TXNRD2 (thioredoxin reductase 2)

Gene

• Entrez ID: 10587
• Gene name: Thioredoxin reductase 2
• Gene symbol: TXNRD2
• Synonyms (NCBI Gene): GCCD5, SELZ, TR, TR-BETA, TR3, TRXR2, TXNR2
• Chromosome: 22
• Chromosome location: 22q11.21
• Summary: The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing fla

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200606822	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs202059967	A>C,G	Uncertain-significance, likely-benign, likely-pathogenic	Stop gained, synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005748	hsa-miR-17-3p	Luciferase reporter assay, Quantitative proteomic approach, Western blot	21203553
MIRT044324	hsa-miR-106b-5p	CLASH	23622248
MIRT039271	hsa-miR-671-5p	CLASH	23622248
MIRT495538	hsa-miR-7851-3p	PAR-CLIP	22291592
MIRT495537	hsa-miR-3929	PAR-CLIP	22291592
MIRT495536	hsa-miR-4419b	PAR-CLIP	22291592
MIRT495535	hsa-miR-4478	PAR-CLIP	22291592
MIRT495534	hsa-miR-6765-3p	PAR-CLIP	22291592
MIRT495533	hsa-miR-619-5p	PAR-CLIP	22291592
MIRT495532	hsa-miR-6506-5p	PAR-CLIP	22291592
MIRT495531	hsa-miR-5191	PAR-CLIP	22291592
MIRT495530	hsa-miR-6762-3p	PAR-CLIP	22291592
MIRT005748	hsa-miR-17-3p	qRT-PCR, Western blot	27505139
MIRT495538	hsa-miR-7851-3p	PAR-CLIP	22291592
MIRT495537	hsa-miR-3929	PAR-CLIP	22291592
MIRT495536	hsa-miR-4419b	PAR-CLIP	22291592
MIRT495535	hsa-miR-4478	PAR-CLIP	22291592
MIRT495534	hsa-miR-6765-3p	PAR-CLIP	22291592
MIRT495533	hsa-miR-619-5p	PAR-CLIP	22291592
MIRT495532	hsa-miR-6506-5p	PAR-CLIP	22291592
MIRT495531	hsa-miR-5191	PAR-CLIP	22291592
MIRT495530	hsa-miR-6762-3p	PAR-CLIP	22291592
MIRT1465591	hsa-miR-1343	CLIP-seq
MIRT1465592	hsa-miR-151-5p	CLIP-seq
MIRT1465593	hsa-miR-151b	CLIP-seq
MIRT1465594	hsa-miR-193a-5p	CLIP-seq
MIRT1465595	hsa-miR-3176	CLIP-seq
MIRT1465596	hsa-miR-3922-3p	CLIP-seq
MIRT1465597	hsa-miR-4757-5p	CLIP-seq
MIRT1465598	hsa-miR-4793-5p	CLIP-seq
MIRT2139950	hsa-miR-1909	CLIP-seq
MIRT2139951	hsa-miR-3692	CLIP-seq
MIRT2139952	hsa-miR-4464	CLIP-seq
MIRT2139953	hsa-miR-4748	CLIP-seq
MIRT2396550	hsa-miR-146b-3p	CLIP-seq
MIRT2396551	hsa-miR-3173-5p	CLIP-seq
MIRT2396552	hsa-miR-874	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000305	Process	Response to oxygen radical	TAS	10455115
GO:0004791	Function	Thioredoxin-disulfide reductase (NADPH) activity	IBA
GO:0004791	Function	Thioredoxin-disulfide reductase (NADPH) activity	IEA
GO:0004791	Function	Thioredoxin-disulfide reductase (NADPH) activity	ISS
GO:0004791	Function	Thioredoxin-disulfide reductase (NADPH) activity	TAS	9923614
GO:0005515	Function	Protein binding	IPI	20413580
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	10215850
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0010269	Process	Response to selenium ion	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016668	Function	Oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043025	Component	Neuronal cell body	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045454	Process	Cell redox homeostasis	IBA
GO:0045454	Process	Cell redox homeostasis	IEA
GO:0045454	Process	Cell redox homeostasis	IMP	24601690
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA
GO:0055093	Process	Response to hyperoxia	IEA
GO:0098869	Process	Cellular oxidant detoxification	IEA

Other IDs

• MIM: 606448
• HGNC: 18155
• e!Ensembl: ENSG00000184470

Protein

• UniProt ID: Q9NNW7
• Protein name: Thioredoxin reductase 2, mitochondrial (EC 1.8.1.9) (Selenoprotein Z) (SelZ) (TR-beta) (Thioredoxin reductase TR3)
• Protein function: Involved in the control of reactive oxygen species levels and the regulation of mitochondrial redox homeostasis (PubMed:24601690). Maintains thioredoxin in a reduced state. May play a role in redox-regulated cell signaling. {ECO:0000250|UniProtK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07992	Pyr_redox_2	40 → 375	Pyridine nucleotide-disulphide oxidoreductase	Domain
  PF02852	Pyr_redox_dim	395 → 508	Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in the prostate, ovary, liver, testis, uterus, colon and small intestine. Intermediate levels in brain, skeletal muscle, heart and spleen. Low levels in placenta, pancreas, thymus and peripheral blood leukocytes. Accor
• Sequence:

  MAAMAVALRGLGGRFRWRTQAVAGGVRGAARGAAAGQRDYDLLVVGGGSGGLACAKEAAQ
  LGRKVAVVDYVEPSPQGTRWGLGGTCVNVGCIPKKLMHQAALLGGLIQDAPNYGWEVAQP
  VPHDWRKMAEAVQNHVKSLNWGHRVQLQDRKVKYFNIKASFVDEHTVCGVAKGGKEILLS
  ADHIIIATGGRPRYPTHIEGALEYGITSDDIFWLKESPGKTLVVGASYVALECAGFLTGI
  GLDTTIMMRSIPLRGFDQQMSSMVIEHMASHGTRFLRGCAPSRVRRLPDGQLQVTWEDST
  TGKEDTGTFDTVLWAIGRVPDTRSLNLEKAGVDTSPDTQKILVDSREATSVPHIYAIGDV
  VEGRPELTPIAIMAGRLLVQRLFGGSSDLMDYDNVPTTVFTPLEYGCVGLSEEEAVARHG
  QEHVEVYHAHYKPLEFTVAGRDASQCYVKMVCLREPPQLVLGLHFLGPNAGEVTQGFALG
  IKCGASYAQVMRTVGIHPTCSEEVVKLRISKRSGLDPTVTGCUG

• Sequence length: 524

Pathways

KEGG:

Selenocompound metabolism
Pathways in cancer
Hepatocellular carcinoma

Reactome:

Detoxification of Reactive Oxygen Species

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign; Uncertain significance	rs76692419, rs35695986, rs200610775	RCV005915574 RCV005895323 RCV005902107
Cardiomyopathy	Conflicting classifications of pathogenicity	rs373979810	RCV000208059
Cardiovascular phenotype	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	rs368561764, rs768600057, rs781473800, rs758790391, rs188258380, rs755356370, rs752947034, rs112854076, rs531899091, rs1044687486, rs2146120283, rs554063995, rs773930137, rs745421312, rs780233789, rs146133764, rs200063300, rs746370708, rs550803593, rs374068797, rs3747068, rs375650172, rs1388056453, rs773449032, rs994880290, rs61736941, rs376336621, rs373970291, rs571571452, rs780014083, rs1159919237, rs144497090, rs925920723, rs760570314, rs775856560, rs753380240, rs368176907, rs756196216, rs747572047, rs574389555, rs772667712, rs367711380, rs759613137, rs753841469, rs543644944, rs758236709, rs766448975, rs752857898, rs749157073, rs1388670551, rs371797598, rs765171416, rs576244023, rs1449070418, rs762060966, rs2145970224, rs377072227, rs1938875775, rs1194743410, rs763086193, rs536545192, rs1601501125, rs774604998, rs939642675, rs1416081507, rs919971767, rs1292463748, rs1296549321, rs764564683, rs373703741, rs2517388148, rs1569073275, rs758941896, rs745896340, rs1233718819, rs201123742, rs777907161, rs748674090, rs1388977857, rs775877650, rs2517388228, rs1357417345, rs1459413191, rs371149646, rs1317408863, rs761671459, rs764621618, rs1307977717, rs1388875479, rs371918416, rs2517274999, rs947152207, rs901020754, rs376808071, rs529965782, rs2517275099, rs978297157, rs2517323032, rs1939596501, rs1019205992, rs780964676, rs1212092824, rs2517313955, rs1470456087, rs369960227, rs1395120530, rs1250207795, rs752178604, rs1259831281, rs1186157435, rs1007360232, rs1201445911, rs368690320, rs1444083785, rs565329400, rs2517314501, rs2517283039, rs754609974, rs1032624911, rs2517274854, rs2517274829, rs5992495, rs187065627, rs1318396961, rs2517268954, rs374967343, rs1036191651, rs2517393658, rs931478209, rs375338503, rs2517266721, rs1180288543, rs2517421679, rs200312334, rs2517269115, rs778309862, rs1317064619, rs372446673, rs1379775084, rs571085983, rs746380381, rs752863555, rs2517282619, rs374032231, rs2517276748, rs746744099, rs1313908318, rs866665461, rs1009388190, rs1230683925, rs1478755042, rs973009432, rs780948248, rs371539674, rs1294156190, rs1465316102, rs577533142, rs1301499289, rs553844427, rs867369272, rs2517322899, rs375498636, rs1474684045, rs866667235, rs371533709, rs1054103249, rs371153395, rs758028882, rs749643976, rs759374389, rs869025560, rs373979810, rs767236339, rs2517314770, rs1157557232, rs1265487701, rs1306257481, rs2517444826, rs1280010254, rs1336405554, rs2517313887, rs1432720365, rs1168679070, rs751340186, rs45581136, rs35099271, rs35695986, rs201177571, rs199510610, rs148092370, rs767140410, rs1367042802, rs2517322771, rs780972706, rs1212168997, rs769258408, rs201391000, rs202059967, rs1139793, rs1139795, rs886038873, rs201971987, rs371700934, rs192869629, rs76079250, rs35544159, rs202225486, rs200076623, rs777650793, rs5748470, rs182857388, rs5748469, rs766288973, rs11541479, rs1209069617, rs747273077, rs1939468915, rs1941729818, rs180876642, rs778541958, rs1004841892, rs918021854, rs1334948231, rs966662412, rs781778102, rs375701461, rs1024569640, rs1479345231, rs866182765, rs767878935, rs202091972, rs1374469315, rs2517370188, rs1346246087, rs199734322, rs2517313981, rs747743252, rs2517421953, rs1938724097, rs1231437795, rs2517269986, rs2517266629, rs1187741393, rs1253053490, rs2517445068, rs1486247417, rs200981451, rs768796378, rs969582646, rs544242322, rs144584524, rs183950022, rs755751835, rs200619889, rs557142042, rs61736929, rs190301927, rs201760306, rs370819229, rs147383232, rs989125451, rs201503021, rs368200536, rs138462062, rs201658653, rs1429174414, rs200606822, rs781228620, rs978493213, rs553337931, rs1259706318, rs1388529732, rs376363162, rs756559860, rs201913959, rs762695606, rs200942544, rs186462665, rs372803804, rs751116028, rs370957634, rs532340383, rs369142382, rs184640901, rs752213778, rs562298402, rs757704344, rs376463546, rs201222740, rs543290126, rs373979565, rs1219814151, rs770727890, rs777384922, rs373839226, rs768999643, rs774909194, rs367754522, rs559964753, rs781432469, rs777357363, rs371075332, rs199765650, rs779740988, rs1317400468, rs754916024, rs374364917, rs1315091228, rs766076027, rs201349663, rs760799626, rs905391308, rs762714876, rs1008629337, rs923193498, rs200610775, rs752481782, rs372301925, rs575321083, rs558954630, rs1454322676, rs767844402, rs1601384637, rs201943415, rs776104767, rs767323099, rs377598025, rs960610186, rs766934707, rs371547623, rs751123675, rs747350610, rs201531690, rs1409074647, rs1246351128, rs1162449700, rs755703700, rs774708598, rs528059873, rs1938879786, rs763888077, rs886509891, rs749100112, rs368359642, rs888739263, rs759298418, rs375708279, rs1569068105, rs1289412583, rs749057584	