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G |
Agt |
angiotensinogen |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25807386 |
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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 |
Anks6 |
ankyrin repeat and sterile alpha motif domain containing 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23793029 |
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NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
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G |
Dnah9 |
dynein, axonemal, heavy chain 9 |
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ISO |
ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30471718 |
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NCBI chr10:50,496,174...50,864,909
Ensembl chr10:50,497,688...50,864,949
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G |
Ece1 |
endothelin converting enzyme 1 |
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ISO |
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RGD |
PMID:9649553 |
RGD:734910 |
NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
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G |
Edn1 |
endothelin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20707411 |
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NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Ednra |
endothelin receptor type A |
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ISO |
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RGD |
PMID:9649553 |
RGD:734910 |
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
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G |
Eya1 |
EYA transcriptional coactivator and phosphatase 1 |
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ISO |
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RGD |
PMID:21364285 |
RGD:11561941 |
NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
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G |
Fgf8 |
fibroblast growth factor 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16720880 |
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NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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G |
Foxc2 |
forkhead box C2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9409679 |
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NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
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G |
Gata2 |
GATA binding protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20707411 |
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NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
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G |
Gata6 |
GATA binding protein 6 |
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ISO |
ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology |
ClinVar |
PMID:22158542 PMID:24385578 PMID:25741868 |
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NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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G |
Gnaq |
G protein subunit alpha q |
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ISO |
ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology |
ClinVar |
PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 PMID:22253748 PMID:22653968 PMID:22733540 PMID:22808163 More...
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NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672
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G |
Gpx1 |
glutathione peroxidase 1 |
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ISO |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:16844917 |
RGD:2306611 |
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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G |
Lipt1 |
lipoyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology |
ClinVar |
PMID:25741868 PMID:27247813 PMID:28492532 PMID:33531667 |
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NCBI chr 9:40,107,938...40,118,268
Ensembl chr 9:40,098,615...40,113,565
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G |
Map2k1 |
mitogen activated protein kinase kinase 1 |
susceptibility |
ISO |
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RGD |
PMID:16439621 |
RGD:1580093 |
NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
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G |
Mitd1 |
microtubule interacting and trafficking domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology |
ClinVar |
PMID:25741868 PMID:27247813 PMID:28492532 PMID:33531667 |
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NCBI chr 9:40,113,943...40,125,280
Ensembl chr 9:40,113,946...40,125,289
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G |
Nkx2-5 |
NK2 homeobox 5 |
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ISO |
ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology |
ClinVar |
PMID:14607454 PMID:18414213 PMID:19181906 PMID:22179962 PMID:25741868 PMID:28492532 PMID:31824610 PMID:33835496 More...
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NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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G |
Nos2 |
nitric oxide synthase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19587355 |
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NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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G |
Notch1 |
notch receptor 1 |
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ISO |
ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology |
ClinVar |
PMID:16025100 PMID:25132448 PMID:25741868 |
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology |
ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17673550 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:22162582 PMID:22162589 PMID:22228622 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25326635 PMID:25326637 PMID:25599672 PMID:25741868 PMID:25880439 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28502725 PMID:29661094 PMID:29758562 PMID:29988677 PMID:30063105 PMID:30231930 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32595695 PMID:33077954 PMID:34008892 PMID:34496175 More...
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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G |
Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology |
ClinVar |
PMID:10564585 PMID:25741868 PMID:28492532 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Pten |
phosphatase and tensin homolog |
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ISO |
ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology |
ClinVar |
PMID:1336932 PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 PMID:9467011 PMID:9598803 PMID:9856571 PMID:10400993 PMID:10555148 PMID:10848731 PMID:10920277 PMID:10923032 PMID:11274365 PMID:11332402 PMID:11504908 PMID:11918710 PMID:15016963 PMID:15211648 PMID:15254419 PMID:15647370 PMID:16773562 PMID:16952599 PMID:17286265 PMID:17526800 PMID:17873882 PMID:18558293 PMID:18725974 PMID:18767981 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19458356 PMID:19829307 PMID:19903786 PMID:20018398 PMID:20085938 PMID:20453058 PMID:20619739 PMID:20881644 PMID:21194675 PMID:21956414 PMID:22162582 PMID:22162589 PMID:22266152 PMID:22381246 PMID:22479427 PMID:22491738 PMID:23335809 PMID:23349303 PMID:23470840 PMID:23475934 PMID:23764071 PMID:23934601 PMID:24033266 PMID:24345843 PMID:24778394 PMID:25157968 PMID:25288137 PMID:25741868 PMID:26467025 PMID:26773036 PMID:27426521 PMID:28286253 PMID:28492532 PMID:28526761 PMID:28655553 PMID:29594054 PMID:30528446 PMID:30614812 PMID:30659124 PMID:31336731 PMID:33083010 PMID:33372952 PMID:35227301 PMID:36988593 More...
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NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology |
ClinVar |
PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14676626 PMID:15240615 PMID:15273746 PMID:15385933 PMID:15710330 PMID:15928039 PMID:15987685 PMID:16263833 PMID:16358218 PMID:16377799 PMID:16461457 PMID:16533526 PMID:16990350 PMID:17020470 PMID:17972951 PMID:18331608 PMID:18378677 PMID:18470943 PMID:18562489 PMID:19008228 PMID:19047918 PMID:19179468 PMID:19251646 PMID:19795160 PMID:19835954 PMID:20651068 PMID:21365683 PMID:22371576 PMID:22420426 PMID:23321623 PMID:24033266 PMID:24628801 PMID:24718990 PMID:25097206 PMID:25383899 PMID:25395418 PMID:25741868 PMID:26084119 PMID:26242988 PMID:26673822 PMID:27069254 PMID:27276561 PMID:28492532 PMID:30325180 PMID:31134136 More...
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NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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G |
Srf |
serum response factor |
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ISO |
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RGD |
PMID:15569937 |
RGD:1581424 |
NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733
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G |
Stra6 |
signaling receptor and transporter of retinol STRA6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18316031 |
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NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860
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G |
Tbx1 |
T-box transcription factor 1 |
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ISO |
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RGD |
PMID:21364285 |
RGD:11561941 |
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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G |
Tek |
TEK receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology |
ClinVar |
PMID:7783168 PMID:7833915 PMID:8415706 PMID:8980225 PMID:9926914 PMID:10369874 PMID:19888299 PMID:20301733 PMID:25741868 PMID:26319232 PMID:28492532 More...
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NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804
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G |
Zic3 |
Zic family member 3 |
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ISO |
X-linked visceral heterotaxy, OMIM:306955 |
RGD |
PMID:9354794 |
RGD:1599909 |
NCBI chr X:136,123,662...136,129,627
Ensembl chr X:136,124,026...136,134,746
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G |
Fgf8 |
fibroblast growth factor 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12223415 |
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NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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G |
Six1 |
SIX homeobox 1 |
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ISO |
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RGD |
PMID:21364285 |
RGD:11561941 |
NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975
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G |
Tbx1 |
T-box transcription factor 1 |
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ISO |
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RGD |
PMID:16452092 |
RGD:155663362 |
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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G |
Colec10 |
collectin subfamily member 10 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 3MC syndrome 3 |
OMIM CTD ClinVar |
PMID:25741868 PMID:28301481 |
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NCBI chr 7:85,744,895...85,806,368
Ensembl chr 7:85,744,895...85,805,675
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G |
Colec11 |
collectin sub-family member 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258343 |
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NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145
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G |
Masp1 |
MBL associated serine protease 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258343 |
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NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974
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G |
Fgd1 |
FYVE, RhoGEF and PH domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aarskog syndrome |
CTD ClinVar |
PMID:4146757 PMID:7954831 PMID:10930571 PMID:11093277 PMID:11940089 PMID:14560308 PMID:15327482 PMID:15809997 PMID:16353258 PMID:16688726 PMID:17152066 PMID:17847065 PMID:20082460 PMID:21739585 PMID:23211637 PMID:25046119 PMID:25741868 PMID:26029706 PMID:27959697 PMID:28492532 PMID:29276006 More...
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NCBI chr X:20,023,746...20,066,734
Ensembl chr X:20,023,746...20,066,566
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G |
Tsr2 |
TSR2, ribosome maturation factor |
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ISO |
ClinVar Annotator: match by term: Aarskog syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:20,064,102...20,072,673
Ensembl chr X:20,064,103...20,072,620
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G |
Ankef1 |
ankyrin repeat and EF-hand domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 |
ClinVar |
PMID:28492532 PMID:32733715 |
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NCBI chr 3:123,847,832...123,883,060
Ensembl chr 3:123,847,817...123,883,059
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G |
Hao1 |
hydroxyacid oxidase 1 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 |
ClinVar |
PMID:28492532 PMID:32733715 |
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NCBI chr 3:121,757,400...121,828,721
Ensembl chr 3:121,771,836...121,828,721
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G |
Jag1 |
jagged canonical Notch ligand 1 |
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ISO ISS |
ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar Annotator: match by term: Arteriohepatic dysplasia OMIM:118450 | OMIM:610205 ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia CTD Direct Evidence: marker/mechanism DNA:insertion:exon:c.962_963insA (human) |
ClinVar MouseDO CTD OMIM RGD |
PMID:9207787 PMID:9207788 PMID:9536098 PMID:9585603 PMID:9700188 PMID:10213047 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 PMID:11139247 PMID:11152664 PMID:11157803 PMID:11180599 PMID:11259677 PMID:12022040 PMID:12239725 PMID:12244555 PMID:12297837 PMID:12442286 PMID:12497640 PMID:12649809 PMID:15358557 PMID:15712272 PMID:15772854 PMID:15990638 PMID:16199547 PMID:16575836 PMID:16875832 PMID:17241866 PMID:17576681 PMID:17720887 PMID:17949281 PMID:18616530 PMID:18660822 PMID:19058200 PMID:19187973 PMID:19780835 PMID:19948535 PMID:20301450 PMID:20437614 PMID:20586101 PMID:21532573 PMID:21752016 PMID:21917145 PMID:22040217 PMID:22382802 PMID:22405927 PMID:22487239 PMID:22488849 PMID:22759690 PMID:23891399 PMID:23956173 PMID:24033266 PMID:24748328 PMID:25260786 PMID:25326637 PMID:25525159 PMID:25606387 PMID:25676721 PMID:25741868 PMID:26076142 PMID:26548814 PMID:26633542 PMID:26760175 PMID:26785492 PMID:27256232 PMID:27760138 PMID:28166811 PMID:28372585 PMID:28492532 PMID:28695677 PMID:29187043 PMID:29483232 PMID:29555955 PMID:29707407 PMID:29783821 PMID:30074189 PMID:30293987 PMID:30651579 PMID:31343788 PMID:31475041 PMID:31595668 PMID:32065591 PMID:32733715 PMID:33433009 PMID:33532864 PMID:34071626 PMID:34150014 PMID:34185059 PMID:34746741 PMID:11745040 PMID:16875832 PMID:21714972 More...
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RGD:1580651, RGD:6482237, RGD:6482232 |
NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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G |
Lamp5 |
lysosomal-associated membrane protein family, member 5 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 |
ClinVar |
PMID:28492532 PMID:32733715 |
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NCBI chr 3:123,372,462...123,384,973
Ensembl chr 3:123,372,462...123,384,952
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G |
Mkks |
MKKS centrosomal shuttling protein |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 |
ClinVar |
PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 PMID:32733715 More...
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NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
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G |
Notch2 |
notch receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 |
CTD ClinVar OMIM RGD |
PMID:16773578 PMID:24728327 PMID:25016221 PMID:25741868 PMID:28492532 PMID:28512196 PMID:28566479 PMID:28776642 PMID:28941602 PMID:31749841 PMID:16773578 More...
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RGD:1580762 |
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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G |
Pak5 |
p21 (RAC1) activated kinase 5 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 |
ClinVar |
PMID:28492532 PMID:32733715 |
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NCBI chr 3:123,395,678...123,703,967
Ensembl chr 3:123,396,497...123,703,930
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G |
Plcb1 |
phospholipase C beta 1 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 |
ClinVar |
PMID:28492532 PMID:32733715 |
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NCBI chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869
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G |
Plcb4 |
phospholipase C, beta 4 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 |
ClinVar |
PMID:28492532 PMID:32733715 |
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NCBI chr 3:122,952,965...123,322,522
Ensembl chr 3:122,953,196...123,322,392
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G |
Slx4ip |
SLX4 interacting protein |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 |
ClinVar |
PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 PMID:32733715 More...
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NCBI chr 3:124,220,215...124,396,797
Ensembl chr 3:124,221,198...124,396,797
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G |
Snap25 |
synaptosome associated protein 25 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 |
ClinVar |
PMID:10213047 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 PMID:32733715 More...
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NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
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G |
Tmx4 |
thioredoxin-related transmembrane protein 4 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 |
ClinVar |
PMID:28492532 PMID:32733715 |
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NCBI chr 3:121,856,237...121,899,680
Ensembl chr 3:121,856,261...121,899,641
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G |
Kcnj2 |
potassium inwardly-rectifying channel, subfamily J, member 2 |
|
ISO |
ClinVar Annotator: match by term: Andersen Syndrome | ClinVar Annotator: match by term: Andersen Tawil syndrome | ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8078584 PMID:11371347 PMID:11841151 PMID:11861044 PMID:12045162 PMID:12086641 PMID:12148092 PMID:12163457 PMID:12689820 PMID:12796536 PMID:12909315 PMID:14522976 PMID:15028050 PMID:15276028 PMID:15757667 PMID:15761194 PMID:15831539 PMID:15851159 PMID:15852530 PMID:15911703 PMID:15922306 PMID:16217063 PMID:16419128 PMID:16533896 PMID:16541386 PMID:16571646 PMID:16818210 PMID:16834334 PMID:17074642 PMID:17119796 PMID:17210839 PMID:17211524 PMID:17221872 PMID:17324964 PMID:17341397 PMID:17399642 PMID:17399643 PMID:17568571 PMID:17581963 PMID:17582433 PMID:17619200 PMID:17640933 PMID:17655675 PMID:18313615 PMID:18452873 PMID:18554214 PMID:19041665 PMID:19111761 PMID:19201608 PMID:19570891 PMID:19931173 PMID:20111058 PMID:20382953 PMID:20647529 PMID:20713726 PMID:21148745 PMID:21493816 PMID:21875779 PMID:22002906 PMID:22166941 PMID:22186697 PMID:22286118 PMID:22308236 PMID:22371365 PMID:22581653 PMID:22589293 PMID:22806368 PMID:22944906 PMID:22982078 PMID:23516313 PMID:23564459 PMID:23595086 PMID:23631430 PMID:23644778 PMID:23861362 PMID:23867365 PMID:24025405 PMID:24033266 PMID:24047492 PMID:24211314 PMID:24383070 PMID:24388587 PMID:24395924 PMID:24561538 PMID:24721648 PMID:24861851 PMID:25223803 PMID:25284084 PMID:25351510 PMID:25410959 PMID:25415519 PMID:25637381 PMID:25741868 PMID:25847018 PMID:26109178 PMID:26230511 PMID:26304528 PMID:26322597 PMID:26467025 PMID:26927354 PMID:26937109 PMID:27145478 PMID:27456059 PMID:27789106 PMID:27920829 PMID:28003625 PMID:28024840 PMID:28336205 PMID:28341588 PMID:28491792 PMID:28492532 PMID:28501311 PMID:28589536 PMID:28600387 PMID:28606196 PMID:28711067 PMID:28798025 PMID:29017447 PMID:29247119 PMID:29606556 PMID:29874177 PMID:29915097 PMID:30298493 PMID:30516834 PMID:30533530 PMID:30615648 PMID:30847666 PMID:30975432 PMID:31068157 PMID:31483760 PMID:31521807 PMID:31534214 PMID:31567646 PMID:31737537 PMID:31890843 PMID:32145446 PMID:32184906 PMID:32299589 PMID:32499698 PMID:32969603 PMID:33057326 PMID:34127479 PMID:34426522 PMID:34516623 More...
