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G |
Agt |
angiotensinogen |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17502491 |
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NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8757037 |
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NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Edn2 |
endothelin 2 |
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ISO |
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RGD |
PMID:11947982 |
RGD:1580915 |
NCBI chr 5:133,751,316...133,756,814
Ensembl chr 5:133,751,217...133,756,814
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G |
Mmp1 |
matrix metallopeptidase 1 |
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ISO |
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RGD |
PMID:15561045 |
RGD:1582530 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Smad3 |
SMAD family member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21217753 |
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NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22772368 |
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NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16027248 PMID:16885183 |
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NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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G |
Ldlr |
low density lipoprotein receptor |
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ISO |
ClinVar Annotator: match by term: Internal carotid artery dissection |
ClinVar |
PMID:1301956 PMID:2088165 PMID:2318961 PMID:3263645 PMID:8882879 PMID:9157944 PMID:9484998 PMID:10782930 PMID:10978268 PMID:12837857 PMID:16183066 PMID:16250003 PMID:17094996 PMID:17765246 PMID:18677035 PMID:19318025 PMID:20506408 PMID:21310417 PMID:21475731 PMID:21722902 PMID:22390909 PMID:22698793 PMID:23375686 PMID:24033266 PMID:25741868 PMID:27765764 PMID:28492532 PMID:29261184 PMID:29399563 PMID:31345425 PMID:34906454 More...
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NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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G |
Mylk |
myosin light chain kinase |
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ISO |
ClinVar Annotator: match by term: Internal carotid artery dissection |
ClinVar |
PMID:25326637 PMID:25741868 PMID:28492532 PMID:30755392 |
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NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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G |
Col3a1 |
collagen type III alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
PMID:2049575 PMID:21086191 PMID:24033266 PMID:25637381 PMID:25741868 PMID:25758994 PMID:25846194 PMID:27011056 PMID:27964749 PMID:28492532 PMID:28748566 PMID:30374176 More...
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NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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G |
Col5a1 |
collagen type V alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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G |
Col5a2 |
collagen type V alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
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NCBI chr 9:47,448,741...47,598,134
Ensembl chr 9:47,448,736...47,598,154
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G |
Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
PMID:1729284 PMID:7611299 PMID:8880577 PMID:8882780 PMID:10766875 PMID:11175294 PMID:16596670 PMID:17324963 PMID:21784848 PMID:24199744 PMID:26796135 PMID:27914124 PMID:28492532 More...
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Fbn2 |
fibrillin 2 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
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G |
Myh11 |
myosin heavy chain 11 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
PMID:7923625 PMID:10199307 PMID:10854329 PMID:14722581 PMID:16444274 PMID:17666408 PMID:17956658 PMID:20734336 PMID:22511748 PMID:22968129 PMID:24033266 PMID:24337657 PMID:24676022 PMID:25407000 PMID:25424711 PMID:25433566 PMID:25741868 PMID:26017485 PMID:26332594 PMID:26792327 PMID:27418595 PMID:27879251 PMID:28492532 PMID:29494672 PMID:29961567 More...
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NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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G |
Mylk |
myosin light chain kinase |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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G |
Smad3 |
SMAD family member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21217753 PMID:21778426 PMID:22772368 PMID:24033266 PMID:24711937 PMID:24804794 PMID:25644172 PMID:25741868 PMID:28492532 PMID:29392890 PMID:30661052 PMID:30787465 PMID:31085000 PMID:31915033 More...
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NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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G |
Tgfb2 |
transforming growth factor, beta 2 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome |
CTD ClinVar MouseDO |
PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 PMID:9536098 PMID:9599222 PMID:10611753 PMID:16199547 PMID:17576681 PMID:22772368 PMID:22772371 PMID:23102774 PMID:24465802 PMID:24577266 PMID:25644172 PMID:25741868 PMID:26017485 PMID:26854089 PMID:28139901 PMID:28492532 PMID:28550590 PMID:28633253 PMID:28655553 PMID:29392890 PMID:29510914 PMID:29543232 PMID:29907982 PMID:30071990 PMID:30739908 PMID:31191903 PMID:31915033 PMID:32307099 PMID:35205249 More...