RCV002395688 RCV002384401 RCV004035027 RCV002384447 RCV002368148 RCV002329306 RCV002395818 RCV002357224 RCV004995712 RCV002322359 RCV002322351 RCV003346545 RCV002322391 RCV002438923 RCV003298745 RCV002396114 RCV002396080 RCV002449266 RCV002421019 RCV004995900 RCV002351016 RCV002368556 RCV002386459 RCV002388593 RCV002388608 RCV002388610 RCV003382644 RCV002343840 RCV002414333 RCV002386564 RCV005772225 RCV002397899 RCV002407173 RCV005503194 RCV002343966 RCV002425301 RCV004990525 RCV002398028 RCV005772244 RCV002334793 RCV005513147 RCV002388857 RCV004990538 RCV002391135 RCV003303426 RCV002331619 RCV003303264 RCV002370684 RCV003164133 RCV004039094 RCV002423089 RCV002388813 RCV003303613 RCV005772270 RCV005288661 RCV002443010 RCV006352461 RCV002409533 RCV003303696 RCV003308038 RCV002372920 RCV004047124 RCV003161466 RCV005772344 RCV002398151 RCV005772349 RCV002382410 RCV003161413 RCV005288745 RCV002319866 RCV002349236 RCV002323209 RCV002326590 RCV002321047 RCV002452538 RCV002327930 RCV002320805 RCV002375581 RCV002332029 RCV002455189 RCV002349315 RCV002357527 RCV002330008 RCV002335388 RCV002340690 RCV002338377 RCV002349654 RCV002357968 RCV002330425 RCV002340419 RCV002340422 RCV002344215 RCV002346963 RCV002349427 RCV002355755 RCV002344872 RCV002344937 RCV002344949 RCV002353510 RCV002335426 RCV002366852 RCV002378182 RCV002371099 RCV002393968 RCV002419113 RCV002434907 RCV002371482 RCV002369600 RCV002369661 RCV002391542 RCV002385261 RCV002385389 RCV002378303 RCV002365093 RCV002367320 RCV002384877 RCV002419538 RCV002421315 RCV002427855 RCV002447857 RCV002385196 RCV002367204 RCV002382764 RCV002419341 RCV002445934 RCV002449896 RCV002371655 RCV002387947 RCV002392079 RCV002389847 RCV002392298 RCV002401569 RCV002389433 RCV002397067 RCV002389812 RCV002405682 RCV002414776 RCV002385458 RCV002396568 RCV002396638 RCV002396937 RCV002403410 RCV002401060 RCV002407893 RCV002403047 RCV002401654 RCV002420032 RCV002430573 RCV002428339 RCV002426129 RCV002428938 RCV002453215 RCV002423807 RCV002424188 RCV002424190 RCV002446222 RCV002446366 RCV002441940 RCV002431283 RCV002435707 RCV002435628 RCV004992458 RCV004070245 RCV003171032 RCV004070171 RCV005774551 RCV004073215 RCV003294539 RCV005515526 RCV003162059 RCV005505468 RCV003308198 RCV004088738 RCV002381719 RCV002381718 RCV003298275 RCV002444837 RCV000252191 RCV004139553 RCV004163934 RCV004233562 RCV003171183 RCV003171596 RCV003171597 RCV003171184 RCV003171598 RCV003171599 RCV003171600 RCV003171186 RCV003187268 RCV000248402 RCV000242101 RCV000621481 RCV002444908 RCV000617790 RCV000245207 RCV002379011 RCV004278659 RCV003213778 RCV003213779 RCV003213780 RCV000254150 RCV000242811 RCV000245936 RCV000252205 RCV000251206 RCV000254317 RCV000251101 RCV000244103 RCV000246128 RCV000253691 RCV000243706 RCV000247798 RCV000249013 RCV000247540 RCV000250205 RCV000248215 RCV000247634 RCV000244827 RCV000243035 RCV000254410 RCV000246463 RCV000250227 RCV000248552 RCV000245229 RCV003296217 RCV003305752 RCV003310783 RCV003310785 RCV003310786 RCV003310787 RCV003310788 RCV003310789 RCV003310790 RCV003310791 RCV004676194 RCV003385815 RCV003382127 RCV003382128 RCV003382129 RCV005505686 RCV005764858 RCV004992664 RCV004374350 RCV005764910 RCV004484068 RCV004484069 RCV004516867 RCV004516868 RCV004516869 RCV004516870 RCV004516871 RCV004516872 RCV004516873 RCV004516874 RCV004516875 RCV004516876 RCV004516877 RCV004516878 RCV004516879 RCV004516880 RCV002393046 RCV000619724 RCV000619558 RCV002393059 RCV002329004 RCV002393032 RCV002379375 RCV000620550 RCV000621733 RCV002356588 RCV000619691 RCV000619845 RCV004678712 RCV000618863 RCV003338597 RCV002411447 RCV000619416 RCV002438207 RCV003159610 RCV000617630 RCV000621919 RCV003159677 RCV003159676 RCV003159698 RCV002323890 RCV002404363 RCV002395276 RCV003159713 RCV000619876 RCV000617177 RCV005771996 RCV002431507 RCV002420339 RCV002420338 RCV002438573 RCV002334025 RCV002368053 RCV002368039 RCV002331058 RCV000622185 RCV002384326 RCV002360465 RCV000617847 RCV000620353 RCV000620034 RCV000618377 RCV000619340 RCV000618674 RCV000621600 RCV000618180 RCV000618225 RCV000618202 RCV002385972 RCV002457980 RCV003302971 RCV002343188 RCV004678769 RCV002360494 RCV005772014 RCV005512804 