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NCBI chr10:96,060,834...96,071,397
Ensembl chr10:96,060,821...96,071,445
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G |
Kcnj5 |
potassium inwardly-rectifying channel, subfamily J, member 5 |
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ISO |
ClinVar Annotator: match by term: Andersen Tawil syndrome | ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features |
ClinVar |
PMID:20560207 PMID:21311022 PMID:22203740 PMID:24574546 PMID:25417227 PMID:25741868 PMID:28492532 PMID:30764634 PMID:31521807 More...
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NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518
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G |
Ankib1 |
ankyrin repeat and IBR domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas |
ClinVar |
PMID:25741868 |
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NCBI chr 4:30,333,678...30,457,781
Ensembl chr 4:30,333,677...30,457,781
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G |
Krit1 |
KRIT1, ankyrin repeat containing |
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ISO |
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas |
ClinVar |
PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359
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G |
Ace |
angiotensin I converting enzyme |
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IEP |
mRNA, protein:increased expression:myocardium (rat) |
RGD |
PMID:18419956 |
RGD:12859271 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Agt |
angiotensinogen |
treatment |
ISO |
DNA:polymorphism: :c.704T>C (human) |
RGD |
PMID:21450583 |
RGD:13432358 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Gata6 |
GATA binding protein 6 |
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ISO |
ClinVar Annotator: match by term: Midaortic syndrome |
ClinVar |
PMID:29483232 |
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NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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G |
Jag1 |
jagged canonical Notch ligand 1 |
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ISO |
ClinVar Annotator: match by term: Midaortic syndrome |
ClinVar |
PMID:10220506 PMID:11139247 PMID:11180599 PMID:16199547 PMID:24748328 PMID:28492532 PMID:29483232 PMID:30074189 PMID:31343788 PMID:34185059 More...
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NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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G |
Mthfr |
methylenetetrahydrofolate reductase |
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ISO |
DNA:transition:cds:g.677C>T (human) |
RGD |
PMID:19764075 |
RGD:4891157 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Nf1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: Midaortic syndrome |
ClinVar |
PMID:9536098 PMID:10712197 PMID:10862084 PMID:12552569 PMID:15146469 PMID:16199547 PMID:16513807 PMID:16944272 PMID:17576681 PMID:23637863 PMID:23668869 PMID:23758643 PMID:23913538 PMID:24413922 PMID:24654934 PMID:25074460 PMID:25741868 PMID:26088551 PMID:28492532 PMID:29290338 PMID:29483232 PMID:29926981 PMID:30287823 PMID:30308447 PMID:30530636 PMID:31160754 PMID:36988593 More...
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NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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G |
Rnf213 |
ring finger protein 213 |
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ISO |
ClinVar Annotator: match by term: Midaortic syndrome |
ClinVar |
PMID:29483232 |
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NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918
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G |
Col5a1 |
collagen type V alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Aortic valve disease 1 |
ClinVar |
PMID:25741868 PMID:28074886 PMID:28492532 PMID:30858776 PMID:31903434 |
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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 |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IEP |
mRNA:increased expression:aorta (rat) |
RGD |
PMID:22659116 |
RGD:12914785 |
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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G |
Gata5 |
GATA binding protein 5 |
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ISO |
ClinVar Annotator: match by term: Aortic valve disease 1 |
ClinVar |
PMID:28387797 PMID:28492532 PMID:30675029 |
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NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751
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G |
Il6 |
interleukin 6 |
severity |
ISO |
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RGD |
PMID:23969418 |
RGD:12792206 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Notch1 |
notch receptor 1 |
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ISO |
DNA:nonsense mutation, deletion:cds:p.R1108X, p.H1505Xfs (human) ClinVar Annotator: match by term: Aortic valve disease 1 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:9536098 PMID:15472075 PMID:16025100 PMID:16614245 PMID:16729972 PMID:17576681 PMID:17662764 PMID:18593716 PMID:19245433 PMID:19635999 PMID:20007775 PMID:20981092 PMID:21457232 PMID:21670202 PMID:22077063 PMID:22210878 PMID:22858860 PMID:23086750 PMID:23578328 PMID:23734977 PMID:23798201 PMID:24033266 PMID:24113472 PMID:24418111 PMID:24728327 PMID:24943832 PMID:25104330 PMID:25132448 PMID:25260786 PMID:25326637 PMID:25500235 PMID:25587027 PMID:25741868 PMID:25907466 PMID:25931334 PMID:25963545 PMID:26188975 PMID:26580448 PMID:26699486 PMID:26708639 PMID:26820064 PMID:26837699 PMID:27760138 PMID:27993330 PMID:28074886 PMID:28387797 PMID:28492532 PMID:28776427 PMID:28991257 PMID:29641532 PMID:29907982 PMID:29924900 PMID:30059548 PMID:30511478 PMID:30582441 PMID:30609409 PMID:31624253 PMID:31633846 PMID:31654484 PMID:31866570 PMID:32277046 PMID:32748548 PMID:33110418 PMID:33914609 PMID:33994118 PMID:35101336 PMID:35288444 PMID:16025100 More...
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RGD:1580758 |
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Smad6 |
SMAD family member 6 |
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ISO |
ClinVar Annotator: match by term: Aortic valve disease 1 |
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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G |
Tbx20 |
T-box transcription factor 20 |
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ISO |
ClinVar Annotator: match by term: Aortic valve disease 1 |
ClinVar |
PMID:19762328 PMID:25741868 PMID:27510170 PMID:27642787 PMID:28553164 PMID:30820038 More...
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NCBI chr 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175
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G |
Robo4 |
roundabout guidance receptor 4 |
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ISO |
ClinVar Annotator: match by term: Aortic valve disease 3 |
OMIM ClinVar |
PMID:25741868 PMID:30455415 |
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NCBI chr 8:37,119,953...37,133,887
Ensembl chr 8:37,119,988...37,132,519
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G |
Abcc9 |
ATP binding cassette subfamily C member 9 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:20890277 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 More...
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NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
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G |
Actn2 |
actinin alpha 2 |
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ISO |
DNA:polymorphism: : ClinVar Annotator: match by term: Cardiomyopathy, ARVC |
ClinVar RGD |
PMID:25224718 PMID:25741868 PMID:28492532 PMID:31956495 PMID:11078270 |
RGD:13506947 |
NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
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G |
Akap9 |
A-kinase anchoring protein 9 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 |
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NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606
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G |
Ank2 |
ankyrin 2 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
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G |
Bag3 |
BAG cochaperone 3 |
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ISO |
ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:21898660 PMID:23861362 PMID:25741868 PMID:28492532 PMID:29382405 PMID:30615648 PMID:33658040 PMID:34426522 More...
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NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
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G |
Cacna1c |
calcium voltage-gated channel subunit alpha1 C |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
PMID:23861362 PMID:25447171 PMID:25661095 PMID:25741868 PMID:28492532 |
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NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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G |
Cacnb2 |
calcium voltage-gated channel auxiliary subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106
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G |
Calr3 |
calreticulin 3 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
PMID:17655857 PMID:23861362 PMID:28492532 |
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NCBI chr16:17,396,064...17,423,166
Ensembl chr16:17,396,247...17,423,015
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G |
Cdh2 |
cadherin 2 |
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ISO |
DNA:missense mutations:cds:c.686A>C(p.Q229P), c.1219G>A (p.D407N)(human) DNA:mutation:cds:c.1219G>A(p.D407N)(human) |
RGD |
PMID:28280076 PMID:28326674 |
RGD:13524622, RGD:13524623 |
NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
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G |
Des |
desmin |
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ISO |
DNA:mutation:cds:c.1203G>C (p.E401D)(human) protein:decreased expression:cardiac ventricle (mouse) ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC |
ClinVar RGD |
PMID:10717012 PMID:10905661 PMID:14991347 PMID:15050448 PMID:21262226 PMID:22153487 PMID:23425003 PMID:23575897 PMID:24033266 PMID:25179549 PMID:25741868 PMID:27532257 PMID:27854218 PMID:28492532 PMID:31718026 PMID:33023321 PMID:29212896 PMID:27412010 More...
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RGD:13525009, RGD:265253172 |
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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G |
Dmd |
dystrophin |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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G |
Dsc2 |
desmocollin 2 |
susceptibility |
ISO |
protein:decreased expression:myocardium of ventricle (mouse) ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia protein:decreased expression:cardiac ventricle (mouse) protein:decreased expression:heart right ventricle (human) DNA:SNP:exon 11: c.1660C>T, p.Gln554X (human) |
ClinVar RGD |
PMID:7971964 PMID:17033975 PMID:17186466 PMID:17963498 PMID:18382419 PMID:18678517 PMID:18957847 PMID:19863551 PMID:20031616 PMID:20031617 PMID:20197793 PMID:20400443 PMID:20716751 PMID:20829228 PMID:20857253 PMID:20864495 PMID:21062920 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21859740 PMID:23147450 PMID:23299917 PMID:23396983 PMID:23757202 PMID:23861362 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24503780 PMID:24704780 PMID:24832006 PMID:24967631 PMID:25163546 PMID:25351510 PMID:25447171 PMID:25569433 PMID:25637381 PMID:25741868 PMID:26138720 PMID:26332594 PMID:26656175 PMID:26743238 PMID:27054166 PMID:27153395 PMID:28255936 PMID:28471438 PMID:28492532 PMID:28798025 PMID:29367541 PMID:29802319 PMID:31024045 PMID:31333075 PMID:31402444 PMID:31568572 PMID:34426522 PMID:27834139 PMID:27412010 PMID:24086444 PMID:25497880 More...
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RGD:243065269, RGD:265253172, RGD:243065273, RGD:243065272 |
NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
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G |
Dsg2 |
desmoglein 2 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia protein:decreased expression:septum, heart left ventricle, heart right ventricle (human) |
ClinVar RGD |
PMID:2040044 PMID:12586364 PMID:16025435 PMID:16199547 PMID:16505173 PMID:16773573 PMID:16774985 PMID:17105751 PMID:17372169 PMID:18382419 PMID:18632414 PMID:18678517 PMID:18813333 PMID:19039334 PMID:19151369 PMID:19358943 PMID:19569224 PMID:19863551 PMID:19955750 PMID:20031616 PMID:20031617 PMID:20129281 PMID:20152563 PMID:20197793 PMID:20400443 PMID:20603720 PMID:20708101 PMID:20716751 PMID:20829228 PMID:20857253 PMID:20864495 PMID:21397041 PMID:21455723 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21859740 PMID:22000064 PMID:22214898 PMID:23071725 PMID:23137101 PMID:23299917 PMID:23381804 PMID:23514727 PMID:23671136 PMID:23810883 PMID:23810894 PMID:23812740 PMID:23861362 PMID:23871674 PMID:23871885 PMID:23889974 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24082139 PMID:24238504 PMID:24436435 PMID:24503780 PMID:24704780 PMID:24967631 PMID:25087486 PMID:25172079 PMID:25213555 PMID:25332820 PMID:25351510 PMID:25445213 PMID:25525159 PMID:25637381 PMID:25741868 PMID:25765472 PMID:25820315 PMID:26138720 PMID:26220970 PMID:26230511 PMID:26688388 PMID:26899768 PMID:27194543 PMID:27532257 PMID:27930701 PMID:28255936 PMID:28283360 PMID:28323875 PMID:28341588 PMID:28471438 PMID:28492532 PMID:28578331 PMID:28818065 PMID:28878402 PMID:29038103 PMID:29062102 PMID:29178656 PMID:29343803 PMID:29396286 PMID:29544605 PMID:29606362 PMID:29759408 PMID:30454721 PMID:30790397 PMID:30847666 PMID:30885746 PMID:31019283 PMID:31333075 PMID:31386562 PMID:31402444 PMID:31542937 PMID:31568572 PMID:31645976 PMID:31845994 PMID:31983221 PMID:32746448 PMID:32880476 PMID:33232181 PMID:33652588 PMID:33673806 PMID:34012299 PMID:34036930 PMID:34317382 PMID:35087879 PMID:35300203 PMID:24086444 More...
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RGD:243065273 |
NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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G |
Dsp |
desmoplakin |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Right ventricular cardiomyopathy |
ClinVar RGD |
PMID:9536098 PMID:10395892 PMID:10594734 PMID:11063735 PMID:15941723 PMID:16199547 PMID:16628197 PMID:16774985 PMID:16917092 PMID:17576681 PMID:18382419 PMID:18632414 PMID:19095136 PMID:19279339 PMID:19358943 PMID:19558499 PMID:19863551 PMID:19924139 PMID:20031617 PMID:20129281 PMID:20152563 PMID:20400443 PMID:20716751 PMID:20738328 PMID:20864495 PMID:21062920 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21756917 PMID:21859740 PMID:22240500 PMID:22555271 PMID:23137101 PMID:23292937 PMID:23299917 PMID:23381804 PMID:23514727 PMID:23671136 PMID:23810894 PMID:23812740 PMID:23861362 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24125834 PMID:24503780 PMID:24704780 PMID:25157032 PMID:25163546 PMID:25225338 PMID:25227139 PMID:25351510 PMID:25525159 PMID:25569433 PMID:25616645 PMID:25637381 PMID:25661095 PMID:25691752 PMID:25693453 PMID:25741868 PMID:26230511 PMID:26332594 PMID:26498160 PMID:26569459 PMID:26585738 PMID:26606670 PMID:26656175 PMID:26850880 PMID:26899768 PMID:27000522 PMID:27097650 PMID:27153395 PMID:27435932 PMID:27532257 PMID:28045975 PMID:28074886 PMID:28087426 PMID:28254189 PMID:28416588 PMID:28471438 PMID:28473349 PMID:28492532 PMID:28527814 PMID:28588093 PMID:28611029 PMID:28759816 PMID:28790152 PMID:28798025 PMID:29062697 PMID:29253866 PMID:29633331 PMID:29892087 PMID:29915098 PMID:30354334 PMID:30398466 PMID:30775854 PMID:30847666 PMID:31110529 PMID:31264976 PMID:31317183 PMID:31378211 PMID:31386562 PMID:31402444 PMID:31447099 PMID:31514951 PMID:31727422 PMID:31737537 PMID:31785789 PMID:32277046 PMID:32372669 PMID:33087929 PMID:33313835 PMID:33652588 PMID:34290054 PMID:34352074 PMID:35083019 PMID:12875771 More...
