RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | Cardiovascular Abnormalities |
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Accession: | DOID:9002682
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browse the term
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Definition: | Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS. |
Synonyms: | exact_synonym: | Cardiovascular Abnormality |
| related_synonym: | abnormality of cardiovascular system morphology |
| primary_id: | MESH:D018376; RDO:0000746 |
For additional species annotation, visit the
Alliance of Genome Resources.
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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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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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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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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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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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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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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...244,590,359
Ensembl chr 1:244,584,652...244,590,359
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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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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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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 |
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NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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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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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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Lipt1 |
lipoyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology |
ClinVar |
PMID:25741868 PMID:28492532 |
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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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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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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:28492532 |
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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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Nkx2-5 |
NK2 homeobox 5 |
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ISO |
ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology |
ClinVar |
PMID:18414213 PMID:19181906 PMID:28492532 |
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NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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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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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: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:24033266 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25326635 PMID:25326637 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28502725 PMID:29661094 PMID:29988677 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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Pten |
phosphatase and tensin homolog |
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ISO |
ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology |
ClinVar |
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:30614812 More...
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NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
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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: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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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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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 8:58,549,743...58,568,861
Ensembl chr 8:58,549,736...58,568,860
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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:8980225 PMID:10369874 PMID:19888299 PMID:25741868 PMID:26319232 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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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...136,134,295
Ensembl chr X:136,124,026...136,134,746
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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...244,590,359
Ensembl chr 1:244,584,652...244,590,359
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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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Colec10 |
collectin subfamily member 10 |
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ISO |
ClinVar Annotator: match by term: 3MC syndrome 3 |
ClinVar OMIM |
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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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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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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Fgd1 |
FYVE, RhoGEF and PH domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aarskog disease | 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:25741868 PMID:28492532 PMID:29276006 More...
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NCBI chr X:20,023,746...20,066,730
Ensembl chr X:20,023,746...20,066,566
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Tsr2 |
TSR2, ribosome maturation factor |
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ISO |
ClinVar Annotator: match by term: Aarskog syndrome |
ClinVar |
PMID:25741868 |
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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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Ankef1 |
ankyrin repeat and EF-hand domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More...
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NCBI chr 3:123,847,817...123,883,060
Ensembl chr 3:123,847,817...123,883,059
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Jag1 |
jagged canonical Notch ligand 1 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar Annotator: match by term: Arteriohepatic dysplasia CTD Direct Evidence: marker/mechanism DNA:insertion:exon:c.962_963insA (human) |
ClinVar 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:12022040 PMID:12239725 PMID:12244555 PMID:12297837 PMID:12442286 PMID:12497640 PMID:12649809 PMID:15358557 PMID:15712272 PMID:15772854 PMID:16199547 PMID:16575836 PMID:16875832 PMID:17241866 PMID:17576681 PMID:17720887 PMID:17949281 PMID:18660822 PMID:19058200 PMID:19780835 PMID:19948535 PMID:20301450 PMID:20437614 PMID:20586101 PMID:21532573 PMID:21752016 PMID:22040217 PMID:22382802 PMID:22487239 PMID:22488849 PMID:23891399 PMID:23956173 PMID:24033266 PMID:24748328 PMID:25260786 PMID:25525159 PMID:25676721 PMID:25741868 PMID:26076142 PMID:26548814 PMID:26633542 PMID:26760175 PMID:27256232 PMID:27760138 PMID:28166811 PMID:28372585 PMID:28492532 PMID:28695677 PMID:29187043 PMID:29483232 PMID:29555955 PMID:29783821 PMID:30074189 PMID:30293987 PMID:30651579 PMID:31343788 PMID:31475041 PMID:33433009 PMID:33532864 PMID:11745040 PMID:16875832 PMID:21714972 More...
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RGD:1580651, RGD:6482237, RGD:6482232 |
NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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Lamp5 |
lysosomal-associated membrane protein family, member 5 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More...
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NCBI chr 3:123,372,462...123,384,970
Ensembl chr 3:123,372,462...123,384,952
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Mkks |
MKKS centrosomal shuttling protein |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 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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Notch2 |
notch receptor 2 |
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ISO |
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OMIM RGD |
PMID:16773578 |
RGD:1580762 |
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Pak5 |
p21 (RAC1) activated kinase 5 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More...
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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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Plcb4 |
phospholipase C, beta 4 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 More...
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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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Slx4ip |
SLX4 interacting protein |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 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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Snap25 |
synaptosome associated protein 25 |
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ISO |
ClinVar Annotator: match by term: Alagille syndrome 1 |
ClinVar |
PMID:10213047 PMID:11180599 PMID:16575836 PMID:19058200 PMID:22382802 PMID:28492532 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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Kcnj2 |
potassium inwardly-rectifying channel, subfamily J, member 2 |
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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: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:16895905 PMID:17074642 PMID:17074643 PMID:17119796 PMID:17210839 PMID:17211524 PMID:17221872 PMID:17324964 PMID:17341397 PMID:17399642 PMID:17399643 PMID:17568571 PMID:17582433 PMID:17640933 PMID:17655675 PMID:18313615 PMID:18452873 PMID:18554214 PMID:19041665 PMID:19111761 PMID:19201608 PMID:19570891 PMID:19862833 PMID:19931173 PMID:20382953 PMID:20647529 PMID:20713726 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:23516313 PMID:23595086 PMID:23631430 PMID:23644778 PMID:23867365 PMID:24025405 PMID:24033266 PMID:24047492 PMID:24211314 PMID:24383070 PMID:24561538 PMID:24721648 PMID:24861851 PMID:25284084 PMID:25410959 PMID:25415519 PMID:25637381 PMID:25741868 PMID:25847018 PMID:26230511 PMID:26322597 PMID:26467025 PMID:26927354 PMID:26937109 PMID:27145478 PMID:27920829 PMID:28003625 PMID:28024840 PMID:28166811 PMID:28341588 PMID:28492532 PMID:28501311 PMID:28600387 PMID:29017447 PMID:29606556 PMID:29874177 PMID:29915097 PMID:30516834 PMID:31534214 More...
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NCBI chr10:96,060,849...96,071,401
Ensembl chr10:96,060,821...96,071,445
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Kcnj5 |
potassium inwardly-rectifying channel, subfamily J, member 5 |
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ISO |
ClinVar Annotator: match by term: Andersen Tawil syndrome |
ClinVar |
PMID:20560207 PMID:21311022 PMID:22203740 PMID:24574546 PMID:25741868 PMID:28492532 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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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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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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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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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 More...
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NCBI chr 3:124,406,794...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:16513807 PMID:16944272 PMID:17576681 PMID:23637863 PMID:23668869 PMID:23758643 PMID:24413922 PMID:24654934 PMID:25074460 PMID:25741868 PMID:26088551 PMID:28492532 PMID:29290338 PMID:29483232 PMID:29926981 PMID:31160754 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 |
Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Coarctation of aorta |
ClinVar |
PMID:16835904 PMID:24033266 PMID:25741868 |
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NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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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: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 |
ClinVar OMIM RGD |
PMID:9536098 PMID:16025100 PMID:16729972 PMID:17576681 PMID:17662764 PMID:18593716 PMID:20007775 PMID:21457232 PMID:23798201 PMID:24033266 PMID:24113472 PMID:24418111 PMID:24728327 PMID:25132448 PMID:25260786 PMID:25326637 PMID:25587027 PMID:25741868 PMID:25963545 PMID:26188975 PMID:26708639 PMID:26820064 PMID:27760138 PMID:28166811 PMID:28387797 PMID:28492532 PMID:29907982 PMID:29924900 PMID:30609409 PMID:31633846 PMID:31654484 PMID:31866570 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 |
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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 8:37,119,966...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: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar RGD |
PMID:25741868 PMID:28492532 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: Cardiomyopathy, arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:21898660 PMID:23861362 PMID:25741868 PMID:28492532 PMID:29382405 PMID:30615648 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 dysplasia |
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 cardiomyopathy |
ClinVar |
PMID:25741868 |
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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) ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar RGD |
PMID:10717012 PMID:10905661 PMID:14991347 PMID:15050448 PMID:21262226 PMID:22153487 PMID:23425003 PMID:24033266 PMID:25179549 PMID:25741868 PMID:27532257 PMID:27854218 PMID:28492532 PMID:31718026 PMID:33023321 PMID:29212896 More...
