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G |
ACE |
angiotensin I converting enzyme |
susceptibility |
IAGP |
DNA:insertion/deletion:intron 16: |
RGD |
PMID:14765837 |
RGD:40400724 |
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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G |
IFT88 |
intraflagellar transport 88 |
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ISS |
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MouseDO |
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NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444
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G |
MTHFR |
methylenetetrahydrofolate reductase |
susceptibility |
IAGP |
associated with rheumatic heart disease;DNA:SNP:cds:677C>T (human) |
RGD |
PMID:26813460 |
RGD:11537145 |
NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
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G |
MAP3K7 |
mitogen-activated protein kinase kinase kinase 7 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
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G |
SH3PXD2B |
SH3 and PX domains 2B |
|
IAGP EXP |
ClinVar Annotator: match by term: Frank-Ter Haar syndrome ClinVar Annotator: match by term: Megalocornea, multiple skeletal anomalies, and developmental delay ClinVar Annotator: match by term: BORRONE DERMATOCARDIOSKELETAL SYNDROME | ClinVar Annotator: match by term: Frank-Ter Haar syndrome | ClinVar Annotator: match by term: Megalocornea, multiple skeletal anomalies, and developmental delay CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:7158646 PMID:8484415 PMID:15523657 PMID:20137777 PMID:22509100 PMID:23140272 PMID:24105366 PMID:25741868 PMID:28492532 PMID:29276006 PMID:31931872 PMID:31978614 More...
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NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525
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G |
COL2A1 |
collagen type II alpha 1 chain |
|
IAGP |
ClinVar Annotator: match by term: MASS syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:35296718 |
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NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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G |
FBN1 |
fibrillin 1 |
|
IAGP EXP |
ClinVar Annotator: match by term: MASS syndrome ClinVar Annotator: match by term: Overlap connective tissue disease ClinVar Annotator: match by term: MASS syndrome | ClinVar Annotator: match by term: Overlap connective tissue disease CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:627879 PMID:948948 PMID:1569206 PMID:2005308 PMID:2254511 PMID:2739055 PMID:3212331 PMID:3495735 PMID:4750422 PMID:7802039 PMID:7870075 PMID:8004112 PMID:8040326 PMID:8541880 PMID:8653794 PMID:8723076 PMID:8791520 PMID:9338581 PMID:9399842 PMID:9401003 PMID:9452085 PMID:9536098 PMID:9837823 PMID:10464652 PMID:10486319 PMID:10533071 PMID:10612827 PMID:10633129 PMID:11068200 PMID:11143906 PMID:11175294 PMID:11315929 PMID:11524736 PMID:11700157 PMID:11702223 PMID:11748851 PMID:11826022 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12161601 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15880509 PMID:15980072 PMID:16199547 PMID:16220557 PMID:16222657 PMID:16342915 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16765689 PMID:16835936 PMID:16905551 PMID:16971892 PMID:17242066 PMID:17253931 PMID:17418587 PMID:17503327 PMID:17576681 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17701892 PMID:17718856 PMID:18079676 PMID:18087243 PMID:18435798 PMID:18615205 PMID:19012347 PMID:19059503 PMID:19089573 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19349279 PMID:19353630 PMID:19370756 PMID:19533785 PMID:19618372 PMID:19780835 PMID:19802897 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20301510 PMID:20375004 PMID:20564469 PMID:20699357 PMID:20886638 PMID:21542060 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22772377 PMID:22950452 PMID:23278365 PMID:23506379 PMID:23577066 PMID:23608731 PMID:23684891 PMID:23719250 PMID:23794388 PMID:24033266 PMID:24161884 PMID:24199744 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25326635 PMID:25504618 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25900864 PMID:25907466 PMID:25944730 PMID:26133393 PMID:26188975 PMID:26214305 PMID:26269718 PMID:26272055 PMID:26272908 PMID:26333736 PMID:26498160 PMID:26559152 PMID:26621581 PMID:26787436 PMID:26875674 PMID:27058611 PMID:27106435 PMID:27112580 PMID:27146836 PMID:27153395 PMID:27234404 PMID:27274304 PMID:27353645 PMID:27382527 PMID:27437668 PMID:27582083 PMID:27611364 PMID:27647783 PMID:27724990 PMID:27906200 PMID:27930701 PMID:27959697 PMID:28050602 PMID:28087566 PMID:28098115 PMID:28301460 PMID:28468757 PMID:28492532 PMID:28539832 PMID:28550590 PMID:28636274 PMID:28642162 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28855619 PMID:28901506 PMID:28941062 PMID:28973303 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29768367 PMID:29848614 PMID:29875124 PMID:29907982 PMID:30048161 PMID:30056620 PMID:30057829 PMID:30341550 PMID:30513137 PMID:30653986 PMID:30675029 PMID:30739908 PMID:30796334 PMID:30838813 PMID:31008308 PMID:31020005 PMID:31098894 PMID:31163209 PMID:31167969 PMID:31211624 PMID:31211626 PMID:31227806 PMID:31605817 PMID:31727422 PMID:31730815 PMID:31751304 PMID:31774634 PMID:31825148 PMID:31903434 PMID:31950671 PMID:32009526 PMID:32123317 PMID:32679894 PMID:32730690 PMID:32939518 PMID:33100332 PMID:33243733 PMID:33282382 PMID:33436942 PMID:33483584 PMID:33824467 PMID:34008892 PMID:34135346 PMID:34281902 PMID:34422331 PMID:34498425 PMID:34818515 PMID:35877578 PMID:36973604 More...