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RGD:1580890 |
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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G |
Fhl2 |
four and a half LIM domains 2 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
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NCBI chr 9:45,388,979...45,462,421
Ensembl chr 9:45,388,981...45,431,192
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G |
Flnc |
filamin C |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32112656 |
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NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844
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G |
Gja1 |
gap junction protein, alpha 1 |
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ISO |
protein:altered expression:ventricle protein:decreased expression:cardiac ventricle (mouse) protein:decreased expression:buccal mucosa |
RGD |
PMID:23178689 PMID:27412010 PMID:26850880 |
RGD:11352402, RGD:265253172, RGD:13592599 |
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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G |
Hcn4 |
hyperpolarization activated cyclic nucleotide-gated potassium channel 4 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
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NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
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G |
Ift43 |
intraflagellar transport 43 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
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NCBI chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257
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G |
Il6r |
interleukin 6 receptor |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21859801 |
RGD:10402826 |
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
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G |
Jup |
junction plakoglobin |
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ISO |
protein:altered expression:ventricle ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC |
ClinVar RGD |
PMID:24033266 PMID:24884844 PMID:25741868 PMID:28098346 PMID:28492532 PMID:33673806 PMID:23178689 More...
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RGD:11352402 |
NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
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G |
Kcne1 |
potassium voltage-gated channel subfamily E regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC |
ClinVar |
PMID:9328483 PMID:9354783 PMID:9354802 PMID:9445165 PMID:10400998 PMID:10428953 PMID:10973849 PMID:11320260 PMID:11874988 PMID:12566567 PMID:15840476 PMID:16818210 PMID:19008479 PMID:19340287 PMID:19521339 PMID:19716085 PMID:22166941 PMID:22581653 PMID:23124029 PMID:23510998 PMID:23631430 PMID:24033266 PMID:24400172 PMID:24561134 PMID:24606995 PMID:25637381 PMID:25741868 PMID:26187847 PMID:28176637 PMID:28492532 PMID:30847666 PMID:31447099 PMID:31737537 PMID:31835641 PMID:31941373 PMID:32058015 PMID:32344329 More...
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NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
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G |
Kcnh2 |
potassium voltage-gated channel subfamily H member 2 |
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ISO |
ClinVar Annotator: match by term: Cardiomyopathy, ARVC |
ClinVar |
PMID:15176425 PMID:16244680 PMID:22402334 PMID:22581653 PMID:25741868 PMID:28492532 More...
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NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
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G |
Lama4 |
laminin subunit alpha 4 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:30847666 PMID:31333075 PMID:31568572 PMID:32880476 More...
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NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347
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G |
Ldb3 |
LIM domain binding 3 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:20474083 PMID:23861362 PMID:24033266 PMID:25179549 PMID:25351510 PMID:25741868 PMID:28492532 PMID:30847666 More...
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NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532
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G |
Lmna |
lamin A/C |
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ISO |
DNA:duplication:cds:c.418_438dup (human) ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC |
ClinVar RGD |
PMID:22224630 PMID:22266370 PMID:22464770 PMID:23183350 PMID:23853504 PMID:24033266 PMID:24503780 PMID:24846508 PMID:25741868 PMID:27532257 PMID:27585670 PMID:27723096 PMID:27884249 PMID:28492532 PMID:29149195 PMID:29237675 PMID:30165862 PMID:30402260 PMID:30528549 PMID:30765282 PMID:30847666 PMID:30871747 PMID:31303467 PMID:31447099 PMID:31829210 PMID:34363016 PMID:35526016 PMID:25837155 More...
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RGD:11056513 |
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G |
Mir130a |
microRNA 130a |
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ISO |
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RGD |
PMID:27834139 |
RGD:243065269 |
NCBI chr 3:69,822,542...69,822,629
Ensembl chr 3:69,822,542...69,822,629
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G |
Mir320a |
microRNA 320a |
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ISO |
miRNA:decreased expression:blood plasma (human) |
RGD |
PMID:28684747 |
RGD:155882549 |
NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473
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G |
Myh6 |
myosin heavy chain 6 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:16199547 PMID:25741868 PMID:28492532 PMID:28991257 PMID:29132927 |
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NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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G |
Myh7 |
myosin heavy chain 7 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:7731997 PMID:7796500 PMID:8483915 PMID:8541871 PMID:8951566 PMID:9172070 PMID:9742054 PMID:9835779 PMID:10024460 PMID:10725281 PMID:12974739 PMID:16650083 PMID:17125710 PMID:17192269 PMID:17703256 PMID:19150014 PMID:20031618 PMID:21310275 PMID:21674835 PMID:21750094 PMID:22429680 PMID:22765922 PMID:23074333 PMID:23283745 PMID:23816408 PMID:23861362 PMID:24033266 PMID:24093860 PMID:24111713 PMID:24119082 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25611685 PMID:25741868 PMID:27247418 PMID:27519903 PMID:27532257 PMID:28492532 PMID:28640247 PMID:28771489 PMID:29300372 PMID:29875424 PMID:30297972 PMID:30847666 PMID:31447099 PMID:31513939 PMID:31737537 PMID:32746448 PMID:32894683 PMID:33087929 PMID:33673806 PMID:34067482 More...
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NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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G |
Myl2 |
myosin light chain 2 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 PMID:28611029 PMID:35629155 |
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NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983
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G |
Myom1 |
myomesin 1 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344
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G |
Mypn |
myopalladin |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29016939 PMID:31983221 |
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NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443
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G |
Pdlim3 |
PDZ and LIM domain 3 |
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ISS |
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MouseDO |
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NCBI chr16:46,352,460...46,383,680
Ensembl chr16:46,352,467...46,383,657
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G |
Pkp2 |
plakophilin 2 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia |
ClinVar RGD |
PMID:2412583 PMID:9536098 PMID:15489853 PMID:16101641 PMID:16199547 PMID:16415378 PMID:16549640 PMID:16567567 PMID:16774985 PMID:16893920 PMID:17010805 PMID:17363426 PMID:17372169 PMID:17521752 PMID:17556197 PMID:17576681 PMID:18382419 PMID:18554203 PMID:18662195 PMID:19084810 PMID:19095136 PMID:19279339 PMID:19302745 PMID:19358943 PMID:19427443 PMID:19533476 PMID:19569224 PMID:19863551 PMID:19880068 PMID:19955750 PMID:20031616 PMID:20031617 PMID:20129281 PMID:20152563 PMID:20197793 PMID:20400443 PMID:20525856 PMID:20603720 PMID:20646679 PMID:20716751 PMID:20829228 PMID:20857253 PMID:20864495 PMID:21062920 PMID:21301620 PMID:21378009 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21822014 PMID:21859740 PMID:22019812 PMID:22036071 PMID:22085907 PMID:22177269 PMID:22214898 PMID:22458570 PMID:22781308 PMID:23085127 PMID:23137101 PMID:23178689 PMID:23183494 PMID:23270881 PMID:23299917 PMID:23347029 PMID:23514727 PMID:23671136 PMID:23810883 PMID:23810894 PMID:23812740 PMID:23861362 PMID:23863954 PMID:23871674 PMID:23871885 PMID:23889974 PMID:23911551 PMID:23973953 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24125834 PMID:24200904 PMID:24200905 PMID:24352520 PMID:24503780 PMID:24558114 PMID:24585727 PMID:24618965 PMID:24704780 PMID:24784157 PMID:24832006 PMID:24967631 PMID:25087486 PMID:25163546 PMID:25332820 PMID:25351510 PMID:25445213 PMID:25447171 PMID:25525159 PMID:25611685 PMID:25616645 PMID:25637381 PMID:25676813 PMID:25741868 PMID:25741869 PMID:25765472 PMID:25820315 PMID:25825243 PMID:25825460 PMID:25857910 PMID:25979592 PMID:26138720 PMID:26264440 PMID:26314686 PMID:26332594 PMID:26406308 PMID:26467025 PMID:26498160 PMID:26656175 PMID:26676851 PMID:26743238 PMID:26850880 PMID:27153395 PMID:27194543 PMID:27335691 PMID:27532257 PMID:27650965 PMID:27727376 PMID:27831900 PMID:27930701 PMID:28069705 PMID:28166282 PMID:28177452 PMID:28253841 PMID:28255936 PMID:28301460 PMID:28341588 PMID:28359509 PMID:28431057 PMID:28471438 PMID:28472724 PMID:28492532 PMID:28518168 PMID:28588093 PMID:28611399 PMID:28705875 PMID:28807990 PMID:29099038 PMID:29128982 PMID:29178656 PMID:29221435 PMID:29288195 PMID:29582136 PMID:29606362 PMID:29802319 PMID:29915097 PMID:29940860 PMID:29997227 PMID:30161220 PMID:30354609 PMID:30385303 PMID:30445427 PMID:30562116 PMID:30571190 PMID:30615648 PMID:30656044 PMID:30677492 PMID:30764827 PMID:30765282 PMID:30790397 PMID:30847666 PMID:31156706 PMID:31319917 PMID:31333075 PMID:31386562 PMID:31402444 PMID:31447099 PMID:31514951 PMID:31539150 PMID:31568572 PMID:31638835 PMID:31702781 PMID:31737537 PMID:32183154 PMID:32372669 PMID:32522011 PMID:32600061 PMID:33087929 PMID:33232181 PMID:33238575 PMID:34469894 PMID:35535697 PMID:35655036 PMID:16567567 PMID:27412010 PMID:15489853 More...
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RGD:1580872, RGD:265253172, RGD:1580873 |
NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730
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G |
Ppp1r13l |
protein phosphatase 1, regulatory subunit 13 like |
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ISS |
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MouseDO |
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NCBI chr 1:79,010,997...79,030,714
Ensembl chr 1:79,011,745...79,030,712
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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G |
Rbm20 |
RNA binding motif protein 20 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC |
ClinVar |
PMID:23396983 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26498160 PMID:26656175 PMID:27296017 PMID:28492532 PMID:29892087 PMID:30775854 More...
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NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060
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G |
RGD1310553 |
similar to expressed sequence AI597479 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
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NCBI chr 9:45,371,396...45,382,123
Ensembl chr 9:45,371,430...45,382,120
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G |
Ryr2 |
ryanodine receptor 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Right ventricular cardiomyopathy |
ClinVar RGD |
PMID:11159936 PMID:12093772 PMID:12459180 PMID:16769042 PMID:18326664 PMID:19709828 PMID:19926015 PMID:21315846 PMID:22677073 PMID:22787013 PMID:23757202 PMID:23861362 PMID:24025405 PMID:24033266 PMID:24447446 PMID:24558114 PMID:24981977 PMID:25351510 PMID:25467552 PMID:25637381 PMID:25741868 PMID:25925909 PMID:26112015 PMID:26189708 PMID:27646203 PMID:27650965 PMID:28087566 PMID:28150229 PMID:28404607 PMID:28492532 PMID:28771489 PMID:29477366 PMID:29874177 PMID:31112425 PMID:31337358 PMID:31931689 PMID:32233023 PMID:11159936 More...
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RGD:1599243 |
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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G |
Scn5a |
sodium voltage-gated channel alpha subunit 5 |
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ISO |
protein:altered expression:ventricle ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia |
ClinVar RGD |
PMID:10973849 PMID:11222472 PMID:12354768 PMID:12820704 PMID:14523039 PMID:15466642 PMID:15840476 PMID:15840483 PMID:15851227 PMID:16325048 PMID:16414944 PMID:16540748 PMID:17161064 PMID:17210839 PMID:18071069 PMID:18361072 PMID:18452873 PMID:19412328 PMID:19841300 PMID:20129283 PMID:20403459 PMID:20539757 PMID:20875080 PMID:22373669 PMID:22378279 PMID:22557970 PMID:22581653 PMID:23008441 PMID:23098067 PMID:23503384 PMID:23631430 PMID:23805106 PMID:23861362 PMID:24033266 PMID:24653702 PMID:25163546 PMID:25351510 PMID:25741868 PMID:25829473 PMID:25904541 PMID:25923670 PMID:26066609 PMID:26159999 PMID:26209461 PMID:26467025 PMID:26633542 PMID:26749013 PMID:27041150 PMID:27287068 PMID:28069705 PMID:28265756 PMID:28492532 PMID:28600387 PMID:28781330 PMID:29032884 PMID:29574140 PMID:30084490 PMID:31333075 PMID:31568572 PMID:31737537 PMID:32048431 PMID:32323320 PMID:32600061 PMID:33221895 PMID:33535892 PMID:34755423 PMID:35932045 PMID:23178689 More...
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RGD:11352402 |
NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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G |
Sgca |
sarcoglycan, alpha |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:79,904,698...79,922,808
Ensembl chr10:79,908,738...79,922,813
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G |
Sos1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:17143282 PMID:17143285 PMID:17586837 PMID:19953625 PMID:20981092 PMID:23487764 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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G |
Tax1bp3 |
Tax1 binding protein 3 |
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ISO |
ClinVar Annotator: match by term: TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
PMID:25645515 PMID:25741868 PMID:32576985 |
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NCBI chr10:57,795,845...57,800,363
Ensembl chr10:57,795,382...57,800,363
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G |
Tgfb3 |
transforming growth factor, beta 3 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:23861362 PMID:25637381 PMID:25741868 PMID:28492532 PMID:28798025 PMID:31568572 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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G |
Tmem43 |
transmembrane protein 43 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:18313022 PMID:18414213 PMID:19467449 PMID:20010364 PMID:21214875 PMID:22458570 PMID:22725725 PMID:23161701 PMID:23400628 PMID:23671136 PMID:23810883 PMID:23812740 PMID:23861362 PMID:24033266 PMID:24125834 PMID:24598986 PMID:25343256 PMID:25741868 PMID:26467025 PMID:26513349 PMID:27153395 PMID:28471438 PMID:28491673 PMID:28492532 PMID:29040414 PMID:29980933 PMID:30700137 More...
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NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
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G |
Tmpo |
thymopoietin |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 PMID:25741868 PMID:28074886 PMID:28492532 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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G |
Trpm4 |
transient receptor potential cation channel, subfamily M, member 4 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:21887725 PMID:25741868 PMID:26820365 PMID:28492532 PMID:30391667 PMID:30535908 More...
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NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
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G |
Ttn |
titin |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Right ventricular cardiomyopathy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25016126 PMID:25448463 PMID:25741868 PMID:26467025 PMID:26498160 PMID:26516846 PMID:27662471 PMID:28492532 PMID:28750076 PMID:28771489 PMID:28857138 PMID:30564623 More...
