	hsa-miR-365	CLIP-seq
MIRT2194024	hsa-miR-425	CLIP-seq
MIRT865733	hsa-miR-1277	CLIP-seq
MIRT865731	hsa-miR-1178	CLIP-seq
MIRT2497391	hsa-miR-1193	CLIP-seq
MIRT865732	hsa-miR-1244	CLIP-seq
MIRT865733	hsa-miR-1277	CLIP-seq
MIRT2194021	hsa-miR-3145-3p	CLIP-seq
MIRT865734	hsa-miR-323-3p	CLIP-seq
MIRT2194022	hsa-miR-3606	CLIP-seq
MIRT2497392	hsa-miR-3619-3p	CLIP-seq
MIRT2194023	hsa-miR-365	CLIP-seq
MIRT2497393	hsa-miR-3664-3p	CLIP-seq
MIRT2497394	hsa-miR-3675-5p	CLIP-seq
MIRT2497395	hsa-miR-410	CLIP-seq
MIRT2194024	hsa-miR-425	CLIP-seq
MIRT865735	hsa-miR-4275	CLIP-seq
MIRT2497396	hsa-miR-4436a	CLIP-seq
MIRT2497397	hsa-miR-4520b-3p	CLIP-seq
MIRT2497398	hsa-miR-4529-3p	CLIP-seq
MIRT2497399	hsa-miR-4534	CLIP-seq
MIRT2497400	hsa-miR-4535	CLIP-seq
MIRT2497401	hsa-miR-4633-3p	CLIP-seq
MIRT2497402	hsa-miR-4641	CLIP-seq
MIRT2497403	hsa-miR-4677-3p	CLIP-seq
MIRT2497404	hsa-miR-4698	CLIP-seq
MIRT2497405	hsa-miR-4776-5p	CLIP-seq
MIRT2497406	hsa-miR-490-5p	CLIP-seq
MIRT2497407	hsa-miR-510	CLIP-seq
MIRT2497408	hsa-miR-624	CLIP-seq
MIRT2497409	hsa-miR-938	CLIP-seq
MIRT865731	hsa-miR-1178	CLIP-seq
MIRT2497391	hsa-miR-1193	CLIP-seq
MIRT2677471	hsa-miR-1225-3p	CLIP-seq
MIRT2677472	hsa-miR-1233	CLIP-seq
MIRT865732	hsa-miR-1244	CLIP-seq
MIRT865733	hsa-miR-1277	CLIP-seq
MIRT2194021	hsa-miR-3145-3p	CLIP-seq
MIRT865734	hsa-miR-323-3p	CLIP-seq
MIRT2194022	hsa-miR-3606	CLIP-seq
MIRT2497392	hsa-miR-3619-3p	CLIP-seq
MIRT2194023	hsa-miR-365	CLIP-seq
MIRT2497393	hsa-miR-3664-3p	CLIP-seq
MIRT2497394	hsa-miR-3675-5p	CLIP-seq
MIRT2497395	hsa-miR-410	CLIP-seq
MIRT2194024	hsa-miR-425	CLIP-seq
MIRT865735	hsa-miR-4275	CLIP-seq
MIRT2497396	hsa-miR-4436a	CLIP-seq
MIRT2497397	hsa-miR-4520b-3p	CLIP-seq
MIRT2497398	hsa-miR-4529-3p	CLIP-seq
MIRT2497399	hsa-miR-4534	CLIP-seq
MIRT2497400	hsa-miR-4535	CLIP-seq
MIRT2497401	hsa-miR-4633-3p	CLIP-seq
MIRT2497402	hsa-miR-4641	CLIP-seq
MIRT2497403	hsa-miR-4677-3p	CLIP-seq
MIRT2497404	hsa-miR-4698	CLIP-seq
MIRT2497405	hsa-miR-4776-5p	CLIP-seq
MIRT2497406	hsa-miR-490-5p	CLIP-seq
MIRT2497407	hsa-miR-510	CLIP-seq
MIRT2497408	hsa-miR-624	CLIP-seq
MIRT2497409	hsa-miR-938	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004090	Function	Carbonyl reductase (NADPH) activity	IBA	21873635
GO:0004090	Function	Carbonyl reductase (NADPH) activity	IDA	18449627
GO:0005829	Component	Cytosol	TAS
GO:0016655	Function	Oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor	IDA	19442656
GO:0017144	Process	Drug metabolic process	IDA	18449627
GO:0019371	Process	Cyclooxygenase pathway	TAS
GO:0030855	Process	Epithelial cell differentiation	IEP	21492153
GO:0042373	Process	Vitamin K metabolic process	IDA	18449627
GO:0047020	Function	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity	IEA
GO:0047021	Function	15-hydroxyprostaglandin dehydrogenase (NADP+) activity	ISS
GO:0050221	Function	Prostaglandin-E2 9-reductase activity	ISS
GO:0050221	Function	Prostaglandin-E2 9-reductase activity	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:1903561	Component	Extracellular vesicle	HDA	24769233

Other IDs

• MIM: 114830
• HGNC: 1548
• e!Ensembl: ENSG00000159228

Protein

• UniProt ID: P16152
• Protein name: Carbonyl reductase [NADPH] 1 (EC 1.1.1.184) (15-hydroxyprostaglandin dehydrogenase [NADP(+)]) (EC 1.1.1.196, EC 1.1.1.197) (20-beta-hydroxysteroid dehydrogenase) (Alcohol dehydrogenase [NAD(P)+] CBR1) (EC 1.1.1.71) (NADPH-dependent carbonyl reductase 1) (
• Protein function: NADPH-dependent reductase with broad substrate specificity. Catalyzes the reduction of a wide variety of carbonyl compounds including quinones, prostaglandins, menadione, plus various xenobiotics. Catalyzes the reduction of the antitumor anthrac
• PDB: 1WMA, 2PFG, 3BHI, 3BHJ, 3BHM, 4Z3D
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00106	adh_short	6 → 152	short chain dehydrogenase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in kidney (at protein level). {ECO:0000269|PubMed:1597188}.
• Sequence:

  MSSGIHVALVTGGNKGIGLAIVRDLCRLFSGDVVLTARDVTRGQAAVQQLQAEGLSPRFH
  QLDIDDLQSIRALRDFLRKEYGGLDVLVNNAGIAFKVADPTPFHIQAEVTMKTNFFGTRD
  VCTELLPLIKPQGRVVNVSSIMSVRALKSCSPELQQKFRSETITEEELVGLMNKFVEDTK
  KGVHQKEGWPSSAYGVTKIGVTVLSRIHARKLSEQRKGDKILLNACCPGWVRTDMAGPKA
  TKSPEEGAETPVYLALLPPDAEGPHGQFVSEKRVEQW

• Sequence length: 277

Pathways

KEGG:

Arachidonic acid metabolism
Folate biosynthesis
Metabolism of xenobiotics by cytochrome P450
Metabolic pathways
Chemical carcinogenesis - DNA adducts
Chemical carcinogenesis - reactive oxygen species

Reactome:

Synthesis of Prostaglandins (PG) and Thromboxanes (TX)

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cardiomyopathy	Cardiomyopathies, Primary, Cardiomyopathies	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	11016643
Colonic neoplasms	Malignant tumor of colon, Colonic Neoplasms	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483	21056497
Dermatitis	Dermatitis, Irritant	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	25818598
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17013881

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	30531928
Adenocarcinoma in Situ	Associate	31568004
Aortic Aneurysm Abdominal	Associate	26287481
Arthritis Rheumatoid	Associate	26082314
Breast Neoplasms	Associate	25003827, 25526449, 28618256
Cap Myopathy	Associate	21178489
Carcinogenesis	Associate	22121107, 23430757
Carcinogenesis	Inhibit	23960441, 32917645
Carcinoma Hepatocellular	Associate	24757656
Carcinoma Pancreatic Ductal	Associate	29224225
Carcinoma Papillary	Associate	16316978
Carcinoma Squamous Cell	Associate	31568004
Cardiomyopathies	Associate	22124095
Cardiotoxicity	Associate	20729274, 34887513
Cholangiocarcinoma	Inhibit	34880125
Choledochal Cyst	Associate	16316978
Chorioamnionitis	Inhibit	25048443
Chromosome 4q Syndrome	Associate	22302627
Colitis Ulcerative	Inhibit	16195422
Colonic Neoplasms	Associate	30931980
Colorectal Neoplasms	Inhibit	15574495
Colorectal Neoplasms	Associate	23442768, 23960441, 24694755, 24760190, 28402256, 30931980, 31646799
Crohn Disease	Inhibit	16195422
Diabetes Mellitus Type 1	Associate	15635070
Diabetic Nephropathies	Associate	39336582
Down Syndrome	Associate	20729274, 24562808
Drug Related Side Effects and Adverse Reactions	Associate	29141648
Ductus Arteriosus Patent	Associate	22302627
Endometrial Neoplasms	Associate	30168128
Esophageal Squamous Cell Carcinoma	Associate	22499122
Gastritis Atrophic	Inhibit	22416177
Gastrointestinal Neoplasms	Associate	15574495, 26328486
Gastrointestinal Neoplasms	Inhibit	23430757
Heart Defects Congenital	Associate	22302627
Hypoxia	Stimulate	23442768, 24975222
Ichthyosis X Linked	Associate	30816547
Inflammation	Associate	32917645
Inflammatory Bowel Diseases	Inhibit	16195422
Intracranial Aneurysm	Associate	29042428
Labor Pain	Associate	29249255
Leukemia Myeloid Acute	Associate	29141648, 36246561
Lung Neoplasms	Inhibit	22121107
Lung Neoplasms	Associate	22531821
Lymphatic Metastasis	Inhibit	29224225
Mental Disorders	Associate	23272063
Multiple Myeloma	Associate	37775746
Neoplasms	Inhibit	19108014, 19667157, 19917058, 23430757, 28402256, 28922414, 29224225
Neoplasms	Associate	25526449
Obesity	Associate	29117945
Osteoarthropathy Primary Hypertrophic	Associate	23473280, 33550138, 37226222
Pancreatic Neoplasms	Associate	19820419, 29224225
Peeling Skin Syndrome	Inhibit	25048443
Periodic fever familial autosomal dominant	Associate	31568004
Polycystic Ovary Syndrome	Inhibit	39381438
Polyps	Inhibit	22416177
Polyps	Associate	22551900
Pre Eclampsia	Associate	36982197
Precancerous Conditions	Inhibit	22416177
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	36738086
Psychological Distress	Associate	35916411
Smoke Inhalation Injury	Associate	31568004
Squamous Cell Carcinoma of Head and Neck	Associate	27561985
Stomach Neoplasms	Inhibit	19108014
Stomach Neoplasms	Associate	19917058, 20093479, 22416177, 30531928
Urinary Bladder Neoplasms	Associate	20093479
Uterine Cervical Neoplasms	Associate	30333561
Varicose Veins	Associate	24505358