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RGD:13525009 |
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 |
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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: Cardiomyopathy, arrhythmogenic right ventricular dysplasia |
ClinVar |
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:21062920 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21859740 PMID:23147450 PMID:23299917 PMID:23396983 PMID:23757202 PMID:23861362 PMID:23863954 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24503780 PMID:24704780 PMID:24967631 PMID:25163546 PMID:25351510 PMID:25447171 PMID:25569433 PMID:25637381 PMID:25741868 PMID:26138720 PMID:26656175 PMID:26743238 PMID:27153395 PMID:28255936 PMID:28471438 PMID:28492532 PMID:28798025 PMID:29367541 PMID:29802319 PMID:31024045 PMID:31333075 PMID:31402444 PMID:31568572 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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G |
Dsg2 |
desmoglein 2 |
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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:2040044 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: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:25087486 PMID:25172079 PMID:25213555 PMID:25332820 PMID:25445213 PMID:25525159 PMID:25637381 PMID:25741868 PMID:25765472 PMID:25820315 PMID:26138720 PMID:26230511 PMID:26899768 PMID:27194543 PMID:27532257 PMID:27930701 PMID:28166811 PMID:28255936 PMID:28283360 PMID:28341588 PMID:28471438 PMID:28492532 PMID:28578331 PMID:28818065 PMID:29038103 PMID:29062102 PMID:29178656 PMID:29544605 PMID:30454721 PMID:30790397 PMID:30885746 PMID:31019283 PMID:31333075 PMID:31386562 PMID:31402444 PMID:31542937 PMID:31568572 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 cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Cardiomyopathy, 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:16061754 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:22555271 PMID:22949226 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: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:26656175 PMID:26850880 PMID:26899768 PMID:27000522 PMID:27097650 PMID:27153395 PMID:27435932 PMID:27532257 PMID:27831900 PMID:28074886 PMID:28087426 PMID:28166811 PMID:28254189 PMID:28416588 PMID:28473349 PMID:28492532 PMID:28527814 PMID:28588093 PMID:28759816 PMID:28798025 PMID:29062697 PMID:29253866 PMID:29892087 PMID:30354334 PMID:30775854 PMID:31264976 PMID:31386562 PMID:31402444 PMID:31447099 PMID:31737537 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...45,462,530
Ensembl chr 9:45,388,981...45,431,192
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G |
Gja1 |
gap junction protein, alpha 1 |
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ISO |
protein:altered expression:ventricle protein:decreased expression:buccal mucosa |
RGD |
PMID:23178689 PMID:26850880 |
RGD:11352402, 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 Annotator: match by term: Cardiomyopathy, ARVC |
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 RGD |
PMID:24033266 PMID:24884844 PMID:25741868 PMID:28098346 PMID:28492532 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: Arrhythmogenic right ventricular cardiomyopathy |
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 |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 |
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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 cardiomyopathy |
ClinVar |
PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 |
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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 |
|
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:31829210 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 |
Myh6 |
myosin heavy chain 6 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28991257 |
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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 cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:7731997 PMID:7796500 PMID:8483915 PMID:8541871 PMID:9172070 PMID:10024460 PMID:10725281 PMID:12974739 PMID:16650083 PMID:17125710 PMID:17192269 PMID:17703256 PMID:19150014 PMID:20031618 PMID:21310275 PMID:21674835 PMID:22429680 PMID:22765922 PMID:23074333 PMID:23283745 PMID:23816408 PMID:23861362 PMID:24033266 PMID:24093860 PMID:24111713 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25611685 PMID:25741868 PMID:27247418 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 cardiomyopathy |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 PMID:28611029 |
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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 cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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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 right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia/cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Cardiomyopathy, arrhythmogenic right ventricular dysplasia |
ClinVar RGD |
PMID:2412583 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: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:20646679 PMID:20716751 PMID:20829228 PMID:20857253 PMID:20864495 PMID:21062920 PMID:21301620 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21822014 PMID:21859740 PMID:22019812 PMID:22036071 PMID:22085907 PMID:22177269 PMID:22214898 PMID:22781308 PMID:23137101 PMID:23178689 PMID:23270881 PMID:23299917 PMID:23347029 PMID:23514727 PMID:23671136 PMID:23810883 PMID:23810894 PMID:23812740 PMID:23861362 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:24704780 PMID:24784157 PMID:24832006 PMID:24967631 PMID:25087486 PMID:25163546 PMID:25332820 PMID:25351510 PMID:25445213 PMID:25447171 PMID:25525159 PMID:25616645 PMID:25637381 PMID:25676813 PMID:25741868 PMID:25741869 PMID:25765472 PMID:25820315 PMID:25825243 PMID:25825460 PMID:25857910 PMID:25979592 PMID:26264440 PMID:26332594 PMID:26406308 PMID:26498160 PMID:26656175 PMID:26676851 PMID:26743238 PMID:26850880 PMID:27153395 PMID:27194543 PMID:27335691 PMID:27532257 PMID:27727376 PMID:27930701 PMID:28069705 PMID:28177452 PMID:28253841 PMID:28255936 PMID:28301460 PMID:28341588 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:29288195 PMID:29582136 PMID:29802319 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: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:32600061 PMID:33087929 PMID:33232181 PMID:16567567 PMID:15489853 More...
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RGD:1580872, 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 |
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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 |
PMID:23396983 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26498160 PMID:26656175 PMID:27296017 PMID:28492532 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:16769042 PMID:18326664 PMID:19709828 PMID:19926015 PMID:21315846 PMID:22677073 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:27650965 PMID:28087566 PMID:28150229 PMID:28404607 PMID:28492532 PMID:29874177 PMID:31112425 PMID:31337358 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: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Cardiomyopathy, 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:28781330 PMID:29032884 PMID:29574140 PMID:30084490 PMID:31333075 PMID:31568572 PMID:33535892 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...79,922,813
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:20981092 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 chr10:57,795,785...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: 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: Cardiomyopathy, 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:28166811 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 Annotator: match by term: Arrhythmogenic right ventricular dysplasia |
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 cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia |
ClinVar |
PMID:21887725 PMID:25741868 PMID:26820365 PMID:28492532 PMID:30391667 |
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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: Right ventricular cardiomyopathy |
ClinVar |
PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25016126 PMID:25448463 PMID:25589632 PMID:25741868 PMID:26467025 PMID:26498160 PMID:26516846 PMID:27662471 PMID:28492532 PMID:28750076 PMID:28771489 PMID:28857138 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:25741868 |
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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 1 | 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 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 |
PMID:24070718 PMID:25741868 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:30446606 PMID:30731207 PMID:30871747 PMID:30972196 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 |
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 |
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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 |
OMIM ClinVar |
