TBX1 (T-box transcription factor 1)

Gene

• Entrez ID: 6899
• Gene name: T-box transcription factor 1
• Gene symbol: TBX1
• Synonyms (NCBI Gene): CAFS, CATCH22, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCF, VCFS
• Chromosome: 22
• Chromosome location: 22q11.21
• Summary: This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino aci

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28939675	T>A	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant
rs74315522	C>G	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant
rs144848597	G>A,C,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs753613632	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs766608075	C>T	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs886042049	->CGAT	Pathogenic	Inframe indel, stop gained, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1057518168	->GCCCAGTCCCCCGAACCCCG	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1425319851	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1445910672	G>A,T	Uncertain-significance, likely-pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, missense variant
rs1466435688	C>G,T	Likely-pathogenic	Synonymous variant, intron variant, coding sequence variant, stop gained
rs1555895466	A>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1555896474	A>G	Pathogenic	Splice acceptor variant
rs1555896814	CC>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1555896828	->GGCTACCACCCGCACGCGCATC	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1569022780	G>A	Pathogenic	Coding sequence variant, stop gained
rs1601294188	C>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1601294362	C>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT041674	hsa-miR-484	CLASH	23622248
MIRT037556	hsa-miR-744-5p	CLASH	23622248
MIRT035924	hsa-miR-1180-3p	CLASH	23622248
MIRT1415060	hsa-miR-1279	CLIP-seq
MIRT1415061	hsa-miR-3673	CLIP-seq
MIRT1415062	hsa-miR-4699-3p	CLIP-seq
MIRT1415063	hsa-miR-4724-5p	CLIP-seq
MIRT2124536	hsa-miR-144	CLIP-seq
MIRT2346779	hsa-miR-103b	CLIP-seq
MIRT2346780	hsa-miR-1184	CLIP-seq
MIRT2346781	hsa-miR-122	CLIP-seq
MIRT2346782	hsa-miR-1245	CLIP-seq
MIRT2346783	hsa-miR-1976	CLIP-seq
MIRT2346784	hsa-miR-21	CLIP-seq
MIRT2346785	hsa-miR-217	CLIP-seq
MIRT2346786	hsa-miR-3135b	CLIP-seq
MIRT2346787	hsa-miR-3622b-5p	CLIP-seq
MIRT2346788	hsa-miR-3652	CLIP-seq
MIRT2346789	hsa-miR-3664-5p	CLIP-seq
MIRT2346790	hsa-miR-4418	CLIP-seq
MIRT2346791	hsa-miR-4430	CLIP-seq
MIRT2346792	hsa-miR-4447	CLIP-seq
MIRT2346793	hsa-miR-4472	CLIP-seq
MIRT2346794	hsa-miR-4639-3p	CLIP-seq
MIRT2346795	hsa-miR-4722-3p	CLIP-seq
MIRT2346796	hsa-miR-4740-3p	CLIP-seq
MIRT2346797	hsa-miR-509-3-5p	CLIP-seq
MIRT2346798	hsa-miR-509-5p	CLIP-seq
MIRT2346799	hsa-miR-590-5p	CLIP-seq
MIRT2124536	hsa-miR-144	CLIP-seq
MIRT2395563	hsa-miR-1292	CLIP-seq
MIRT2395564	hsa-miR-4471	CLIP-seq
MIRT2395565	hsa-miR-4646-5p	CLIP-seq
MIRT2395566	hsa-miR-661	CLIP-seq
MIRT2346781	hsa-miR-122	CLIP-seq
MIRT2346786	hsa-miR-3135b	CLIP-seq
MIRT2346788	hsa-miR-3652	CLIP-seq
MIRT2346789	hsa-miR-3664-5p	CLIP-seq
MIRT2346791	hsa-miR-4430	CLIP-seq
MIRT2346792	hsa-miR-4447	CLIP-seq
MIRT2346793	hsa-miR-4472	CLIP-seq
MIRT2346794	hsa-miR-4639-3p	CLIP-seq
MIRT2346779	hsa-miR-103b	CLIP-seq
MIRT2346781	hsa-miR-122	CLIP-seq
MIRT2639410	hsa-miR-15a	CLIP-seq
MIRT2639411	hsa-miR-15b	CLIP-seq
MIRT2639412	hsa-miR-16	CLIP-seq
MIRT2639413	hsa-miR-195	CLIP-seq
MIRT2346784	hsa-miR-21	CLIP-seq
MIRT2346786	hsa-miR-3135b	CLIP-seq
MIRT2639414	hsa-miR-331-3p	CLIP-seq
MIRT2346787	hsa-miR-3622b-5p	CLIP-seq
MIRT2346788	hsa-miR-3652	CLIP-seq
MIRT2639415	hsa-miR-424	CLIP-seq
MIRT2346791	hsa-miR-4430	CLIP-seq
MIRT2346795	hsa-miR-4722-3p	CLIP-seq
MIRT2639416	hsa-miR-497	CLIP-seq
MIRT2346799	hsa-miR-590-5p	CLIP-seq
MIRT2346779	hsa-miR-103b	CLIP-seq
MIRT2346781	hsa-miR-122	CLIP-seq
MIRT2639410	hsa-miR-15a	CLIP-seq
MIRT2639411	hsa-miR-15b	CLIP-seq
MIRT2639412	hsa-miR-16	CLIP-seq
MIRT2639413	hsa-miR-195	CLIP-seq
MIRT2346784	hsa-miR-21	CLIP-seq
MIRT2346786	hsa-miR-3135b	CLIP-seq
MIRT2639414	hsa-miR-331-3p	CLIP-seq
