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: | hemorrhagic disease |
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Accession: | DOID:2213
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browse the term
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Definition: | Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS). |
Synonyms: | exact_synonym: | ABNORMAL BLEEDING; Hemorrhagic Diathesis; Hemorrhagic Disorder; hemorrhagic diatheses; hemorrhagic disorders |
| primary_id: | MESH:D006474 |
| xref: | ICD10CM:D69.9; ICD9CM:287.9 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Abcg5 |
ATP binding cassette subfamily G member 5 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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Abcg8 |
ATP binding cassette subfamily G member 8 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:28492532 |
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NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
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Actn1 |
actinin, alpha 1 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr 6:98,998,553...99,093,334
Ensembl chr 6:98,998,556...99,093,251
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Acvrl1 |
activin A receptor like type 1 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:24033266 PMID:28492532 |
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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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Adamts13 |
ADAM metallopeptidase with thrombospondin type 1 motif, 13 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
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Ankrd26 |
ankyrin repeat domain containing 26 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:151,670,604...151,740,032
Ensembl chr 4:151,672,037...151,739,968
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Ap3b1 |
adaptor related protein complex 3 subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32935436 |
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NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
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Ap3d1 |
adaptor related protein complex 3 subunit delta 1 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:28492532 |
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NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
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Arpc1b |
actin related protein 2/3 complex, subunit 1B |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 |
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NCBI chr12:9,482,176...9,495,772
Ensembl chr12:9,480,831...9,495,747
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Arvcf |
ARVCF, delta catenin family member |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr11:82,588,137...82,645,805
Ensembl chr11:82,587,881...82,645,805
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Col1a1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col5a1 |
collagen type V alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29924831 PMID:31064749 |
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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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Col5a2 |
collagen type V alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:28492532 |
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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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Comt |
catechol-O-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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Cycs |
cytochrome c, somatic |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
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Dgcr8 |
DGCR8 microprocessor complex subunit |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242
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Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr 6:9,992,537...10,025,403
Ensembl chr 6:9,992,541...10,025,336
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Etv6 |
ETS variant transcription factor 6 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
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F10 |
coagulation factor X |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:7669671 PMID:25582404 PMID:25741868 PMID:26879396 PMID:31064749 PMID:34355501 More...
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NCBI chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141
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F11 |
coagulation factor XI |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:2052060 PMID:2813350 PMID:10593931 PMID:11122101 PMID:15026311 PMID:15140127 PMID:15531455 PMID:16079124 PMID:16519703 PMID:16835901 PMID:18515884 PMID:20015217 PMID:21668437 PMID:23929304 PMID:24033266 PMID:24982842 PMID:25741868 PMID:28492532 PMID:31064749 PMID:34355501 More...
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NCBI chr16:46,986,107...47,009,015
Ensembl chr16:46,986,107...47,008,437
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F13a1 |
coagulation factor XIII A1 chain |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
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F5 |
coagulation factor V |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31064749 PMID:34355501 |
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NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
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F7 |
coagulation factor VII |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Abnormal bleeding |
CTD ClinVar |
PMID:7981691 PMID:10862079 PMID:11931672 PMID:15456489 PMID:15735798 PMID:16706976 PMID:18282149 PMID:22180436 PMID:25582404 PMID:25741868 PMID:28492532 PMID:31064749 More...
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NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
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F8 |
coagulation factor VIII |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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Fga |
fibrinogen alpha chain |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:237956 PMID:2738154 PMID:3345340 PMID:3590111 PMID:3618591 PMID:4052020 PMID:6191801 PMID:7298640 PMID:22880226 PMID:25741868 PMID:25816717 PMID:27684817 PMID:28101869 PMID:28211264 PMID:28492532 PMID:30332696 PMID:31064749 PMID:31924745 PMID:32166693 PMID:32877852 PMID:33668986 More...
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NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
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Fgb |
fibrinogen beta chain |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:10688828 PMID:19420351 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31064749 More...
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NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979
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Fgg |
fibrinogen gamma chain |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:10688828 PMID:15795540 PMID:21228398 PMID:23560673 PMID:24033266 PMID:24556703 PMID:25741868 PMID:26105150 PMID:28211264 PMID:28492532 PMID:29240685 PMID:30349899 PMID:30418131 PMID:30431218 PMID:30487145 PMID:30632992 PMID:31064749 PMID:31295712 PMID:31479941 More...
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NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
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Fli1 |
Fli-1 proto-oncogene, ETS transcription factor |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:24100448 PMID:32581362 |
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NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
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Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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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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Gba |
glucosylceramidase beta |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:2117855 PMID:2309702 PMID:2569551 PMID:3353383 PMID:7789963 PMID:8081401 PMID:8160756 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:9153297 PMID:9554746 PMID:9556036 PMID:10466427 PMID:10757640 PMID:10796875 PMID:12482401 PMID:12595585 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15605411 PMID:15826241 PMID:16293621 PMID:16981045 PMID:17395504 PMID:17427031 PMID:17875915 PMID:18332251 PMID:18338393 PMID:18434642 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20301446 PMID:20432762 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20816920 PMID:20837833 PMID:20846888 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21228398 PMID:21431620 PMID:21472771 PMID:21653695 PMID:21700325 PMID:21742527 PMID:21745757 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22388998 PMID:22451204 PMID:22592100 PMID:22623374 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:23277556 PMID:23430543 PMID:23588557 PMID:23642305 PMID:23676350 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24195576 PMID:24434810 PMID:24756352 PMID:25168325 PMID:25249066 PMID:25287185 PMID:25333069 PMID:25456120 PMID:25653295 PMID:25732996 PMID:25741868 PMID:25946768 PMID:26096741 PMID:26868973 PMID:26905200 PMID:27094865 PMID:27153395 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27632223 PMID:27735925 PMID:27872820 PMID:28492532 PMID:28779532 PMID:28834018 PMID:28923368 PMID:28966932 PMID:29029963 PMID:29140481 PMID:29431110 PMID:29487000 PMID:29527153 PMID:29625627 PMID:29842932 PMID:30146349 PMID:30216542 PMID:30302829 PMID:30364808 PMID:30487145 PMID:30528841 PMID:30606667 PMID:30609409 PMID:31188768 PMID:31996268 PMID:32042592 PMID:32658388 PMID:32714263 PMID:33223529 PMID:33281709 PMID:33473340 More...
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NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
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Gfi1b |
growth factor independent 1B transcriptional repressor |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
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Ggcx |
gamma-glutamyl carboxylase |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar RGD |
PMID:28492532 PMID:32935436 PMID:24520408 |
RGD:11040512 |
NCBI chr 4:104,469,737...104,485,631
Ensembl chr 4:104,469,765...104,487,063
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Gnas |
GNAS complex locus |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11583302 |
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NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Gnb1l |
G protein subunit beta 1 like |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
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Gp1ba |
glycoprotein Ib platelet subunit alpha |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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Gp1bb |
glycoprotein Ib platelet subunit beta |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
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Gp6 |
glycoprotein VI |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31064749 |
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NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326
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Hoxa11 |
homeobox A11 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
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Hps3 |
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
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Hps5 |
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:24033266 PMID:28492532 |
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NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019
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Hps6 |
HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:28492532 |
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NCBI chr 1:244,853,256...244,855,865
Ensembl chr 1:244,853,194...244,855,883
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Hrg |
histidine-rich glycoprotein |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr11:78,054,488...78,069,402
Ensembl chr11:78,054,498...78,069,389
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Itga2b |
integrin subunit alpha 2b |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
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Itgb3 |
integrin subunit beta 3 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31064749 |
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NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Klhl22 |
kelch-like family member 22 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770
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G |
Klkb1 |
kallikrein B1 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053
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Lyst |
lysosomal trafficking regulator |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480
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G |
Mcfd2 |
multiple coagulation factor deficiency 2 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr 6:7,274,469...7,285,841
Ensembl chr 6:7,274,469...7,285,841
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Mecom |
MDS1 and EVI1 complex locus |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
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Med12l |
mediator complex subunit 12L |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr 2:143,253,048...143,576,507
Ensembl chr 2:143,252,139...143,573,741
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Med15 |
mediator complex subunit 15 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362
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Mpig6b |
megakaryocyte and platelet inhibitory receptor G6b |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr20:3,757,396...3,761,024
Ensembl chr20:3,757,536...3,760,735
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Mpl |
MPL proto-oncogene, thrombopoietin receptor |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:11972523 PMID:16470591 PMID:21659346 PMID:24728327 PMID:25741868 PMID:28492532 PMID:28859041 More...
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NCBI chr 5:131,973,897...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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Myh9 |
myosin, heavy chain 9 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:10739770 PMID:10973259 PMID:10973260 PMID:11590545 PMID:12533692 PMID:15339844 PMID:16098078 PMID:17655694 PMID:18059020 PMID:21542825 PMID:22627578 PMID:23207509 PMID:24186861 PMID:25741868 PMID:26056797 PMID:28492532 PMID:29090586 PMID:34355501 More...
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NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Nbea |
neurobeachin |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr 2:139,780,021...140,338,639
Ensembl chr 2:139,780,021...140,340,584
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G |
Nbeal2 |
neurobeachin-like 2 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:110,603,220...110,633,612
Ensembl chr 8:110,599,389...110,633,707
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G |
P2ry12 |
purinergic receptor P2Y12 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
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G |
Pcid2 |
PCI domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr16:76,423,245...76,448,712
Ensembl chr16:76,423,245...76,448,712
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G |
Pi4ka |
phosphatidylinositol 4-kinase alpha |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr11:83,609,136...83,726,876
Ensembl chr11:83,609,069...83,724,080
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G |
Plat |
plasminogen activator, tissue type |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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G |
Plg |
plasminogen |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:28492532 PMID:34355501 |
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NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
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G |
Pros1 |
protein S |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:8943854 PMID:9651142 PMID:20880255 PMID:25741868 PMID:28492532 PMID:31064749 More...