PMID:12529708 PMID:15639475 PMID:16199547 PMID:23861362 PMID:25741868 PMID:25835445 PMID:26188975 PMID:28492532 PMID:29907982 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 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 |
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 ClinVar |
PMID:2040044 PMID:9536098 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: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:24125834 PMID:24238504 PMID:24436435 PMID:24503780 PMID:24585727 PMID:24704780 PMID:25059832 PMID:25087486 PMID:25172079 PMID:25174650 PMID:25213555 PMID:25332820 PMID:25351510 PMID:25445213 PMID:25525159 PMID:25637381 PMID:25741868 PMID:25765472 PMID:25820315 PMID:25877686 PMID:26112015 PMID:26138720 PMID:26230511 PMID:26633542 PMID:26656175 PMID:26822237 PMID:26899768 PMID:27005929 PMID:27055156 PMID:27114410 PMID:27194543 PMID:27532257 PMID:27930701 PMID:28087566 PMID:28166811 PMID:28255936 PMID:28283360 PMID:28341588 PMID:28416588 PMID:28454995 PMID:28471438 PMID:28472724 PMID:28492532 PMID:28567303 PMID:28578331 PMID:28600387 PMID:28611029 PMID:28818065 PMID:29038103 PMID:29062102 PMID:29178656 PMID:29247119 PMID:29544605 PMID:29773157 PMID:29802319 PMID:30454721 PMID:30533233 PMID:30615648 PMID:30731207 PMID:30790397 PMID:30847666 PMID:30885746 PMID:30985088 PMID:30993396 PMID:31019283 PMID:31386562 PMID:31402444 PMID:31542937 PMID:31638835 PMID:33087929 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 |
Dsg3 |
desmoglein 3 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 |
ClinVar |
PMID:17105751 PMID:28492532 PMID:31386562 |
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NCBI chr18:11,798,905...11,833,415
Ensembl chr18:11,798,900...11,830,818
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G |
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 |
OMIM ClinVar |
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:23414727 PMID:23514727 PMID:23757202 PMID:23812740 PMID:23826350 PMID:23861362 PMID:23863954 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24503780 PMID:24704780 PMID:24832006 PMID:24967631 PMID:25163546 PMID:25351510 PMID:25390934 PMID:25447171 PMID:25516398 PMID:25525159 PMID:25569433 PMID:25576714 PMID:25637381 PMID:25741868 PMID:25819062 PMID:25820315 PMID:26138720 PMID:26220970 PMID:26498160 PMID:26656175 PMID:26743238 PMID:26780541 PMID:27000522 PMID:27153395 PMID:27532257 PMID:27884173 PMID:27930701 PMID:28153106 PMID:28166811 PMID:28255936 PMID:28416588 PMID:28471438 PMID:28492532 PMID:28600387 PMID:28798025 PMID:29032884 PMID:29178656 PMID:29367541 PMID:29641836 PMID:29750433 PMID:29802319 PMID:30847666 PMID:31024045 PMID:31333075 PMID:31386562 PMID:31397097 PMID:31402444 PMID:31534214 PMID:31568572 PMID:32665702 PMID:32746448 PMID:32853555 PMID:32880476 PMID:33087929 PMID:33684294 PMID:34135346 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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G |
Jup |
junction plakoglobin |
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ISO |
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 |
OMIM ClinVar |
PMID:10902626 PMID:16467215 PMID:19863551 PMID:20031617 PMID:20857253 PMID:20864495 PMID:21606396 PMID:21859740 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25351510 PMID:25616645 PMID:25741868 PMID:25765472 PMID:26073755 PMID:26220970 PMID:27532257 PMID:27662471 PMID:27930701 PMID:28166811 PMID:28341588 PMID:28471438 PMID:28492532 PMID:28831623 PMID:29247119 PMID:29334134 PMID:31275992 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 |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 13 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:21254927 PMID:22421363 PMID:23136403 PMID:23375656 PMID:25050139 PMID:25640679 PMID:25741868 PMID:27231342 PMID:27535533 PMID:28166811 PMID:28202948 PMID:28416588 PMID:28492532 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:28280076 |
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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 |
Ryr2 |
ryanodine receptor 2 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 2 |
OMIM ClinVar |
PMID:8589694 PMID:9536098 PMID:11159936 PMID:12106942 PMID:15364606 PMID:15364613 PMID:15466642 PMID:15544015 PMID:16188589 PMID:16239587 PMID:16272262 PMID:16769042 PMID:16873551 PMID:17062961 PMID:17558603 PMID:17576681 PMID:18326664 PMID:18752142 PMID:19398665 PMID:19597050 PMID:19709828 PMID:19926015 PMID:20106799 PMID:20157052 PMID:21315846 PMID:21454795 PMID:21616285 PMID:21659649 PMID:21964171 PMID:22221940 PMID:22222782 PMID:22373669 PMID:22374134 PMID:22396703 PMID:22677073 PMID:22787013 PMID:22828895 PMID:23022705 PMID:23204524 PMID:23286974 PMID:23396983 PMID:23595086 PMID:23820649 PMID:23861362 PMID:23871484 PMID:24025405 PMID:24033266 PMID:24055113 PMID:24136861 PMID:24503780 PMID:24558114 PMID:24631775 PMID:24978818 PMID:24981977 PMID:25041964 PMID:25087098 PMID:25092222 PMID:25163546 PMID:25193700 PMID:25351510 PMID:25440180 PMID:25467552 PMID:25637381 PMID:25650408 PMID:25741868 PMID:25844899 PMID:25925909 PMID:26114861 PMID:26132555 PMID:26153920 PMID:26189708 PMID:26272908 PMID:26332594 PMID:26498160 PMID:26633542 PMID:26656175 PMID:26704558 PMID:26743238 PMID:26899768 PMID:27054166 PMID:27153395 PMID:27194543 PMID:27229459 PMID:27231019 PMID:27482086 PMID:27538377 PMID:27727376 PMID:27756708 PMID:27930701 PMID:28150229 PMID:28166811 PMID:28237968 PMID:28255936 PMID:28404607 PMID:28422759 PMID:28449774 PMID:28492532 PMID:28600387 PMID:28807990 PMID:28988457 PMID:29247119 PMID:29434162 PMID:29453246 PMID:29511324 PMID:29544605 PMID:29555771 PMID:29874177 PMID:30086531 PMID:31112425 PMID:31337358 PMID:31847883 PMID:32233023 More...
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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 |
Tnni3k |
TNNI3 interacting kinase |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:243,737,346...244,005,319
Ensembl chr 2:243,710,950...244,005,268
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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 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18313022 PMID:18414213 PMID:19467449 PMID:20010364 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:26467025 PMID:26513349 PMID:26743238 PMID:26840987 PMID:27153395 PMID:27532257 PMID:28166811 PMID:28301460 PMID:28471438 PMID:28491673 PMID:28492532 PMID:28750076 PMID:29040414 PMID:29247119 PMID:29980933 PMID:30206291 PMID:30471092 PMID:30700137 PMID:30847666 PMID:31333075 PMID:31568572 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 |
Dsp |
desmoplakin |
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ISO |
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 ClinVar |
PMID:8769422 PMID:9229116 PMID:9536098 PMID:10395892 PMID:10594734 PMID:11063735 PMID:11278896 PMID:11841538 PMID:12373648 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:20716751 PMID:20738328 PMID:20829228 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:22406018 PMID:22555271 PMID:22949226 PMID:23137101 PMID:23292937 PMID:23299917 PMID:23381804 PMID:23396983 PMID:23465283 PMID:23514727 PMID:23524727 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: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:25820315 PMID:26073755 PMID:26138720 PMID:26148547 PMID:26187847 PMID:26220970 PMID:26230511 PMID:26314686 PMID:26332594 PMID:26383259 PMID:26399581 PMID:26406308 PMID:26498160 PMID:26569459 PMID:26585738 PMID:26604139 PMID:26656175 PMID:26688388 PMID:26735901 PMID:26743238 PMID:26833927 PMID:26850880 PMID:26899768 PMID:27000522 PMID:27097650 PMID:27153395 PMID:27194543 PMID:27329731 PMID:27332903 PMID:27435932 PMID:27532257 PMID:27698334 PMID:27707468 PMID:27831900 PMID:27884173 PMID:27930701 PMID:28074886 PMID:28087426 PMID:28152038 PMID:28166811 PMID:28254189 PMID:28255936 PMID:28301460 PMID:28341588 PMID:28416588 PMID:28442525 PMID:28471438 PMID:28472724 PMID:28473349 PMID:28492532 PMID:28527814 PMID:28588093 PMID:28611029 PMID:28759816 PMID:28798025 PMID:28912206 PMID:29062697 PMID:29247119 PMID:29253866 PMID:29420653 PMID:29511324 PMID:29606362 PMID:29750433 PMID:29759408 PMID:29802319 PMID:29892087 PMID:29915097 PMID:29997227 PMID:30012837 PMID:30165862 PMID:30286183 PMID:30354334 PMID:30382575 PMID:30731207 PMID:30775854 PMID:30820396 PMID:30847666 PMID:30919684 PMID:30975432 PMID:30993396 PMID:31028357 PMID:31118017 PMID:31194698 PMID:31264976 PMID:31317183 PMID:31319917 PMID:31333075 PMID:31386562 PMID:31402444 PMID:31447099 PMID:31514951 PMID:31568572 PMID:31737537 PMID:31983221 PMID:32005173 PMID:32593191 PMID:34213952 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 |
Tubb3 |
tubulin, beta 3 class III |
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
PMID:15489853 PMID:23911551 PMID:27030002 PMID:27066507 PMID:28416588 PMID:28492532 PMID:29038103 More...
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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 |
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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 |
Dsp |
desmoplakin |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
PMID:25741868 PMID:25820315 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 |
Fgd4 |
FYVE, RhoGEF and PH domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
PMID:15489853 PMID:23911551 PMID:27030002 PMID:27066507 PMID:28416588 PMID:28492532 PMID:29038103 More...