MIRT2346787	hsa-miR-3622b-5p	CLIP-seq
MIRT2346788	hsa-miR-3652	CLIP-seq
MIRT2639415	hsa-miR-424	CLIP-seq
MIRT2346791	hsa-miR-4430	CLIP-seq
MIRT2346795	hsa-miR-4722-3p	CLIP-seq
MIRT2639416	hsa-miR-497	CLIP-seq
MIRT2346799	hsa-miR-590-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001525	Process	Angiogenesis	ISS
GO:0001568	Process	Blood vessel development	ISS
GO:0001708	Process	Cell fate specification	IBA
GO:0001708	Process	Cell fate specification	ISS
GO:0001755	Process	Neural crest cell migration	ISS
GO:0001934	Process	Positive regulation of protein phosphorylation	ISS
GO:0001945	Process	Lymph vessel development	ISS
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	ISS
GO:0003007	Process	Heart morphogenesis	ISS
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003677	Function	DNA binding	IDA	17273972
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	11111039
GO:0005515	Function	Protein binding	IPI	30241482, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	9268629
GO:0007368	Process	Determination of left/right symmetry	ISS
GO:0007389	Process	Pattern specification process	ISS
GO:0007498	Process	Mesoderm development	ISS
GO:0007507	Process	Heart development	IMP	14585638
GO:0007517	Process	Muscle organ development	ISS
GO:0007605	Process	Sensory perception of sound	ISS
GO:0008283	Process	Cell population proliferation	ISS
GO:0008284	Process	Positive regulation of cell population proliferation	ISS
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009952	Process	Anterior/posterior pattern specification	ISS
GO:0021644	Process	Vagus nerve morphogenesis	ISS
GO:0030855	Process	Epithelial cell differentiation	ISS
GO:0030878	Process	Thyroid gland development	ISS
GO:0035019	Process	Somatic stem cell population maintenance	ISS
GO:0035176	Process	Social behavior	ISS
GO:0035909	Process	Aorta morphogenesis	ISS
GO:0042471	Process	Ear morphogenesis	ISS
GO:0042472	Process	Inner ear morphogenesis	ISS
GO:0042473	Process	Outer ear morphogenesis	ISS
GO:0042474	Process	Middle ear morphogenesis	ISS
GO:0042475	Process	Odontogenesis of dentin-containing tooth	ISS
GO:0042693	Process	Muscle cell fate commitment	ISS
GO:0042803	Function	Protein homodimerization activity	IDA	11111039, 22095455
GO:0043410	Process	Positive regulation of MAPK cascade	ISS
GO:0043565	Function	Sequence-specific DNA binding	IDA	11111039, 22095455
GO:0043587	Process	Tongue morphogenesis	ISS
GO:0044344	Process	Cellular response to fibroblast growth factor stimulus	ISS
GO:0045596	Process	Negative regulation of cell differentiation	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	17273972
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046983	Function	Protein dimerization activity	TAS	17273972
GO:0048384	Process	Retinoic acid receptor signaling pathway	ISS
GO:0048514	Process	Blood vessel morphogenesis	ISS
GO:0048538	Process	Thymus development	IMP	14585638
GO:0048644	Process	Muscle organ morphogenesis	ISS
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	ISS
GO:0048703	Process	Embryonic viscerocranium morphogenesis	IMP	14585638
GO:0048752	Process	Semicircular canal morphogenesis	ISS
GO:0048844	Process	Artery morphogenesis	ISS
GO:0050679	Process	Positive regulation of epithelial cell proliferation	ISS
GO:0060017	Process	Parathyroid gland development	IMP	14585638
GO:0060023	Process	Soft palate development	IMP	14585638
GO:0060037	Process	Pharyngeal system development	IMP	14585638
GO:0060325	Process	Face morphogenesis	ISS
GO:0060415	Process	Muscle tissue morphogenesis	ISS
GO:0060982	Process	Coronary artery morphogenesis	ISS
GO:0070166	Process	Enamel mineralization	ISS
GO:0071300	Process	Cellular response to retinoic acid	ISS
GO:0090103	Process	Cochlea morphogenesis	ISS
GO:0097152	Process	Mesenchymal cell apoptotic process	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000027	Process	Regulation of animal organ morphogenesis	ISS
GO:2001037	Process	Positive regulation of tongue muscle cell differentiation	ISS
GO:2001054	Process	Negative regulation of mesenchymal cell apoptotic process	ISS