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NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
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G |
Proz |
protein Z, vitamin K-dependent plasma glycoprotein |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr16:76,450,013...76,463,558
Ensembl chr16:76,450,013...76,463,480
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:4746100 PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:12717436 PMID:12960218 PMID:13908956 PMID:14974085 PMID:15001945 PMID:15240615 PMID:15248152 PMID:15539800 PMID:15723289 PMID:15834506 PMID:15929108 PMID:15956085 PMID:15987685 PMID:16078230 PMID:16124853 PMID:16263833 PMID:16358218 PMID:16377799 PMID:16399795 PMID:16498234 PMID:17020470 PMID:17143285 PMID:17339163 PMID:17515436 PMID:17546245 PMID:17661820 PMID:18253957 PMID:18331608 PMID:19061217 PMID:19077116 PMID:19133693 PMID:19352411 PMID:19509418 PMID:20308328 PMID:20979190 PMID:21340158 PMID:21407260 PMID:21567923 PMID:21590266 PMID:22190897 PMID:22465605 PMID:23297836 PMID:23726368 PMID:24033266 PMID:24072241 PMID:24628801 PMID:24803665 PMID:25326637 PMID:25741868 PMID:25912702 PMID:26372199 PMID:26467025 PMID:26645620 PMID:26785492 PMID:26817465 PMID:26918529 PMID:27117572 PMID:27521173 PMID:28135719 PMID:28483241 PMID:28492532 PMID:28650561 PMID:28957739 PMID:28991257 PMID:29214238 PMID:29263817 PMID:29493581 PMID:29848529 PMID:29907801 PMID:30287924 PMID:30294303 PMID:30355600 PMID:30417923 PMID:30604644 PMID:31219622 PMID:31560489 PMID:31637070 PMID:32581362 PMID:32860008 PMID:33091040 PMID:34008892 More...
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NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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G |
Ranbp1 |
RAN binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838
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G |
Rasgrp2 |
RAS guanyl releasing protein 2 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr 1:203,705,777...203,722,993
Ensembl chr 1:203,707,481...203,722,993
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G |
Rtn4r |
reticulon 4 receptor |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr11:82,844,585...82,869,012
Ensembl chr11:82,844,309...82,869,466
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G |
Runx1 |
RUNX family transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:17485549 PMID:17650443 PMID:19357396 PMID:25741868 PMID:26316320 PMID:27112265 PMID:27479822 PMID:28492532 PMID:31064749 PMID:32581362 More...
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NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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G |
Scarf2 |
scavenger receptor class F, member 2 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348
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G |
Septin5 |
septin 5 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393
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G |
Serpinc1 |
serpin family C member 1 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:1906811 PMID:2012760 PMID:8664906 PMID:9493570 PMID:12907439 PMID:19277409 PMID:20683322 PMID:23329010 PMID:24055113 PMID:25341889 PMID:25637381 PMID:25741868 PMID:28317092 PMID:28492532 PMID:29902631 More...
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NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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G |
Serpind1 |
serpin family D member 1 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
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G |
Serpine1 |
serpin family E member 1 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Serpinf2 |
serpin family F member 2 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243
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G |
Slc45a2 |
solute carrier family 45, member 2 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
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G |
Slfn14 |
schlafen family member 14 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:26280575 PMID:32581362 |
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NCBI chr10:68,076,326...68,087,794
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G |
Smad4 |
SMAD family member 4 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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G |
Stxbp2 |
syntaxin binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:24916509 PMID:25741868 PMID:28399723 PMID:28492532 |
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NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458
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G |
Tango2 |
transport and golgi organization 2 homolog |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
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G |
Tbx1 |
T-box transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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G |
Tbxa2r |
thromboxane A2 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19828703 |
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NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
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G |
Tbxas1 |
thromboxane A synthase 1 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:28492532 |
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NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096
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G |
Thbd |
thrombomodulin |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31064749 |
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NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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G |
Thpo |
thrombopoietin |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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Ensembl chr11:80,182,820...80,188,167
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G |
Tpm4 |
tropomyosin 4 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr16:17,684,415...17,698,456
Ensembl chr16:17,683,195...17,705,984
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G |
Trmt2a |
tRNA methyltransferase 2 homolog A |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336
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G |
Tubb1 |
tubulin, beta 1 class VI |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:18849486 PMID:25741868 PMID:32892537 PMID:33400601 |
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NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063
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G |
Txnrd2 |
thioredoxin reductase 2 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
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G |
Vps33b |
VPS33B, late endosome and lysosome associated |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:28492532 |
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NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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G |
Vwf |
von Willebrand factor |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:1301136 PMID:1302613 PMID:1581215 PMID:1832934 PMID:1906179 PMID:1906877 PMID:1918030 PMID:2018834 PMID:2104761 PMID:7620154 PMID:7734373 PMID:8165603 PMID:8367445 PMID:8500791 PMID:8865544 PMID:9684781 PMID:10845912 PMID:11686103 PMID:11776047 PMID:12211196 PMID:15461624 PMID:15670054 PMID:16706266 PMID:16953269 PMID:16985174 PMID:17087728 PMID:17190853 PMID:17200787 PMID:17681836 PMID:18315556 PMID:18384353 PMID:18712522 PMID:18805962 PMID:19277422 PMID:19404524 PMID:19566550 PMID:19951969 PMID:20301765 PMID:20409624 PMID:20586924 PMID:20981092 PMID:21371195 PMID:21429375 PMID:22197721 PMID:22315491 PMID:22329792 PMID:22578129 PMID:22875612 PMID:23340442 PMID:23349392 PMID:23426949 PMID:23636243 PMID:23648131 PMID:24029428 PMID:24033266 PMID:24700780 PMID:24928861 PMID:25185554 PMID:25696906 PMID:25741868 PMID:26200876 PMID:26207643 PMID:26467025 PMID:26879396 PMID:26986123 PMID:27320760 PMID:27443694 PMID:28581694 PMID:28971901 PMID:29924855 PMID:31064749 PMID:34355501 PMID:34662354 More...
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NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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G |
Was |
WASP actin nucleation promoting factor |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
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NCBI chr X:14,405,096...14,413,850
Ensembl chr X:14,405,124...14,413,849
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G |
Zdhhc8 |
zinc finger DHHC-type palmitoyltransferase 8 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734
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G |
Zim1 |
zinc finger, imprinted 1 |
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ISO |
ClinVar Annotator: match by term: Abnormal bleeding |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761
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G |
Plat |
plasminogen activator, tissue type |
treatment |
IDA IEP |
protein:increased expression:serum (rat) |
RGD |
PMID:25325345 PMID:25676919 |
RGD:11554179, RGD:11554180 |
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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G |
Serpinf2 |
serpin family F member 2 |
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ISO |
ClinVar Annotator: match by term: Alpha-2-plasmin inhibitor deficiency |
OMIM ClinVar |
PMID:2496145 PMID:7095605 PMID:10583218 |
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NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243
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G |
Adamts13 |
ADAM metallopeptidase with thrombospondin type 1 motif, 13 |
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ISO |
protein:decreased activity:serum (human) ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar RGD |
PMID:12753286 PMID:17187257 PMID:17627784 PMID:23715102 PMID:25741868 PMID:28492532 PMID:28748566 PMID:28866379 PMID:30046676 PMID:32183147 PMID:12640381 More...
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RGD:10449096 |
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
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G |
Baat |
bile acid CoA:amino acid N-acyltransferase |
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ISO |
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 |
ClinVar |
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NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685
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G |
C2 |
complement C2 |
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ISO |
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:24033266 PMID:24652797 PMID:25741868 PMID:28492532 More...
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NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
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G |
C3 |
complement C3 |
susceptibility |
ISO |
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 CTD Direct Evidence: marker/mechanism DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human) |
ClinVar CTD OMIM RGD |
PMID:1976733 PMID:14639503 PMID:17634448 PMID:18325906 PMID:18796626 PMID:19168221 PMID:19590060 PMID:20301541 PMID:20595690 PMID:21125405 PMID:23307876 PMID:23314101 PMID:23431077 PMID:24036949 PMID:24036950 PMID:24036952 PMID:24736606 PMID:24845532 PMID:25188723 PMID:25608561 PMID:25741868 PMID:25951460 PMID:26283675 PMID:26613027 PMID:28492532 PMID:28596415 PMID:29566171 PMID:29888403 PMID:30046676 PMID:30131807 PMID:30773290 PMID:32950058 PMID:33213850 PMID:17517971 PMID:20513133 More...
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RGD:7364995, RGD:11040768 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
C3ar1 |
complement C3a receptor 1 |
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ISO |
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 |
ClinVar |
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NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
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G |
Cd46 |
CD46 molecule |
severity susceptibility |
ISO |
DNA:mutations:cds:multiple (human) ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 CTD Direct Evidence: marker/mechanism protein:increased expression:peripheral blood mononuclear cell (human) DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human) DNA:missense mutations:cds:p.R69W, p.A304V (human) |
ClinVar OMIM CTD RGD |
PMID:270646 PMID:3480783 PMID:9551389 PMID:10528197 PMID:14566051 PMID:14615110 PMID:16621965 PMID:16762990 PMID:16882452 PMID:17089378 PMID:20059470 PMID:20513133 PMID:21706448 PMID:23431077 PMID:23731345 PMID:23780777 PMID:24033266 PMID:24161037 PMID:24247905 PMID:24944786 PMID:25381125 PMID:25525159 PMID:25741868 PMID:25899302 PMID:25951460 PMID:26054645 PMID:26307634 PMID:26559391 PMID:27399110 PMID:28056875 PMID:28492532 PMID:28509134 PMID:28752844 PMID:29500241 PMID:29566171 PMID:30305631 PMID:30609409 PMID:33224962 PMID:34169201 PMID:20595690 PMID:16353080 PMID:20513133 PMID:17914026 More...
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RGD:11038684, RGD:11352810, RGD:11040768, RGD:11352768 |
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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G |
Cfb |
complement factor B |
susceptibility |
ISO |
DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human) ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome CTD Direct Evidence: marker/mechanism DNA:nonsense mutations: :multiple |
ClinVar OMIM CTD RGD |
PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 PMID:16518403 PMID:16936732 PMID:17182750 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:23847193 PMID:24033266 PMID:24652797 PMID:25741868 PMID:26054779 PMID:28492532 PMID:17182750 PMID:20513133 More...