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NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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G |
Tgfb3 |
transforming growth factor, beta 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome |
CTD ClinVar |
PMID:28492532 |
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NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
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G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A |
CTD ClinVar MouseDO |
PMID:2511639 PMID:2647812 PMID:15731757 PMID:16596670 PMID:16791849 PMID:16799921 PMID:16928994 PMID:17652900 PMID:18455604 PMID:18781618 PMID:19542084 PMID:19561605 PMID:19839986 PMID:20332227 PMID:20358619 PMID:21267002 PMID:21358634 PMID:22113417 PMID:22414221 PMID:22772368 PMID:23064905 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24793577 PMID:24931266 PMID:25110237 PMID:25116393 PMID:25326635 PMID:25326637 PMID:25521989 PMID:25589165 PMID:25637381 PMID:25715477 PMID:25741868 PMID:25834947 PMID:25907466 PMID:25944730 PMID:25985138 PMID:26848186 PMID:26877057 PMID:27125181 PMID:27146836 PMID:27153395 PMID:27611364 PMID:27879313 PMID:28152038 PMID:28209770 PMID:28492532 PMID:28550590 PMID:28655553 PMID:29192238 PMID:29706644 PMID:29907982 PMID:30219046 PMID:30701076 PMID:30739908 PMID:31624717 PMID:31915033 PMID:32339686 PMID:33436942 PMID:33824467 PMID:36237225 More...
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NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A |
CTD ClinVar MouseDO |
PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 PMID:9927040 PMID:11212236 PMID:12202987 PMID:12825850 PMID:15235604 PMID:15731757 PMID:16249459 PMID:16251899 PMID:16283890 PMID:16791849 PMID:16799921 PMID:16835936 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17330129 PMID:17344846 PMID:17345643 PMID:17470566 PMID:17576681 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18781618 PMID:18852674 PMID:19006214 PMID:19875893 PMID:19996017 PMID:20144264 PMID:20358619 PMID:20628007 PMID:20956634 PMID:21098638 PMID:21251594 PMID:21267002 PMID:21270064 PMID:21484991 PMID:21524434 PMID:22095581 PMID:22113417 PMID:22259224 PMID:22488992 PMID:22772368 PMID:22772377 PMID:23103230 PMID:23228659 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24146167 PMID:24220024 PMID:24792536 PMID:24793577 PMID:24941995 PMID:25116393 PMID:25203624 PMID:25637381 PMID:25741868 PMID:26017485 PMID:26133393 PMID:26948038 PMID:27100340 PMID:27139629 PMID:27146836 PMID:27508510 PMID:27611364 PMID:27879313 PMID:27930701 PMID:28182693 PMID:28225382 PMID:28344185 PMID:28492532 PMID:28659821 PMID:28991257 PMID:29168297 PMID:29543232 PMID:29907982 PMID:30158670 PMID:30739908 PMID:32152251 PMID:32560555 PMID:32887874 More...
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NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 |
ClinVar OMIM |
PMID:2511639 PMID:2647812 PMID:15731757 PMID:16596670 PMID:16791849 PMID:16799921 PMID:16928994 PMID:17652900 PMID:18070134 PMID:18455604 PMID:18781618 PMID:18852674 PMID:19542084 PMID:19561605 PMID:19839986 PMID:20332227 PMID:21267002 PMID:21358634 PMID:22113417 PMID:22414221 PMID:23064905 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24793577 PMID:24931266 PMID:25110237 PMID:25116393 PMID:25326635 PMID:25521989 PMID:25589165 PMID:25637381 PMID:25715477 PMID:25741868 PMID:25834947 PMID:25907466 PMID:25944730 PMID:25985138 PMID:26848186 PMID:26877057 PMID:27125181 PMID:27146836 PMID:27153395 PMID:27611364 PMID:27879313 PMID:28209770 PMID:28492532 PMID:28550590 PMID:28655553 PMID:29192238 PMID:29706644 PMID:29907982 PMID:30219046 PMID:30701076 PMID:30739908 PMID:31915033 PMID:32339686 PMID:33436942 PMID:33824467 PMID:34270679 PMID:36237225 More...