RCV002440486 RCV002352144 RCV002424626 RCV002442457 RCV005286179 RCV002388344 RCV002424650 RCV004026497 RCV002388433 RCV004028069 RCV004994011 RCV002453831 RCV002453797 RCV002370139 RCV002397609 RCV002352476 RCV002336761 RCV005286240 RCV002442833 RCV002453973 RCV003307757 RCV003169473 RCV005298645 RCV004994105 RCV003160458 RCV002379542 RCV004678921 RCV002363584 RCV005772075 RCV002348446 RCV003339436 RCV002445238 RCV002445260 RCV005502972 RCV003346285 RCV004032463 RCV002365997 RCV003163572 RCV002375134 RCV002402636 RCV003380880 RCV003166416 RCV002348763 RCV002379901 RCV002356957 RCV003163772 RCV004033278 RCV002375274 RCV002430030 RCV002393610 RCV004679037 RCV003294221 RCV004679057 RCV002430109 RCV003166765 RCV002437009
Cervical cancer	Benign; Likely benign	rs76692419, rs147120537, rs41431147	RCV005915576 RCV005898005 RCV005898044
Cholangiocarcinoma	Likely benign; Benign	rs754998172, rs34751052	RCV005928164 RCV005905482
Colon adenocarcinoma	Benign	rs35695986	RCV005895322
Ependymoma	Uncertain significance	rs1555906972	RCV000577838
Familial cancer of breast	Benign; Likely benign	rs147120537, rs41431147, rs5993865	RCV005898004 RCV005898043 RCV005906881
Gastric cancer	Benign	rs76692419, rs35695986, rs5993865	RCV005915577 RCV005895326 RCV005906882
Glucocorticoid deficiency 5	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs768600057, rs758790391, rs2146120283, rs61736941, rs35599379, rs373970291, rs747572047, rs752863555, rs368359642, rs200162480, rs199510610, rs148092370, rs202059967, rs1139793, rs76079250, rs777650793, rs5748470, rs5748469, rs144584524, rs183950022, rs557142042, rs9606176, rs116054286, rs147120537, rs2239893, rs925920723, rs1429174414, rs780054798, rs201913959, rs373839226, rs201349663, rs200610775, rs759298418, rs376616232, rs749057584	RCV002504490 RCV002486348 RCV002488162 RCV002488412 RCV002495976 RCV002506807 RCV005860268 RCV002479769 RCV002497806 RCV004019759 RCV005863065 RCV002494652 RCV000539064 RCV002244724 RCV002494795 RCV002494785 RCV002244725 RCV002244723 RCV002502589 RCV001270087 RCV002481335 RCV002244904 RCV002502575 RCV002488936 RCV002244897 RCV002506115 RCV004568628 RCV003227778 RCV003224313 RCV002499023 RCV002495074 RCV002495185 RCV002499393 RCV004799324 RCV002476379
Lung cancer	Benign	rs76692419, rs5993865	RCV005915580 RCV005906885
Malignant tumor of esophagus	Benign	rs76692419, rs35695986	RCV005915575 RCV005895324
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	rs76692419, rs200610775	RCV005915578 RCV005902108
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	rs368561764, rs768600057, rs1938724361, rs757239766, rs1940404247, rs552910679, rs781473800, rs770442788, rs758790391, rs188258380, rs1255947483, rs755356370, rs768403549, rs752947034, rs112854076, rs531899091, rs756368327, rs1044687486, rs2146120283, rs554063995, rs2145927277, rs773930137, rs745421312, rs759106464, rs2146024963, rs533782247, rs2145927256, rs1209514919, rs780233789, rs146133764, rs2145927131, rs200063300, rs780563496, rs746370708, rs746457439, rs550803593, rs768078454, rs750889743, rs1242700354, rs371075332, rs374068797, rs3747068, rs368172149, rs2020917, rs375650172, rs1388056453, rs773449032, rs61736941, rs934895346, rs748674090, rs757519340, rs373970291, rs571571452, rs780014083, rs1159919237, rs2146120227, rs770435568, rs144497090, rs2145970512, rs925920723, rs199734322, rs760570314, rs775856560, rs2145932871, rs774694967, rs753380240, rs2146049658, rs368176907, rs756196216, rs747572047, rs2145927925, rs574389555, rs772667712, rs367711380, rs759613137, rs1429132177, rs1489194482, rs2145927851, rs753841469, rs543644944, rs752863555, rs918796709, rs758236709, rs766448975, rs1221993025, rs778588418, rs752857898, rs749157073, rs182857388, rs1388670551, rs371797598, rs1307604976, rs758941896, rs765171416, rs2145933186, rs576244023, rs368359642, rs1449070418, rs762060966, rs2145970224, rs377072227, rs1416399071, rs754998172, rs543441133, rs531374621, rs2145979515, rs1938875775, rs755455290, rs1569070557, rs541350051, rs2145939709, rs917431888, rs1194743410, rs1158625236, rs141500917, rs2145976926, rs753065216, rs763086193, rs762625233, rs2145939546, rs536545192, rs779646678, rs778583264, rs1188379074, rs1601501125, rs774604998, rs2146120385, rs1383048604, rs2145970463, rs1166950452, rs41431147, rs938145163, rs1460726198, rs540907669, rs2145970318, rs775588476, rs939642675, rs1416081507, rs1938606312, rs1452168947, rs942304915, rs1375808016, rs919971767, rs767028260, rs753045205, rs2145933207, rs373979810, rs200162480, rs1292463748, rs373223971, rs763666305, rs779542396, rs1333679310, rs373703741