Other IDs

• MIM: 602054
• HGNC: 11592
• e!Ensembl: ENSG00000184058

Protein

• UniProt ID: O43435
• Protein name: T-box transcription factor TBX1 (T-box protein 1) (Testis-specific T-box protein)
• Protein function: Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development (By similarity). Also involved in craniofacial muscle development (By similarity). Together with NKX2
• PDB: 4A04
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00907	T-box	112 → 297	T-box	Domain

• Sequence:

  MHFSTVTRDMEAFTASSLSSLGAAGGFPGAASPGADPYGPREPPPPPPRYDPCAAAAPGA
  PGPPPPPHAYPFAPAAGAATSAAAEPEGPGASCAAAAKAPVKKNAKVAGVSVQLEMKALW
  DEFNQLGTEMIVTKAGRRMFPTFQVKLFGMDPMADYMLLMDFVPVDDKRYRYAFHSSSWL
  VAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFDKLKLTNNLLDDNGHIILNSMHRYQPR
  FHVVYVDPRKDSEKYAEENFKTFVFEETRFTAVTAYQNHRITQLKIASNPFAKGFRDCDP
  EDWPRNHRPGALPLMSAFARSRNPVASPTQPSGTEKGGHVLKDKEVKAETSRNTPEREVE
  LLRDAGGCVNLGLPCPAECQPFNTQGLVAGRTAGDRLC

• Sequence length: 398

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Conotruncal anomaly face syndrome	Pathogenic	rs28939675, rs1601294362	RCV001815165 RCV001815166
DiGeorge syndrome	Pathogenic; Likely pathogenic	rs1936852915, rs2145838229, rs2145835194, rs1936845711, rs2145827929, rs1731409120, rs2145827917, rs2145836457, rs2517841942, rs1321457390, rs2517843174, rs2474263656, rs2517855397, rs2517855328, rs776268518, rs2517842289, rs1601280018, rs1252544416, rs1555895466, rs1936640897, rs1936634853, rs1936727304	RCV001332793 RCV001383639 RCV001908785 RCV001992593 RCV001866498 RCV002000474 RCV001880954 RCV001944034 RCV002722019 RCV003063975 RCV003148069 RCV003507775 RCV003507899 RCV003620608 RCV003621257 RCV003619191 RCV003620404 RCV003620449 RCV004555178 RCV000630482 RCV001220575 RCV001247640 RCV001249619
KBG syndrome	Pathogenic	rs1936760837	RCV001261282
TBX1-related disorder	Likely pathogenic; Pathogenic	rs1731409120, rs2517852372	RCV004782842 RCV003907094
Tetralogy of Fallot	Likely pathogenic	rs2517843174, rs1936727304	RCV003148068 RCV001249619
Velocardiofacial syndrome	Pathogenic; Likely pathogenic	rs2145827917, rs2517858941, rs74315522, rs2517843174, rs1252544416, rs1936727304	RCV003234130 RCV000008002 RCV000008003 RCV003148070 RCV004555178 RCV001249619