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NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 |
ClinVar |
PMID:16251899 PMID:16928994 PMID:18781618 PMID:18852674 PMID:19006214 PMID:21484991 PMID:22095581 PMID:22113417 PMID:22259224 PMID:23884466 PMID:24792536 PMID:25637381 PMID:25741868 PMID:28492532 PMID:30739908 PMID:32152251 More...
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NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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G |
Fbn1 |
fibrillin 1 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
ClinVar |
PMID:845663 PMID:1301946 PMID:1569206 PMID:2005308 PMID:3495735 PMID:4750422 PMID:7611299 PMID:7951214 PMID:7977366 PMID:8004112 PMID:8406497 PMID:8541880 PMID:8791520 PMID:8894692 PMID:8941093 PMID:9241263 PMID:9338581 PMID:9399842 PMID:9401003 PMID:9452033 PMID:9477945 PMID:9536098 PMID:9837823 PMID:10441597 PMID:10464652 PMID:10486319 PMID:10533071 PMID:10612827 PMID:10647894 PMID:10756346 PMID:10874320 PMID:10942427 PMID:11068200 PMID:11108952 PMID:11137998 PMID:11139245 PMID:11143906 PMID:11170092 PMID:11175294 PMID:11251996 PMID:11524736 PMID:11700157 PMID:11702223 PMID:11722462 PMID:11748851 PMID:11826022 PMID:11875032 PMID:11880731 PMID:11933199 PMID:11967553 PMID:12068374 PMID:12161601 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12700307 PMID:12938084 PMID:14695540 PMID:15032979 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15583982 PMID:15733436 PMID:15880509 PMID:16199547 PMID:16220557 PMID:16222657 PMID:16342915 PMID:16476890 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16835936 PMID:16905551 PMID:16971892 PMID:16995940 PMID:17224687 PMID:17253931 PMID:17418587 PMID:17503327 PMID:17576681 PMID:17618372 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17680538 PMID:17701892 PMID:17884807 PMID:18079676 PMID:18087243 PMID:18435798 PMID:18471089 PMID:18615205 PMID:19002209 PMID:19012347 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19349279 PMID:19446531 PMID:19533785 PMID:19561590 PMID:19618372 PMID:19659760 PMID:19720936 PMID:19780835 PMID:19802897 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20082464 PMID:20132243 PMID:20200614 PMID:20301510 PMID:20564469 PMID:20591885 PMID:20886638 PMID:21034599 PMID:21135753 PMID:21332468 PMID:21542060 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22262941 PMID:22393277 PMID:22539873 PMID:22772377 PMID:22913777 PMID:23278365 PMID:23684891 PMID:23719250 PMID:23744319 PMID:23794388 PMID:24033266 PMID:24161884 PMID:24199744 PMID:24220124 PMID:24296667 PMID:24635535 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25525159 PMID:25644172 PMID:25652356 PMID:25656438 PMID:25741868 PMID:25907466 PMID:25944730 PMID:26133393 PMID:26272055 PMID:26333736 PMID:26410935 PMID:26621581 PMID:26770496 PMID:26787436 PMID:26899731 PMID:27112580 PMID:27146836 PMID:27175573 PMID:27229674 PMID:27234404 PMID:27274304 PMID:27353645 PMID:27582083 PMID:27611364 PMID:27724990 PMID:27906200 PMID:28117189 PMID:28391405 PMID:28468757 PMID:28492532 PMID:28539832 PMID:28642162 PMID:28650953 PMID:28855619 PMID:28941062 PMID:28973303 PMID:29357934 PMID:29543232 PMID:29768367 PMID:29848614 PMID:29875124 PMID:29907982 PMID:30192042 PMID:30341550 PMID:30371227 PMID:30675029 PMID:30739908 PMID:30838813 PMID:31098894 PMID:31211624 PMID:31211626 PMID:31227806 PMID:31279624 PMID:31536524 PMID:31730815 PMID:31751304 PMID:31825148 PMID:31830381 PMID:31950671 PMID:32679894 PMID:32989268 PMID:33174221 PMID:33200202 PMID:33394117 PMID:33483584 PMID:33711475 PMID:33824467 PMID:33844962 PMID:34140103 PMID:34150014 PMID:34281902 PMID:34318135 PMID:34456093 PMID:34498425 PMID:34550612 PMID:35058154 PMID:35237611 PMID:37684520 More...