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RGD:7242707, RGD:11040768 |
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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G |
Cfh |
complement factor H |
susceptibility |
ISO IMP |
DNA:missense mutation ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 CTD Direct Evidence: marker/mechanism DNA:nonsense mutations, missense mutations, splice-site mutation: :multiple DNA:deletion:Cds: DNA:SNPs,Haplotype:: |
ClinVar OMIM CTD RGD |
PMID:646435 PMID:8072530 PMID:9536098 PMID:9551389 PMID:9811382 PMID:9848786 PMID:10577907 PMID:10762557 PMID:11158219 PMID:11170895 PMID:11170896 PMID:11978762 PMID:12424708 PMID:12697737 PMID:14978182 PMID:15761120 PMID:15870199 PMID:16299065 PMID:16338962 PMID:16470555 PMID:16601698 PMID:16619239 PMID:17018561 PMID:17576681 PMID:17599974 PMID:17947292 PMID:18235085 PMID:18252712 PMID:18268093 PMID:18557729 PMID:19190809 PMID:19259132 PMID:19297022 PMID:19454698 PMID:19633317 PMID:20016463 PMID:20059470 PMID:20203157 PMID:20513133 PMID:21317894 PMID:21415311 PMID:21909106 PMID:22019782 PMID:22171659 PMID:22223606 PMID:22389686 PMID:22403278 PMID:22410797 PMID:22456601 PMID:23431077 PMID:23852337 PMID:24036949 PMID:24498017 PMID:25037630 PMID:25741868 PMID:25814826 PMID:25880396 PMID:26559391 PMID:26826462 PMID:27718086 PMID:28492532 PMID:28941939 PMID:29410599 PMID:29500241 PMID:29888403 PMID:30560448 PMID:31447099 PMID:33519811 PMID:34189567 PMID:10577907 PMID:9811382 PMID:23243267 PMID:20513133 PMID:17517971 PMID:17517971 PMID:17517971 More...
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RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995, RGD:7364995, RGD:7364995 |
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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G |
Cfhr1 |
complement factor H-related 1 |
susceptibility |
ISO |
DNA:deletion ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 PMID:25741868 PMID:23243267 More...
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RGD:11041162 |
NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592
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G |
Cfi |
complement factor I |
susceptibility |
ISO |
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:9536098 PMID:15173250 PMID:16621965 PMID:17576681 PMID:18557729 PMID:18825487 PMID:19877009 PMID:20016463 PMID:20106822 PMID:20203157 PMID:20513133 PMID:20595690 PMID:22710145 PMID:23307876 PMID:23314101 PMID:23431077 PMID:23685748 PMID:23787556 PMID:24033266 PMID:24034049 PMID:24036952 PMID:24161037 PMID:25037630 PMID:25135378 PMID:25352734 PMID:25741868 PMID:25741909 PMID:25758434 PMID:25788521 PMID:26691988 PMID:26767664 PMID:27268256 PMID:28282489 PMID:28492532 PMID:29392637 PMID:29410599 PMID:29500241 PMID:29888403 PMID:31049720 PMID:31249236 PMID:32510551 PMID:15173250 More...
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RGD:6906889 |
NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
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G |
Col4a5 |
collagen type IV alpha 5 chain |
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ISO |
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 PMID:9848783 PMID:19344236 PMID:23720012 PMID:25741868 PMID:27627812 PMID:28492532 PMID:30577881 PMID:30773290 More...
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NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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G |
Dgke |
diacylglycerol kinase epsilon |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7 |
CTD ClinVar |
PMID:23542698 PMID:24511134 PMID:24747643 PMID:25741868 PMID:28492532 PMID:29590070 More...
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NCBI chr10:73,852,679...73,877,334
Ensembl chr10:73,855,583...73,877,100
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G |
Mmachc |
metabolism of cobalamin associated C |
|
ISO |
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:16311595 PMID:16714133 PMID:17768669 PMID:17853453 PMID:18164228 PMID:19370762 PMID:19760748 PMID:20549364 PMID:20610126 PMID:20631720 PMID:23757202 PMID:23837176 PMID:24033266 PMID:24126030 PMID:24599607 PMID:25687216 PMID:25741868 PMID:25894566 PMID:28492532 PMID:29396438 More...
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NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
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G |
Plg |
plasminogen |
|
ISO |
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
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NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
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G |
Smarcal1 |
Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 |
|
ISO |
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
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G |
Thbd |
thrombomodulin |
severity susceptibility no_association |
ISO |
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome CTD Direct Evidence: marker/mechanism DNA:SNPs:5' utr, 3' utr:multiple DNA:missense mutations:CDS:multiple |
ClinVar OMIM CTD RGD |
PMID:7811989 PMID:9157575 PMID:9236408 PMID:10460600 PMID:11245641 PMID:11986219 PMID:12139752 PMID:15574195 PMID:17677000 PMID:19625716 PMID:23332921 PMID:24933457 PMID:25135378 PMID:25741868 PMID:28492532 PMID:34355501 PMID:20595690 PMID:19625716 PMID:19625716 More...
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RGD:11038684, RGD:11038691, RGD:11038691 |
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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G |
Adamts13 |
ADAM metallopeptidase with thrombospondin type 1 motif, 13 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19260037 |
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NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
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G |
Alb |
albumin |
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ISO |
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RGD |
PMID:6683982 |
RGD:11036083 |
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Cd40 |
CD40 molecule |
|
ISO |
protein:increased expression:peripheral blood, B lymphocyte (human) |
RGD |
PMID:17654056 |
RGD:11344977 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd40lg |
CD40 ligand |
treatment |
ISO |
protein:increased expression:peripheral blood, T lymphocyte (human) protein:decreased expression:serum (mouse) |
RGD |
PMID:17654056 PMID:22537155 PMID:18341638 PMID:16188945 |
RGD:11344977, RGD:11352267, RGD:11352237, RGD:11344980 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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G |
Cd86 |
CD86 molecule |
treatment |
ISO |
protein:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:19379594 PMID:20581660 |
RGD:11354966, RGD:11520785 |
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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G |
Dnmt3a |
DNA methyltransferase 3 alpha |
|
ISO |
mRNA:decreased expression:mononuclear cell |
RGD |
PMID:18683034 |
RGD:9588662 |
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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G |
Dnmt3b |
DNA methyltransferase 3 beta |
susceptibility |
ISO |
mRNA:decreased expression:mononuclear cell DNA:SNP:promoter: -579G>T(human) |
RGD |
PMID:18683034 PMID:23000068 |
RGD:9588662, RGD:9589094 |
NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124
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G |
Fas |
Fas cell surface death receptor |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:10776692 |
RGD:11049162 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Fcgr2a |
Fc gamma receptor 2A |
no_association susceptibility treatment |
ISO |
DNA:SNP:cds:p.R131H (human) |
RGD |
PMID:20699442 PMID:23249566 PMID:22123287 PMID:21131591 |
RGD:11040883, RGD:11040990, RGD:11040989, RGD:11040933 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Fcgr2b |
Fc gamma receptor 2B |
treatment disease_progression |
ISO |
DNA:SNP: :p.I232T (human) |
RGD |
PMID:21131591 PMID:21045192 PMID:22257295 PMID:15566359 PMID:19549396 |
RGD:11040933, RGD:11344955, RGD:11344931, RGD:11344928, RGD:11344927 |
NCBI chr13:83,191,253...83,207,776
Ensembl chr13:83,193,163...83,207,778
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G |
Fcgr3a |
Fc gamma receptor 3A |
treatment susceptibility |
ISO |
DNA:SNP:cds:p.V158F(human) DNA:SNP:exon:p.F158V (rs396991) (human) |
RGD |
PMID:11380443 PMID:23484707 PMID:22123287 PMID:15479722 |
RGD:11040776, RGD:11352255, RGD:11040989, RGD:11344926 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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G |
Gp1ba |
glycoprotein Ib platelet subunit alpha |
|
ISO |
|
RGD |
PMID:16861348 |
RGD:10450841 |
NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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G |
Il10 |
interleukin 10 |
disease_progression |
ISO |
DNA:SNP:promoter:-627C>A (human) DNA:SNPs, haplotypes:promoter:-1082A>G, -819C>T, -592C>A (human) |
RGD |
PMID:25051072 PMID:22677268 |
RGD:11041894, RGD:11046267 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il18 |
interleukin 18 |
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ISO |
protein:increased expression:plasma: |
RGD |
PMID:24801815 |
RGD:11073600 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il1a |
interleukin 1 alpha |
|
ISO |
DNA:SNP:promoter:-899C>T (human) |
RGD |
PMID:21591983 |
RGD:11051966 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il1rn |
interleukin 1 receptor antagonist |
susceptibility |
ISO |
DNA:repeats:: |
RGD |
PMID:20626741 |
RGD:11528541 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il2 |
interleukin 2 |
susceptibility |
ISO |
DNA:polymorphism::-330T>G(human) |
RGD |
PMID:20626741 |
RGD:11528541 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Il4 |
interleukin 4 |
disease_progression |
ISO |
DNA:repeat:intron |
RGD |
PMID:25051072 |
RGD:11041894 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Itgb3 |
integrin subunit beta 3 |
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ISO |
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RGD |
PMID:10936026 PMID:24258817 |
RGD:10755473, RGD:10755475 |
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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G |
Mir130a |
microRNA 130a |
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ISO |
RNA:decreased expression:PBMC |
RGD |
PMID:24801815 |
RGD:11073600 |
NCBI chr 3:69,822,542...69,822,629
Ensembl chr 3:69,822,542...69,822,629
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G |
Mir3581 |
microRNA 3581 |
treatment |
ISO |
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RGD |
PMID:23360331 |
RGD:10755694 |
NCBI chr 6:128,757,779...128,757,858
Ensembl chr 6:128,757,779...128,757,858
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G |
Mir409 |
microRNA 409 |
treatment |
ISO |
|
RGD |
PMID:23360331 |
RGD:10755694 |
NCBI chr 6:128,757,780...128,757,856
Ensembl chr 6:128,757,779...128,757,858
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G |
Plat |
plasminogen activator, tissue type |
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ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:2129164 |
RGD:11541072 |
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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G |
Ptpn22 |
protein tyrosine phosphatase, non-receptor type 22 |
no_association |
ISO |
DNA: snp: cds: C1858T DNA:snp:cds:c.1858C>T (rs2476601) (human) |
RGD |
PMID:21597364 PMID:27309885 |
RGD:6484673, RGD:11535019 |
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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G |
RT1-Bb |
RT1 class II, locus Bb |
treatment |
ISO |
DNA:polymorphisms:cds:HLA-DQB1*0401 (human) |
RGD |
PMID:10435723 |
RGD:11041758 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
treatment |
ISO |
DNA:polymorphisms:cds:HLA-DRB1*0901, HLA-DRB1*0410 (human) |
RGD |
PMID:10435723 |
RGD:11041758 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
Socs1 |
suppressor of cytokine signaling 1 |
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ISO |
ClinVar Annotator: match by term: Autoimmune thrombocytopenic purpura |
ClinVar |
PMID:33087723 |
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NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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G |
Tgfb1 |
transforming growth factor, beta 1 |
disease_progression |
ISO |
mRNA:increased expression: : protein:decreased expression:plasma: |
RGD |
PMID:11886393 PMID:24763013 PMID:24801815 |
RGD:11073598, RGD:11073603, RGD:11073600 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tubb1 |
tubulin, beta 1 class VI |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant macrothrombocytopenia TUBB1-related | ClinVar Annotator: match by term: MACROTHROMBOCYTOPENIA, ISOLATED, 1, AUTOSOMAL DOMINANT |
OMIM ClinVar |
PMID:18849486 PMID:24777453 PMID:25741868 PMID:28492532 PMID:28983057 PMID:31064749 PMID:32892537 PMID:33400601 PMID:34355501 More...