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NCBI chr11:84,399,885...84,551,013
Ensembl chr11:84,399,816...84,546,972
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G |
Lmna |
lamin A/C |
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
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 |
Pkp2 |
plakophilin 2 |
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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 |
OMIM ClinVar |
PMID:2163603 PMID:2412583 PMID:9536098 PMID:15489853 PMID:16101641 PMID:16199547 PMID:16415378 PMID:16549640 PMID:16567567 PMID:16774985 PMID:16893920 PMID:17010805 PMID:17041889 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:20573160 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:22781308 PMID:22889254 PMID:23137101 PMID:23178689 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: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: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:26220970 PMID:26230511 PMID:26264440 PMID:26332594 PMID:26406308 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:27335691 PMID:27532257 PMID:27711072 PMID:27727376 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:29178656 PMID:29221435 PMID:29247119 PMID:29288195 PMID:29343803 PMID:29497013 PMID:29511324 PMID:29540472 PMID:29582136 PMID:29802319 PMID:29940860 PMID:29997227 PMID:30161220 PMID:30279520 PMID:30354609 PMID:30385303 PMID:30445427 PMID:30562116 PMID:30571190 PMID:30615648 PMID:30656044 PMID:30662450 PMID:30677492 PMID:30700137 PMID:30764827 PMID:30765282 PMID:30790397 PMID:30821013 PMID:30847666 PMID:30985088 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:32183154 PMID:32372669 PMID:32600061 PMID:32880476 PMID:32906206 PMID:33087929 PMID:33232181 PMID:34540771 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:24503780 PMID:25741868 PMID:27532257 PMID:28492532 More...
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NCBI chr 4:10,010,574...10,252,152
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 9 |
ClinVar |
PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26567375 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 |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 |
ClinVar |
PMID:15489853 PMID:23911551 PMID:27030002 PMID:27066507 PMID:28416588 PMID:28492532 PMID:29038103 More...
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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 |
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 |
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ISO |
ClinVar Annotator: match by term: Arterial tortuosity syndrome |
OMIM ClinVar |
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:23142374 PMID:23410549 PMID:23494979 PMID:24033266 PMID:25373504 PMID:25741868 PMID:25944730 PMID:26376865 PMID:28492532 PMID:28726533 PMID:28855619 PMID:29323665 PMID:29543232 PMID:29907982 PMID:30090112 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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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 |
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IEP |
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RGD |
PMID:24429330 |
RGD:9681736 |
NCBI chr13:85,782,396...85,786,002
Ensembl chr13:85,782,398...85,783,983
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G |
Angpt2 |
angiopoietin 2 |
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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 |
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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 |
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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 |
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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 |
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IEP |
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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 |
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ISO |
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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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Mmp9 |
matrix metallopeptidase 9 |
treatment |
IEP ISO |
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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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Nos3 |
nitric oxide synthase 3 |
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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 |
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 |
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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 |
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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 |
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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 |
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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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Glmn |
glomulin, FKBP associated protein |
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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 |
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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 |
Mmp9 |
matrix metallopeptidase 9 |
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ISO |
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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 |
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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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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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Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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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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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 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr14:91,176,931...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:25741868 PMID:24876084 PMID:24520391 |
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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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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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 chr13:29,946,809...30,163,901
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 chr16:2,228,467...2,295,126
Ensembl chr16:2,228,287...2,292,556
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G |
Il6 |
interleukin 6 |
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ISO |
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
OMIM ClinVar |
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17704260 PMID:17910045 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 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:23406027 PMID:24033266 PMID:25044103 PMID:25157968 PMID:25695684 PMID:25741868 PMID:26372703 PMID:28492532 PMID:29298116 PMID:30443000 PMID:31891627 More...
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NCBI chr 4:178,185,418...178,218,484
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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 |
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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 |
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ISO ISS |
OMIM:108010 |
MouseDO RGD |
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 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 PMID:28492532 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 7:17,520,827...17,571,871
Ensembl chr 7:17,521,919...17,571,839
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G |
Vegfa |
vascular endothelial growth factor A |
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ISO |
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect |
ClinVar |
PMID:25741868 |
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NCBI chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510
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G |
Actc1 |
actin, alpha, cardiac muscle 1 |
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect |
ClinVar |
PMID:25741868 |
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NCBI chr 9:47,448,736...47,598,396
Ensembl chr 9:47,448,736...47,598,154
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G |
Crebbp |
CREB binding protein |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect |
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 |
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 |
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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 |
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ISO |
DNA:missense mutation: :p.G21V (human) ClinVar Annotator: match by term: Atrial septal defect |
ClinVar RGD |
PMID:25741868 PMID:21373748 |
RGD:7207050 |
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 |
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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 |
Mn1 |
MN1 proto-oncogene, transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect |
ClinVar |
PMID:25741868 PMID:31834374 |
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NCBI chr12:45,184,060...45,220,102
Ensembl chr12:45,183,085...45,221,651
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G |
Myh6 |
myosin heavy chain 6 |
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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:24033266 PMID:25741868 PMID:28416588 PMID:28492532 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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Myh7 |
myosin heavy chain 7 |
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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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Mylk |
myosin light chain kinase |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect |
ClinVar |
PMID:21055718 PMID:24033266 PMID:28492532 PMID:29543232 |
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NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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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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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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Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect |
ClinVar |
PMID:16835904 PMID:24033266 PMID:25741868 |
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NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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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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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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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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Foxp1 |
forkhead box P1 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect 1 |
ClinVar |
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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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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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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:12717436 PMID:12960218 PMID:15240615 PMID:15928039 PMID:15985475 PMID:16263833 PMID:16358218 PMID:17020470 PMID:19020799 PMID:19352411 PMID:21407260 PMID:22465605 PMID:22711529 PMID:24033266 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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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 |
ClinVar Annotator: match by term: Atrial septal defect 2 |
OMIM ClinVar |
PMID:12845333 PMID:15810002 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:24033266 PMID:25741868 PMID:26490186 PMID:26997702 PMID:27374936 PMID:27535533 PMID:28132688 PMID:28492532 PMID:29377543 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 |
OMIM ClinVar |
PMID:15735645 PMID:15998695 PMID:20215591 PMID:20656787 PMID:21483645 PMID:22011241 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24082139 PMID:24503780 PMID:25163546 PMID:25351510 PMID:25741868 PMID:26656175 PMID:27789736 PMID:28166811 PMID:28416588 PMID:28492532 PMID:28600387 PMID:28771489 PMID:28797094 PMID:28991257 PMID:29875424 PMID:31513939 PMID:32004434 PMID:34298581 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 |
ClinVar Annotator: match by term: Atrial septal defect 4 |
OMIM ClinVar |
PMID:17668378 PMID:19762328 PMID:25741868 PMID:28492532 |
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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 |
OMIM ClinVar |
PMID:17947298 PMID:22555271 PMID:23054336 PMID:24033266 PMID:25163546 PMID:25741868 PMID:27532257 PMID:28138913 PMID:28492532 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 |
ClinVar Annotator: match by term: Atrial septal defect 6 |
OMIM ClinVar |
PMID:10331975 PMID:18830233 PMID:25741868 PMID:31570783 |
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NCBI chr16:25,509,146...25,710,330
Ensembl chr16:25,509,146...25,709,543
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Nkx2-5 |
NK2 homeobox 5 |
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ISO |
ClinVar Annotator: match by term: ASD WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS | 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 ClinVar |
PMID:1260978 PMID:9651244 PMID:10021345 PMID:10587520 PMID:10903346 PMID:10943630 PMID:10948187 PMID:11714651 PMID:12414819 PMID:12798584 PMID:14607454 PMID:15342699 PMID:15364612 PMID:15689439 PMID:15810002 PMID:15917268 PMID:16418214 PMID:16896344 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: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:26805889 PMID:27013732 PMID:27152669 PMID:27904570 PMID:28166811 PMID:28492532 PMID:28536625 PMID:29037160 PMID:29745128 PMID:30240412 PMID:30611920 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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Cited2 |
Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 |
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ISO |
ClinVar Annotator: match by term: Atrial septal defect 8 |
OMIM 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 |