, rs730880248, rs745896340, rs371149646, rs764621618, rs1307977717, rs371918416, rs901020754, rs376808071, rs1939596501, rs1212092824, rs1470456087, rs368690320, rs1444083785, rs565329400, rs2517283039, rs754609974, rs1032624911, rs2517274829, rs5992495, rs374967343, rs1036191651, rs375338503, rs1180288543, rs200312334, rs778309862, rs1317064619, rs372446673, rs746744099, rs866665461, rs1009388190, rs1230683925, rs780948248, rs1294156190, rs577533142, rs1301499289, rs553844427, rs2517379785, rs1939463020, rs867369272, rs747783774, rs2517379564, rs777806288, rs1941724119, rs1197693980, rs1410697719, rs531699366, rs2517322899, rs375498636, rs776316388, rs372709644, rs1165554583, rs1474684045, rs866667235, rs371533709, rs966574737, rs2517266707, rs767490146, rs1303945518, rs1051972970, rs1054103249, rs371153395, rs770945312, rs1173322116, rs112654486, rs2517266440, rs369332144, rs2517275058, rs778024620, rs1019958523, rs9606176, rs2517393339, rs748298389, rs2517269957, rs2517422075, rs2517283042, rs561134669, rs1395904348, rs1019205992, rs775392322, rs142727613, rs1941342990, rs755663926, rs371700934, rs375843760, rs749643976, rs759374389, rs779054925, rs869025560, rs767236339, rs1265487701, rs1336405554, rs35099271, rs187065627, rs35695986, rs201177571, rs199510610, rs148092370, rs767140410, rs769258408, rs201391000, rs202059967, rs1139793, rs1139795, rs886038873, rs201971987, rs192869629, rs76079250, rs35544159, rs202225486, rs200076623, rs777650793, rs5748470, rs5748469, rs766288973, rs11541479, rs2517266508, rs180876642, rs1004841892, rs918021854, rs781778102, rs375701461, rs1479345231, rs747350610, rs1162356991, rs2517445051, rs767878935, rs765242435, rs1233207996, rs748858662, rs370913885, rs992536525, rs1219704005, rs202091972, rs907571604, rs1374469315, rs760016716, rs758979737, rs2517327215, rs2145927114, rs563775080, rs1354650556, rs776896078, rs2517444615, rs2517276796, rs2517276801, rs1425620265, rs1204795034, rs1940765606, rs2517381926, rs770361302, rs966662412, rs773949487, rs890339708, rs1941728679, rs1220349719, rs771161029, rs370805689, rs780115745, rs754333289, rs1443401495, rs1432720365, rs1167544136, rs2517370188, rs2517269192, rs1346246087, rs2517388335, rs374143850, rs201913959, rs1433962762, rs34827823, rs1940724124, rs764491564, rs756254595, rs897456386, rs969582646, rs374202570, rs544242322, rs144584524, rs183950022, rs755751835, rs200108545, rs200619889, rs577814757, rs12169091, rs557142042, rs45550336, rs61736929, rs113605285, rs377040175, rs116054286, rs147120537, rs45536341, rs190301927, rs374333900, rs2239893, rs377699868, rs201760306, rs9606178, rs370819229, rs147383232, rs1060501405, rs758006460, rs989125451, rs201503021, rs1060501404, rs368200536, rs1060504228, rs887858049, rs138462062, rs770032943, rs756452923, rs201658653, rs1429174414, rs200606822, rs781228620, rs978493213, rs553337931, rs780054798, rs1259706318, rs1388529732, rs757160421, rs376363162, rs756559860, rs762695606, rs200942544, rs186462665, rs372803804, rs372816982, rs189646218, rs377147143, rs200848663, rs751116028, rs370505160, rs938029725, rs772807846, rs180876844, rs369759249, rs370957634, rs143966577, rs375350567, rs370756162, rs532340383, rs369142382, rs184640901, rs373734411, rs767787404, rs752213778, rs562298402, rs757704344, rs376463546, rs201222740, rs543290126, rs373979565, rs770727890, rs777384922, rs373839226, rs768999643, rs774909194, rs367754522, rs559964753, rs781432469, rs777357363, rs1569073275, rs1259831281, rs1569070709, rs199765650, rs779740988, rs1317400468, rs754916024, rs374364917, rs1315091228, rs759650391, rs960962542, rs766076027, rs201349663, rs759476139, rs760799626, rs753524446, rs905391308, rs762714876, rs764378793, rs1008629337, rs923193498, rs200610775, rs201450101, rs752481782, rs781691483, rs372301925, rs575321083, rs558954630, rs1454322676, rs767844402, rs1371426999, rs1000041198, rs201943415, rs776104767, rs767323099, rs1938608628, rs377598025, rs960610186, rs1938727490, rs766934707, rs371547623, rs1938732295, rs200981451, rs1939469611, rs751123675, rs1940724639, rs201531690, rs1940723314, rs1409074647, rs752178604, rs1246351128, rs1940808459, rs1162449700, rs755703700, rs754205571, rs774708598, rs528059873, rs1938879786, rs1939470316, rs763888077, rs886509891, rs749100112, rs888739263, rs759298418, rs746380381, rs375708279, rs1569068105, rs762203465, rs763072970, rs1938606140, rs1289412583, rs749057584	RCV001318743 RCV001317070 RCV001316526 RCV001319339 RCV001317740 RCV001324810 RCV001321226 RCV001351075 RCV001337506 RCV001349976 RCV001350083 RCV001338427 RCV001339833 