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NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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G |
LOC113939944 |
Sharpr-MPRA regulatory region 9539 |
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IAGP |
ClinVar Annotator: match by term: Overlap connective tissue disease |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28659821 |
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NCBI chr15:48,520,532...48,520,826
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G |
LOC126862124 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765 |
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IAGP |
ClinVar Annotator: match by term: Overlap connective tissue disease ClinVar Annotator: match by term: MASS syndrome |
ClinVar |
PMID:9399842 PMID:11524736 PMID:11748851 PMID:12938084 PMID:14695540 PMID:15161917 PMID:16222657 PMID:16571647 PMID:17627385 PMID:17657824 PMID:17701892 PMID:19161152 PMID:19293843 PMID:23506379 PMID:24033266 PMID:24941995 PMID:25637381 PMID:25741868 PMID:25812041 PMID:26621581 PMID:26787436 PMID:27112580 PMID:27153395 PMID:27582083 PMID:27906200 PMID:28492532 PMID:28655553 PMID:29357934 More...
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NCBI chr15:48,472,369...48,473,568
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G |
LOC130057019 |
ATAC-STARR-seq lymphoblastoid silent region 6417 |
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IAGP |
ClinVar Annotator: match by term: Overlap connective tissue disease |
ClinVar |
PMID:25741868 PMID:27906200 PMID:27930701 PMID:28492532 |
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NCBI chr15:48,644,684...48,644,733
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G |
LOC130057020 |
ATAC-STARR-seq lymphoblastoid silent region 6418 |
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IAGP |
ClinVar Annotator: match by term: MASS syndrome |
ClinVar |
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NCBI chr15:48,644,834...48,644,963
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G |
MAP3K7 |
mitogen-activated protein kinase kinase kinase 7 |
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IAGP |
ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome DNA:missense mutations, deletions:CDS:multiple (human) |
OMIM ClinVar RGD |
PMID:20186786 PMID:25741868 PMID:27426733 PMID:27426734 PMID:28492532 PMID:29467388 PMID:32105826 PMID:27426734 More...
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RGD:11552967 |
NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
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G |
ALOXE3 |
arachidonate lipoxygenase 3 |
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IAGP |
ClinVar Annotator: match by term: Mitral regurgitation |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047
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G |
FBN1 |
fibrillin 1 |
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IAGP |
ClinVar Annotator: match by term: Mitral regurgitation |
ClinVar |
PMID:16571647 PMID:16905551 PMID:17657824 PMID:17701892 PMID:19349279 PMID:25741868 PMID:28492532 More...