ClinVar Annotator: match by term: Atrial septal defect 9 |
OMIM 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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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:12414819 PMID:12798584 PMID:14607454 PMID:15342699 PMID:15364612 PMID:15689439 PMID:15810002 PMID:15917268 PMID:16418214 PMID:16896344 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: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:26805889 PMID:27013732 PMID:27152669 PMID:27904570 PMID:28166811 PMID:28492532 PMID:28536625 PMID:29037160 PMID:29745128 PMID:30240412 PMID:30611920 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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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 |
OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 |
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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Chd7 |
chromodomain helicase DNA binding protein 7 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular 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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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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Eln |
elastin |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal 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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Foxp1 |
forkhead box P1 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular canal 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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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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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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Gja1 |
gap junction protein, alpha 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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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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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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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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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: Atrioventricular septal 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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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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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: Atrioventricular septal 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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Tbx5 |
T-box transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Atrioventricular septal 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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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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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 4:146,896,332...147,140,665
Ensembl chr 4:146,896,332...147,140,665
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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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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 4:146,456,344...146,472,781
Ensembl chr 4:146,456,318...146,472,649
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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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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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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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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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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 |
OMIM ClinVar |
PMID:11376440 PMID:12632326 PMID:15857420 PMID:17036335 PMID:23040494 PMID:24697899 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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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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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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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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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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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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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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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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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 4:146,313,539...146,340,113
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,553,230...146,562,794
Ensembl chr 4:146,558,562...146,562,794
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G |
Sec13 |
SEC13 homolog, nuclear pore and COPII coat complex component |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
OMIM 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:20347099 PMID:20659440 PMID:20854389 PMID:20874241 PMID:20981092 PMID:21055141 PMID:21110066 PMID:21276881 PMID:21373748 PMID:21519287 PMID:21631294 PMID:21637475 PMID:21834050 PMID:21933911 PMID:22011241 PMID:22318994 PMID:22498567 PMID:22500510 PMID:22648249 PMID:23239632 PMID:23626780 PMID:23696316 PMID:24033266 PMID:24127225 PMID:25205790 PMID:25516202 PMID:25741868 PMID:26014430 PMID:26490186 PMID:26997702 PMID:27130165 PMID:27139165 PMID:27374936 PMID:27391137 PMID:27418595 PMID:27426723 PMID:27535533 PMID:27899157 PMID:28132688 PMID:28161810 PMID:28166811 PMID:28492532 PMID:28798025 PMID:29368431 PMID:29377543 PMID:30455927 PMID:31322791 PMID:32748548 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:20581743 PMID:20631719 PMID:22158542 PMID:23223019 PMID:24310933 PMID:25741868 PMID:27756709 PMID:28166811 PMID:28381408 PMID:28492532 PMID:28991257 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 |
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 |
OMIM ClinVar |
PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 PMID:28374925 PMID:28771707 PMID:29904177 PMID:30998304 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 |
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NCBI chr12:37,807,596...38,004,485
Ensembl chr12:37,808,285...38,004,473
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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 |
PMID:1719174 PMID:9345098 PMID:9536098 PMID:11238270 PMID:15793838 PMID:16199547 PMID:16427346 PMID:17576681 PMID:19396829 PMID:22382802 PMID:22410210 PMID:23409742 PMID:24033266 PMID:25652404 PMID:25741868 PMID:26845103 PMID:28492532 PMID:31333075 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 |
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 |
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 |
Tafazzin |
tafazzin, phospholipid-lysophospholipid transacylase |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1719174 PMID:1998334 PMID:4685904 PMID:6142097 PMID:7616547 PMID:8042670 PMID:8434619 PMID:8630491 PMID:9332651 PMID:9345098 PMID:9382096 PMID:9382097 PMID:9536098 PMID:10484795 PMID:11238270 PMID:11735032 PMID:12032589 PMID:12468278 PMID:12930833 PMID:14654353 PMID:15098233 PMID:15793838 PMID:16199547 PMID:16427346 PMID:16548007 PMID:16873891 PMID:16880272 PMID:17394203 PMID:17576681 PMID:18430085 PMID:19396829 PMID:19438153 PMID:19619503 PMID:19648820 PMID:19700766 PMID:20530761 PMID:20812380 PMID:21300850 PMID:22382802 PMID:22410210 PMID:23031367 PMID:23206890 PMID:23361305 PMID:23409742 PMID:23656970 PMID:24033266 PMID:24342716 PMID:24887148 PMID:25185984 PMID:25652404 PMID:25741868 PMID:25941633 PMID:26350513 PMID:26724946 PMID:26845103 PMID:28123175 PMID:28183324 PMID:28492532 PMID:29077208 PMID:29089047 PMID:29247119 PMID:31333075 PMID:31568572 PMID:34906502 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 |
Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations |
ClinVar |
PMID:15241795 PMID:16571647 PMID:16905551 PMID:17701892 PMID:18435798 PMID:19293843 PMID:19349279 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Thoc6 |
THO complex 6 |
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ISO |
ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome | ClinVar Annotator: match by term: Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations |
OMIM ClinVar |
PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 PMID:27102954 PMID:27295358 PMID:30238602 PMID:30476144 PMID:32790266 More...
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NCBI chr10:12,700,051...12,705,411
Ensembl chr10:12,700,051...12,706,925
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G |
Kat6b |
lysine acetyltransferase 6B |
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ISO |
DNA:mutations:cds:multiple (human) ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type |
ClinVar OMIM RGD |
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23236640 PMID:23436491 PMID:25326637 PMID:25424711 PMID:25741868 PMID:25741872 PMID:26334766 PMID:26938784 PMID:27696664 PMID:28492532 PMID:28758091 PMID:30353918 PMID:22077973 More...
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RGD:9588484 |
NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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G |
Smarca2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome |
ClinVar |
PMID:32694869 |
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NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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G |
Adnp2 |
ADNP homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,571,870...73,597,088
Ensembl chr18:73,571,936...73,628,484
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G |
Atp9b |
ATPase phospholipid transporting 9B (putative) |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:74,176,863...74,368,993
Ensembl chr18:74,176,863...74,368,953
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G |
Ctdp1 |
CTD phosphatase subunit 1 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457
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G |
Galr1 |
galanin receptor 1 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:75,772,021...75,787,577
Ensembl chr18:75,772,023...75,787,577
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G |
Hsbp1l1 |
heat shock factor binding protein 1-like 1 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,682,286...73,690,061
Ensembl chr18:73,682,286...73,688,045
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G |
Isca2 |
iron-sulfur cluster assembly 2 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 PMID:25539947 PMID:25558065 PMID:25741868 PMID:28492532 PMID:29122497 PMID:29297947 PMID:29470032 More...
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NCBI chr 6:104,418,509...104,420,019
Ensembl chr 6:104,418,454...104,420,045
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G |
Kcng2 |
potassium voltage-gated channel modifier subfamily G member 2 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,742,224...73,810,420
Ensembl chr18:73,743,074...73,808,723
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G |
Mbp |
myelin basic protein |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
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G |
Nfatc1 |
nuclear factor of activated T-cells 1 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:74,046,421...74,156,041
Ensembl chr18:74,046,904...74,156,028
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G |
Pard6g |
par-6 family cell polarity regulator gamma |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,498,119...73,565,048
Ensembl chr18:73,498,021...73,565,029
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G |
Rbfa |
ribosome binding factor A |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,639,260...73,648,942
Ensembl chr18:73,639,260...73,648,915
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G |
Sall3 |
spalt-like transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:74,406,058...74,425,754
Ensembl chr18:74,407,560...74,426,789
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G |
Slc66a2 |
solute carrier family 66 member 2 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:73,702,472...73,739,678
Ensembl chr18:73,702,564...73,739,676
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G |
Txnl4a |
thioredoxin-like 4A |
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ISO |
ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome |
OMIM ClinVar |
PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 |
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NCBI chr18:73,659,107...73,674,893
Ensembl chr18:73,659,107...73,674,893
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G |
Zfp236 |
zinc finger protein 236 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737
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G |
Zfp516 |
zinc finger protein 516 |
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ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
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NCBI chr18:76,286,453...76,386,526
Ensembl chr18:76,302,096...76,385,269
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G |
Ccnh |
cyclin H |
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ISO |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome |
ClinVar |
PMID:9536098 PMID:14639529 PMID:16199547 PMID:17576681 PMID:18446851 PMID:23687085 PMID:24038909 PMID:25741868 PMID:26499346 PMID:27535533 PMID:28166811 PMID:28295764 PMID:28492532 PMID:29024832 PMID:29120072 PMID:29891884 More...
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NCBI chr 2:15,834,833...15,855,643
Ensembl chr 2:15,834,833...15,855,819
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G |
Rasa1 |
RAS p21 protein activator 1 |
susceptibility |
ISO |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:9536098 PMID:14639529 PMID:16199547 PMID:17576681 PMID:18446851 PMID:23687085 PMID:24038909 PMID:25640679 PMID:25741868 PMID:26499346 PMID:27535533 PMID:28166811 PMID:28295764 PMID:28492532 PMID:29024832 PMID:29120072 PMID:29171923 PMID:29891884 PMID:30120215 PMID:14639529 More...