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NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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G |
Xpc |
XPC complex subunit, DNA damage recognition and repair factor |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
PMID:18414213 PMID:23400628 PMID:25741868 PMID:28492532 |
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NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010
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G |
Dsc2 |
desmocollin 2 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 |
ClinVar |
PMID:19863551 PMID:23299917 PMID:25637381 PMID:25741868 PMID:28492532 |
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NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
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G |
Dsg2 |
desmoglein 2 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 |
ClinVar |
PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19569224 PMID:20031616 PMID:20129281 PMID:20603720 PMID:20829228 PMID:20857253 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21859740 PMID:23071725 PMID:23299917 PMID:23671136 PMID:23812740 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24082139 PMID:24436435 PMID:24704780 PMID:25332820 PMID:25445213 PMID:25637381 PMID:25741868 PMID:26138720 PMID:26230511 PMID:26899768 PMID:28492532 PMID:29062102 PMID:35819174 More...
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NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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G |
Dsp |
desmoplakin |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 |
ClinVar |
PMID:21723241 PMID:24070718 PMID:25741868 PMID:26138720 PMID:28492532 |
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NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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G |
Mybpc3 |
myosin binding protein C3 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 |
ClinVar |
PMID:15519027 PMID:18533079 PMID:20414521 PMID:20624503 PMID:21415409 PMID:21835320 PMID:22765922 PMID:23233322 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24093860 PMID:25524337 PMID:25741868 PMID:25971843 PMID:26090888 PMID:27267291 PMID:28420666 PMID:28492532 PMID:28518168 PMID:30446606 PMID:30645170 PMID:30731207 PMID:30871747 PMID:30972196 PMID:31376648 PMID:31453232 More...
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NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
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G |
Pkp2 |
plakophilin 2 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 |
ClinVar |
PMID:19863551 PMID:24704780 PMID:25741868 PMID:28492532 |
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NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730
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G |
Plec |
plectin |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467
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G |
Ryr2 |
ryanodine receptor 2 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 |
ClinVar |
PMID:25637381 PMID:25741868 PMID:28404607 PMID:28492532 PMID:30847666 |
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NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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G |
Tgfb3 |
transforming growth factor, beta 3 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:12529708 PMID:15639475 PMID:16199547 PMID:23824657 PMID:23861362 PMID:24798638 PMID:25741868 PMID:25835445 PMID:26184463 PMID:26188975 PMID:28087566 PMID:28166282 PMID:28492532 PMID:29109152 PMID:29247119 PMID:29392890 PMID:29551499 PMID:29907982 PMID:31898322 PMID:32746448 PMID:32897753 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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G |
Ttn |
titin |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 |
ClinVar |
PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 |
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NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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G |
Dsg2 |
desmoglein 2 |
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ISO ISS |
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 OMIM:610193 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:2040044 PMID:9536098 PMID:12586364 PMID:16025435 PMID:16199547 PMID:16505173 PMID:16773573 PMID:16774985 PMID:17105751 PMID:17372169 PMID:17576681 PMID:18382419 PMID:18632414 PMID:18639457 PMID:18678517 PMID:18813333 PMID:19039334 PMID:19151369 PMID:19279339 PMID:19358943 PMID:19569224 PMID:19863551 PMID:19955750 PMID:20031616 PMID:20031617 PMID:20129281 PMID:20152563 PMID:20197793 PMID:20400443 PMID:20603720 PMID:20708101 PMID:20716751 PMID:20829228 PMID:20857253 PMID:20864495 PMID:21220045 PMID:21397041 PMID:21455723 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21859740 PMID:22000064 PMID:22036071 PMID:22214898 PMID:22458570 PMID:23071725 PMID:23128240 PMID:23137101 PMID:23178689 PMID:23299917 PMID:23381804 PMID:23396983 PMID:23514727 PMID:23671136 PMID:23810883 PMID:23810894 PMID:23812740 PMID:23861362 PMID:23871674 PMID:23871885 PMID:23889974 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24082139 PMID:24086444 PMID:24125834 PMID:24238504 PMID:24436435 PMID:24503780 PMID:24585727 PMID:24704780 PMID:24967631 PMID:25059832 PMID:25087486 PMID:25172079 PMID:25174650 PMID:25209314 PMID:25213555 PMID:25332820 PMID:25351510 PMID:25445213 PMID:25525159 PMID:25616645 PMID:25637381 PMID:25741868 PMID:25765472 PMID:25819062 PMID:25820315 PMID:25877686 PMID:26112015 PMID:26138720 PMID:26220970 PMID:26230511 PMID:26498160 PMID:26633542 PMID:26656175 PMID:26688388 PMID:26743238 PMID:26822237 PMID:26850880 PMID:26899768 PMID:27005929 PMID:27055156 PMID:27114410 PMID:27135274 PMID:27194543 PMID:27532257 PMID:27930701 PMID:28087566 PMID:28254188 PMID:28254189 PMID:28255936 PMID:28283360 PMID:28288337 PMID:28323875 PMID:28341588 PMID:28416588 PMID:28454995 PMID:28471438 PMID:28472724 PMID:28492532 PMID:28567303 PMID:28578331 PMID:28588093 PMID:28600387 PMID:28611029 PMID:28818065 PMID:28878402 PMID:29016939 PMID:29038103 PMID:29062102 PMID:29178656 PMID:29192238 PMID:29247119 PMID:29343803 PMID:29396286 PMID:29456632 PMID:29517769 PMID:29544605 PMID:29606362 PMID:29750433 PMID:29759408 PMID:29773157 PMID:29790872 PMID:29802319 PMID:29899727 PMID:30177324 PMID:30391969 PMID:30454721 PMID:30471092 PMID:30533233 PMID:30615648 PMID:30731207 PMID:30790397 PMID:30847666 PMID:30885746 PMID:30919572 PMID:30975432 PMID:30985088 PMID:30993396 PMID:31019283 PMID:31333075 PMID:31386562 PMID:31402444 PMID:31447099 PMID:31542937 PMID:31568572 PMID:31638835 PMID:31645976 PMID:31737537 PMID:31845994 PMID:31983221 PMID:32041989 PMID:32102357 PMID:32268277 PMID:32516855 PMID:32569162 PMID:32659924 PMID:32665702 PMID:32682410 PMID:32746448 PMID:32880476 PMID:33029862 PMID:33087929 PMID:33232181 PMID:33238575 PMID:33500567 PMID:33652588 PMID:33673806 PMID:33789662 PMID:34012299 PMID:34036930 PMID:34137518 PMID:34317382 PMID:34426522 PMID:35087879 PMID:35300203 PMID:35819174 More...
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NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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Prkar1a |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 |
ClinVar |
PMID:25741868 |
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NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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G |
Ttr |
transthyretin |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 |
ClinVar |
PMID:28492532 |
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NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
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G |
Dsc2 |
desmocollin 2 |
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ISO |
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7971964 PMID:9536098 PMID:16199547 PMID:17033975 PMID:17186466 PMID:17363426 PMID:17576681 PMID:17963498 PMID:18382419 PMID:18678517 PMID:18957847 PMID:19863551 PMID:20031616 PMID:20031617 PMID:20152563 PMID:20197793 PMID:20400443 PMID:20646679 PMID:20716751 PMID:20829228 PMID:20857253 PMID:20864495 PMID:21062920 PMID:21220045 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21822014 PMID:21859740 PMID:22458570 PMID:22722193 PMID:23147450 PMID:23292937 PMID:23299917 PMID:23396983 PMID:23514727 PMID:23671136 PMID:23757202 PMID:23810894 PMID:23812740 PMID:23826350 PMID:23861362 PMID:23863954 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24125834 PMID:24503780 PMID:24704780 PMID:24832006 PMID:24967631 PMID:25163546 PMID:25351510 PMID:25390934 PMID:25447171 PMID:25497880 PMID:25516398 PMID:25525159 PMID:25569433 PMID:25576714 PMID:25637381 PMID:25640679 PMID:25741868 PMID:25819062 PMID:25820315 PMID:25825460 PMID:26138720 PMID:26220970 PMID:26332594 PMID:26498160 PMID:26656175 PMID:26743238 PMID:26768331 PMID:26780541 PMID:27000522 PMID:27054166 PMID:27153395 PMID:27532257 PMID:27884173 PMID:27930701 PMID:28069705 PMID:28153106 PMID:28166811 PMID:28255936 PMID:28288337 PMID:28341588 PMID:28416588 PMID:28471438 PMID:28492532 PMID:28588093 PMID:28600387 PMID:28798025 PMID:29032884 PMID:29178656 PMID:29255176 PMID:29367541 PMID:29590070 PMID:29641836 PMID:29750433 PMID:29802319 PMID:29970176 PMID:30122538 PMID:30790397 PMID:30847666 PMID:31024045 PMID:31333075 PMID:31386562 PMID:31397097 PMID:31402444 PMID:31484862 PMID:31534214 PMID:31568572 PMID:31638835 PMID:31737537 PMID:31931689 PMID:31970460 PMID:31980526 PMID:31983221 PMID:32009526 PMID:32665702 PMID:32746448 PMID:32853555 PMID:32880476 PMID:33087929 PMID:33258288 PMID:33652588 PMID:33662488 PMID:33684294 PMID:33784018 PMID:34135346 PMID:34426522 PMID:35276540 PMID:35470680 PMID:36293497 More...
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NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
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Jup |
junction plakoglobin |
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ISO ISS |
OMIM:611528 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 |
OMIM MouseDO CTD ClinVar |
PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:17576681 PMID:18672408 PMID:19863551 PMID:20031617 PMID:20130592 PMID:20152563 PMID:20525856 PMID:20857253 PMID:20864495 PMID:21606396 PMID:21668431 PMID:21859740 PMID:23299917 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24125834 PMID:24238504 PMID:24503780 PMID:25351510 PMID:25363760 PMID:25363768 PMID:25445213 PMID:25616645 PMID:25741868 PMID:25765472 PMID:25820315 PMID:26073755 PMID:26220970 PMID:26230511 PMID:26272908 PMID:27005929 PMID:27037756 PMID:27532257 PMID:27662471 PMID:27930701 PMID:28341588 PMID:28471438 PMID:28492532 PMID:28831623 PMID:28855170 PMID:29247119 PMID:29334134 PMID:29517769 PMID:29606362 PMID:29892012 PMID:30775854 PMID:30847666 PMID:31275992 PMID:31402444 PMID:31983221 PMID:32212272 PMID:32233023 PMID:32268277 PMID:32746448 PMID:32880476 PMID:33500567 PMID:33919104 PMID:34011629 PMID:34026867 PMID:35581137 More...
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NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
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G |
Ctnna3 |
catenin alpha 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 13 |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21254927 PMID:22421363 PMID:23136403 PMID:23375656 PMID:25050139 PMID:25640679 PMID:25741868 PMID:27231342 PMID:27535533 PMID:28202948 PMID:28416588 PMID:28492532 PMID:29544605 PMID:30847666 PMID:32880476 PMID:33497884 PMID:33789662 More...
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NCBI chr20:23,614,469...25,200,026
Ensembl chr20:23,623,560...25,199,978
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G |
Lrrtm3 |
leucine rich repeat transmembrane neuronal 3 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 13 |
ClinVar |
PMID:28492532 |
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NCBI chr20:24,515,627...24,689,669
Ensembl chr20:24,515,627...24,689,669
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G |
Cdh2 |
cadherin 2 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 14 |
OMIM ClinVar |
PMID:25741868 PMID:28280076 PMID:28326674 PMID:28492532 |
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NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
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G |
Rpsa |
ribosomal protein SA |
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ISS |
OMIM:604400 |
MouseDO |
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NCBI chr 8:119,851,225...119,855,103
Ensembl chr 8:119,851,225...119,855,247
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G |
Tmem43 |
transmembrane protein 43 |
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ISO |
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 5 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 5 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:16783378 PMID:17576681 PMID:18230648 PMID:18313022 PMID:18414213 PMID:19467449 PMID:20010364 PMID:20301718 PMID:20435227 PMID:21214875 PMID:21391237 PMID:21636032 PMID:22458570 PMID:22725725 PMID:23161701 PMID:23178689 PMID:23555315 PMID:23671136 PMID:23810883 PMID:23812740 PMID:23861362 PMID:24033266 PMID:24125834 PMID:24598986 PMID:25214167 PMID:25343256 PMID:25351510 PMID:25676813 PMID:25741868 PMID:25820315 PMID:26214305 PMID:26467025 PMID:26513349 PMID:26743238 PMID:26840987 PMID:27005929 PMID:27153395 PMID:27532257 PMID:28087566 PMID:28301460 PMID:28341588 PMID:28416588 PMID:28471438 PMID:28491673 PMID:28492532 PMID:28750076 PMID:29040414 PMID:29192238 PMID:29247119 PMID:29311375 PMID:29980933 PMID:30206291 PMID:30276209 PMID:30471092 PMID:30615648 PMID:30700137 PMID:30847666 PMID:30975432 PMID:31333075 PMID:31376648 PMID:31568572 PMID:32880476 PMID:33087929 PMID:33500567 PMID:33552729 PMID:33652588 PMID:33968641 PMID:34050020 More...