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NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063
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G |
Myh9 |
myosin, heavy chain 9 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration |
OMIM ClinVar |
PMID:9390828 PMID:10973259 PMID:11023810 PMID:11590545 PMID:11752022 PMID:12533692 PMID:15339844 PMID:16098078 PMID:16969870 PMID:17146397 PMID:17655694 PMID:18059020 PMID:18330899 PMID:18676005 PMID:19557653 PMID:20416459 PMID:20588287 PMID:21542825 PMID:22123909 PMID:22477015 PMID:22627578 PMID:22995991 PMID:23144074 PMID:23349334 PMID:23409987 PMID:23804846 PMID:24033266 PMID:24130771 PMID:24186861 PMID:24643058 PMID:24890873 PMID:25077172 PMID:25505834 PMID:25741868 PMID:25752595 PMID:25949529 PMID:26056797 PMID:26226608 PMID:26346198 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28059092 PMID:28492532 PMID:28983057 PMID:29090586 PMID:30311386 PMID:30471777 PMID:30720677 PMID:31064749 PMID:32604935 PMID:33532864 PMID:34355501 More...
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NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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G |
F8 |
coagulation factor VIII |
|
ISO |
ClinVar Annotator: match by term: Mild hemophilia A |
ClinVar |
PMID:29357978 |
|
NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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G |
Gp1ba |
glycoprotein Ib platelet subunit alpha |
treatment |
ISO |
ClinVar Annotator: match by term: Bernard Soulier syndrome DNA:missense mutation, nonsense mutation: :p.C209S (715T>A) (human) DNA:missense mutation: :p.N45S (1829A>G) (human) DNA:missense mutation, deletion: :p.L129P, 4630_4631del (human) DNA:missense mutation: :p.L129P (human) DNA:missense mutation: :p.N126D (c.376A>G) (human) DNA:missense mutation: :p.V262G (c.785T>G) (human) |
OMIM ClinVar RGD |
PMID:9639514 PMID:25370924 PMID:25741868 PMID:28492532 PMID:28983057 PMID:34355501 PMID:11776304 PMID:19404517 PMID:22044935 PMID:10089893 PMID:10996832 PMID:21173099 PMID:23995613 More...
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RGD:10450843, RGD:10450834, RGD:10450833, RGD:10450819, RGD:10450809, RGD:10450798, RGD:10450796 |
NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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G |
Gp1bb |
glycoprotein Ib platelet subunit beta |
severity |
ISO |
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome DNA:missense mutation:exon:c.281A>G(p.D94G)(human) DNA:deletion:cds: DNA:mutations:cds:p.Y88C,A108P(human) |
OMIM ClinVar RGD |
PMID:10887115 PMID:25741868 PMID:31064749 PMID:32581362 PMID:34355501 PMID:28131619 PMID:12945881 PMID:17095718 PMID:9116284 More...
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RGD:13464128, RGD:11040530, RGD:11040529, RGD:11040528 |
NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
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G |
Gp9 |
glycoprotein IX (platelet) |
severity |
ISO |
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: Von Willebrand factor receptor deficiency DNA:missense mutation:cds:c.182A>G(p.N61S)(human) DNA:mutation:cds:p.C73Y(human) |
OMIM ClinVar RGD |
PMID:8049428 PMID:8481514 PMID:9163595 PMID:11167791 PMID:14510954 PMID:21173099 PMID:21699652 PMID:25370924 PMID:25539746 PMID:25741868 PMID:28131619 PMID:28492532 PMID:28765788 PMID:31064749 PMID:32581362 PMID:34355501 PMID:28131619 PMID:8972003 More...
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RGD:13464128, RGD:11040531 |
NCBI chr 4:120,235,539...120,236,874
Ensembl chr 4:120,235,421...120,237,110
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G |
Vwf |
von Willebrand factor |
|
ISO |
|
RGD |
PMID:14717981 |
RGD:1580643 |
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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G |
Gp1ba |
glycoprotein Ib platelet subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A2, autosomal dominant |
OMIM ClinVar |
PMID:1730088 PMID:7690774 PMID:11222377 PMID:25741868 PMID:30908598 PMID:31064749 PMID:34355501 More...
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NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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G |
Gp1ba |
glycoprotein Ib platelet subunit alpha |
|
ISO |
DNA:missense mutation: :p.A156V (515C>T) (human) DNA:missense mutation: :p.N41H (169A>C) (human) |
RGD |
PMID:11222377 PMID:18815197 |
RGD:10450832, RGD:10450842 |
NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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G |
Gp1ba |
glycoprotein Ib platelet subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A1 |
ClinVar |
PMID:1901273 PMID:2308962 PMID:7690774 PMID:9233564 PMID:11222377 PMID:25741868 PMID:28492532 PMID:28983057 PMID:34355501 More...
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NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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G |
Gp1bb |
glycoprotein Ib platelet subunit beta |
|
ISO |
ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B | ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type |
ClinVar |
PMID:7633430 PMID:8703016 PMID:9116284 PMID:10887115 PMID:18414213 PMID:25741868 PMID:31064749 PMID:32581362 PMID:34355501 More...
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NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
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G |
Gp9 |
glycoprotein IX (platelet) |
|
ISO |
DNA:missense mutations:cds:p.D21G, p.N45S (human) ClinVar Annotator: match by term: Bernard-Soulier syndrome type C |
ClinVar RGD |
PMID:8049428 PMID:8481514 PMID:9163595 PMID:9886312 PMID:11167791 PMID:12100158 PMID:13442197 PMID:14510954 PMID:21173099 PMID:21699652 PMID:25370924 PMID:25539746 PMID:25741868 PMID:28131619 PMID:28492532 PMID:28765788 PMID:31064749 PMID:32581362 PMID:34355501 PMID:8481514 More...
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RGD:1599275 |
NCBI chr 4:120,235,539...120,236,874
Ensembl chr 4:120,235,421...120,237,110
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G |
Ankrd26 |
ankyrin repeat domain containing 26 |
|
ISO |
ClinVar Annotator: match by term: Platelet disorder |
ClinVar |
PMID:23677566 PMID:25741868 PMID:31064749 |
|
NCBI chr 4:151,670,604...151,740,032
Ensembl chr 4:151,672,037...151,739,968
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G |
Cd36 |
CD36 molecule |
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ISO |
CD36 deficiency, OMIM:608404, DNA:point mutation, frameshift mutation ClinVar Annotator: match by term: Platelet disorder |
ClinVar RGD |
PMID:7533783 PMID:7686693 PMID:10946357 PMID:11019968 PMID:11718687 PMID:11950861 PMID:15282206 PMID:24033266 PMID:24917573 PMID:24960640 PMID:25798958 PMID:11950861 More...
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RGD:1600629 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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G |
Fermt3 |
FERM domain containing kindlin 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18278053 |
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NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587
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G |
Pla2g4a |
phospholipase A2 group IVA |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18451993 |
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NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266
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G |
Runx1 |
RUNX family transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Platelet disorder |
ClinVar |
PMID:10508512 PMID:11830488 PMID:23848403 PMID:25741868 PMID:25840971 PMID:26175287 PMID:28492532 PMID:28960434 More...
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NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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G |
Stxbp2 |
syntaxin binding protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30696774 |
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NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458
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G |
Tbxa2r |
thromboxane A2 receptor |
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ISO |
DNA:mutation:cds:p.R60L(human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:7929844 PMID:19828703 PMID:7929844 |
RGD:1578439 |
NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
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G |
Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
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G |
Zfp469 |
zinc finger protein 469 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 PMID:25741868 PMID:28492532 PMID:29228253 PMID:32671420 PMID:33739556 PMID:33816482 PMID:34368841 More...
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NCBI chr19:50,282,434...50,324,010
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G |
Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome 2 |
OMIM ClinVar |
PMID:8458232 PMID:21664999 PMID:22122778 PMID:25741868 PMID:26395458 PMID:28492532 PMID:33739556 PMID:34008892 More...