RCV001364555 RCV001361098 RCV001363494 RCV001369581 RCV001373290 RCV001370439 RCV001413867 RCV001401692 RCV001400565 RCV001400614 RCV001414597 RCV001417386 RCV001435775 RCV001448163 RCV001424167 RCV001434064 RCV001469697 RCV001472338 RCV001459422 RCV001474236 RCV001476814 RCV001454874 RCV001451172 RCV001455575 RCV001468050 RCV001492807 RCV001497503 RCV001488397 RCV001490005 RCV001494221 RCV001521003 RCV002070344 RCV002072144 RCV005094781 RCV001866110 RCV001885086 RCV001868754 RCV002540700 RCV001868726 RCV001868686 RCV002541252 RCV002034689 RCV001913616 RCV002024082 RCV001920489 RCV002039111 RCV002004930 RCV001990739 RCV001903987 RCV001888751 RCV001991332 RCV001920813 RCV001960287 RCV001893349 RCV002005291 RCV001964301 RCV001911883 RCV001981836 RCV001881314 RCV001891298 RCV001929067 RCV001988649 RCV001886376 RCV001954706 RCV001990778 RCV002024618 RCV001964595 RCV002011358 RCV002009363 RCV002016549 RCV001879224 RCV001911998 RCV002018448 RCV002019849 RCV001931949 RCV001886993 RCV002023040 RCV001982097 RCV001907063 RCV001915679 RCV001985530 RCV002001567 RCV002015905 RCV002020216 RCV001937921 RCV001948882 RCV001957084 RCV001986044 RCV001887953 RCV002155440 RCV002148299 RCV002141936 RCV002170759 RCV002112132 RCV002118378 RCV002156856 RCV002097612 RCV002175126 RCV002095454 RCV002097804 RCV002130219 RCV002186096 RCV002093195 RCV002075802 RCV002094953 RCV002195908 RCV002119528 RCV002158678 RCV002136006 RCV002186642 RCV002100358 RCV002110315 RCV002151436 RCV002093727 RCV002112021 RCV002104082 RCV002075907 RCV002074767 RCV002086617 RCV002088866 RCV002122364 RCV002218237 RCV002108602 RCV002164729 RCV002130583 RCV002124436 RCV002182042 RCV002127651 RCV002192153 RCV002174624 RCV002128965 RCV002201473 RCV002116230 RCV002115230 RCV002184220 RCV002203352 RCV001849968 RCV000232891 RCV002215039 RCV002080675 RCV002097169 RCV002303361 RCV002303711 RCV005096368 RCV001857556 RCV003619765 RCV003102420 RCV003120921 RCV005096694 RCV003509717 RCV003509719 RCV005096777 RCV005096820 RCV003120938 RCV005097085 RCV003509740 RCV003103336 RCV003509735 RCV003619783 RCV003509736 RCV003094832 RCV003619776 RCV003098533 RCV003619787 RCV005097297 RCV005097551 RCV003095274 RCV003095214 RCV005097598 RCV003509748 RCV005097490 RCV003095204 RCV003096923 RCV005097734 RCV003101997 RCV003619802 RCV003619794 RCV003619797 RCV005097942 RCV003619805 RCV003619807 RCV003050588 RCV003056892 RCV003076515 RCV003053312 RCV003065315 RCV003066462 RCV003073655 RCV003093535 RCV003089725 RCV003061327 RCV003075090 RCV003088397 RCV002602364 RCV003090397 RCV003080026 RCV003086723 RCV002585101 RCV002636786 RCV002615418 RCV002606000 RCV002650965 RCV002629108 RCV002637797 RCV002632712 RCV002584195 RCV002596833 RCV002608490 RCV002638936 RCV002622694 RCV002636403 RCV002675973 RCV002690167 RCV002755016 RCV002745739 RCV002750340 RCV002711814 RCV002795173 RCV002765909 RCV002795082 RCV002751591 RCV002846580 RCV002816607 RCV002857586 RCV002889222 RCV002886596 RCV002903292 RCV002937553 RCV002932012 RCV002952988 RCV002967183 RCV003011015 RCV003033732 RCV003000195 RCV003045699 RCV003040692 RCV001853318 RCV000208108 RCV000208427 RCV003619662 RCV001036279 RCV001485056 RCV001226871 RCV003778616 RCV005101039 RCV000230034 RCV000227728 RCV000232771 RCV000229913 RCV000227863 RCV000226062 RCV000230279 RCV005090280 RCV000628824 RCV001854998 RCV000863069 RCV001520752 RCV001521902 RCV001505770 RCV000467999 RCV000554605 RCV000470015 RCV001322670 RCV000469152 RCV001308093 RCV001398752 RCV000468749 RCV002059045 RCV001521002 RCV000457381 RCV003509520 RCV001520754 RCV000466871 RCV001520753 RCV000548389 RCV001521741 RCV005102467 RCV005102737 RCV003509798 RCV005102738 RCV003777402 RCV003509815 RCV003509817 RCV003510759 RCV003510845 RCV003510836 RCV003510911 RCV003510913 RCV003511016 RCV003510777 RCV003511076 RCV003511085 RCV003511294 RCV003509203 RCV003509206 RCV003509152 RCV003509197 RCV003509199 RCV003509247 RCV003510042 RCV003510171 RCV003509393 RCV003510358 RCV003510434 RCV003510180 RCV003620558 RCV003620559 RCV003620825 RCV003620924 RCV003621121 RCV003621110 RCV003621389 RCV003621359 RCV003619216 RCV003619326 RCV003619323 RCV003619486 RCV003619565 RCV003620299 RCV003620158 RCV003620194 RCV003620307 RCV003620382 RCV003620431 RCV003620411 RCV003620462 RCV003620492 RCV003813867 RCV003830329 RCV003835703 RCV003869161 RCV003869437 RCV003861582 RCV003861363 RCV003876148 RCV003872750 RCV003871159 RCV003881346 RCV005090853 RCV002060011 RCV002059952 RCV000460933 RCV001851085 RCV003619681 RCV002063491 RCV000861522 RCV002063407 RCV002058932 RCV000686162 RCV002062736 RCV000461588 RCV002062738 RCV002525512 RCV002058931 