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cardiovascular phenotype	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	rs748232668, rs747623105, rs1936642852, rs746384751, rs1243986502, rs548714133, rs1010293843, rs753192876, rs770702512, rs146109202, rs755047093, rs367657296, rs761327170, rs1398031445, rs1936644941, rs1182771166, rs770781746, rs754705790, rs752498057, rs777103863, rs1936844604, rs747565599, rs375380772, rs1358757635, rs2145832239, rs749558577, rs1270901790, rs1177085596, rs965143242, rs1191464098, rs953761540, rs745369694, rs1046003511, rs1936641756, rs2145838985, rs2145838410, rs1422322991, rs1201666534, rs1228513970, rs1168835856, rs748434309, rs1381402015, rs1482857023, rs892270450, rs1936784892, rs1266161483, rs763559631, rs1191392752, rs1378203817, rs777313046, rs775895785, rs775502763, rs750574356, rs546513284, rs2517841475, rs1936853387, rs769434775, rs773592877, rs1341782849, rs1390945862, rs1462448271, rs748995341, rs1282566456, rs1211607816, rs2517841304, rs2517841330, rs773832715, rs1936857754, rs2517849836, rs780344405, rs1294927055, rs2517841324, rs2517841336, rs768991190, rs1936638155, rs1203640346, rs767140968, rs375727246, rs74315522, rs746993005, rs1313958501, rs72646952, rs144848597, rs763843987, rs1462014578, rs752278002, rs1480686940, rs2517858803, rs2517841399, rs1335862067, rs2517854929, rs569976109, rs1936635936, rs2517858823, rs1936637225, rs2517852161, rs745951558, rs1303578943, rs892172437, rs2517841572, rs962345052, rs1402958553, rs2517859781, rs965925805, rs2517857389, rs764610884, rs1936865691, rs778718533, rs2517859631, rs748075946, rs2517859643, rs972389680, rs926713371, rs2517842097, rs1936642042, rs1300015337, rs755937050, rs757452865, rs754795532, rs1936845811, rs1936877224, rs1180344550, rs892361291, rs975164324, rs2517859005, rs1936868603, rs1331104618, rs1868552902, rs1936641158, rs2145827999, rs1383720808, rs1254269207, rs1936642132, rs1936643376, rs2517842255, rs2517842297, rs2517857664, rs2145824618, rs2517842179, rs2517842235, rs1230853327, rs1459372840, rs1478778776, rs2517837859, rs2517857735, rs1936643083, rs1936637685, rs2517857617, rs2517842342, rs1419732774, rs1601283257, rs2517857784, rs2517842555, rs2145828368, rs1274480565, rs1725365795, rs2517842638, rs1661779898, rs143602782, rs72646953, rs1268727769, rs1009463279, rs778071107, rs2517842062, rs1936645860, rs1421804686, rs72646968, rs1936858411, rs1936846181, rs2517859326, rs769163028, rs1955908101, rs150320937, rs1439655563, rs1333920751, rs553461195, rs763530229, rs1937112059, rs1049166128, rs369898376, rs41298838, rs2517857604, rs1254516864, rs1225342364, rs1601294272, rs1671253647, rs2517841736, rs754416536, rs2517841974, rs2517858710, rs2517857491, rs2517842284, rs931429492, rs1434240699, rs2517842818, rs780978730, rs760098496, rs1936826061, rs1359225612, rs13054377, rs41298814, rs2301558, rs886038791, rs72646967, rs41298840, rs759225333, rs1936785926, rs1461099560, rs1368514122, rs2517843076, rs2517859198, rs1936759282, rs772944750, rs777213879, rs1405239508, rs753894833, rs1436197481, rs1458962515, rs764852265, rs1936643740, rs111605258, rs2517842207, rs1289825564