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NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
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G |
Ccm2 |
CCM2 scaffold protein |
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ISO |
ClinVar Annotator: match by term: Cavernous hemangioma |
ClinVar |
PMID:25741868 |
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NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
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G |
Krit1 |
KRIT1, ankyrin repeat containing |
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ISO |
ClinVar Annotator: match by term: Cavernous hemangioma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359
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G |
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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G |
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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G |
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: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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G |
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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G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
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ISO |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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G |
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 |
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:11161805 PMID:11222804 PMID:11914398 PMID:11941540 PMID:12404106 PMID:12854741 PMID:14755725 PMID:16199547 PMID:17576681 PMID:19088123 PMID:19454328 PMID:20301470 PMID:20419355 PMID:21029238 PMID:23595507 PMID:24401931 PMID:24689081 PMID:25525273 PMID:25741868 PMID:26467025 PMID:27766163 PMID:28000143 PMID:28492532 PMID:28645800 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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G |
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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G |
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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G |
Pdcd10 |
programmed cell death 10 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:15543491 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 |
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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G |
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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G |
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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G |
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:24689081 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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G |
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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G |
Ccm2 |
CCM2 scaffold protein |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 2 |
OMIM ClinVar |
PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 PMID:16199547 PMID:17160895 PMID:17576681 PMID:18060436 PMID:18300272 PMID:19088123 PMID:19088124 PMID:20419355 PMID:23595507 PMID:24466005 PMID:24689081 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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G |
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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G |
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:16329096 PMID:17576681 PMID:18060436 PMID:18300272 PMID:23595507 PMID:23801932 PMID:24466005 PMID:24689081 PMID:25122144 PMID:25741868 PMID:26246098 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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G |
Serpini1 |
serpin family I member 1 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 3 |
ClinVar |
PMID:15543491 PMID:18300272 PMID:23801932 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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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 |
OMIM ClinVar |
PMID:15728585 PMID:16407265 PMID:17206620 PMID:23692737 PMID:25944380 PMID:28492532 More...
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NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 |
OMIM ClinVar |
PMID:10982177 PMID:11288717 PMID:23692737 PMID:25741868 PMID:25944380 PMID:28492532 More...
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NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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G |
Abcb11 |
ATP binding cassette subfamily B member 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22120137 |
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NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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G |
Cfi |
complement factor I |
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ISO |
ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency |
ClinVar |
PMID:849647 PMID:8613545 PMID:9536098 PMID:12562389 PMID:17018561 PMID:17576681 PMID:18374984 PMID:22710145 PMID:25741868 PMID:25988862 PMID:26826462 PMID:28492532 PMID:29888403 More...
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NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
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G |
Fga |
fibrinogen alpha chain |
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ISO |
ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Hypofibrinogenemia CTD Direct Evidence: marker/mechanism DNA:deletion:cds: (human) |
ClinVar CTD OMIM RGD |
PMID:237956 PMID:1391954 PMID:2738154 PMID:3345340 PMID:3590111 PMID:3618591 PMID:4052020 PMID:6191801 PMID:7298640 PMID:10602365 PMID:10891444 PMID:10910940 PMID:12358944 PMID:12871326 PMID:14615374 PMID:16362348 PMID:19420351 PMID:22880226 PMID:25741868 PMID:25816717 PMID:27164460 PMID:27684817 PMID:28101869 PMID:28211264 PMID:28492532 PMID:30332696 PMID:31064749 PMID:31924745 PMID:32166693 PMID:32877852 PMID:33668986 PMID:34355501 PMID:15795544 PMID:10602365 More...
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RGD:5688762, RGD:11040559 |
NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
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G |
Fgb |
fibrinogen beta chain |
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ISO |
ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Hypofibrinogenemia |
ClinVar OMIM RGD |
PMID:1565641 PMID:3194892 PMID:10666208 PMID:10688828 PMID:11468164 PMID:12161363 PMID:12393540 PMID:12573244 PMID:15070683 PMID:15795540 PMID:19420351 PMID:21713329 PMID:22273812 PMID:22836883 PMID:24033266 PMID:25592583 PMID:25741868 PMID:27164460 PMID:28492532 PMID:30349899 PMID:31064749 PMID:34355501 PMID:12393540 More...
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RGD:737709 |
NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979
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G |
Fgg |
fibrinogen gamma chain |
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ISO |
DNA:snp:intron:IVS3+5G>A (human) ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: FIBRINOGEN PARIS 1 | ClinVar Annotator: match by term: Hypofibrinogenemia DNA:nonsense mutation:exon:p.R134X (human) |
ClinVar OMIM RGD |
PMID:1249208 PMID:1471077 PMID:1733971 PMID:2512677 PMID:2617471 PMID:2971042 PMID:2976995 PMID:3337908 PMID:3563970 PMID:4002201 PMID:4427684 PMID:6654188 PMID:6886002 PMID:7635941 PMID:8470043 PMID:10688828 PMID:11001902 PMID:11001903 PMID:11435303 PMID:15795540 PMID:16144795 PMID:17854317 PMID:21228398 PMID:23560673 PMID:24033266 PMID:24556703 PMID:25320241 PMID:25741868 PMID:26105150 PMID:28211264 PMID:28492532 PMID:29240685 PMID:30349899 PMID:30418131 PMID:30431218 PMID:30487145 PMID:30632992 PMID:31064749 PMID:31295712 PMID:31479941 PMID:34355501 PMID:11001903 PMID:15284111 More...
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RGD:737710, RGD:11352676 |
NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
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G |
Mpl |
MPL proto-oncogene, thrombopoietin receptor |
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ISO |
ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia |
OMIM ClinVar |
PMID:971406 PMID:8073287 PMID:9536098 PMID:10077649 PMID:10971406 PMID:11071383 PMID:11133753 PMID:11392330 PMID:11972523 PMID:15269348 PMID:15531462 PMID:16199547 PMID:16219544 PMID:16470591 PMID:16834459 PMID:16868251 PMID:17054430 PMID:17576681 PMID:17666371 PMID:18090929 PMID:18240171 PMID:18422784 PMID:18451306 PMID:19036112 PMID:19302922 PMID:19388932 PMID:20188141 PMID:21162090 PMID:21225925 PMID:21228398 PMID:21489838 PMID:21659346 PMID:22180433 PMID:22389068 PMID:23103231 PMID:23625800 PMID:23908116 PMID:24033266 PMID:24119002 PMID:24438083 PMID:24728327 PMID:25538044 PMID:25741868 PMID:26316487 PMID:26854587 PMID:27069254 PMID:27418648 PMID:27449473 PMID:27854218 PMID:28492532 PMID:28697167 PMID:28859041 PMID:29384262 PMID:29625052 PMID:30840646 PMID:30886832 PMID:31064749 PMID:31249973 PMID:32581362 PMID:32703794 More...
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NCBI chr 5:131,973,897...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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G |
Stt3b |
STT3 oligosaccharyltransferase complex catalytic subunit B |
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ISO |
ClinVar Annotator: match by term: CDG Ix | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x |
OMIM ClinVar |
PMID:23842455 PMID:25741868 PMID:28492532 PMID:32253875 |
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NCBI chr 8:114,928,678...114,994,027
Ensembl chr 8:114,917,824...114,994,028
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G |
Fga |
fibrinogen alpha chain |
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ISO |
ClinVar Annotator: match by term: Dysfibrinogenemia | ClinVar Annotator: match by term: Dysfibrinogenemia, congenital | ClinVar Annotator: match by term: FIBRINOGEN AARHUS 1 | ClinVar Annotator: match by term: FIBRINOGEN CARACAS 2 |
OMIM ClinVar |
PMID:237956 PMID:1675636 PMID:1912564 PMID:2738154 PMID:3345340 PMID:3590111 PMID:3618591 PMID:3667568 PMID:4052020 PMID:4082078 PMID:6191801 PMID:6667926 PMID:7298640 PMID:8140431 PMID:11435303 PMID:11460527 PMID:16846481 PMID:22880226 PMID:25741868 PMID:25816717 PMID:27684817 PMID:28101869 PMID:28211264 PMID:30332696 PMID:31064749 PMID:31924745 PMID:32166693 PMID:32877852 PMID:33668986 More...
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NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
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G |
Fgb |
fibrinogen beta chain |
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ISO |
DNA:mutation:missense mutation:g.g.9692A>G(human) ClinVar Annotator: match by term: Dysfibrinogenemia, congenital DNA:nonsense mutation:cds:p.w467X(human) |
ClinVar OMIM RGD |
PMID:25741868 PMID:24711018 PMID:12511408 |
RGD:10450765, RGD:10450766 |
NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979
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G |
Fgg |
fibrinogen gamma chain |
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ISO |
DNA:deletion:intron:IVS9+1delG (human) ClinVar Annotator: match by term: Dysfibrinogenemia, congenital DNA:missense mutation:exon:p.N308T (c.1001A>C) (human) |
ClinVar OMIM RGD |
PMID:1733971 PMID:2496144 PMID:2512677 PMID:2976995 PMID:3563970 PMID:6654188 PMID:11435303 PMID:19923982 PMID:19949684 PMID:22836217 PMID:25741868 PMID:28492532 PMID:31064749 PMID:34355501 PMID:25551304 PMID:24482809 More...