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NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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G |
HES7 |
hes family bHLH transcription factor 7 |
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IAGP |
ClinVar Annotator: match by term: Mitral regurgitation |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106
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G |
LMCD1 |
LIM and cysteine rich domains 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26301497 |
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NCBI chr 3:8,501,823...8,574,668
Ensembl chr 3:8,501,807...8,574,668
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G |
LOC126862485 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:8020998-8022197 |
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IAGP |
ClinVar Annotator: match by term: Mitral regurgitation |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,117,680...8,118,879
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G |
LOC130060199 |
ATAC-STARR-seq lymphoblastoid active region 11663 |
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IAGP |
ClinVar Annotator: match by term: Mitral regurgitation |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,118,981...8,119,080
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G |
LOC130060200 |
ATAC-STARR-seq lymphoblastoid silent region 8152 |
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IAGP |
ClinVar Annotator: match by term: Mitral regurgitation |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,119,601...8,119,650
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G |
LOC130060201 |
ATAC-STARR-seq lymphoblastoid silent region 8153 |
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IAGP |
ClinVar Annotator: match by term: Mitral regurgitation |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,119,781...8,119,870
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G |
LOC130060202 |
ATAC-STARR-seq lymphoblastoid silent region 8154 |
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IAGP |
ClinVar Annotator: match by term: Mitral regurgitation |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,120,241...8,120,450
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G |
LOC130060203 |
ATAC-STARR-seq lymphoblastoid silent region 8155 |
|
IAGP |
ClinVar Annotator: match by term: Mitral regurgitation |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,121,391...8,121,850
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G |
LOC130060204 |
ATAC-STARR-seq lymphoblastoid silent region 8156 |
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IAGP |
ClinVar Annotator: match by term: Mitral regurgitation |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,122,071...8,122,180
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G |
LOC130060205 |
ATAC-STARR-seq lymphoblastoid silent region 8157 |
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IAGP |
ClinVar Annotator: match by term: Mitral regurgitation |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,125,625...8,125,674
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G |
LOC130060206 |
ATAC-STARR-seq lymphoblastoid silent region 8159 |
|
IAGP |
ClinVar Annotator: match by term: Mitral regurgitation |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,126,515...8,126,704
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G |
TRG-GCC2-6 |
tRNA-Gly (anticodon GCC) 2-6 |
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IAGP |
ClinVar Annotator: match by term: Mitral regurgitation |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,125,746...8,125,816
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G |
TRK-TTT3-5 |
tRNA-Lys (anticodon TTT) 3-5 |
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IAGP |
ClinVar Annotator: match by term: Mitral regurgitation |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,119,155...8,119,227
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G |
TRL-TAG1-1 |
tRNA-Leu (anticodon TAG) 1-1 |
|
IAGP |
ClinVar Annotator: match by term: Mitral regurgitation |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,120,314...8,120,395
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G |
TRQ-CTG1-5 |
tRNA-Gln (anticodon CTG) 1-5 |
|
IAGP |
ClinVar Annotator: match by term: Mitral regurgitation |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,119,752...8,119,823
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G |
TRR-TCT2-1 |
tRNA-Arg (anticodon TCT) 2-1 |
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IAGP |
ClinVar Annotator: match by term: Mitral regurgitation |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,120,925...8,121,012
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G |
ACE |
angiotensin I converting enzyme |
severity |
IEA IAGP |
associated with Marfan Syndrome;DNA:polymorphism,haplotype: |
GAD RGD |
PMID:15118671 PMID:17379330 |
RGD:1331525, RGD:13432357 |
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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G |
AGT |
angiotensinogen |
severity |
IEA IAGP |
associated with Marfan Syndrome;DNA:haplotype:cds: p.M235T(human) |
GAD RGD |
PMID:15118671 PMID:17379330 |
RGD:1331525, RGD:13432357 |
NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
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G |
DCHS1 |
dachsous cadherin-related 1 |
|
ISS |
OMIM:157700 | OMIM:607829 | OMIM:610840 |
MouseDO |
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NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809
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G |
DES |
desmin |
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IEP |
protein:altered expression:;eft ventricule |
RGD |
PMID:27464577 |
RGD:13542088 |
NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735
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G |
DZIP1 |
DAZ interacting zinc finger protein 1 |
|
ISS |
OMIM:157700 | OMIM:607829 | OMIM:610840 |
MouseDO |
|
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NCBI chr13:95,578,202...95,644,706
Ensembl chr13:95,578,202...95,644,706
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G |
FBN1 |
fibrillin 1 |
|
IAGP |
ClinVar Annotator: match by term: Mitral valve prolapse |
ClinVar RGD |
PMID:25741868 PMID:12918850 |
RGD:1580379 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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G |
FLNA |
filamin A |
|
IAGP |
DNA:missense mutation:cds:p.G288R (human) |
RGD |
PMID:24243761 |
RGD:11565119 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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G |
HLA-B |
major histocompatibility complex, class I, B |
|
IAGP |
associated with Graves Disease; DNA:polymorphism:cds:HLA-B15 (human) |
RGD |
PMID:8894996 |
RGD:7365110 |
NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
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G |
LMCD1 |
LIM and cysteine rich domains 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26301497 |
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NCBI chr 3:8,501,823...8,574,668
Ensembl chr 3:8,501,807...8,574,668
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G |
LTBP3 |
latent transforming growth factor beta binding protein 3 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25899461 |
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NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930
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G |
PACS1 |
phosphofurin acidic cluster sorting protein 1 |
|
IAGP |
ClinVar Annotator: match by term: Mitral valve prolapse |
ClinVar |
PMID:23159249 PMID:25326635 PMID:25356970 PMID:25522177 PMID:25533962 PMID:25741868 PMID:25741881 PMID:26795593 PMID:26842493 PMID:26944241 PMID:27681385 PMID:28111752 PMID:28135719 PMID:28471432 PMID:28492532 PMID:28554332 PMID:28628100 PMID:28975623 PMID:29550517 PMID:30113927 PMID:30588754 PMID:30690871 PMID:32963807 PMID:34068396 More...