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NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
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G |
Bmp6 |
bone morphogenetic protein 6 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365
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G |
Dsp |
desmoplakin |
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ISO ISS |
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 OMIM:607450 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:8769422 PMID:9229116 PMID:9536098 PMID:9887343 PMID:10395892 PMID:10594734 PMID:11063735 PMID:11278896 PMID:11841538 PMID:12373648 PMID:12875771 PMID:15210133 PMID:15941723 PMID:16061754 PMID:16175511 PMID:16199547 PMID:16467215 PMID:16628197 PMID:16774985 PMID:16917092 PMID:17576681 PMID:18382419 PMID:18632414 PMID:19095136 PMID:19279339 PMID:19558499 PMID:19597050 PMID:19763152 PMID:19863551 PMID:19924139 PMID:20031617 PMID:20129281 PMID:20152563 PMID:20307669 PMID:20400443 PMID:20435227 PMID:20525856 PMID:20613772 PMID:20716751 PMID:20738328 PMID:20829228 PMID:20857253 PMID:20864495 PMID:20940358 PMID:21062920 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21756917 PMID:21859740 PMID:22214898 PMID:22216297 PMID:22240500 PMID:22406018 PMID:22454510 PMID:22555271 PMID:22995991 PMID:23137101 PMID:23292937 PMID:23299917 PMID:23381804 PMID:23396983 PMID:23465283 PMID:23514727 PMID:23524727 PMID:23651034 PMID:23671136 PMID:23810894 PMID:23812740 PMID:23861362 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24125834 PMID:24440382 PMID:24448499 PMID:24503780 PMID:24598986 PMID:24704780 PMID:24784157 PMID:24825141 PMID:24938629 PMID:24967631 PMID:24981977 PMID:25157032 PMID:25163546 PMID:25196244 PMID:25225338 PMID:25227139 PMID:25332820 PMID:25344691 PMID:25351510 PMID:25403600 PMID:25447171 PMID:25516398 PMID:25525159 PMID:25550050 PMID:25569433 PMID:25616645 PMID:25637381 PMID:25661095 PMID:25676813 PMID:25691752 PMID:25693453 PMID:25741868 PMID:25741904 PMID:25765472 PMID:25819062 PMID:25820315 PMID:25825460 PMID:25856671 PMID:25979592 PMID:26073755 PMID:26084686 PMID:26138720 PMID:26148547 PMID:26187847 PMID:26220970 PMID:26230511 PMID:26265630 PMID:26272908 PMID:26303123 PMID:26314686 PMID:26332594 PMID:26383259 PMID:26399581 PMID:26406308 PMID:26498160 PMID:26569459 PMID:26585738 PMID:26604139 PMID:26606670 PMID:26656175 PMID:26675346 PMID:26688388 PMID:26735901 PMID:26743238 PMID:26833927 PMID:26850880 PMID:26899768 PMID:27000522 PMID:27097650 PMID:27135274 PMID:27153395 PMID:27194543 PMID:27329731 PMID:27332903 PMID:27353043 PMID:27374306 PMID:27435932 PMID:27532257 PMID:27698334 PMID:27707468 PMID:27831900 PMID:27884173 PMID:27930701 PMID:28045975 PMID:28074886 PMID:28087426 PMID:28152038 PMID:28166811 PMID:28254189 PMID:28255936 PMID:28288337 PMID:28301460 PMID:28341588 PMID:28359509 PMID:28416588 PMID:28436997 PMID:28442525 PMID:28471438 PMID:28472724 PMID:28473349 PMID:28492532 PMID:28527814 PMID:28588093 PMID:28600387 PMID:28611029 PMID:28750076 PMID:28759816 PMID:28767663 PMID:28790152 PMID:28798025 PMID:28912206 PMID:29016939 PMID:29032884 PMID:29062697 PMID:29095814 PMID:29178656 PMID:29181379 PMID:29192238 PMID:29247119 PMID:29253866 PMID:29255176 PMID:29334134 PMID:29386531 PMID:29420653 PMID:29511324 PMID:29517769 PMID:29590070 PMID:29606362 PMID:29607617 PMID:29633331 PMID:29750433 PMID:29759408 PMID:29802319 PMID:29878302 PMID:29892087 PMID:29915097 PMID:29915098 PMID:29956481 PMID:29997227 PMID:30011071 PMID:30012837 PMID:30086531 PMID:30133754 PMID:30165862 PMID:30206291 PMID:30276209 PMID:30286183 PMID:30291343 PMID:30345701 PMID:30354300 PMID:30354334 PMID:30382575 PMID:30398466 PMID:30453078 PMID:30615648 PMID:30670673 PMID:30700137 PMID:30731207 PMID:30775854 PMID:30820396 PMID:30847666 PMID:30919684 PMID:30944905 PMID:30975432 PMID:30993396 PMID:31028357 PMID:31110529 PMID:31118017 PMID:31194698 PMID:31195250 PMID:31264976 PMID:31317183 PMID:31333075 PMID:31378211 PMID:31386562 PMID:31402444 PMID:31447099 PMID:31514951 PMID:31568572 PMID:31638414 PMID:31727422 PMID:31737537 PMID:31770195 PMID:31785789 PMID:31983221 PMID:32005173 PMID:32277046 PMID:32372669 PMID:32410525 PMID:32546831 PMID:32593191 PMID:32600061 PMID:32659924 PMID:32746448 PMID:32808748 PMID:32879264 PMID:32880476 PMID:32931854 PMID:32942234 PMID:32969603 PMID:33082984 PMID:33087929 PMID:33232181 PMID:33313835 PMID:33500567 PMID:33552729 PMID:33652588 PMID:33684294 PMID:33762593 PMID:33857019 PMID:34033898 PMID:34137518 PMID:34213952 PMID:34290054 PMID:34317553 PMID:34352074 PMID:34486814 PMID:35008956 PMID:35036946 PMID:35083019 PMID:35087879 PMID:35470680 PMID:35581137 PMID:36431211 PMID:36672924 More...
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NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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G |
Snrnp48 |
small nuclear ribonucleoprotein U11/U12 subunit 48 |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 |
ClinVar |
PMID:28492532 |
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NCBI chr17:26,596,266...26,616,058
Ensembl chr17:26,596,275...26,616,040
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G |
Tubb3 |
tubulin, beta 3 class III |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 |
ClinVar |
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NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
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G |
Des |
desmin |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
PMID:25741868 |
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NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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G |
Dnm1l |
dynamin 1-like |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
PMID:27066507 PMID:28492532 |
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NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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G |
Dsc2 |
desmocollin 2 |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
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NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
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G |
Dsg2 |
desmoglein 2 |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
PMID:16199547 PMID:16773573 PMID:17105751 PMID:19151369 PMID:19863551 PMID:20031617 PMID:20152563 PMID:20400443 PMID:20857253 PMID:23671136 PMID:24033266 PMID:25741868 PMID:25820315 PMID:27532257 PMID:28283360 PMID:28492532 PMID:28600387 PMID:30731207 PMID:30790397 PMID:31386562 PMID:31402444 PMID:33238575 More...
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NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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G |
Dsp |
desmoplakin |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
PMID:20716751 PMID:24503780 PMID:25227139 PMID:25741868 PMID:25820315 PMID:28492532 PMID:30345701 PMID:30700137 More...
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NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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G |
Fgd4 |
FYVE, RhoGEF and PH domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
PMID:27066507 PMID:28492532 |
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NCBI chr11:84,399,989...84,551,013
Ensembl chr11:84,399,816...84,546,972
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G |
Lmna |
lamin A/C |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G |
Myh6 |
myosin heavy chain 6 |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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G |
Myh7 |
myosin heavy chain 7 |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
PMID:25741868 |
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NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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G |
Pkp2 |
plakophilin 2 |
|
ISO |
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2163603 PMID:2412583 PMID:9536098 PMID:15489853 PMID:16101641 PMID:16199547 PMID:16415378 PMID:16549640 PMID:16567567 PMID:16774985 PMID:16799251 PMID:16893920 PMID:17010805 PMID:17041889 PMID:17363426 PMID:17372169 PMID:17521752 PMID:17556197 PMID:17576681 PMID:17908752 PMID:18382419 PMID:18554203 PMID:18662195 PMID:19084810 PMID:19095136 PMID:19279339 PMID:19302745 PMID:19358943 PMID:19427443 PMID:19533476 PMID:19569224 PMID:19863551 PMID:19880068 PMID:19955750 PMID:20031616 PMID:20031617 PMID:20129281 PMID:20152563 PMID:20197793 PMID:20400443 PMID:20525856 PMID:20573160 PMID:20603720 PMID:20646679 PMID:20716751 PMID:20829228 PMID:20857253 PMID:20864495 PMID:20890277 PMID:21062920 PMID:21301620 PMID:21378009 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21822014 PMID:21859740 PMID:22019812 PMID:22035158 PMID:22036071 PMID:22085907 PMID:22170284 PMID:22177269 PMID:22214898 PMID:22458570 PMID:22781308 PMID:22889254 PMID:23085127 PMID:23137101 PMID:23178689 PMID:23183494 PMID:23270881 PMID:23299917 PMID:23347029 PMID:23354045 PMID:23396983 PMID:23486541 PMID:23514727 PMID:23671136 PMID:23810883 PMID:23810894 PMID:23812740 PMID:23861362 PMID:23863954 PMID:23871674 PMID:23871885 PMID:23889974 PMID:23911551 PMID:23962865 PMID:23973953 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24125834 PMID:24200904 PMID:24200905 PMID:24352520 PMID:24503780 PMID:24558114 PMID:24585727 PMID:24618965 PMID:24632794 PMID:24704780 PMID:24768880 PMID:24784157 PMID:24832006 PMID:24967631 PMID:24981977 PMID:25087486 PMID:25157032 PMID:25163546 PMID:25196244 PMID:25326635 PMID:25332820 PMID:25351510 PMID:25395996 PMID:25445213 PMID:25447171 PMID:25525159 PMID:25611685 PMID:25616645 PMID:25637381 PMID:25640679 PMID:25650408 PMID:25676813 PMID:25741868 PMID:25741869 PMID:25765472 PMID:25820315 PMID:25825243 PMID:25825460 PMID:25857910 PMID:25971409 PMID:25979592 PMID:25998140 PMID:26138720 PMID:26220970 PMID:26230511 PMID:26264440 PMID:26314686 PMID:26332594 PMID:26406308 PMID:26467025 PMID:26498160 PMID:26656175 PMID:26676851 PMID:26701096 PMID:26743238 PMID:26850880 PMID:26887364 PMID:27000522 PMID:27005929 PMID:27030002 PMID:27066507 PMID:27085656 PMID:27114410 PMID:27122407 PMID:27153395 PMID:27194543 PMID:27335691 PMID:27532257 PMID:27650965 PMID:27697855 PMID:27711072 PMID:27727376 PMID:27831900 PMID:27930701 PMID:28069705 PMID:28074886 PMID:28097316 PMID:28166282 PMID:28166811 PMID:28177452 PMID:28253841 PMID:28255936 PMID:28301460 PMID:28341588 PMID:28359509 PMID:28416588 PMID:28431057 PMID:28471438 PMID:28472724 PMID:28492532 PMID:28518168 PMID:28588093 PMID:28600387 PMID:28611399 PMID:28705875 PMID:28750076 PMID:28807990 PMID:29038103 PMID:29099038 PMID:29128982 PMID:29172153 PMID:29178656 PMID:29192238 PMID:29221435 PMID:29247119 PMID:29288195 PMID:29343803 PMID:29456632 PMID:29497013 PMID:29511324 PMID:29540472 PMID:29582136 PMID:29606362 PMID:29802319 PMID:29915097 PMID:29940860 PMID:29961461 PMID:29997227 PMID:30161220 PMID:30260051 PMID:30279520 PMID:30354609 PMID:30385303 PMID:30445427 PMID:30471092 PMID:30562116 PMID:30571190 PMID:30615648 PMID:30656044 PMID:30662450 PMID:30677492 PMID:30678776 PMID:30685992 PMID:30700137 PMID:30763825 PMID:30764827 PMID:30765282 PMID:30790397 PMID:30821013 PMID:30847666 PMID:30985088 PMID:31156706 PMID:31319917 PMID:31333075 PMID:31386562 PMID:31402444 PMID:31447099 PMID:31514951 PMID:31539150 PMID:31568572 PMID:31638835 PMID:31702781 PMID:31737537 PMID:31983221 PMID:32165824 PMID:32183154 PMID:32372669 PMID:32397162 PMID:32443836 PMID:32522011 PMID:32600061 PMID:32659924 PMID:32746448 PMID:32880476 PMID:32906206 PMID:33029862 PMID:33087929 PMID:33179747 PMID:33232181 PMID:33238575 PMID:33500567 PMID:33552729 PMID:33652588 PMID:33919104 PMID:34008892 PMID:34120153 PMID:34135346 PMID:34426522 PMID:34469894 PMID:34486814 PMID:34540771 PMID:34816084 PMID:35535697 PMID:35653365 PMID:35655036 PMID:35932045 More...
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NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730
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G |
Prkag2 |
protein kinase AMP-activated non-catalytic subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
PMID:14519435 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 4:10,010,890...10,252,155
Ensembl chr 4:10,010,890...10,252,142
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G |
Ryr2 |
ryanodine receptor 2 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
PMID:25741868 |
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NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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G |
Ttn |
titin |
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ISO |
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26567375 PMID:26676851 PMID:28492532 PMID:29253866 More...
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NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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G |
Yars2 |
tyrosyl-tRNA synthetase 2 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
PMID:27066507 PMID:28492532 |
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NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125
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G |
Acta2 |
actin alpha 2, smooth muscle |
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ISO |
ClinVar Annotator: match by term: Arterial tortuosity |
ClinVar |
PMID:25741868 |
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NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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G |
Efemp2 |
EGF containing fibulin extracellular matrix protein 2 |
|
ISO |
DNA:missense mutation:CDS:p.D203A (human) |
RGD |
PMID:22943132 |
RGD:42722010 |
NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414
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G |
Emilin1 |
elastin microfibril interfacer 1 |
|
ISO |
ClinVar Annotator: match by term: Arterial tortuosity |
ClinVar |
PMID:28492532 |
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NCBI chr 6:25,455,974...25,463,713
Ensembl chr 6:25,445,298...25,463,698
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G |
Flna |
filamin A |
|
ISO |
ClinVar Annotator: match by term: Arterial tortuosity |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Mus81 |
MUS81 structure-specific endonuclease subunit |
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ISS |
OMIM:208050 |
MouseDO |
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NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843
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G |
Slc2a10 |
solute carrier family 2 member 10 |
|
ISO |
ClinVar Annotator: match by term: Arterial tortuosity syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:12801113 PMID:14569121 PMID:16199547 PMID:16550171 PMID:17163528 PMID:17576681 PMID:17935213 PMID:18565096 PMID:18774132 PMID:18818946 PMID:19028722 PMID:19622975 PMID:19781076 PMID:22488877 PMID:23410549 PMID:23494979 PMID:24033266 PMID:25326637 PMID:25373504 PMID:25741868 PMID:25907466 PMID:25944730 PMID:27153185 PMID:28492532 PMID:28726533 PMID:28829359 PMID:28855619 PMID:29323665 PMID:29543232 PMID:29907982 PMID:30090112 PMID:30425910 PMID:32368696 PMID:33144682 PMID:34668355 More...