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RGD:11352672, RGD:11352691 |
NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
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G |
Fga |
fibrinogen alpha chain |
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ISO |
ClinVar Annotator: match by term: Hypodysfibrinogenemia, congenital |
ClinVar |
PMID:10891444 PMID:14615374 PMID:25741868 PMID:31064749 |
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NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
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G |
Fgb |
fibrinogen beta chain |
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ISO |
ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 2 | ClinVar Annotator: match by term: FIBRINOGEN CHRISTCHURCH 2 | ClinVar Annotator: match by term: FIBRINOGEN LONGMONT |
ClinVar |
PMID:1565641 PMID:3194892 PMID:11468164 PMID:25741868 PMID:31064749 |
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NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979
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G |
Fgg |
fibrinogen gamma chain |
|
ISO |
DNA:missense mutation:exon:p.R375W (human) ClinVar Annotator: match by term: FIBRINOGEN HAIFA 1 | ClinVar Annotator: match by term: FIBRINOGEN TOKYO 2 | ClinVar Annotator: match by term: Hypodysfibrinogenemia DNA:frameshift mutation: :c.554delA (human) DNA:missense mutations: :p.D316N, p.G366S (human) DNA:missense mutation: :p.S313N (7590G>A) (human) DNA:missense mutations:exon:p.W208L (g.5792G>T), p.K232T (g.5864A>C) (human) DNA:missense mutation:exon:p.T277R (7482G>C) (human) DNA:missense mutation:exon:p.A341D (human |
ClinVar RGD |
PMID:1733971 PMID:2512677 PMID:2617471 PMID:2971042 PMID:2976995 PMID:3337908 PMID:3563970 PMID:4002201 PMID:6654188 PMID:6886002 PMID:7635941 PMID:11344575 PMID:15632207 PMID:25741868 PMID:31064749 PMID:34355501 PMID:12198657 PMID:23560673 PMID:26039544 PMID:16607083 PMID:24914742 PMID:23492915 PMID:16959688 More...
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RGD:11352674, RGD:11352694, RGD:11352682, RGD:11352681, RGD:11352680, RGD:11352678, RGD:11352675 |
NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
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F2 |
coagulation factor II |
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ISO |
ClinVar Annotator: match by term: Congenital prothrombin deficiency | ClinVar Annotator: match by term: Hereditary factor II deficiency disease | ClinVar Annotator: match by term: Prolonged prothrombin time DNA:deletion, missense mutations:cds: |
OMIM ClinVar RGD |
PMID:444582 PMID:625142 PMID:1349838 PMID:1421398 PMID:1557383 PMID:2222810 PMID:2429850 PMID:2719946 PMID:3242619 PMID:3567158 PMID:3771562 PMID:3801671 PMID:6085205 PMID:6305407 PMID:6405779 PMID:7740448 PMID:8696333 PMID:8896550 PMID:8916933 PMID:9106528 PMID:9292507 PMID:9462220 PMID:9493607 PMID:9531249 PMID:9569177 PMID:9694698 PMID:9869612 PMID:10027711 PMID:10233438 PMID:10233439 PMID:10336270 PMID:10348710 PMID:10348711 PMID:10348712 PMID:10406905 PMID:10477778 PMID:10544935 PMID:10651742 PMID:11154146 PMID:11358905 PMID:11443298 PMID:11506076 PMID:11796466 PMID:11874997 PMID:11904676 PMID:12149217 PMID:13217497 PMID:13228032 PMID:14489469 PMID:15059842 PMID:15534175 PMID:16487178 PMID:16493002 PMID:19159930 PMID:19289024 PMID:19531787 PMID:19554541 PMID:19560233 PMID:19598065 PMID:19652888 PMID:20301327 PMID:21243428 PMID:21349849 PMID:23429074 PMID:24033266 PMID:25741868 PMID:27031503 PMID:28492532 PMID:31064749 PMID:34355501 PMID:11154146 More...
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RGD:11565075 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Abcb1a |
ATP binding cassette subfamily B member 1A |
susceptibility |
ISO |
associated with hepatitis C;DNA:SNP: :3435C>T(human) |
RGD |
PMID:28453396 |
RGD:14700902 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Cd86 |
CD86 molecule |
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ISO |
associated with Hepatitis C, Chronic;protein:increased expression:peripheral blood, B cell (human) |
RGD |
PMID:23840845 |
RGD:11354974 |
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cxcl10 |
C-X-C motif chemokine ligand 10 |
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ISO |
associated with hepatitis C; protein:increased expression:serum |
RGD |
PMID:18775023 |
RGD:27095893 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Ifnl3 |
interferon, lambda 3 |
susceptibility severity |
ISO |
associated with Hepatitis C, Chronic;DNA:SNP:enhancer: (rs12979860) (human) |
RGD |
PMID:24293567 PMID:24293567 |
RGD:11528546, RGD:11528546 |
NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096
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Tcn2 |
transcobalamin 2 |
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ISO |
associated with Glomerulonephritis;protein:increased expression:serum: |
RGD |
PMID:3574578 |
RGD:11060121 |
NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489
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Tnf |
tumor necrosis factor |
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ISO |
protein:increased expression:serum |
RGD |
PMID:19860001 |
RGD:10450529 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tslp |
thymic stromal lymphopoietin |
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ISS |
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MouseDO |
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NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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Aicda |
activation-induced cytidine deaminase |
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ISO |
associated with Chronic Hepatitis C; mRNA:increased expression:B cell, CD19-positive (human) |
RGD |
PMID:26219420 |
RGD:30296664 |
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Tslp |
thymic stromal lymphopoietin |
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ISO |
associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human) |
RGD |
PMID:25889007 |
RGD:38596329 |
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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Gp1ba |
glycoprotein Ib platelet subunit alpha |
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ISO |
associated with Escherichia Coli Infections;DNA:SNP:exon: (rs121908064) (human) |
RGD |
PMID:29216383 |
RGD:42722620 |
NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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Adamts13 |
ADAM metallopeptidase with thrombospondin type 1 motif, 13 |
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ISO |
protein:decreased expression, decreased activity:plasma (human) |
RGD |
PMID:16189276 |
RGD:10449048 |
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
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Elane |
elastase, neutrophil expressed |
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ISO |
protein:increased expression:plasma: associated with Multiple Organ Failure, Craniocerebral Trauma;protein:increased expression:plasma: |
RGD |
PMID:20655560 PMID:10912863 |
RGD:10450544, RGD:10450545 |
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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F13a1 |
coagulation factor XIII A1 chain |
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ISO |
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RGD |
PMID:16642548 |
RGD:1581020 |
NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
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F2 |
coagulation factor II |
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IDA ISO |
CTD Direct Evidence: marker/mechanism associated with Wounds and Injuries |
CTD RGD |
PMID:1894189 PMID:22229668 PMID:23737601 PMID:1336986 PMID:19682336 |
RGD:6893489, RGD:10449432, RGD:10449429, RGD:10449422 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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F3 |
coagulation factor III, tissue factor |
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ISO IEP |
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:lung, plasma associated with Leukemia, Myeloid |
CTD RGD |
PMID:7740478 PMID:9134660 PMID:20642682 PMID:8914465 PMID:9426395 PMID:3802033 More...
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RGD:11060253, RGD:11060265, RGD:11341675 |
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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F7 |
coagulation factor VII |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16159073 |
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NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
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Fga |
fibrinogen alpha chain |
treatment |
IEP IDA |
protein:decreased expression:plasma (rat) |
RGD |
PMID:23538169 PMID:22800895 |
RGD:10755508, RGD:10755509 |
NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
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Il10 |
interleukin 10 |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:16613997 |
RGD:11049462 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il6 |
interleukin 6 |
severity treatment |
ISO IEP IDA |
associated with Hemorrhagic Fever, Crimean protein:increased expression:plasma (rat) |
RGD |
PMID:16518755 PMID:16932226 PMID:16810104 PMID:16613997 |
RGD:10450536, RGD:11062099, RGD:11060278, RGD:11049462 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Oxt |
oxytocin/neurophysin I prepropeptide |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15547535 |
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NCBI chr 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490
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Plat |
plasminogen activator, tissue type |
treatment |
ISO IDA |
protein:increased expression:plasma (human) associated with Jaundice, Obstructive |
RGD |
PMID:23726093 PMID:1425827 |
RGD:11541052, RGD:11541087 |
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Proc |
protein C, inactivator of coagulation factors Va and VIIIa |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18376272 PMID:9788960 PMID:10936861 |
RGD:11099993, RGD:11100014 |
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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Serpinc1 |
serpin family C member 1 |
treatment |
ISO |
associated with Endotoxemia CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:6233579 PMID:8810955 PMID:9637888 PMID:2679067 |
RGD:11035251 |
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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Serpine1 |
serpin family E member 1 |
treatment |
IDA IEP |
associated with Endotoxemia protein:increased expression:blood (rat) |
RGD |
PMID:15869603 PMID:23737601 |
RGD:11080963, RGD:10449432 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Tfpi |
tissue factor pathway inhibitor |
treatment |
ISO IEP |
mRNA, protein:increased expression:lung, plasma protein:increased expression:plasma: |
RGD |
PMID:11074537 PMID:8292719 PMID:8929465 PMID:9426395 PMID:8914465 |
RGD:11060128, RGD:11341674, RGD:11062067, RGD:11060265, RGD:11060253 |
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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Thbd |
thrombomodulin |
treatment |
ISO |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:9134660 PMID:21569368 PMID:23952647 |
RGD:5685034, RGD:11038686 |
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Tnf |
tumor necrosis factor |
severity |
ISO |
associated with Hemorrhagic Fever, Crimean |
RGD |
PMID:16518755 |
RGD:10450536 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Abcc2 |
ATP binding cassette subfamily C member 2 |
susceptibility |
ISO |
associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP, haplotype:promoter,cds: 3972C>T, -24C>T(human) |
RGD |
PMID:20943283 |
RGD:11080978 |
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Dpyd |
dihydropyrimidine dehydrogenase |
treatment |
ISO |
associated with Neoplasms;DNA:SNP:intron:IVS14+1G>A (human) associated with Stomach Neoplasms |
RGD |
PMID:19473056 PMID:23064955 |
RGD:11098817, RGD:11251740 |
NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
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Gstm1 |
glutathione S-transferase mu 1 |
susceptibility treatment |
ISO |
associated with Ovarian Neoplasms;DNA:deletion: : (human) associated with diffuse large B-cell lymphoma; DNA:deletion:cds: |
RGD |
PMID:19786980 PMID:20303013 |
RGD:5688741, RGD:10450835 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstt1 |
glutathione S-transferase theta 1 |
treatment |
ISO |
associated with diffuse large B-cell lymphoma; DNA:deletion:cds: |
RGD |
PMID:20303013 |
RGD:10450835 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Il1a |
interleukin 1 alpha |
treatment |
ISO |
associated with Carcinoma, Non-Small-Cell Lung associated with Ovarian Neoplasms |
RGD |
PMID:7666093 PMID:8151314 |
RGD:11051963, RGD:11051964 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b |
interleukin 1 beta |
treatment |
ISO |
associated with Glioblastoma; |
RGD |
PMID:1331350 |
RGD:10450883 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
severity |
ISO |
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RGD |
PMID:10942385 PMID:17234740 |
RGD:11541093, RGD:11541120 |
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Adamts2 |
ADAM metallopeptidase with thrombospondin type 1 motif, 2 |
susceptibility |
ISO |
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RGD |
PMID:10417273 |
RGD:1598739 |
NCBI chr10:34,920,996...35,126,465
Ensembl chr10:34,921,049...35,123,821
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B4galt7 |
beta-1,4-galactosyltransferase 7 |
susceptibility |
ISO |
DNA:transition:exon;808C>T |
RGD |
PMID:10473568 |
RGD:1599433 |
NCBI chr17:9,018,514...9,027,591
Ensembl chr17:9,018,935...9,027,573
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C1r |
complement C1r |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
ClinVar |
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NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
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Col1a1 |
collagen type I alpha 1 chain |
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ISO ISS |
DNA:transition mutation:splice junction: OMIM:225400 |
MouseDO RGD |
PMID:24443344 |
RGD:11571617 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col1a2 |
collagen type I alpha 2 chain |
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ISO |
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RGD |
PMID:15077201 |
RGD:1581198 |
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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Col3a1 |
collagen type III alpha 1 chain |
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ISO |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Ehlers-Danlos syndrome CTD Direct Evidence: marker/mechanism DNA:deletion:exon DNA:deletion:promoter, exons, introns |
ClinVar CTD RGD |
PMID:2049575 PMID:21086191 PMID:24033266 PMID:25637381 PMID:25741868 PMID:25758994 PMID:25846194 PMID:27011056 PMID:27964749 PMID:28492532 PMID:28748566 PMID:30374176 PMID:10706896 PMID:1370809 PMID:21071432 PMID:16012458 More...