RCV000471064 RCV002063339 RCV002063464 RCV002059762 RCV000475026 RCV002522615 RCV002062643 RCV001448690 RCV000477109 RCV002058934 RCV000476457 RCV000470631 RCV000477549 RCV001451081 RCV000459764 RCV000458649 RCV000472864 RCV000468936 RCV000461181 RCV001399624 RCV001393980 RCV000469411 RCV000465247 RCV002063814 RCV002063810 RCV000793287 RCV000628804 RCV000544015 RCV001082162 RCV001374084 RCV003619687 RCV003619690 RCV001233755 RCV001853662 RCV000533652 RCV001518551 RCV000537288 RCV000558828 RCV000539623 RCV000541120 RCV000526254 RCV000538026 RCV000527719 RCV000549354 RCV002065217 RCV001444784 RCV002062818 RCV002532776 RCV002062183 RCV005091610 RCV001504897 RCV003117413 RCV002063184 RCV002063269 RCV002066805 RCV002532780 RCV002531537 RCV000628830 RCV002065317 RCV001397451 RCV002528690 RCV002064250 RCV002063996 RCV002063035 RCV001868034 RCV001523191 RCV002532765 RCV000628820 RCV002064103 RCV002062847 RCV001435315 RCV001396552 RCV001361064 RCV001229977 RCV001437103 RCV001053449 RCV002066926 RCV005091762 RCV000628816 RCV002060662 RCV000628808 RCV000628818 RCV000628806 RCV000628828 RCV001486059 RCV000628814 RCV000694873 RCV000698184 RCV000689550 RCV000702857 RCV000686204 RCV000697199 RCV000692701 RCV000691655 RCV000694222 RCV000693438 RCV000705883 RCV000694559 RCV000700046 RCV000821643 RCV000805281 RCV000795124 RCV000797869 RCV000801619 RCV000804991 RCV000796261 RCV000813931 RCV000810915 RCV000805361 RCV000815509 RCV000805177 RCV000818727 RCV000800271 RCV000824638 RCV003509612 RCV000862744 RCV003509617 RCV000866455 RCV000868119 RCV001457218 RCV002066270 RCV001499705 RCV005092622 RCV002540964 RCV001475538 RCV001056908 RCV001050294 RCV001053532 RCV001062483 RCV001042939 RCV001052874 RCV001042108 RCV001061625 RCV001039610 RCV001042938 RCV001059745 RCV001049419 RCV001042402 RCV001037455 RCV001055162 RCV001054192 RCV001223037 RCV001220811 RCV001215214 RCV001207720 RCV001213120 RCV001213177 RCV001204173 RCV001204603 RCV001213779 RCV001208444 RCV001218415 RCV001231949 RCV001226790 RCV001232307 RCV001236167 RCV001234015 RCV001225468 RCV001227561 RCV001235357 RCV001241037 RCV001242600 RCV001239536 RCV001242559 RCV001301206 RCV001303764 RCV001306760 RCV001299883 RCV001300049 RCV001303653 RCV001300406 RCV001296746 RCV001309087 RCV001296477
Primary familial hypertrophic cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	rs373979810, rs200162480, rs730880248, rs869025560, rs767236339, rs775392322	RCV000143974 RCV000143975 RCV000157580 RCV000208206 RCV000208450 RCV000208229
Sarcoma	Benign	rs35695986	RCV005895325
Thymoma	Benign; Uncertain significance	rs35695986, rs200610775, rs34751052, rs5993865	RCV005895327 RCV005902109 RCV005905481 RCV005906884
Thyroid cancer, nonmedullary, 1	Benign	rs35695986	RCV005895328
TXNRD2-associated Cardiomyopathy	Uncertain significance	rs759298418	RCV002265963
TXNRD2-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	rs746370708, rs529169039, rs763086193, rs746744099, rs373979810, rs35099271, rs35695986, rs148092370, rs201391000, rs371700934, rs374133688, rs367672758, rs563747332, rs564037663, rs2517370145, rs2517444980, rs554627343, rs144584524, rs200619889, rs370819229, rs201503021, rs138462062, rs200063300, rs200606822, rs1388529732, rs757160421, rs184640901, rs201222740	RCV003921008 RCV004753362 RCV004731236 RCV003943408 RCV004752798 RCV003939877 RCV003939878 RCV003919970 RCV003920010 RCV004752814 RCV003394411 RCV003414317 RCV003921566 RCV003913816 RCV003951978 RCV003961381 RCV003978958 RCV003925298 RCV004752895 RCV004752899 RCV003418211 RCV003915295 RCV003905316 RCV003942710 RCV003419919 RCV003962459 RCV003953033 RCV003928032
Uterine carcinosarcoma	Benign	rs76692419, rs5993865	RCV005915579 RCV005906883
Uterine corpus endometrial carcinoma	Benign	rs35695986	RCV005895329

Associations from Text Mining
Disease Name	Relationship Type	References
22q11 Deletion Syndrome	Associate	31220439
Breast Neoplasms	Associate	16868544, 20003265, 33885357
Colorectal Neoplasms	Associate	22615972
Cryptorchidism	Associate	38011841
Diabetes Gestational	Associate	38093364
Diabetic Nephropathies	Associate	34545296
DiGeorge Syndrome	Associate	26221035
Familial Glucocorticoid Deficiency 1	Associate	38011841
Fibrosis	Associate	23597419
Glaucoma Open Angle	Associate	30317457, 32476818, 33726755
Hyperoxia	Stimulate	28045936
Kashin Beck Disease	Associate	24058403
Lung Neoplasms	Associate	33332541
Lymphoma	Associate	18422776
Penis agenesis	Associate	38011841
Personality Disorders	Associate	26847995
Prostatic Neoplasms	Associate	21716162, 23133653, 25284284, 26847995, 27197287
Rectal Neoplasms	Associate	22615972