, rs2517858871, rs1936864924, rs2517841853, rs2517841881, rs2517841956, rs1228619238, rs2517857937, rs950249836, rs2517858728, rs751755076, rs2517842069, rs2517850047, rs2517851946, rs2145835334, rs755692915, rs1406770776, rs1057523372, rs61730282, rs41298786, rs766608075, rs780800634, rs753613632, rs751339103, rs369050575, rs139776757, rs756543718, rs774489872, rs1028072654, rs111754814, rs1555895391, rs952890575, rs138724943, rs141186024, rs200021644, rs201607803, rs549715785, rs781731042, rs1555896709, rs565927787, rs367711718, rs746335599, rs941116789, rs541198585, rs762076391, rs757290764, rs779173153, rs1157536437, rs148928907, rs41298816, rs149453540, rs200135498, rs774578030, rs764497467, rs770754649, rs761495882, rs1288296547, rs1305509653, rs574947516, rs772860144, rs1310802135, rs541899328, rs538317719, rs1228904807, rs1337949186, rs201412495, rs757648761, rs754390970, rs745858331, rs201993443, rs775295536, rs776268518, rs764197422, rs1464455403, rs1936852709, rs756769832, rs1415687525, rs1177792242, rs746250147, rs1407996016, rs758517884	RCV002357136 RCV002384396 RCV005749800 RCV005749810 RCV002395763 RCV002432020 RCV002420930 RCV005749832 RCV004038167 RCV002377736 RCV002368365 RCV002377751 RCV003160936 RCV002405203 RCV003375330 RCV002421121 RCV005749839 RCV002396166 RCV005749840 RCV002386462 RCV005286495 RCV004039559 RCV004039990 RCV002386511 RCV004040904 RCV004046223 RCV002331564 RCV002386731 RCV003164247 RCV002386887 RCV002440945 RCV004041884 RCV005288554 RCV002406917 RCV003303480 RCV005288700 RCV002400360 RCV005749990 RCV002352897 RCV005493266 RCV005749995 RCV002331675 RCV003161387 RCV003307934 RCV002391357 RCV004044931 RCV002416519 RCV002427590 RCV002427622 RCV002391310 RCV004044967 RCV003308006 RCV004990617 RCV004044991 RCV002434623 RCV002366318 RCV002320970 RCV002348874 RCV002333425 RCV002333636 RCV002320794 RCV002457113 RCV002335371 RCV002338497 RCV002338604 RCV002347562 RCV002347676 RCV002354036 RCV002349416 RCV002353839 RCV002335779 RCV002344870 RCV002355677 RCV002335466 RCV002335500 RCV002342853 RCV002343006 RCV002359710 RCV002359816 RCV002353207 RCV002360139 RCV002394062 RCV002394234 RCV002416889 RCV002416921 RCV002373616 RCV002449786 RCV002450047 RCV002371311 RCV002371424 RCV002370843 RCV002391615 RCV002378831 RCV002378930 RCV002380518 RCV002374143 RCV002374145 RCV002374147 RCV002400678 RCV002371689 RCV002376733 RCV002387148 RCV002383095 RCV002383174 RCV002391819 RCV002391911 RCV002392000 RCV002392200 RCV002407477 RCV002382881 RCV002387549 RCV002389324 RCV002389332 RCV002389347 RCV002389370 RCV002389409 RCV002389412 RCV002397211 RCV002410136 RCV002410328 RCV002385737 RCV002385779 RCV002389069 RCV002389071 RCV002396736 RCV002396830 RCV002397023 RCV002401240 RCV002406291 RCV002407995 RCV002410664 RCV002381001 RCV002383626 RCV002394333 RCV002394556 RCV002406139 RCV002401649 RCV002407652 RCV002414925 RCV002410509 RCV002422095 RCV002422097 RCV002422272 RCV002432719 RCV002459521 RCV002408218 RCV002421498 RCV002419891 RCV002457703 RCV002448077 RCV002459999 RCV002453213 RCV002429060 RCV002417064 RCV002424150 RCV002417976 RCV002425661 RCV002457462 RCV002433076 RCV002437318 RCV002441953 