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NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690
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G |
Ace |
angiotensin I converting enzyme |
treatment |
IEP IMP |
protein:increased activity:heart left ventricle (rat) |
RGD |
PMID:22768235 PMID:8386093 |
RGD:12859285, RGD:12880017 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Ackr1 |
atypical chemokine receptor 1 |
|
IEP |
|
RGD |
PMID:24429330 |
RGD:9681736 |
NCBI chr13:85,782,396...85,784,015
Ensembl chr13:85,782,398...85,783,983
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G |
Angpt2 |
angiopoietin 2 |
|
IEP |
mRNA:increased expression:lung (rat) |
RGD |
PMID:18692629 |
RGD:2314184 |
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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G |
Arrb1 |
arrestin, beta 1 |
|
IEP |
mRNA, protein:altered expression:left ventricle (rat) |
RGD |
PMID:22015551 |
RGD:5509867 |
NCBI chr 1:153,837,964...153,912,111
Ensembl chr 1:153,838,078...153,904,061
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G |
Arrb2 |
arrestin, beta 2 |
|
IEP |
mRNA, protein:altered expression:left ventricle (rat) |
RGD |
PMID:22015551 |
RGD:5509867 |
NCBI chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850
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G |
Col1a1 |
collagen type I alpha 1 chain |
|
IEP |
in Long Evans rats;mRNA:increased expression:aorta |
RGD |
PMID:16428894 |
RGD:8552771 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Des |
desmin |
|
IEP |
|
RGD |
PMID:10591032 |
RGD:13525010 |
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
|
RGD |
PMID:10541235 |
RGD:8655590 |
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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G |
Mmp2 |
matrix metallopeptidase 2 |
treatment |
IEP ISO |
protein:increased expression:ileal vein |
RGD |
PMID:17398390 PMID:23924957 |
RGD:1642040, RGD:13204800 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp9 |
matrix metallopeptidase 9 |
treatment |
IEP ISO |
|
RGD |
PMID:17398390 PMID:23924957 |
RGD:1642040, RGD:13204800 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Nos3 |
nitric oxide synthase 3 |
|
IEP |
protein:increased expression:vena cava |
RGD |
PMID:17344190 |
RGD:2292146 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Rbp4 |
retinol binding protein 4 |
exacerbates |
ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:33556944 |
RGD:329845868 |
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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G |
Timp4 |
TIMP metallopeptidase inhibitor 4 |
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IEP |
protein:decreased expression:ileal vein |
RGD |
PMID:17398390 |
RGD:1642040 |
NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558
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G |
Vegfa |
vascular endothelial growth factor A |
|
IEP ISO |
protein:increased expression:brain cortex, brain dura mater: |
RGD |
PMID:24626343 PMID:10541235 |
RGD:8551823, RGD:8655590 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Acvrl1 |
activin A receptor like type 1 |
|
ISO |
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RGD |
PMID:11062473 |
RGD:1300250 |
NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Arteriovenous malformation |
ClinVar |
PMID:17366577 PMID:25741868 PMID:26795593 |
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Eng |
endoglin |
susceptibility |
ISO |
associated with Telangiectasia, Hereditary Hemorrhagic; |
RGD |
PMID:8728706 PMID:24520391 |
RGD:11041184, RGD:11041564 |
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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G |
Ephb4 |
EPH receptor B4 |
|
ISO |
ClinVar Annotator: match by term: Arteriovenous malformation |
ClinVar |
PMID:25741868 PMID:28687708 PMID:30578106 PMID:30760892 |
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NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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G |
Glmn |
glomulin, FKBP associated protein |
|
ISO |
glomuvenous malformations |
RGD |
PMID:11845407 |
RGD:1598992 |
NCBI chr14:2,187,144...2,231,295
Ensembl chr14:2,187,642...2,230,420
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G |
Map2 |
microtubule-associated protein 2 |
|
IEP |
protein:decreased expression:hippocampus |
RGD |
PMID:20873448 |
RGD:6483324 |
NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
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G |
Mir10a |
microRNA 10a |
|
ISO |
miRNA:decreased expression:blood plasma (human) |
RGD |
PMID:23051042 |
RGD:155582214 |
NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280
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G |
Mir193a |
microRNA 193a |
|
ISO |
miRNA:decreased expression:blood plasma (human) |
RGD |
PMID:23051042 |
RGD:155582214 |
NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454
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G |
Mir210 |
microRNA 210 |
|
ISO |
associated with hereditary hemorrhagic telangiectasia; miRNA:increased expression:blood plasma (human) |
RGD |
PMID:23051042 |
RGD:155582214 |
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
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G |
Mir214 |
microRNA 214 |
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ISO |
miRNA:increased expression:blood plasma (human) |
RGD |
PMID:23051042 |
RGD:155582214 |
NCBI chr13:74,588,374...74,588,481
Ensembl chr13:74,588,372...74,588,481
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G |
Mir34a |
microRNA 34a |
|
ISO |
miRNA:increased expression:blood plasma (human) |
RGD |
PMID:23051042 |
RGD:155582214 |
NCBI chr 5:160,533,002...160,533,103
Ensembl chr 5:160,533,002...160,533,103
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G |
Mir486 |
microRNA 486 |
|
ISO |
miRNA:increased expression:blood plasma (human) |
RGD |
PMID:23051042 |
RGD:155582214 |
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
|
RGD |
PMID:16720380 |
RGD:1582655 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Rasa1 |
RAS p21 protein activator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:14639529 PMID:15917201 |
RGD:1581296 |
NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854
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G |
Tek |
TEK receptor tyrosine kinase |
susceptibility |
ISO |
DNA:missense mutation: :p.R849W |
RGD |
PMID:8980225 |
RGD:1578533 |
NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804
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G |
Acvrl1 |
activin A receptor like type 1 |
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ISS |
OMIM:108010 |
MouseDO |
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NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
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G |
Adgrv1 |
adhesion G protein-coupled receptor V1 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31277584 PMID:31779674 PMID:31891627 PMID:34476331 More...
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Cacna1h |
calcium voltage-gated channel subunit alpha1 H |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376
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G |
Cdh2 |
cadherin 2 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
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G |
Egfr |
epidermal growth factor receptor |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
Eng |
endoglin |
disease_progression |
ISO ISS |
DNA:polymorphism: : 207G>A(human) ClinVar Annotator: match by term: Cerebral arteriovenous malformation OMIM:108010 |
ClinVar MouseDO RGD |
PMID:15879500 PMID:25741868 PMID:28492532 PMID:30120215 PMID:24876084 PMID:24520391 More...
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RGD:11041171, RGD:11041564 |
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
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ISO |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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G |
Gli2 |
GLI family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Arteriovenous malformations of the brain |
ClinVar |
PMID:25741868 |
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NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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G |
Il17rd |
interleukin 17 receptor D |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901 |
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NCBI chr16:2,228,438...2,295,122
Ensembl chr16:2,228,287...2,292,556
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G |
Il6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD OMIM |
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NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Kdr |
kinase insert domain receptor |
|
ISO |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Kras |
KRAS proto-oncogene, GTPase |
|
ISO ISS |
ClinVar Annotator: match by term: Arteriovenous malformations of the brain OMIM:108010 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 PMID:12460918 PMID:12720172 PMID:14982869 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17056636 PMID:17324647 PMID:17332249 PMID:17384584 PMID:17409930 PMID:17704260 PMID:17910045 PMID:18316791 PMID:18456719 PMID:18628094 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19349489 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20652921 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:20949621 PMID:21079152 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22025163 PMID:22235099 PMID:22407852 PMID:22499344 PMID:22683711 PMID:22897852 PMID:23014527 PMID:23096712 PMID:23255105 PMID:23406027 PMID:24033266 PMID:24138715 PMID:24803665 PMID:25044103 PMID:25157968 PMID:25695684 PMID:25741868 PMID:26372703 PMID:28492532 PMID:29298116 PMID:29948256 PMID:30443000 PMID:31891627 More...
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NCBI chr 4:178,185,418...178,218,484
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G |
Lemd3 |
LEM domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474
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G |
Map4k4 |
mitogen-activated protein kinase kinase kinase kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 9:42,200,708...42,326,708
Ensembl chr 9:42,200,278...42,326,698
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G |
Notch4 |
notch receptor 4 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar RGD |
PMID:25741868 PMID:27231971 PMID:19546852 |
RGD:6480671 |
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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G |
Pdcd10 |
programmed cell death 10 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
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G |
Pitpnm3 |
PITPNM family member 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584
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G |
Prex2 |
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 5:7,937,692...8,253,112
Ensembl chr 5:7,942,573...8,253,068
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G |
Sars1 |
seryl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277
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G |
Scube2 |
signal peptide, CUB domain and EGF like domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 1:163,831,876...163,899,925
Ensembl chr 1:163,832,015...163,899,393
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G |
Syn3 |
synapsin III |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 7:16,216,055...17,808,790
Ensembl chr 7:17,376,372...17,808,790
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G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839
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G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
|
RGD |
PMID:16388189 |
RGD:1580567 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Zfyve16 |
zinc finger FYVE-type containing 16 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 2:23,713,018...23,757,576
Ensembl chr 2:23,713,766...23,756,990
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G |
Abcc8 |
ATP binding cassette subfamily C member 8 |
|
ISO |
ClinVar Annotator: match by term: Atrial septal defect |
ClinVar |
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 PMID:33565752 PMID:36208030 More...
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NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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G |
Actc1 |
actin, alpha, cardiac muscle 1 |
|
ISO |
ClinVar Annotator: match by term: Atrial septal defect |
ClinVar |
PMID:28492532 |
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NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523
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G |
Actl6a |
actin-like 6A |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect |
ClinVar |
PMID:25741868 PMID:28649782 |
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NCBI chr 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401
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G |
Bmp4 |
bone morphogenetic protein 4 |
susceptibility |
ISO |
DNA:SNP: :rs762642(human) |
RGD |
PMID:25022354 |
RGD:13442496 |
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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G |
Chd7 |
chromodomain helicase DNA binding protein 7 |
|
ISO |
ClinVar Annotator: match by term: Atrial septal defect |
ClinVar |
PMID:25741868 |
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NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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G |
Col5a2 |
collagen type V alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Atrial septal defect |
ClinVar |
PMID:25741868 |
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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 |
Crebbp |
CREB binding protein |
|
ISO |
ClinVar Annotator: match by term: Atrial septal defect |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29460469 PMID:30755392 |
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NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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G |
Dmd |
dystrophin |
|
ISO |
ClinVar Annotator: match by term: Atrial septal defect |
ClinVar |
PMID:25741868 |
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NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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G |
Erf |
Ets2 repressor factor |
|
ISO |
ClinVar Annotator: match by term: Atrial septal defect |
ClinVar |
PMID:25741868 |
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NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
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G |
Gata4 |
GATA binding protein 4 |
|
ISO |
DNA:missense mutation: :p.G21V (human) ClinVar Annotator: match by term: Atrial septal defect DNA:mutation:cds:p.G115W (human) |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:30755392 PMID:21373748 PMID:27418595 |
RGD:7207050, RGD:155883161 |
NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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G |
Hdac8 |
histone deacetylase 8 |
|
ISO |
ClinVar Annotator: match by term: Atrial septal defect |
ClinVar |
PMID:25741868 |
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NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923
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G |
Isl1 |
ISL LIM homeobox 1 |
susceptibility |
ISO |
DNA:SNP: :rs1017(human) |
RGD |
PMID:24634231 |
RGD:243049248 |
NCBI chr 2:48,079,412...48,090,704
Ensembl chr 2:48,080,522...48,095,584
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G |
Mn1 |
MN1 proto-oncogene, transcriptional regulator |
|
ISO |
ClinVar Annotator: match by term: Atrial septal defect |
ClinVar |
PMID:25741868 PMID:31834374 |
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NCBI chr12:45,181,794...45,220,959
Ensembl chr12:45,183,085...45,221,651
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G |
Myh6 |
myosin heavy chain 6 |
|
ISO |
DNA:missense mutation:p.I820N (human) ClinVar Annotator: match by term: Atrial septal defect CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:15735645 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28416588 PMID:28492532 PMID:28750076 PMID:15735645 More...
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RGD:1580922 |
NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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G |
Myh7 |
myosin heavy chain 7 |
|
ISO |
ClinVar Annotator: match by term: Atrial septal defect |
ClinVar |
|
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NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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G |
Mylk |
myosin light chain kinase |
|
ISO |
ClinVar Annotator: match by term: Atrial septal defect |
ClinVar |
PMID:21055718 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29543232 PMID:29544503 PMID:29961567 More...
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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 |
Nkx2-5 |
NK2 homeobox 5 |
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ISO |
DNA:frameshift mutation, missense mutations: :p.P43Gfs*59, p.C46W, p.S179F (human) ClinVar Annotator: match by term: Atrial septal defect DNA:frameshift mutation:exon:p.G206Fs*231 (human) |
ClinVar RGD |
PMID:10587520 PMID:18414213 PMID:18976153 PMID:19181906 PMID:19464101 PMID:20981092 PMID:22995991 PMID:24033266 PMID:24376681 PMID:25741868 PMID:28492532 PMID:21188375 PMID:25742962 More...
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RGD:12914794, RGD:12914795 |
NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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G |
Pqbp1 |
polyglutamine binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16740914 |
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NCBI chr X:14,603,516...14,608,091
Ensembl chr X:14,603,539...14,608,087
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G |
Setbp1 |
SET binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect |
ClinVar |
PMID:25741868 |
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NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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G |
Sos1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
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ISO |
associated with Noonan Syndrome;DNA:missense mutations:CDS:multiple (human) |
RGD |
PMID:17143285 |
RGD:11063543 |
NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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G |
Tbx2 |
T-box transcription factor 2 |
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ISO |
DNA:SNP:promoter:rs4455026(c.‐1028G>C)(human) |
RGD |
PMID:30525309 |
RGD:401794416 |
NCBI chr10:70,679,670...70,688,868
Ensembl chr10:70,679,518...70,688,529
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G |
Tbx20 |
T-box transcription factor 20 |
susceptibility |
ISO |
DNA:SNPs, haplotype: (rs17675131, rs4720169) (human) |
RGD |
PMID:26675025 |
RGD:155882600 |
NCBI chr 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175
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G |
Zfpm2 |
zinc finger protein, multitype 2 |
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ISO |
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RGD |
PMID:25196150 |
RGD:155882481 |
NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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G |
Bmp2 |
bone morphogenetic protein 2 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect 1 |
ClinVar |
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NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
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G |
Ccn1 |
cellular communication network factor 1 |
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ISS |
OMIM:108800 |
MouseDO |
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NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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G |
Foxp1 |
forkhead box P1 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
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G |
Ntf3 |
neurotrophin 3 |
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ISS |
OMIM:108800 |
MouseDO |
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NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: ASD II |
ClinVar |
PMID:11992261 PMID:12325025 PMID:12634870 PMID:12717436 PMID:12960218 PMID:15001945 PMID:15240615 PMID:15604238 PMID:15928039 PMID:15985475 PMID:16263833 PMID:16358218 PMID:17020470 PMID:19020799 PMID:19352411 PMID:21407260 PMID:21533187 PMID:22465605 PMID:22711529 PMID:24033266 PMID:24803665 PMID:24935154 PMID:25533962 PMID:25741868 PMID:26817465 PMID:28492532 PMID:29555671 PMID:29907801 PMID:31560489 PMID:32164556 More...
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NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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G |
Tbx5 |
T-box transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect 1 |
ClinVar |
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NCBI chr12:36,686,344...36,739,253
Ensembl chr12:36,688,014...36,734,885
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Tgfb2 |
transforming growth factor, beta 2 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect 1 |
ClinVar |
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NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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Tpm1 |
tropomyosin 1 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect 1 |
ClinVar |
PMID:28359939 |
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NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
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Gata4 |
GATA binding protein 4 |
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ISO ISS |
OMIM:607941 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atrial septal defect 2 |
OMIM MouseDO CTD ClinVar |
PMID:9536098 PMID:12845333 PMID:15810002 PMID:15863664 PMID:17548362 PMID:17576681 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19678963 PMID:20347099 PMID:20659440 PMID:20854389 PMID:20874241 PMID:20981092 PMID:21110066 PMID:21519287 PMID:21637475 PMID:23138528 PMID:23626780 PMID:23696316 PMID:24033266 PMID:25741868 PMID:26490186 PMID:26997702 PMID:27374936 PMID:27391137 PMID:27535533 PMID:28132688 PMID:28492532 PMID:29377543 PMID:32719394 PMID:32748548 PMID:32992319 More...