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8246946 PMID:8317497 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 PMID:9927040 PMID:11212236 PMID:12202987 PMID:12821554 PMID:12825850 PMID:15235604 PMID:15731757 PMID:16027248 PMID:16249459 PMID:16251899 PMID:16283890 PMID:16333834 PMID:16791849 PMID:16799921 PMID:16835936 PMID:16885183 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17330129 PMID:17344846 PMID:17345643 PMID:17418587 PMID:17470566 PMID:17576681 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18781618 PMID:18827873 PMID:18852674 PMID:19006214 PMID:19159394 PMID:19533785 PMID:19542084 PMID:19816028 PMID:19875893 PMID:19996017 PMID:20144264 PMID:20358619 PMID:20628007 PMID:20829218 PMID:20956634 PMID:21098638 PMID:21267002 PMID:21270064 PMID:21324918 PMID:21484991 PMID:21524434 PMID:22095581 PMID:22113417 PMID:22259224 PMID:22488992 PMID:22772368 PMID:23103230 PMID:23228659 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24199744 PMID:24220024 PMID:24792536 PMID:24793577 PMID:24941995 PMID:24983314 PMID:25116393 PMID:25203624 PMID:25326635 PMID:25326637 PMID:25637381 PMID:25644172 PMID:25741868 PMID:25786579 PMID:25944730 PMID:26017485 PMID:26133393 PMID:26848186 PMID:26877057 PMID:27100340 PMID:27112580 PMID:27139629 PMID:27508510 PMID:27611364 PMID:27879313 PMID:27930701 PMID:28182693 PMID:28225382 PMID:28344185 PMID:28492532 PMID:28659821 PMID:28679693 PMID:28991257 PMID:29168297 PMID:29339704 PMID:29543232 PMID:29907982 PMID:30056620 PMID:30158670 PMID:30341550 PMID:30675401 PMID:30701076 PMID:31098894 PMID:31769227 PMID:31915033 PMID:32420711 PMID:32528524 PMID:32897753 PMID:33083483 PMID:33391346 PMID:33726816 PMID:33824467 PMID:34008892 PMID:34958866 PMID:35535697 PMID:35727495 More...
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NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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G |
Tmpo |
thymopoietin |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
ClinVar |
PMID:9536098 PMID:16247757 PMID:17576681 PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 PMID:25741868 PMID:27662471 PMID:28074886 PMID:28166811 PMID:28492532 PMID:28798025 PMID:29247119 PMID:30327538 PMID:30975432 PMID:31983221 More...
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NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
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G |
Smad3 |
SMAD family member 3 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C |
OMIM ClinVar |
PMID:246998 PMID:576587 PMID:658878 PMID:15350224 PMID:16828225 PMID:17725494 PMID:21217753 PMID:21778426 PMID:21815248 PMID:21835029 PMID:22167769 PMID:23554019 PMID:24033266 PMID:24711937 PMID:24804794 PMID:25555948 PMID:25644172 PMID:25741868 PMID:25877775 PMID:25944730 PMID:27724990 PMID:28185953 PMID:28492532 PMID:29392890 PMID:29510914 PMID:29543232 PMID:29717556 PMID:29907982 PMID:30661052 PMID:30739908 PMID:30787465 PMID:31085000 PMID:31329162 PMID:31915033 PMID:32154675 PMID:33059708 PMID:33125268 PMID:36495030 More...