RCV002437588 RCV002439331 RCV002435341 RCV002437658 RCV002437885 RCV002437939 RCV002442072 RCV002442205 RCV005505567 RCV005288893 RCV004071703 RCV005288902 RCV005505582 RCV005281319 RCV004992504 RCV004068986 RCV004244545 RCV004245894 RCV004990795 RCV004681551 RCV004990884 RCV003167871 RCV005288838 RCV004673734 RCV005505530 RCV004990929 RCV005281275 RCV006342667 RCV004104855 RCV004106292 RCV004114427 RCV000618981 RCV004126740 RCV003176685 RCV003176686 RCV003176687 RCV003176688 RCV003176689 RCV003168081 RCV003168082 RCV003176690 RCV003176691 RCV003176692 RCV003208667 RCV004275667 RCV003216408 RCV003216409 RCV003216410 RCV004275873 RCV003294656 RCV000249903 RCV000249855 RCV000254087 RCV000251932 RCV000242757 RCV000245695 RCV000248275 RCV003305422 RCV003296899 RCV003296900 RCV003296901 RCV003379588 RCV003379977 RCV006343050 RCV004676229 RCV005505701 RCV005495585 RCV004673922 RCV004673927 RCV004992697 RCV005505712 RCV005505721 RCV006368464 RCV005752273 RCV004992752 RCV004673962 RCV004673957 RCV005495641 RCV005507762 RCV004474264 RCV004474265 RCV004474266 RCV004474267 RCV004474268 RCV004474269 RCV004474263 RCV004522589 RCV004522590 RCV004522591 RCV004522592 RCV004522593 RCV004522594 RCV004522595 RCV004522596 RCV004522597 RCV004522598 RCV004522599 RCV004522600 RCV004522601 RCV006342270 RCV002418289 RCV002356605 RCV002356767 RCV005749562 RCV002395200 RCV003159655 RCV002323913 RCV004678735 RCV000617164 RCV003159735 RCV004024875 RCV002420586 RCV000620254 RCV000620113 RCV000619375 RCV000618793 RCV000617995 RCV000620346 RCV000618363 RCV000618199 RCV000619076 RCV000618252 RCV000621456 RCV000621315 RCV000620652 RCV000618894 RCV000620329 RCV002325204 RCV002388188 RCV004993981 RCV002386310 RCV002325462 RCV003169015 RCV002422694 RCV005749654 RCV002336753 RCV005502932 RCV002352499 RCV002381909 RCV002399964 RCV002363317 RCV002416067 RCV003307658 RCV002444973 RCV002336851 RCV002382014 RCV002382006 RCV002363469 RCV004029829 RCV002337000 RCV002337003 RCV002382186 RCV002346064 RCV002382047 RCV002354732 RCV004029370 RCV002354776 RCV003307785 RCV005749694 RCV005749710 RCV002365720 RCV002379545 RCV005503032 RCV003294046 RCV003163735 RCV005492975 RCV002357005 RCV005503035 RCV002393661 RCV002402868 RCV002375365
Conotruncal heart malformations	Uncertain significance; Conflicting classifications of pathogenicity; not provided	rs1359119941, rs1937156881, rs1936812731, rs1288296547, rs555522870, rs1936759742, rs376779775, rs373539086, rs1936824289, rs2145839048, rs2145827836, rs2517874435, rs781731042, rs753192876, rs757290764, rs1601282938, rs918788695, rs746812421, rs1192078635, rs144848597, rs367711718, rs1452987245	RCV005023044 RCV001332702 RCV001336873 RCV002488163 RCV002495621 RCV003234086 RCV002479395 RCV002506954 RCV004725338 RCV004725390 RCV004725449 RCV003233246 RCV000765609 RCV002493365 RCV000768330 RCV002487626 RCV002488070 RCV002497283 RCV002265935 RCV002069302 RCV005029795 RCV001281027
Hypoplastic left heart syndrome	Uncertain significance	rs541198585	RCV000678753
Malignant tumor of esophagus	Uncertain significance	rs144848597	RCV005931869
Ovarian serous cystadenocarcinoma	Likely benign	rs45561334	RCV005912922