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RGD:1300381, RGD:11041602, RGD:11041599, RGD:7257554 |
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Col5a1 |
collagen type V alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome DNA:repeat:intron:IVS17 (human) |
ClinVar RGD |
PMID:12145749 PMID:11278977 PMID:10777716 PMID:8752669 |
RGD:1581210, RGD:1581211, RGD:1581212, RGD:734808 |
NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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Col5a2 |
collagen type V alpha 2 chain |
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ISO |
EDS type 1, OMIM:130000, EDS type 2, OMIM:130010, DNA:deletions |
RGD |
PMID:9425231 |
RGD:734809 |
NCBI chr 9:47,448,736...47,598,396
Ensembl chr 9:47,448,736...47,598,154
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Dcn |
decorin |
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ISS |
OMIM:225400 |
MouseDO |
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NCBI chr 7:32,281,252...32,321,291
Ensembl chr 7:32,281,252...32,321,270
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Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
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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Lox |
lysyl oxidase |
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ISO |
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RGD |
PMID:8638917 |
RGD:1581895 |
NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477
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Plod1 |
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 |
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ISS ISO |
OMIM:225400 ClinVar Annotator: match by term: Ehlers-Danlos syndrome |
MouseDO ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
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Slc39a13 |
solute carrier family 39 member 13 |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.G74D (human) |
CTD RGD |
PMID:18985159 PMID:18985159 PMID:18985159 |
RGD:11553861, RGD:11553861 |
NCBI chr 3:77,039,411...77,047,536
Ensembl chr 3:77,037,565...77,049,226
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Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
protein:increased expression:plasma: |
RGD |
PMID:24399159 |
RGD:11073604 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tnxb |
tenascin XB |
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ISO |
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RGD |
PMID:11642233 |
RGD:1599494 |
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Col1a1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Arthrochalasis multiplex congenita | ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 |
ClinVar OMIM RGD |
PMID:2037280 PMID:2542316 PMID:7695699 PMID:7942841 PMID:8218237 PMID:8408653 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:10931857 PMID:11113887 PMID:15024745 PMID:15241796 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16199547 PMID:16786509 PMID:17078022 PMID:17309652 PMID:17392686 PMID:18412368 PMID:18553566 PMID:18704262 PMID:19344236 PMID:21249479 PMID:21567126 PMID:21667357 PMID:22589248 PMID:24390061 PMID:24767406 PMID:25086671 PMID:25741868 PMID:25944380 PMID:26177859 PMID:26467025 PMID:27044453 PMID:27132807 PMID:27146342 PMID:27509835 PMID:27748872 PMID:28378289 PMID:28492532 PMID:28810924 PMID:29499418 PMID:29543232 PMID:30692697 PMID:30715774 PMID:31304589 PMID:32166892 PMID:33228694 PMID:33928192 PMID:33939306 PMID:9295084 More...
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RGD:734803 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Arthrochalasis multiplex congenita | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 |
ClinVar |
PMID:25441681 PMID:25741868 PMID:28492532 |
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NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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Col5a1 |
collagen type V alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A |
ClinVar |
PMID:9536098 PMID:10471441 PMID:10602121 PMID:10946364 PMID:11992482 PMID:12145749 PMID:15580559 PMID:17576681 PMID:19019335 PMID:19370768 PMID:20635400 PMID:20979576 PMID:22696272 PMID:24033266 PMID:24685354 PMID:24951259 PMID:25741868 PMID:26608033 PMID:26854089 PMID:27011056 PMID:28166811 PMID:28492532 PMID:29924831 PMID:30858776 More...
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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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Col5a2 |
collagen type V alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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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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Col1a1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 |
ClinVar |
PMID:25944380 PMID:28492532 PMID:32581362 |
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NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 |
OMIM ClinVar |
PMID:1556139 PMID:1577745 PMID:1712342 PMID:1978725 PMID:1990839 PMID:2454224 PMID:2777808 PMID:2985635 PMID:2993307 PMID:3621666 PMID:3680255 PMID:3733683 PMID:4742738 PMID:6773953 PMID:7695699 PMID:7860070 PMID:7864655 PMID:8081389 PMID:8094076 PMID:8218237 PMID:8456808 PMID:9016532 PMID:9272740 PMID:9399846 PMID:9536098 PMID:9594376 PMID:9923651 PMID:10976985 PMID:11317364 PMID:15172002 PMID:16705691 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18996919 PMID:19344236 PMID:21884818 PMID:22589248 PMID:23158907 PMID:24033266 PMID:25326637 PMID:25450603 PMID:25633413 PMID:25741868 PMID:25835785 PMID:25944380 PMID:26307460 PMID:26432670 PMID:26467025 PMID:26604951 PMID:27056980 PMID:27519266 PMID:28492532 PMID:31319225 PMID:32659730 More...
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NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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Alb |
albumin |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type |
ClinVar |
PMID:2404284 PMID:8347685 |
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NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular type |
ClinVar |
PMID:1867198 PMID:2037280 PMID:2542316 PMID:2767050 PMID:3082886 PMID:6462220 PMID:7691343 PMID:7695699 PMID:7942841 PMID:8079666 PMID:8218237 PMID:8408653 PMID:8456808 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:9536098 PMID:10931857 PMID:11090261 PMID:11113887 PMID:11317364 PMID:11432962 PMID:15024745 PMID:15241796 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16199547 PMID:16786509 PMID:16879195 PMID:17078022 PMID:17309652 PMID:17392686 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18409203 PMID:18412368 PMID:18553566 PMID:18670065 PMID:18704262 PMID:18996919 PMID:19344236 PMID:19550437 PMID:20696291 PMID:21249479 PMID:21567126 PMID:21594610 PMID:21667357 PMID:21884818 PMID:22589248 PMID:24147872 PMID:24390061 PMID:24668929 PMID:24767406 PMID:25086671 PMID:25146735 PMID:25525159 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26188975 PMID:26235824 PMID:26467025 PMID:26633542 PMID:27044453 PMID:27060301 PMID:27132807 PMID:27146342 PMID:27509835 PMID:27549894 PMID:27748872 PMID:28378289 PMID:28492532 PMID:28810924 PMID:29499418 PMID:29543232 PMID:29946973 PMID:30692697 PMID:30715774 PMID:31304589 PMID:32166892 PMID:32235935 PMID:33228694 PMID:33928192 PMID:33939306 More...
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NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular type CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3049731 PMID:3383844 PMID:7695699 PMID:7860070 PMID:8094076 PMID:8218237 PMID:9016532 PMID:9272740 PMID:9295084 PMID:9536098 PMID:9594376 PMID:15077201 PMID:16705691 PMID:16816023 PMID:17078022 PMID:17576681 PMID:19344236 PMID:22589248 PMID:25326637 PMID:25441681 PMID:25450603 PMID:25741868 PMID:25944380 PMID:26307460 PMID:26604951 PMID:27519266 PMID:28492532 PMID:32659730 More...
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NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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Abo |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
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Adamts13 |
ADAM metallopeptidase with thrombospondin type 1 motif, 13 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
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G |
Adamtsl2 |
ADAMTS-like 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554
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Aebp1 |
AE binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:25741868 PMID:30759870 |
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NCBI chr14:80,738,800...80,748,878
Ensembl chr14:80,738,892...80,748,877
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Ak8 |
adenylate kinase 8 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:12,028,895...12,144,468
Ensembl chr 3:12,028,954...12,144,465
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Barhl1 |
BarH-like homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:12,241,327...12,248,649
Ensembl chr 3:12,241,327...12,248,649
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Brd3 |
bromodomain containing 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,773,163...10,829,675
Ensembl chr 3:10,775,272...10,829,577
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Cacfd1 |
calcium channel flower domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,335,881...10,352,437
Ensembl chr 3:10,335,881...10,343,406
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Camsap1 |
calmodulin regulated spectrin-associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:8,746,176...8,806,072
Ensembl chr 3:8,746,176...8,806,072
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G |
Card9 |
caspase recruitment domain family, member 9 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
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Casd1 |
CAS1 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 4:32,658,888...32,739,224
Ensembl chr 4:32,658,748...32,739,202
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G |
Cel |
carboxyl ester lipase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035
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G |
Cfap77 |
cilia and flagella associated protein 77 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:12,258,453...12,381,319
Ensembl chr 3:12,258,453...12,381,319
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 |
ClinVar |
PMID:10739762 PMID:17211858 PMID:23587214 PMID:25597651 PMID:25741868 PMID:28102596 PMID:28492532 More...