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NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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Smad6 |
SMAD family member 6 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 |
ClinVar |
PMID:28492532 PMID:30796334 |
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NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
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Aida |
axin interactor, dorsalization associated |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:94,940,311...94,967,920
Ensembl chr13:94,939,741...94,967,920
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Bpnt1 |
3'(2'), 5'-bisphosphate nucleotidase 1 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:96,865,634...96,893,506
Ensembl chr13:96,868,580...96,893,503
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Brox |
BRO1 domain and CAAX motif containing |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:94,920,107...94,940,189
Ensembl chr13:94,920,112...94,940,227
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C13h1orf115 |
similar to human chromosome 1 open reading frame 115 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:96,422,308...96,432,044
Ensembl chr13:96,422,302...96,432,068
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Disp1 |
dispatched RND transporter family member 1 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:94,720,928...94,866,695
Ensembl chr13:94,720,928...94,866,702
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Dusp10 |
dual specificity phosphatase 10 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:95,613,716...95,651,716
Ensembl chr13:95,614,292...95,651,716
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G |
Eprs1 |
glutamyl-prolyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966
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Esrrg |
estrogen-related receptor gamma |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:99,167,656...99,788,016
Ensembl chr13:99,564,669...99,783,397
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Fam177b |
family with sequence similarity 177 member B |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:94,904,128...94,909,688
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Gpatch2 |
G patch domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:98,784,993...98,925,696
Ensembl chr13:98,784,969...98,925,661
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Hhipl2 |
HHIP like 2 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:95,054,685...95,074,609
Ensembl chr13:95,054,694...95,074,608
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Hlx |
H2.0-like homeobox |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:96,280,335...96,285,750
Ensembl chr13:96,280,339...96,285,750
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Iars2 |
isoleucyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:96,831,484...96,865,518
Ensembl chr13:96,831,484...96,865,501
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Kcnk2 |
potassium two pore domain channel subfamily K member 2 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:100,766,101...100,963,435
Ensembl chr13:100,766,113...100,963,435
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Kctd3 |
potassium channel tetramerization domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:100,510,193...100,548,765
Ensembl chr13:100,510,195...100,548,718
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Lyplal1 |
lysophospholipase-like 1 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:97,626,568...97,657,901
Ensembl chr13:97,626,451...97,657,867
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Mark1 |
microtubule affinity regulating kinase 1 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:96,450,189...96,555,304
Ensembl chr13:96,451,487...96,555,173
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Mia3 |
MIA SH3 domain ER export factor 3 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:94,970,421...95,012,071
Ensembl chr13:94,970,424...95,011,972
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Mir194-1 |
microRNA 194-1 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:96,851,166...96,851,248
Ensembl chr13:96,851,166...96,851,248
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Mtarc1 |
mitochondrial amidoxime reducing component 1 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:96,324,377...96,362,677
Ensembl chr13:96,339,757...96,397,796
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Mtarc2 |
mitochondrial amidoxime reducing component 2 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:96,362,810...96,397,284
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Rab3gap2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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Rrp15 |
ribosomal RNA processing 15 homolog |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:98,276,276...98,299,357
Ensembl chr13:98,276,134...98,299,370
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Slc30a10 |
solute carrier family 30, member 10 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103
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Spata17 |
spermatogenesis associated 17 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:98,605,986...98,784,855
Ensembl chr13:98,605,986...98,784,929
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Taf1a |
TATA-box binding protein associated factor, RNA polymerase I subunit A |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:95,012,160...95,048,131
Ensembl chr13:95,029,225...95,048,087
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Tgfb2 |
transforming growth factor, beta 2 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
OMIM ClinVar |
PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 PMID:9536098 PMID:9599222 PMID:10611753 PMID:16199547 PMID:17576681 PMID:22772368 PMID:22772371 PMID:23102774 PMID:24033266 PMID:24193348 PMID:24465802 PMID:24577266 PMID:25046559 PMID:25049390 PMID:25640679 PMID:25644172 PMID:25741868 PMID:26017485 PMID:26854089 PMID:27782106 PMID:28139901 PMID:28492532 PMID:28544325 PMID:28550590 PMID:28633253 PMID:28655553 PMID:29392890 PMID:29510914 PMID:29543232 PMID:29907982 PMID:30071990 PMID:30739908 PMID:31191903 PMID:31915033 PMID:32154675 PMID:32277047 PMID:32307099 PMID:32897753 PMID:33418956 PMID:34008892 PMID:35205249 More...