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NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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Myh6 |
myosin heavy chain 6 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect 3 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11815426 PMID:15735645 PMID:15998695 PMID:16199547 PMID:17576681 PMID:20215591 PMID:20656787 PMID:21483645 PMID:21822268 PMID:22011241 PMID:22194935 PMID:23299917 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24082139 PMID:24120998 PMID:24123366 PMID:24503780 PMID:25163546 PMID:25351510 PMID:25741868 PMID:26085007 PMID:26220970 PMID:26272908 PMID:26458567 PMID:26656175 PMID:27483260 PMID:27532257 PMID:27788187 PMID:27789736 PMID:27930701 PMID:28082330 PMID:28087566 PMID:28255936 PMID:28416588 PMID:28492532 PMID:28518168 PMID:28600387 PMID:28750076 PMID:28771489 PMID:28797094 PMID:28798025 PMID:28902392 PMID:28991257 PMID:29247119 PMID:29255176 PMID:29332214 PMID:29368431 PMID:29420653 PMID:29582157 PMID:29687901 PMID:29875424 PMID:29907873 PMID:29915097 PMID:30293987 PMID:30403391 PMID:30471092 PMID:30716529 PMID:30847666 PMID:30975432 PMID:31308319 PMID:31376648 PMID:31513939 PMID:31729605 PMID:31737537 PMID:31847883 PMID:31983221 PMID:32004434 PMID:32512245 PMID:32746448 PMID:32880476 PMID:32969603 PMID:33325730 PMID:33500567 PMID:34088380 PMID:34298581 PMID:34426522 PMID:34598319 PMID:35026164 PMID:35208637 More...
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NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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Tbx20 |
T-box transcription factor 20 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atrial septal defect 4 |
OMIM CTD ClinVar |
PMID:17668378 PMID:18834961 PMID:19074289 PMID:19762328 PMID:25741868 PMID:27510170 PMID:27642787 PMID:28492532 PMID:28553164 PMID:29089047 PMID:29517769 PMID:30820038 More...
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NCBI chr 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175
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Actc1 |
actin, alpha, cardiac muscle 1 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect 5 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:10494087 PMID:10966831 PMID:11052860 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 PMID:16611632 PMID:17576681 PMID:17611253 PMID:17623677 PMID:17916152 PMID:17947298 PMID:18379140 PMID:18400036 PMID:18506004 PMID:18519860 PMID:18801786 PMID:19184181 PMID:19467449 PMID:19799913 PMID:20497191 PMID:20965760 PMID:21297463 PMID:21524215 PMID:21551322 PMID:21622575 PMID:21839045 PMID:22464770 PMID:22555271 PMID:22563033 PMID:23054336 PMID:24033266 PMID:24461919 PMID:24736382 PMID:25163546 PMID:25239116 PMID:25741868 PMID:27532257 PMID:27561770 PMID:28138913 PMID:28416588 PMID:28492532 PMID:28790153 PMID:28798025 PMID:29764897 PMID:30371277 PMID:30471092 PMID:30847666 PMID:31246743 PMID:31430208 PMID:31434612 PMID:32880476 PMID:33500567 PMID:34088380 PMID:34935411 More...
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NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523
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Tll1 |
tolloid-like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:mutation:cds:p.I263V (human) DNA:deletion|insertion|mutations:exons:multiple (human ClinVar Annotator: match by term: Atrial septal defect 6 |
OMIM CTD ClinVar RGD |
PMID:10331975 PMID:18830233 PMID:25741868 PMID:31570783 PMID:27418595 PMID:18830233 More...
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RGD:155883161, RGD:155882583 |
NCBI chr16:25,509,146...25,710,330
Ensembl chr16:25,509,146...25,709,543
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G |
Atp6v0e1 |
ATPase H+ transporting V0 subunit e1 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome |
ClinVar |
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 |
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NCBI chr10:16,479,656...16,502,732
Ensembl chr10:16,479,567...16,524,434
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G |
Bnip1 |
BCL2 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome |
ClinVar |
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 |
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NCBI chr10:16,386,876...16,399,124
Ensembl chr10:16,386,841...16,399,157
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G |
Crebrf |
CREB3 regulatory factor |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome |
ClinVar |
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 |
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NCBI chr10:16,399,170...16,479,650
Ensembl chr10:16,404,596...16,461,999
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G |
Dusp1 |
dual specificity phosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome |
ClinVar |
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 |
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NCBI chr10:16,680,478...16,683,275
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G |
Ergic1 |
endoplasmic reticulum-golgi intermediate compartment 1 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome |
ClinVar |
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 |
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NCBI chr10:16,531,192...16,626,974
Ensembl chr10:16,531,194...16,626,957
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Neurl1b |
neuralized E3 ubiquitin protein ligase 1B |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome |
ClinVar |
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 |
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NCBI chr10:16,754,002...16,785,049
Ensembl chr10:16,757,208...16,785,119
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Nkx2-5 |
NK2 homeobox 5 |
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ISO ISS |
ClinVar Annotator: match by term: Atrial septal defect 7 with or without atrioventricular conduction defects | ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome OMIM:108900 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:1260978 PMID:9651244 PMID:10021345 PMID:10587520 PMID:10903346 PMID:10943630 PMID:10948187 PMID:11714651 PMID:12074273 PMID:12112663 PMID:12414819 PMID:12798584 PMID:14607454 PMID:15161646 PMID:15342699 PMID:15364612 PMID:15689439 PMID:15810002 PMID:15917268 PMID:16418214 PMID:16896344 PMID:17544441 PMID:17891434 PMID:17891520 PMID:18414213 PMID:18976153 PMID:19073351 PMID:19181906 PMID:19464101 PMID:19533775 PMID:19678963 PMID:19933292 PMID:19948535 PMID:20022124 PMID:20456451 PMID:20725931 PMID:20807224 PMID:20981092 PMID:21091212 PMID:21110066 PMID:21561848 PMID:21677783 PMID:22179962 PMID:22920929 PMID:22995991 PMID:23285148 PMID:23661673 PMID:24033266 PMID:24376681 PMID:24880466 PMID:25028484 PMID:25205790 PMID:25319568 PMID:25741868 PMID:25742962 PMID:26014430 PMID:26146939 PMID:26334177 PMID:26467025 PMID:26805889 PMID:27013732 PMID:27152669 PMID:27788187 PMID:27855642 PMID:27904570 PMID:28166811 PMID:28302382 PMID:28341588 PMID:28455095 PMID:28492532 PMID:28536625 PMID:28690296 PMID:29037160 PMID:29368431 PMID:29568389 PMID:29745128 PMID:30240412 PMID:30354339 PMID:30508507 PMID:30611920 PMID:30982828 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884 PMID:33082984 PMID:33835496 PMID:34214246 More...
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NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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Rpl26l1 |
ribosomal protein L26 like 1 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome |
ClinVar |
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 |
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NCBI chr10:16,520,383...16,524,604
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Stc2 |
stanniocalcin 2 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome |
ClinVar |
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 |
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NCBI chr10:16,251,046...16,260,815
Ensembl chr10:16,250,853...16,262,973
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Bmp7 |
bone morphogenetic protein 7 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788
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G |
Cited2 |
Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atrial septal defect 8 |
OMIM CTD ClinVar |
PMID:16287139 PMID:25741868 |
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NCBI chr 1:12,312,426...12,314,869
Ensembl chr 1:12,312,160...12,314,897
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Gata6 |
GATA binding protein 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atrial septal defect 9 |
OMIM CTD ClinVar |
PMID:20631719 PMID:25741868 PMID:28492532 |
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NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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Atp6v0e1 |
ATPase H+ transporting V0 subunit e1 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects |
ClinVar |
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 |
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NCBI chr10:16,479,656...16,502,732
Ensembl chr10:16,479,567...16,524,434
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G |
Bnip1 |
BCL2 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects |
ClinVar |
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 |
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NCBI chr10:16,386,876...16,399,124
Ensembl chr10:16,386,841...16,399,157
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G |
Crebrf |
CREB3 regulatory factor |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects |
ClinVar |
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 |
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NCBI chr10:16,399,170...16,479,650
Ensembl chr10:16,404,596...16,461,999
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G |
Dusp1 |
dual specificity phosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects |
ClinVar |
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 |
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NCBI chr10:16,680,478...16,683,275
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G |
Ergic1 |
endoplasmic reticulum-golgi intermediate compartment 1 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects |
ClinVar |
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 |
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NCBI chr10:16,531,192...16,626,974
Ensembl chr10:16,531,194...16,626,957
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Neurl1b |
neuralized E3 ubiquitin protein ligase 1B |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects |
ClinVar |
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 |
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NCBI chr10:16,754,002...16,785,049
Ensembl chr10:16,757,208...16,785,119
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G |
Nkx2-5 |
NK2 homeobox 5 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects |
ClinVar |
PMID:1260978 PMID:9651244 PMID:10021345 PMID:10587520 PMID:10903346 PMID:10943630 PMID:10948187 PMID:11714651 PMID:12074273 PMID:12112663 PMID:12414819 PMID:12798584 PMID:14607454 PMID:15161646 PMID:15342699 PMID:15364612 PMID:15689439 PMID:15810002 PMID:15917268 PMID:16418214 PMID:16896344 PMID:17544441 PMID:17891434 PMID:17891520 PMID:18414213 PMID:18976153 PMID:19073351 PMID:19181906 PMID:19464101 PMID:19533775 PMID:19678963 PMID:19933292 PMID:19948535 PMID:20022124 PMID:20456451 PMID:20725931 PMID:20807224 PMID:20981092 PMID:21091212 PMID:21110066 PMID:21561848 PMID:21677783 PMID:22179962 PMID:22920929 PMID:22995991 PMID:23285148 PMID:23661673 PMID:24033266 PMID:24376681 PMID:24880466 PMID:25028484 PMID:25205790 PMID:25319568 PMID:25741868 PMID:25742962 PMID:26014430 PMID:26146939 PMID:26334177 PMID:26467025 PMID:26805889 PMID:27013732 PMID:27152669 PMID:27788187 PMID:27855642 PMID:27904570 PMID:28166811 PMID:28302382 PMID:28341588 PMID:28455095 PMID:28492532 PMID:28536625 PMID:28690296 PMID:29037160 PMID:29368431 PMID:29568389 PMID:29745128 PMID:30240412 PMID:30354339 PMID:30508507 PMID:30611920 PMID:30982828 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884 PMID:33082984 PMID:33835496 PMID:34214246 More...
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NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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G |
Rpl26l1 |
ribosomal protein L26 like 1 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects |
ClinVar |
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 |
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NCBI chr10:16,520,383...16,524,604
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G |
Stc2 |
stanniocalcin 2 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects |
ClinVar |
PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 |
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NCBI chr10:16,251,046...16,260,815
Ensembl chr10:16,250,853...16,262,973
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G |
Sos1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
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ISO |
DNA:missense mutation:CDS:p.E846K (mouse) |
RGD |
PMID:21041952 |
RGD:11064696 |
NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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G |
Bmp4 |
bone morphogenetic protein 4 |
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ISS |
OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 |
MouseDO |
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NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Ccn1 |
cellular communication network factor 1 |
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ISS ISO |
OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 |
MouseDO RGD |
PMID:17023674 |
RGD:329845526 |
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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G |
Chd7 |
chromodomain helicase DNA binding protein 7 |
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ISO |
ClinVar Annotator: match by term: AVC DEFECT |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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G |
Dnah11 |
dynein, axonemal, heavy chain 11 |
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ISS |
OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 |
MouseDO |
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NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
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G |
Eln |
elastin |
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ISO |
ClinVar Annotator: match by term: AVC DEFECT |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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G |
Foxp1 |
forkhead box P1 |
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ISO |
ClinVar Annotator: match by term: AVC DEFECT |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
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G |
Gata4 |
GATA binding protein 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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G |
Gata6 |
GATA binding protein 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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G |
Glyr1 |
glyoxylate reductase 1 homolog |
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ISS |
OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474 |
MouseDO |
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NCBI chr10:10,532,036...10,567,639
Ensembl chr10:10,532,154...10,567,637
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G |
Ift172 |
intraflagellar transport 172 |
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ISS |
OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 |
MouseDO |
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NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
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G |
Mks1 |
MKS transition zone complex subunit 1 |
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ISS |
OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 |
MouseDO |
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NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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G |
Nkx2-5 |
NK2 homeobox 5 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, somatic |
ClinVar |
PMID:15342699 PMID:15917268 |
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NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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G |
Nr1d2 |
nuclear receptor subfamily 1, group D, member 2 |
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ISS ISO |
OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 ClinVar Annotator: match by term: AVC DEFECT |
MouseDO ClinVar |
PMID:27058611 |
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NCBI chr15:7,524,257...7,550,553
Ensembl chr15:7,524,257...7,550,553
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G |
Shh |
sonic hedgehog signaling molecule |
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ISO |
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RGD |
PMID:19538633 |
RGD:12801428 |
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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G |
Smarcal1 |
Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 |
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ISO |
ClinVar Annotator: match by term: AVC DEFECT |
ClinVar |
PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259 More...
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NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
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G |
Tbx5 |
T-box transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: AVC DEFECT |
ClinVar |
PMID:25741868 |
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NCBI chr12:36,686,344...36,739,253
Ensembl chr12:36,688,014...36,734,885
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G |
Arpc4 |
actin related protein 2/3 complex, subunit 4 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,522,255...146,532,784
Ensembl chr 4:146,522,176...146,532,785
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G |
Atp2b2 |
ATPase plasma membrane Ca2+ transporting 2 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,894,602...147,208,060
Ensembl chr 4:146,896,332...147,140,665
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G |
Brk1 |
BRICK1 subunit of SCAR/WAVE actin nucleating complex |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:25516202 PMID:28492532 |
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NCBI chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856
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G |
Brpf1 |
bromodomain and PHD finger containing, 1 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,456,325...146,472,781
Ensembl chr 4:146,456,318...146,472,649
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G |
Camk1 |
calcium/calmodulin-dependent protein kinase I |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,481,196...146,492,039
Ensembl chr 4:146,481,196...146,492,081
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G |
Cav3 |
caveolin 3 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137
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G |
Cidec |
cell death-inducing DFFA-like effector c |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173
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G |
Cpne9 |
copine family member 9 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,429,961...146,454,335
Ensembl chr 4:146,430,792...146,454,333
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G |
Creld1 |
cysteine-rich with EGF-like domains 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 | ClinVar Annotator: match by term: CRELD1-related condition |
ClinVar OMIM |
PMID:11376440 PMID:12632326 PMID:15857420 PMID:17036335 PMID:21080147 PMID:23040494 PMID:24697899 PMID:24927998 PMID:25516202 PMID:25741868 PMID:28166811 PMID:28492532 More...