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RGD:734495 |
NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854
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G |
Stambp |
Stam binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23542699 |
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NCBI chr 4:116,055,563...116,083,563
Ensembl chr 4:116,056,057...116,080,543
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G |
Ccnh |
cyclin H |
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ISO |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 |
ClinVar |
PMID:14639529 PMID:18363760 PMID:18446851 PMID:23164092 PMID:24038909 PMID:25741868 PMID:26499346 PMID:27535533 PMID:28492532 PMID:29120072 More...
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NCBI chr 2:15,834,833...15,855,643
Ensembl chr 2:15,834,833...15,855,819
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G |
Kras |
KRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 |
ClinVar |
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17704260 PMID:17910045 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19358724 PMID:19679400 PMID:19773371 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:21079152 PMID:21228335 PMID:21975775 PMID:22025163 PMID:22407852 PMID:22499344 PMID:22683711 PMID:23014527 PMID:23096712 PMID:23406027 PMID:25044103 PMID:25157968 PMID:25695684 PMID:25741868 PMID:28492532 PMID:29298116 PMID:30443000 PMID:31891627 More...
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NCBI chr 4:178,185,418...178,218,484
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Rasa1 |
RAS p21 protein activator 1 |
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ISO |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 |
OMIM ClinVar |
PMID:14639529 PMID:18363760 PMID:18446851 PMID:23164092 PMID:24038909 PMID:25741868 PMID:26499346 PMID:27535533 PMID:28492532 PMID:29120072 More...
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NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854
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Ephb4 |
EPH receptor B4 |
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ISO |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 |
OMIM ClinVar |
PMID:21348050 PMID:25741868 PMID:28492532 PMID:28687708 PMID:28730721 PMID:29444212 PMID:30578106 More...
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NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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Slc12a9 |
solute carrier family 12, member 9 |
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ISO |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28687708 |
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NCBI chr12:19,368,990...19,385,881
Ensembl chr12:19,369,004...19,385,877
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Myrf |
myelin regulatory factor |
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ISO |
ClinVar Annotator: match by term: Cardiac-urogenital syndrome |
OMIM ClinVar |
PMID:25741868 PMID:29446546 PMID:30070761 PMID:30532227 PMID:34782754 |
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NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
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G |
Prkaca |
protein kinase cAMP-activated catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Cardioacrofacial dysplasia 1 |
OMIM ClinVar |
PMID:25741868 PMID:33058759 |
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NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430
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Prkacb |
protein kinase cAMP-activated catalytic subunit beta |
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ISO |
ClinVar Annotator: match by term: Cardioacrofacial dysplasia 2 |
ClinVar OMIM |
PMID:33058759 |
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NCBI chr 2:235,636,878...235,726,928
Ensembl chr 2:235,636,885...235,726,198
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
DNA:mutations:cds:multiple(human) ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome | ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome DNA:mutation:cds:p.Q241R(mouse) CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:4386970 PMID:5771505 PMID:8042262 PMID:12068308 PMID:12198537 PMID:12438234 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12692057 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14678966 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:16372351 PMID:16439621 PMID:16474404 PMID:16523510 PMID:16772349 PMID:16804887 PMID:16825433 PMID:17366577 PMID:17374713 PMID:17483702 PMID:17488796 PMID:17496923 PMID:17551924 PMID:17603483 PMID:17703371 PMID:17704260 PMID:17785355 PMID:18039235 PMID:18042262 PMID:18060073 PMID:18186519 PMID:18398503 PMID:18413255 PMID:18451217 PMID:18456719 PMID:18470943 PMID:18794803 PMID:18854871 PMID:18953432 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19206169 PMID:19238210 PMID:19376813 PMID:19404918 PMID:19416762 PMID:19537845 PMID:19561230 PMID:19571295 PMID:19735675 PMID:20008640 PMID:20141835 PMID:20186801 PMID:20301365 PMID:20350999 PMID:20395089 PMID:20413299 PMID:20523244 PMID:20619739 PMID:20630094 PMID:20735442 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21063443 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21784453 PMID:21871821 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22190897 PMID:22281684 PMID:22301711 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22495831 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22798288 PMID:22805292 PMID:22876591 PMID:22892241 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23093928 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23312806 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23564332 PMID:23614898 PMID:23680146 PMID:23685455 PMID:23715574 PMID:23763990 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23875798 PMID:23907581 PMID:23918947 PMID:23950000 PMID:23975261 PMID:24033266 PMID:24037001 PMID:24088041 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24283439 PMID:24303953 PMID:24388723 PMID:24409384 PMID:24446311 PMID:24451042 PMID:24458522 PMID:24508103 PMID:24512911 PMID:24524299 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:24719372 PMID:24775816 PMID:24800029 PMID:24803665 PMID:24918823 PMID:24920063 PMID:25024077 PMID:25035421 PMID:25037139 PMID:25079330 PMID:25155755 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25348715 PMID:25370471 PMID:25399551 PMID:25463315 PMID:25533962 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26242988 PMID:26472072 PMID:26582644 PMID:26619011 PMID:26633545 PMID:26678033 PMID:26732095 PMID:27146152 PMID:27236105 PMID:27276561 PMID:27322245 PMID:27404270 PMID:27478040 PMID:27480103 PMID:27521173 PMID:28404629 PMID:28492532 PMID:28524057 PMID:28650561 PMID:28687512 PMID:28854169 PMID:28891408 PMID:28911804 PMID:28947956 PMID:29084544 PMID:29493581 PMID:29533785 PMID:29752777 PMID:29907801 PMID:29925953 PMID:30290804 PMID:30581057 PMID:30820351 PMID:30986545 PMID:31263281 PMID:31277584 PMID:31474318 PMID:31560489 PMID:31779674 PMID:31891627 PMID:32810930 PMID:33683002 PMID:34476331 PMID:16474404 PMID:25035421 PMID:21383153 More...
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RGD:1600471, RGD:11352608, RGD:11567236 |
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Hras |
HRas proto-oncogene, GTPase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17703371 |
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NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Kras |
KRAS proto-oncogene, GTPase |
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ISO |
DNA:missense mutations:CDS:p.G60R, p.D153V (human) ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome | ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:16474404 PMID:16474405 PMID:16987887 PMID:17056636 PMID:17703371 PMID:17704260 PMID:17875937 PMID:18958496 PMID:19020799 PMID:20186801 PMID:20949621 PMID:21686179 PMID:21784453 PMID:21797849 PMID:23059812 PMID:23885229 PMID:24033266 PMID:24803665 PMID:25359213 PMID:25741868 PMID:26242988 PMID:27763634 PMID:28492532 PMID:28650561 PMID:29493581 PMID:29517769 PMID:16474404 More...
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RGD:1600471 |
NCBI chr 4:178,185,418...178,218,484
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Map2k1 |
mitogen activated protein kinase kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome |
CTD ClinVar |
PMID:1804226 PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 PMID:17366577 PMID:17551924 PMID:17567882 PMID:17703371 PMID:17704260 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18060073 PMID:18413255 PMID:18632602 PMID:18854871 PMID:19156172 PMID:19376813 PMID:19411838 PMID:19915144 PMID:20301365 PMID:20354455 PMID:21062266 PMID:21107320 PMID:22177953 PMID:22197931 PMID:22327936 PMID:22848035 PMID:23093928 PMID:23444215 PMID:23569304 PMID:24033266 PMID:24101678 PMID:24236184 PMID:24458522 PMID:24637312 PMID:24803665 PMID:25049390 PMID:25157968 PMID:25326635 PMID:25423878 PMID:25741868 PMID:26350204 PMID:26619011 PMID:26795593 PMID:27862862 PMID:28049852 PMID:28492532 PMID:29493581 PMID:29643386 PMID:29907801 PMID:30141192 PMID:30763456 PMID:31942422 PMID:31972311 PMID:33482860 More...
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NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
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Map2k2 |
mitogen activated protein kinase kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome |
CTD ClinVar |
PMID:16439621 PMID:17703371 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18413255 PMID:18456719 PMID:20358587 PMID:23885229 PMID:24033266 PMID:24265153 PMID:25487361 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29493581 PMID:33452774 More...