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NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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Tgfb3 |
transforming growth factor, beta 3 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:2618446 PMID:24798638 PMID:25835445 PMID:28425089 PMID:28492532 |
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NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
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Ush2a |
usherin |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
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Tgfb3 |
transforming growth factor, beta 3 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 5 | ClinVar Annotator: match by term: Rienhoff syndrome |
OMIM ClinVar |
PMID:1631557 PMID:2618446 PMID:7737999 PMID:9536098 PMID:9683588 PMID:12529708 PMID:15639475 PMID:16199547 PMID:17576681 PMID:22943793 PMID:23824657 PMID:23861362 PMID:24125834 PMID:24238504 PMID:24798638 PMID:25136781 PMID:25351510 PMID:25447171 PMID:25637381 PMID:25741868 PMID:25835445 PMID:26184463 PMID:26188975 PMID:27848944 PMID:28087566 PMID:28166282 PMID:28240702 PMID:28425089 PMID:28492532 PMID:28798025 PMID:29109152 PMID:29247119 PMID:29392890 PMID:29551499 PMID:29907982 PMID:30675029 PMID:31568572 PMID:31898322 PMID:32746448 PMID:32897753 PMID:34076677 PMID:34659991 PMID:36973604 More...
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NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
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Smad2 |
SMAD family member 2 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 6 | ClinVar Annotator: match by term: SMAD2-related condition |
OMIM ClinVar |
PMID:15210694 PMID:25741868 PMID:26247899 PMID:28283438 PMID:28492532 PMID:29392890 PMID:29967133 PMID:30157302 PMID:34655614 More...
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NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
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Tgfbr2 |
transforming growth factor, beta receptor 2 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B |
ClinVar |
PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 PMID:9927040 PMID:11212236 PMID:12202987 PMID:12821554 PMID:12825850 PMID:15235604 PMID:15731757 PMID:16027248 PMID:16249459 PMID:16251899 PMID:16283890 PMID:16791849 PMID:16799921 PMID:16835936 PMID:16885183 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17330129 PMID:17344846 PMID:17345643 PMID:17418587 PMID:17470566 PMID:17576681 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18781618 PMID:18827873 PMID:18852674 PMID:19006214 PMID:19159394 PMID:19533785 PMID:19542084 PMID:19875893 PMID:19996017 PMID:20144264 PMID:20628007 PMID:20829218 PMID:20956634 PMID:21098638 PMID:21267002 PMID:21270064 PMID:21324918 PMID:21484991 PMID:21524434 PMID:22095581 PMID:22113417 PMID:22259224 PMID:22488992 PMID:22772368 PMID:23103230 PMID:23228659 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24199744 PMID:24220024 PMID:24792536 PMID:24793577 PMID:24941995 PMID:24983314 PMID:25116393 PMID:25203624 PMID:25326637 PMID:25637381 PMID:25644172 PMID:25741868 PMID:25944730 PMID:26017485 PMID:26133393 PMID:26848186 PMID:26877057 PMID:27100340 PMID:27112580 PMID:27139629 PMID:27508510 PMID:27611364 PMID:27879313 PMID:27930701 PMID:28225382 PMID:28492532 PMID:28659821 PMID:28679693 PMID:29168297 PMID:29339704 PMID:29543232 PMID:29907982 PMID:30056620 PMID:30158670 PMID:30341550 PMID:30675401 PMID:30701076 PMID:31098894 PMID:31769227 PMID:31915033 PMID:32420711 PMID:32528524 PMID:32897753 PMID:33083483 PMID:33391346 PMID:33726816 PMID:33824467 PMID:34958866 PMID:35535697 PMID:35727495 More...
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NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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Tmpo |
thymopoietin |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B |
ClinVar |
PMID:16247757 PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 PMID:25741868 PMID:27662471 PMID:28074886 PMID:28492532 PMID:28798025 PMID:30327538 More...
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NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
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