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NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744
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G |
PLAU |
plasminogen activator, urokinase |
|
IAGP |
|
RGD |
PMID:15262029 |
RGD:1580896 |
NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
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G |
SLC39A13 |
solute carrier family 39 member 13 |
|
IAGP |
ClinVar Annotator: match by term: Mitral valve prolapse |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496
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G |
TSHR |
thyroid stimulating hormone receptor |
|
IAGP |
|
RGD |
PMID:10199795 |
RGD:1580775 |
NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306
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G |
TTN |
titin |
|
IAGP |
ClinVar Annotator: match by term: Mitral valve prolapse |
ClinVar |
PMID:22335739 PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 PMID:35653365 PMID:36264615 More...
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NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
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G |
TTN-AS1 |
TTN antisense RNA 1 |
|
IAGP |
ClinVar Annotator: match by term: Mitral valve prolapse |
ClinVar |
PMID:22335739 PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 PMID:35653365 PMID:36264615 More...
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NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
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G |
IL10 |
interleukin 10 |
|
IEP |
|
RGD |
PMID:16155388 |
RGD:1598624 |
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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G |
DCHS1 |
dachsous cadherin-related 1 |
|
IAGP EXP |
ClinVar Annotator: match by term: DCHS1-related disorder | ClinVar Annotator: match by term: Mitral valve prolapse, myxomatous 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:12707861 PMID:17576681 PMID:25741868 PMID:26258302 PMID:28492532 PMID:28518168 PMID:32461654 More...
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NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809
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G |
LOC130005209 |
ATAC-STARR-seq lymphoblastoid active region 4351 |
|
IAGP |
ClinVar Annotator: match by term: DCHS1-related disorder |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:6,622,473...6,622,542
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G |
DZIP1 |
DAZ interacting zinc finger protein 1 |
|
IAGP EXP |
ClinVar Annotator: match by term: Mitral valve prolapse, myxomatous 3 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 PMID:31118289 |
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NCBI chr13:95,578,202...95,644,706
Ensembl chr13:95,578,202...95,644,706
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G |
NOTCH1 |
notch receptor 1 |
|
IAGP |
ClinVar Annotator: match by term: Shone complex |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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G |
FLNA |
filamin A |
|
IAGP EXP |
DNA:missense mutations, deletion:cds, exons, introns:multiple (human) ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked | ClinVar Annotator: match by term: Myxomatous valvular dystrophy, X-linked CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:240645 PMID:1854572 PMID:8230166 PMID:9497244 PMID:9536098 PMID:10982489 PMID:12612583 PMID:16299064 PMID:16417552 PMID:16822260 PMID:16875750 PMID:17190868 PMID:17576681 PMID:17632775 PMID:18414213 PMID:19006219 PMID:20301567 PMID:22522697 PMID:24088041 PMID:25741868 PMID:26467025 PMID:26633545 PMID:26686323 PMID:26804200 PMID:27739212 PMID:28492532 PMID:29168297 PMID:29237676 PMID:30089473 PMID:30986657 PMID:32738303 PMID:35000503 PMID:17190868 More...
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RGD:11565121 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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G |
LOC107988032 |
Xq28 proximal FLNA-EMD recombination region |
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IAGP |
ClinVar Annotator: match by term: Myxomatous valvular dystrophy, X-linked ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked | ClinVar Annotator: match by term: Myxomatous valvular dystrophy, X-linked |
ClinVar |
PMID:25741868 PMID:28492532 PMID:35000503 |
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NCBI chr X:154,335,912...154,349,572
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