Associations from Text Mining
Disease Name	Relationship Type	References
16p11.2 Deletion Syndrome	Associate	36553582
22q11 Deletion Syndrome	Inhibit	17028864
Acute Kidney Injury	Associate	27576016
Adenocarcinoma	Stimulate	22611028
Adenoma	Inhibit	28920943
Anhedonia	Associate	17622328, 21796729
Bone Neoplasms	Associate	24232574
Breast Neoplasms	Associate	24815864, 27702820, 28621227, 33734319, 34919666
Camptodactyly 1	Inhibit	28920943
Carcinoma Adenoid Cystic	Associate	24504414, 30453543
Carcinoma Embryonal	Stimulate	39929118
Carcinoma Non Small Cell Lung	Associate	25683840
Carcinoma Renal Cell	Associate	21102418
Carcinoma Small Cell	Associate	26099010
Carcinoma Squamous Cell	Associate	22611028
Cardiovascular Abnormalities	Associate	23828768, 24637876
Chondrosarcoma	Associate	18820665
Chordoma	Associate	18641983, 18820665, 19801981, 20670140, 21102418, 21602918, 23814489, 24086644, 24232574, 24445144, 24452533, 26099010, 26099340, 26339396, 27172898, 27663388, 28094431, 28515451, 28835717, 29026114, 29360338, 30664779, 33521702, 34465320, 36219611, 36804377, 37024492, 39929118
Chromosome 22q11.2 Microduplication Syndrome	Associate	36722223
Cleft Lip	Associate	19137569
Cleft Palate	Associate	23034814
Colorectal Neoplasms	Associate	25003467, 26862851
Congenital Microtia	Associate	37107637
Conotruncal cardiac defects	Associate	22185286, 23828768, 36789878
Deafness	Associate	23661601
DiGeorge Syndrome	Associate	17273972, 19645056, 20551144, 21796729, 22185286, 23034814, 24637876, 25981510, 27345603, 28272434, 28920943, 29851532, 31433868, 31830774, 35035663
DiGeorge Syndrome	Inhibit	33707356
DNA Repair Deficiency Disorders	Associate	23661601
Double Outlet Right Ventricle	Associate	34204335
Endodermal Sinus Tumor	Associate	39929118
Glioblastoma	Associate	37373295
Glioma	Inhibit	32785847
Goldenhar Syndrome	Associate	27345603
Graves Disease	Stimulate	1983329
Hashimoto Disease	Stimulate	17459075
Heart Defects Congenital	Associate	19948535, 22318994, 25981510, 33707356, 35035663, 36205932
Hodgkin Disease	Associate	34807923
Hypocalcemia	Associate	24637876
Hypoparathyroidism	Associate	24637876, 28920943, 30137364, 31433868
Hypothyroidism	Associate	1983329
Inflammation	Inhibit	31286562
Insulin Resistance	Associate	37898813
Laryngeal Neoplasms	Associate	32469167
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	38203204
Leukemia Myeloid	Associate	38203204
Light Fixation Seizure Syndrome	Associate	24504414
Lung Neoplasms	Associate	20071775, 22611028, 25683840, 25744730, 27893433
Lymphatic Metastasis	Associate	23076115, 25683840
Melanoma	Associate	23661601
Mouth Neoplasms	Associate	30453543
Myopathies Structural Congenital	Associate	27345603
Neoplasm Metastasis	Associate	20071775, 22611028, 23076115, 25003467, 25683840, 25744730, 27580659, 33762322, 34465320
Neoplasm Metastasis	Stimulate	24815864, 29749711, 34919666
Neoplasms	Associate	17298169, 20071775, 21102418, 21653678, 22611028, 23783250, 24086644, 24305715, 24504414, 24815864, 25003467, 25287138, 25744730, 26099010, 26862729, 26862851, 27580659, 28855356, 29749711, 34465320, 34717660, 37373295, 39929118
Neoplasms	Inhibit	28920943, 33557670
Neoplasms	Stimulate	34919666
Neuroblastoma	Associate	36130928
Obesity	Stimulate	26273678
Orofacial Cleft 1	Associate	23524414, 28603561
Parathyroid Neoplasms	Associate	28920943
Periodontitis	Associate	34101221
Prieto X linked mental retardation syndrome	Associate	23828768
Prostate Cancer Hereditary 7	Associate	27049720
Prostatic Neoplasms	Associate	27049720
Prostatic Neoplasms Castration Resistant	Stimulate	33762322
Seminoma	Stimulate	26099010
Seminoma	Associate	39929118
Simpson Golabi Behmel syndrome	Associate	30967578
Skull Base Neoplasms	Associate	18820665, 26099340
Small Cell Lung Carcinoma	Stimulate	26099010
Spinal Dysraphism	Associate	21204206, 23913553
Spondylocostal dysostosis autosomal recessive	Associate	18466071
Squamous Cell Carcinoma of Head and Neck	Associate	23076115
Teratoma	Associate	39929118
Tertiary Lymphoid Structures	Associate	23076115
Testicular Germ Cell Tumor	Associate	29749711
Tetralogy of Fallot	Associate	19948535, 20937753, 25093829, 25981510, 30582441, 30766556, 31869684
Thymus Neoplasms	Associate	24637876
Triple Negative Breast Neoplasms	Associate	27580659
Urinary Bladder Neoplasms	Associate	32579540
Uterine Cervical Neoplasms	Inhibit	33557670