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NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499
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G |
Emc3 |
ER membrane protein complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:25516202 PMID:28492532 |
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NCBI chr 4:146,663,065...146,678,976
Ensembl chr 4:146,663,067...146,679,029
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G |
Fancd2 |
FA complementation group D2 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:25516202 PMID:28492532 |
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NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
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G |
Fancd2os |
FANCD2 opposite strand |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:25516202 PMID:28492532 |
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NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
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G |
Ghrl |
ghrelin and obestatin prepropeptide |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
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G |
Grm7 |
glutamate metabotropic receptor 7 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:143,730,862...144,613,230
Ensembl chr 4:143,731,259...144,612,344
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G |
Il17rc |
interleukin 17 receptor C |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,618,321...146,631,444
Ensembl chr 4:146,619,004...146,631,442
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G |
Il17re |
interleukin 17 receptor E |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,604,547...146,618,206
Ensembl chr 4:146,605,526...146,618,206
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G |
Irak2 |
interleukin-1 receptor-associated kinase 2 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,786,004...146,842,615
Ensembl chr 4:146,786,100...146,842,602
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G |
Jagn1 |
jagunal homolog 1 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288
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G |
Lhfpl4 |
LHFPL tetraspan subfamily member 4 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,317,110...146,340,073
Ensembl chr 4:146,313,541...146,340,463
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G |
Lmcd1 |
LIM and cysteine-rich domains 1 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:145,393,153...145,452,049
Ensembl chr 4:145,393,145...145,452,046
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G |
Mtmr14 |
myotubularin related protein 14 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,386,949...146,429,990
Ensembl chr 4:146,386,956...146,429,990
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G |
Ogg1 |
8-oxoguanine DNA glycosylase |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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G |
Oxtr |
oxytocin receptor |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674
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G |
Prrt3 |
proline-rich transmembrane protein 3 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:25516202 PMID:28492532 |
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NCBI chr 4:146,641,173...146,650,487
Ensembl chr 4:146,641,173...146,650,317
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G |
Rad18 |
RAD18 E3 ubiquitin protein ligase |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:145,735,654...145,821,102
Ensembl chr 4:145,735,654...145,821,069
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G |
Rpusd3 |
RNA pseudouridine synthase D3 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,553,743...146,562,789
Ensembl chr 4:146,558,562...146,562,794
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G |
Sec13 |
SEC13 homolog, nuclear pore and COPII coat complex component |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,877,739...146,891,130
Ensembl chr 4:146,875,524...146,891,173
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G |
Setd5 |
SET domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894
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G |
Slc6a1 |
solute carrier family 6 member 1 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:147,448,961...147,482,295
Ensembl chr 4:147,466,965...147,482,293
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G |
Slc6a11 |
solute carrier family 6 member 11 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:147,297,972...147,413,319
Ensembl chr 4:147,297,969...147,413,443
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G |
Srgap3 |
SLIT-ROBO Rho GTPase activating protein 3 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:145,839,369...146,070,556
Ensembl chr 4:145,840,078...146,070,575
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G |
Ssuh2 |
ssu-2 homolog |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:145,502,942...145,521,881
Ensembl chr 4:145,503,185...145,521,735
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G |
Tada3 |
transcriptional adaptor 3 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,510,213...146,521,975
Ensembl chr 4:146,510,246...146,521,590
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G |
Tatdn2 |
TatD DNase domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,845,156...146,865,708
Ensembl chr 4:146,845,156...146,860,897
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G |
Thumpd3 |
THUMP domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,185,422...146,209,802
Ensembl chr 4:146,185,503...146,211,246
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G |
Ttll3 |
tubulin tyrosine ligase like 3 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,532,958...146,558,425
Ensembl chr 4:146,533,953...146,557,889
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G |
Vhl |
von Hippel-Lindau tumor suppressor |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:25516202 PMID:28492532 |
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NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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G |
Gja1 |
gap junction protein, alpha 1 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect 3 |
ClinVar |
PMID:11470490 PMID:22090377 PMID:25741868 PMID:28492532 PMID:30653986 |
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NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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G |
Gata4 |
GATA binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect 4 |
OMIM ClinVar |
PMID:9536098 PMID:12845333 PMID:12939651 PMID:15235040 PMID:15863664 PMID:16199547 PMID:17352393 PMID:17576681 PMID:17592645 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19353638 PMID:19678963 PMID:19915893 PMID:20347099 PMID:20450724 PMID:20659440 PMID:20854389 PMID:20874241 PMID:20981092 PMID:21055141 PMID:21110066 PMID:21220346 PMID:21276881 PMID:21373748 PMID:21519287 PMID:21631294 PMID:21637475 PMID:21834050 PMID:21933911 PMID:22011241 PMID:22318994 PMID:22498567 PMID:22648249 PMID:23138528 PMID:23239632 PMID:23626780 PMID:23696316 PMID:24033266 PMID:24127225 PMID:24696446 PMID:25205790 PMID:25516202 PMID:25741868 PMID:26014430 PMID:26490186 PMID:26997702 PMID:27139165 PMID:27374936 PMID:27391137 PMID:27418595 PMID:27426723 PMID:27535533 PMID:27810688 PMID:27899157 PMID:28132688 PMID:28161810 PMID:28471988 PMID:28492532 PMID:28798025 PMID:29368431 PMID:29377543 PMID:29670578 PMID:29735817 PMID:30152191 PMID:30293987 PMID:30455927 PMID:30755392 PMID:31322791 PMID:31513339 PMID:32719394 PMID:32748548 PMID:32901917 PMID:32992319 PMID:33865372 PMID:35063694 More...
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NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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G |
Gata6 |
GATA binding protein 6 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect 5 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:19666519 PMID:20581743 PMID:20631719 PMID:22158542 PMID:22318994 PMID:22750565 PMID:23223019 PMID:24310933 PMID:25706805 PMID:25741868 PMID:27756709 PMID:28381408 PMID:28492532 PMID:28518168 PMID:28659821 PMID:28991257 PMID:29101065 PMID:31264968 PMID:31271559 PMID:32461654 More...
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NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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G |
Mib1 |
MIB E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect 5 |
ClinVar |
PMID:22318994 PMID:28492532 |
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NCBI chr18:1,802,519...1,926,988
Ensembl chr18:1,802,519...1,920,689
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G |
Mir1 |
microRNA 1 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect 5 |
ClinVar |
PMID:22318994 PMID:28492532 |
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NCBI chr18:1,887,537...1,887,623
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G |
Mir133a1 |
microRNA 133a-1 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect 5 |
ClinVar |
PMID:22318994 PMID:28492532 |
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NCBI chr18:1,885,082...1,885,168
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G |
Crebbp |
CREB binding protein |
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ISO |
ClinVar Annotator: match by term: Kabuki-like syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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G |
Hnrnpk |
heterogeneous nuclear ribonucleoprotein K |
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ISO |
ClinVar Annotator: match by term: AU-KLINE SYNDROME CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 PMID:28374925 PMID:28771707 PMID:29904177 PMID:30793470 PMID:30998304 PMID:32222014 PMID:36130591 More...
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NCBI chr17:6,262,936...6,275,001
Ensembl chr17:6,262,998...6,274,997
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G |
Med13l |
mediator complex subunit 13L |
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ISO |
ClinVar Annotator: match by term: Kabuki-like syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr12:37,807,596...38,004,886
Ensembl chr12:37,808,285...38,004,473
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G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115
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G |
Arhgap4 |
Rho GTPase activating protein 4 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,636,071...151,651,528
Ensembl chr X:151,632,454...151,651,128
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G |
Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
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G |
Atp6ap1 |
ATPase H+ transporting accessory protein 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,079,954...152,087,034
Ensembl chr X:152,079,865...152,087,034
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G |
Avpr2 |
arginine vasopressin receptor 2 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989
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G |
Bcap31 |
B-cell receptor-associated protein 31 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
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G |
Bgn |
biglycan |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461
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G |
Brcc3 |
BRCA1/BRCA2-containing complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080
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G |
Ccnq |
cyclin Q |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
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G |
Clic2 |
chloride intracellular channel 2 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355
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G |
Cmc4 |
C-X9-C motif containing 4 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160
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G |
Ctag2 |
cancer/testis antigen 2 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:143,531,907...143,533,201
Ensembl chr X:143,531,907...143,533,201
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G |
Dkc1 |
dyskerin pseudouridine synthase 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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G |
Dnase1l1 |
deoxyribonuclease 1-like 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria |
ClinVar |
PMID:1719174 PMID:9345098 PMID:9384614 PMID:9536098 PMID:10480214 PMID:11238270 PMID:11748843 PMID:11968085 PMID:14662265 PMID:15793838 PMID:16199547 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17576681 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22410210 PMID:23409742 PMID:23660394 PMID:24033266 PMID:24365856 PMID:24962355 PMID:25652404 PMID:25741868 PMID:26471271 PMID:26845103 PMID:28492532 PMID:29334594 PMID:31333075 PMID:31559736 PMID:31568572 More...
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NCBI chr X:152,056,942...152,065,518
Ensembl chr X:152,056,942...152,065,518
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G |
Dusp9 |
dual specificity phosphatase 9 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,351,897...151,355,822
Ensembl chr X:151,351,897...151,355,821
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G |
Emd |
emerin |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,038,990...152,042,190
Ensembl chr X:152,038,998...152,045,807
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G |
F8 |
coagulation factor VIII |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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G |
F8a1 |
coagulation factor VIII-associated 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,957,357...150,958,871
Ensembl chr X:150,916,679...150,960,168
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G |
Fam3a |
FAM3 metabolism regulating signaling molecule A |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,166,716...152,175,327
Ensembl chr X:152,165,535...152,175,362
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G |
Fam50a |
family with sequence similarity 50, member A |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,095,245...152,102,362
Ensembl chr X:152,095,245...152,102,362
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G |
Fkbp1a |
FKBP prolyl isomerase 1A |
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ISS |
OMIM:302060 |
MouseDO |
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NCBI chr 3:140,040,359...140,060,107
Ensembl chr 3:140,040,278...140,060,743
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Fundc2 |
FUN14 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria |
ClinVar |
PMID:1303182 PMID:5673160 PMID:6714978 PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15315792 PMID:16427346 PMID:16528451 PMID:16601897 PMID:16684786 PMID:18046504 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22293322 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:25741868 PMID:26471271 PMID:27535533 PMID:27880809 PMID:28492532 PMID:28583873 PMID:29300386 PMID:29334594 PMID:30097005 PMID:31609781 PMID:33069889 More...
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NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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G |
Gdi1 |
GDP dissociation inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,087,611...152,094,274
Ensembl chr X:152,087,444...152,094,272
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G |
H2ab3 |
H2A.B variant histone 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:82,362,531...82,363,105
Ensembl chr X:82,362,633...82,362,983
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G |
Haus7 |
HAUS augmin-like complex, subunit 7 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,154,979...151,174,441
Ensembl chr X:151,154,979...151,180,577
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G |
Hcfc1 |
host cell factor C1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171
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G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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G |
L1cam |
L1 cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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G |
Lage3 |
L antigen family, member 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632
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G |
Mecp2 |
methyl CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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G |
Mest |
mesoderm specific transcript |
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ISS |
OMIM:302060 |
MouseDO |
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NCBI chr 4:59,354,445...59,364,919
Ensembl chr 4:59,354,447...59,366,145
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G |
Mpp1 |
MAGUK p55 scaffold protein 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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G |
Mtcp1 |
mature T-cell proliferation 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:126,189...130,123
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G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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G |
Opn1mw |
opsin 1, medium wave sensitive |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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G |
Pdzd4 |
PDZ domain containing 4 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
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G |
Plxna3 |
plexin A3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
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G |
Plxnb3 |
plexin B3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674
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G |
Pnck |
pregnancy up-regulated nonubiquitous CaM kinase |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,369,406...151,373,508
Ensembl chr X:151,369,410...151,373,446
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G |
Pnma3 |
PNMA family member 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,906,080...150,912,674
Ensembl chr X:150,906,278...150,910,839
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G |
Pnma5 |
PNMA family member 5 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,880,865...150,882,789
Ensembl chr X:150,880,865...150,882,789
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G |
Pnma6e |
PNMA family member 6E |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,103,531...151,108,630
Ensembl chr X:151,103,755...151,106,037
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G |
Renbp |
renin binding protein |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
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G |
Rpl10 |
ribosomal protein L10 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761
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G |
Slc10a3 |
solute carrier family 10, member 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:152,154,757...152,158,563
Ensembl chr X:152,151,076...152,162,958
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G |
Slc6a8 |
solute carrier family 6 member 8 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
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G |
Srpk3 |
SRSF protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198
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G |
Ssr4 |
signal sequence receptor subunit 4 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202
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G |
Tafazzin |
tafazzin, phospholipid-lysophospholipid transacylase |
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ISO ISS |
OMIM:302060 ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria | ClinVar Annotator: match by term: MGA type II CTD Direct Evidence: marker/mechanism |
OMIM MouseDO ClinVar CTD |
PMID:972179 PMID:1719174 PMID:1998334 PMID:4685904 PMID:6142097 PMID:7616547 PMID:8042670 PMID:8434619 PMID:8630491 PMID:9332651 PMID:9345058 PMID:9345098 PMID:9382096 PMID:9382097 PMID:9384614 PMID:9536098 PMID:10480214 PMID:10484795 PMID:11238270 PMID:11735032 PMID:11748843 PMID:11896212 PMID:11968085 PMID:12032589 PMID:12468278 PMID:12529714 PMID:12930833 PMID:14654353 PMID:14662265 PMID:15098233 PMID:15793838 PMID:16199547 PMID:16427346 PMID:16548007 PMID:16601897 PMID:16684786 PMID:16873891 PMID:16880272 PMID:16906470 PMID:17241629 PMID:17394203 PMID:17576681 PMID:17846786 PMID:18430085 PMID:19037987 PMID:19396829 PMID:19438153 PMID:19619503 PMID:19648820 PMID:19700766 PMID:19846429 PMID:20530761 PMID:20730588 PMID:20812380 PMID:21300850 PMID:21659346 PMID:22281021 PMID:22382802 PMID:22410210 PMID:23031367 PMID:23206890 PMID:23345479 PMID:23361305 PMID:23409742 PMID:23606313 PMID:23656970 PMID:23660394 PMID:24033266 PMID:24342716 PMID:24365856 PMID:24813252 PMID:24887148 PMID:24962355 PMID:25112388 PMID:25185984 PMID:25652404 PMID:25741868 PMID:25941633 PMID:26350513 PMID:26471271 PMID:26724946 PMID:26845103 PMID:26895103 PMID:28123175 PMID:28183324 PMID:28492532 PMID:28855170 PMID:29077208 PMID:29089047 PMID:29247119 PMID:29334594 PMID:29476731 PMID:30122738 PMID:30471092 PMID:31333075 PMID:31559736 PMID:31568572 PMID:31647997 PMID:32619718 PMID:33500567 PMID:34906502 PMID:35104856 More...
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NCBI chr X:152,065,539...152,076,178
Ensembl chr X:152,065,609...152,074,001
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G |
Tex28 |
testis expressed 28 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
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G |
Tktl1 |
transketolase-like 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 |