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NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
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Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome |
CTD ClinVar |
PMID:17703371 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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Rit1 |
Ras-like without CAAX 1 |
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ISO |
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
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Snapc5 |
small nuclear RNA activating complex, polypeptide 5 |
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ISO |
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome |
ClinVar |
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NCBI chr 8:64,677,204...64,680,769
Ensembl chr 8:64,677,205...64,681,964
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Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 |
OMIM ClinVar |
PMID:3265306 PMID:4386970 PMID:5771505 PMID:11313766 PMID:12068308 PMID:15035987 PMID:16007634 PMID:16372351 PMID:16439621 PMID:16474404 PMID:16523510 PMID:16804887 PMID:16825433 PMID:17366577 PMID:17437909 PMID:17483702 PMID:17496923 PMID:17551924 PMID:17603482 PMID:17603483 PMID:17703371 PMID:17704260 PMID:18039235 PMID:18042262 PMID:18186519 PMID:18413255 PMID:18451217 PMID:18456719 PMID:18470943 PMID:18794803 PMID:18854871 PMID:18953432 PMID:19206169 PMID:19376813 PMID:19416762 PMID:19537845 PMID:20186801 PMID:20224900 PMID:20301365 PMID:20350999 PMID:20523244 PMID:20859831 PMID:21063443 PMID:21129611 PMID:21784453 PMID:22190897 PMID:22301711 PMID:22310681 PMID:22495831 PMID:22698809 PMID:22876591 PMID:22907230 PMID:23093928 PMID:23273605 PMID:23312806 PMID:23564332 PMID:23644139 PMID:23875798 PMID:23950000 PMID:23975261 PMID:24033266 PMID:24037001 PMID:24088041 PMID:24283439 PMID:24409384 PMID:24446311 PMID:24451042 PMID:24524299 PMID:24719372 PMID:24728327 PMID:24775816 PMID:24800029 PMID:24803665 PMID:24920063 PMID:25035421 PMID:25157968 PMID:25463315 PMID:25533962 PMID:25741868 PMID:25754625 PMID:26242988 PMID:26361991 PMID:26472072 PMID:26582644 PMID:26619011 PMID:26633545 PMID:26732095 PMID:27146152 PMID:27276561 PMID:27322245 PMID:27329734 PMID:27391121 PMID:27478040 PMID:28404629 PMID:28492532 PMID:28512244 PMID:28650561 PMID:28687512 PMID:28911804 PMID:28947956 PMID:29084544 PMID:29522538 PMID:29533785 PMID:29907801 PMID:30290804 PMID:30414707 PMID:30581057 PMID:30732632 PMID:30986545 PMID:31263281 PMID:31474318 PMID:31560489 PMID:33040082 PMID:33683002 PMID:34113008 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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Kras |
KRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 |
ClinVar |
PMID:8234268 PMID:17056636 PMID:18958496 PMID:21784453 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr 4:178,185,418...178,218,484
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Map2k2 |
mitogen activated protein kinase kinase 2 |
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ISO |
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 |
ClinVar |
PMID:17366577 PMID:24719372 PMID:25326637 PMID:25741868 PMID:28492532 |
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NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 2 |
OMIM ClinVar |
PMID:7877967 PMID:8246952 PMID:12110640 PMID:14982869 PMID:16474404 PMID:16474405 PMID:16773572 PMID:17056636 PMID:17324647 PMID:17551339 PMID:17601930 PMID:17875937 PMID:17875939 PMID:18386799 PMID:18456719 PMID:18628094 PMID:20652921 PMID:20949621 PMID:21062266 PMID:21797849 PMID:21871821 PMID:23059812 PMID:24033266 PMID:24703799 PMID:24803665 PMID:25326637 PMID:25741868 PMID:26037647 PMID:26242988 PMID:28492532 PMID:28650561 PMID:29948256 More...
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NCBI chr 4:178,185,418...178,218,484
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Map2k1 |
mitogen activated protein kinase kinase 1 |
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ISO |
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 3 | ClinVar Annotator: match by term: MAP2K1-Related Disorder |
OMIM ClinVar |
PMID:1804226 PMID:12370306 PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 PMID:17366577 PMID:17551924 PMID:17567882 PMID:17704260 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18060073 PMID:18413255 PMID:18456719 PMID:18632602 PMID:18854871 PMID:19156172 PMID:19376813 PMID:19411838 PMID:19915144 PMID:20301365 PMID:21062266 PMID:21107320 PMID:22177953 PMID:22197931 PMID:22327936 PMID:22588879 PMID:22848035 PMID:23093928 PMID:23569304 PMID:24033266 PMID:24101678 PMID:24236184 PMID:24458522 PMID:24637312 PMID:24803665 PMID:25049390 PMID:25157968 PMID:25326635 PMID:25423878 PMID:25741868 PMID:25741869 PMID:26350204 PMID:26619011 PMID:26795593 PMID:27862862 PMID:28049852 PMID:28492532 PMID:29493581 PMID:29907801 PMID:30141192 PMID:30763456 PMID:31942422 PMID:31972311 PMID:33128510 PMID:33482860 More...
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NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
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Map2k2 |
mitogen activated protein kinase kinase 2 |
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ISO |
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 4 |
OMIM ClinVar |
PMID:15175348 PMID:16439621 PMID:17366577 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18413255 PMID:18456719 PMID:19156172 PMID:19376813 PMID:20358587 PMID:21178588 PMID:22753777 PMID:23885229 PMID:24033266 PMID:24265153 PMID:24719372 PMID:24803665 PMID:25326637 PMID:25487361 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29493581 PMID:29696744 PMID:30773290 More...
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NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
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G |
Ccdc32 |
coiled-coil domain containing 32 |
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ISO |
ClinVar Annotator: match by term: Cardiofacioneurodevelopmental syndrome |
OMIM ClinVar |
PMID:32307552 |
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NCBI chr 3:105,998,429...106,010,930
Ensembl chr 3:105,998,430...106,010,975
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G |
Dsp |
desmoplakin |
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ISO |
ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8769422 PMID:9229116 PMID:9536098 PMID:10594734 PMID:11063735 PMID:11278896 PMID:11841538 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:20716751 PMID:20738328 PMID:20829228 PMID:20864495 PMID:20940358 PMID:21062920 PMID:21193976 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21756917 PMID:21859740 PMID:22214898 PMID:22216297 PMID:22406018 PMID:22555271 PMID:22795705 PMID:22949226 PMID:23137101 PMID:23292937 PMID:23299917 PMID:23381804 PMID:23396983 PMID:23465283 PMID:23514727 PMID:23524727 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: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:25765472 PMID:25820315 PMID:26073755 PMID:26138720 PMID:26148547 PMID:26187847 PMID:26220970 PMID:26230511 PMID:26314686 PMID:26332594 PMID:26383259 PMID:26399581 PMID:26406308 PMID:26498160 PMID:26569459 PMID:26585738 PMID:26604139 PMID:26656175 PMID:26688388 PMID:26735901 PMID:26743238 PMID:26833927 PMID:26850880 PMID:26899768 PMID:27000522 PMID:27097650 PMID:27153395 PMID:27194543 PMID:27329731 PMID:27332903 PMID:27435932 PMID:27532257 PMID:27698334 PMID:27707468 PMID:27831900 PMID:27884173 PMID:27930701 PMID:28074886 PMID:28087426 PMID:28152038 PMID:28166811 PMID:28254189 PMID:28255936 PMID:28301460 PMID:28341588 PMID:28416588 PMID:28442525 PMID:28471438 PMID:28472724 PMID:28473349 PMID:28492532 PMID:28527814 PMID:28588093 PMID:28611029 PMID:28759816 PMID:28798025 PMID:28912206 PMID:29062697 PMID:29247119 PMID:29253866 PMID:29420653 PMID:29511324 PMID:29606362 PMID:29750433 PMID:29759408 PMID:29802319 PMID:29892087 PMID:29915097 PMID:29997227 PMID:30012837 PMID:30165862 PMID:30354334 PMID:30382575 PMID:30731207 PMID:30775854 PMID:30820396 PMID:30847666 PMID:30919684 PMID:30975432 PMID:30993396 PMID:31118017 PMID:31194698 PMID:31264976 PMID:31317183 PMID:31319917 PMID:31333075 PMID:31386562 PMID:31402444 PMID:31447099 PMID:31514951 PMID:31568572 PMID:31737537 PMID:31983221 PMID:32005173 PMID:32593191 PMID:34213952 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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Krit1 |
KRIT1, ankyrin repeat containing |
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ISO |
ClinVar Annotator: match by term: Cavernous malformations of CNS and retina |
ClinVar |
PMID:11831930 |
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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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Ephb4 |
EPH receptor B4 |
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ISO |
ClinVar Annotator: match by term: Lymphatic malformation 7 |
OMIM ClinVar |
PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29905864 |
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NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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Slc12a9 |
solute carrier family 12, member 9 |
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ISO |
ClinVar Annotator: match by term: Lymphatic malformation 7 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:19,368,990...19,385,881
Ensembl chr12:19,369,004...19,385,877
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Ccm2 |
CCM2 scaffold protein |
susceptibility |
ISO |
DNA:deletions: ; Cerebral cavernous malformations, OMIM:603284 |
RGD |
PMID:17160895 |
RGD:1600689 |
NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
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Col4a1 |
collagen type IV alpha 1 chain |
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ISO |
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RGD |
PMID:16598045 |
RGD:1581204 |
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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Ccnh |
cyclin H |
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ISO |
ClinVar Annotator: match by term: Cerebral venous angioma |
ClinVar |
PMID:23650393 PMID:25741868 PMID:31680349 |
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NCBI chr 2:15,834,833...15,855,643
Ensembl chr 2:15,834,833...15,855,819
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Rasa1 |
RAS p21 protein activator 1 |
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ISO |
ClinVar Annotator: match by term: Cerebral venous angioma |
ClinVar |
PMID:23650393 PMID:25741868 PMID:31680349 |
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NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854
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Akap9 |
A-kinase anchoring protein 9 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
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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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Ankib1 |
ankyrin repeat and IBR domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
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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Ccm2 |
CCM2 scaffold protein |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebral cavernous malformation |
CTD ClinVar |
PMID:18154020 PMID:25525273 PMID:25741868 PMID:28492532 |
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NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
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Cyp51 |
cytochrome P450, family 51 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
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NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
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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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Kdr |
kinase insert domain receptor |
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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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Krit1 |
KRIT1, ankyrin repeat containing |
susceptibility |
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11161805 PMID:11222804 PMID:11914398 PMID:11941540 PMID:11959162 PMID:12404106 PMID:12810002 PMID:12854741 PMID:14755725 PMID:15079030 PMID:16199547 PMID:17187287 PMID:17211633 PMID:17576681 PMID:18060436 PMID:18383588 PMID:19088123 PMID:19454328 PMID:20301470 PMID:20419355 PMID:20798775 PMID:21029238 PMID:23584803 PMID:23595507 PMID:24401931 PMID:24466005 PMID:24689081 PMID:24721395 PMID:25525273 PMID:25741868 PMID:26467025 PMID:27766163 PMID:28000143 PMID:28492532 PMID:28645800 PMID:28745674 PMID:30161288 PMID:31254430 PMID:33891857 PMID:14755725 PMID:15079030 More...
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RGD:1358458, RGD:1598379 |
NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359
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Lrrd1 |
leucine-rich repeats and death domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
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NCBI chr 4:30,263,147...30,293,119
Ensembl chr 4:30,264,862...30,293,173
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Notch3 |
notch receptor 3 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:28492532 |
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NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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Pdcd10 |
programmed cell death 10 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:15543491 PMID:18035376 PMID:18300272 PMID:23485406 PMID:23595507 PMID:23801932 PMID:25741868 PMID:26896283 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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Pon1 |
paraoxonase 1 |
susceptibility |
ISO |
DNA:missense mutations:cds:p.L55M, p.Q192R (human) |
RGD |
PMID:26122242 |
RGD:11552573 |
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Pten |
phosphatase and tensin homolog |
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ISO |
protein:decreased expression:brain (human) |
RGD |
PMID:19061355 |
RGD:12859036 |
NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
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Serpini1 |
serpin family I member 1 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
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NCBI chr 2:160,346,403...160,433,135
Ensembl chr 2:160,346,758...160,433,135
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Krit1 |
KRIT1, ankyrin repeat containing |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 1 |
OMIM ClinVar |
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11222804 PMID:11914398 PMID:11941540 PMID:12404106 PMID:12854741 PMID:14755725 PMID:17562932 PMID:19088123 PMID:19454328 PMID:20301470 PMID:24401931 PMID:25741868 PMID:26467025 PMID:28492532 More...
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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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Pdcd10 |
programmed cell death 10 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 1 |
ClinVar |
PMID:25741868 |
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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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Ccm2 |
CCM2 scaffold protein |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 2 |
OMIM ClinVar |
PMID:2468908 PMID:14624391 PMID:14740320 PMID:15122722 PMID:16199547 PMID:17160895 PMID:18060436 PMID:18300272 PMID:19088123 PMID:19088124 PMID:20419355 PMID:23595507 PMID:24466005 PMID:24689081 PMID:25525273 PMID:25741868 PMID:26467025 PMID:27153162 PMID:27561926 PMID:27792856 PMID:28492532 PMID:28655553 PMID:30161288 PMID:32860008 PMID:35307828 More...
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NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
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Nacad |
NAC alpha domain containing |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 2 |
ClinVar |
PMID:17160895 PMID:28492532 |
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NCBI chr14:81,465,299...81,473,866
Ensembl chr14:81,465,299...81,473,781
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Pdcd10 |
programmed cell death 10 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 3 |
OMIM ClinVar |
PMID:9536098 PMID:15543491 PMID:17576681 PMID:18035376 PMID:18060436 PMID:18300272 PMID:20623299 PMID:23485406 PMID:23595507 PMID:23801932 PMID:24466005 PMID:24689081 PMID:25122144 PMID:25354366 PMID:25741868 PMID:26246098 PMID:26896283 PMID:28492532 PMID:30161288 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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Serpini1 |
serpin family I member 1 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 3 |
ClinVar |
PMID:18060436 PMID:20623299 PMID:28492532 |
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NCBI chr 2:160,346,403...160,433,135
Ensembl chr 2:160,346,758...160,433,135
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Tfap2b |
transcription factor AP-2 beta |
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ISO |
ClinVar Annotator: match by term: Char syndrome |
OMIM ClinVar |
PMID:7645594 PMID:8326495 PMID:10368122 PMID:10802654 PMID:10955477 PMID:11505339 PMID:15684060 PMID:21643846 PMID:25741868 PMID:29555671 More...
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NCBI chr 9:21,786,250...21,815,785
Ensembl chr 9:21,786,258...21,814,520
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Pigl |
phosphatidylinositol glycan anchor biosynthesis, class L |
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ISO |
ClinVar Annotator: match by term: CHIME syndrome | ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome |
OMIM ClinVar |
PMID:3041916 PMID:7666399 PMID:8893234 PMID:18414213 PMID:22444671 PMID:23561846 PMID:24784135 PMID:25250048 PMID:25741868 PMID:28371479 PMID:28492532 More...
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NCBI chr10:47,142,160...47,199,892
Ensembl chr10:47,141,780...47,200,145
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Aff4 |
AF4/FMR2 family, member 4 |
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ISO |
ClinVar Annotator: match by term: COGNITIVE IMPAIRMENT, COARSE FACIES, HEART DEFECTS, OBESITY, PULMONARY INVOLVEMENT, SHORT STATURE, AND SKELETAL DYSPLASIA | ClinVar Annotator: match by term: Chops syndrome |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25730767 PMID:25741868 PMID:28166811 PMID:28492532 PMID:34782754 More...
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NCBI chr10:37,498,825...37,579,751
Ensembl chr10:37,498,825...37,579,751
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Ccdc116 |
coiled-coil domain containing 116 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:25741868 PMID:31690835 |
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NCBI chr11:83,842,707...83,850,607
Ensembl chr11:83,845,557...83,850,607
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Hic2 |
HIC ZBTB transcriptional repressor 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:25741868 |
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NCBI chr11:83,737,075...83,789,554
Ensembl chr11:83,738,874...83,767,484
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Mapk1 |
mitogen activated protein kinase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:25741868 PMID:31690835 |
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NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Mir130b |
microRNA 130b |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:25741868 PMID:31690835 |
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NCBI chr11:83,880,163...83,880,244
Ensembl chr11:83,880,163...83,880,244
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Ppil2 |
peptidylprolyl isomerase like 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:25741868 PMID:31690835 |
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NCBI chr11:83,897,719...83,920,970
Ensembl chr11:83,897,764...83,922,144
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Ppm1f |
protein phosphatase, Mg2+/Mn2+ dependent, 1F |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:25741868 PMID:31690835 |
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NCBI chr11:84,064,422...84,094,410
Ensembl chr11:84,064,420...84,094,340
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Prame |
PRAME nuclear receptor transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:25741868 PMID:31690835 |
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NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Rimbp3 |
RIMS binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:25741868 PMID:31690835 |
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NCBI chr11:83,783,816...83,789,391
Ensembl chr11:83,784,244...83,789,082
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Sdf2l1 |
stromal cell-derived factor 2-like 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
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