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NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 |
ClinVar |
PMID:1978725 PMID:1990009 PMID:2052622 PMID:2454224 PMID:2777808 PMID:2824475 PMID:2985635 PMID:2993307 PMID:3372533 PMID:3680255 PMID:4742738 PMID:6092353 PMID:6773953 PMID:7693712 PMID:7695699 PMID:7749416 PMID:7860070 PMID:7891382 PMID:8081389 PMID:8081394 PMID:8094076 PMID:8218237 PMID:8829649 PMID:9016532 PMID:9099837 PMID:9240878 PMID:9272740 PMID:9399846 PMID:9536098 PMID:9594376 PMID:9923651 PMID:10027910 PMID:11288717 PMID:11317364 PMID:11359465 PMID:11836364 PMID:15077201 PMID:15172002 PMID:15241796 PMID:16199547 PMID:16705691 PMID:16786509 PMID:16816023 PMID:16879195 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18311573 PMID:18996919 PMID:19344236 PMID:19594296 PMID:21520333 PMID:21667357 PMID:22206639 PMID:22589248 PMID:22753364 PMID:23227268 PMID:23548243 PMID:23692737 PMID:23934635 PMID:24033266 PMID:24342908 PMID:24501682 PMID:24668929 PMID:25146735 PMID:25289482 PMID:25326637 PMID:25450603 PMID:25741868 PMID:25835785 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26307460 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26471105 PMID:26551090 PMID:26604951 PMID:26627451 PMID:27056980 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28378289 PMID:28492532 PMID:28498836 PMID:28725987 PMID:28810924 PMID:29595812 PMID:29620724 PMID:29656858 PMID:29807018 PMID:30152103 PMID:30283887 PMID:30715774 PMID:30886339 PMID:31039433 PMID:31141158 PMID:31363794 PMID:31414283 PMID:31794058 PMID:32659730 PMID:32667677 More...
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NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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Col3a1 |
collagen type III alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:20648054 PMID:22696272 PMID:23587214 PMID:24922459 PMID:28492532 |
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NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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G |
Col5a1 |
collagen type V alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 |
CTD ClinVar OMIM |
PMID:7695699 PMID:8218237 PMID:8575750 PMID:8752669 PMID:8923000 PMID:8950675 PMID:9042913 PMID:9536098 PMID:9683580 PMID:10471441 PMID:10602121 PMID:10777716 PMID:10796876 PMID:10946364 PMID:11992482 PMID:12145749 PMID:15264295 PMID:15580559 PMID:16199547 PMID:16751282 PMID:17576681 PMID:18972565 PMID:19011090 PMID:19019335 PMID:19344236 PMID:19370768 PMID:20301422 PMID:20635400 PMID:20979576 PMID:22696272 PMID:23587214 PMID:24033266 PMID:24088041 PMID:24685354 PMID:24951259 PMID:25640679 PMID:25741868 PMID:26608033 PMID:26633545 PMID:26854089 PMID:27011056 PMID:28166811 PMID:28454995 PMID:28492532 PMID:28550590 PMID:29924831 PMID:30858776 PMID:31064749 PMID:31903434 PMID:32581362 PMID:32720758 More...
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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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Col5a2 |
collagen type V alpha 2 chain |
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ISS ISO |
OMIM:130000 ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 |
MouseDO ClinVar |
PMID:2855059 PMID:9425231 PMID:9536098 PMID:9783710 PMID:11940702 PMID:15580559 PMID:16199547 PMID:17576681 PMID:20301422 PMID:20648054 PMID:22696272 PMID:23587214 PMID:24033266 PMID:24922459 PMID:25326637 PMID:25741868 PMID:28132693 PMID:28166811 PMID:28492532 PMID:28550590 PMID:28855619 PMID:28991257 PMID:31903434 More...
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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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Dbh |
dopamine beta-hydroxylase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248
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G |
Ddx31 |
DEAD-box helicase 31 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:12,172,829...12,238,392
Ensembl chr 3:12,172,836...12,238,873
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G |
Dnlz |
DNL-type zinc finger |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,169,948...9,171,881
Ensembl chr 3:9,169,793...9,180,551
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G |
Entr1 |
endosome associated trafficking regulator 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688
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G |
Fam163b |
family with sequence similarity 163, member B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,437,383...10,466,458
Ensembl chr 3:10,437,383...10,466,458
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G |
Fcnb |
ficolin B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,393,771...11,402,198
Ensembl chr 3:11,393,739...11,402,151
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
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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 |
Gbgt1 |
globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,826,131...11,829,745
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G |
Gfi1b |
growth factor independent 1B transcriptional repressor |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
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G |
Glt6d1 |
glycosyltransferase 6 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:8,627,793...8,638,537
Ensembl chr 3:8,627,911...8,636,335
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G |
Gpsm1 |
G-protein signaling modulator 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827
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G |
Gtf3c4 |
general transcription factor IIIC subunit 4 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:12,154,803...12,172,795
Ensembl chr 3:12,154,805...12,172,725
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G |
Gtf3c5 |
general transcription factor IIIC subunit 5 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,893,867...11,914,187
Ensembl chr 3:11,893,875...11,914,180
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G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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G |
Kcnt1 |
potassium sodium-activated channel subfamily T member 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
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G |
Lcn1 |
lipocalin 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,532,860...9,537,859
Ensembl chr 3:9,532,915...9,536,577
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G |
Lcn9 |
lipocalin 9 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:8,644,427...8,646,782
Ensembl chr 3:8,636,548...8,652,200
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G |
Lhx3 |
LIM homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
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G |
Lum |
lumican |
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ISS |
OMIM:130000 |
MouseDO |
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NCBI chr 7:32,358,990...32,365,794
Ensembl chr 7:32,358,614...32,365,793
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G |
Med12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,404,622...66,427,772
Ensembl chr X:66,404,760...66,428,387
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G |
Med22 |
mediator complex subunit 22 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:10,233,754...10,238,836
Ensembl chr 3:10,233,754...10,238,836
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G |
Med27 |
mediator complex subunit 27 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:12,629,593...12,803,340
Ensembl chr 3:12,629,603...12,803,339
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G |
Mrps2 |
mitochondrial ribosomal protein S2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:11,801,310...11,806,341
Ensembl chr 3:11,801,310...11,806,313
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G |
Myh11 |
myosin heavy chain 11 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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G |
Mymk |
myomaker, myoblast fusion factor |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,388,361...10,397,364
Ensembl chr 3:10,388,361...10,397,343
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G |
Nacc2 |
NACC family member 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660
|
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G |
Notch1 |
notch receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
|
|
G |
Ntng2 |
netrin G2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,492,574...12,551,104
Ensembl chr 3:12,492,639...12,545,890
|
|
G |
Obp2a |
odorant binding protein 2A |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,505,990...8,509,269
Ensembl chr 3:8,505,990...8,509,269
|
|
G |
Obp2b |
odorant binding protein 2B |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,582,074...8,585,258
Ensembl chr 3:8,582,074...8,585,258
|
|
G |
Olfm1 |
olfactomedin 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,520,522...11,558,240
Ensembl chr 3:11,520,729...11,558,239
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|
G |
Paep |
progestagen associated endometrial protein |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,531,136...8,534,430
Ensembl chr 3:8,531,138...8,534,430
|
|
G |
Pierce1 |
piercer of microtubule wall 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,797,031...11,801,568
Ensembl chr 3:11,797,031...11,801,568
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|
G |
Pmpca |
peptidase, mitochondrial processing subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
|
|
G |
Pomt1 |
protein-O-mannosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
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|
G |
Ppp1r26 |
protein phosphatase 1, regulatory subunit 26 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,781,504...11,790,076
Ensembl chr 3:11,781,295...11,790,073
|
|
G |
Qsox2 |
quiescin sulfhydryl oxidase 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664
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|
G |
Ralgds |
ral guanine nucleotide dissociation stimulator |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,839,686...11,880,059
Ensembl chr 3:11,839,416...11,880,059
|
|
G |
Rapgef1 |
Rap guanine nucleotide exchange factor 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,898,349...13,016,234
Ensembl chr 3:12,898,266...13,013,984
|
|
G |
Rexo4 |
REX4 homolog, 3'-5' exonuclease |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,280,654...10,291,003
Ensembl chr 3:10,280,654...10,290,996
|
|
G |
Rnu6atac |
RNA, U6atac small nuclear |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:211,550,817...211,550,946
Ensembl chr 2:211,550,817...211,550,946
|
|
G |
Rpl7a |
ribosomal protein L7A |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,239,026...10,241,703
Ensembl chr 3:10,239,001...10,241,716
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|
G |
Rxra |
retinoid X receptor alpha |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
|
|
G |
Sardh |
sarcosine dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,510,553...10,575,342
Ensembl chr 3:10,510,553...10,573,874
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G |
Sec16a |
SEC16 homolog A, endoplasmic reticulum export factor |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273
|
|
G |
Setx |
senataxin |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
|
|
G |
Sgce |
sarcoglycan, epsilon |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:32,771,477...32,842,238
Ensembl chr 4:32,771,477...32,842,254
|
|
G |
Slc2a10 |
solute carrier family 2 member 10 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
|
|
NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690
|
|
G |
Slc2a6 |
solute carrier family 2 member 6 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,348,395...10,355,208
Ensembl chr 3:10,348,395...10,355,208
|
|
G |
Slc40a1 |
solute carrier family 40 member 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:20648054 PMID:23587214 PMID:28492532 |
|
NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481
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|
G |
Snapc4 |
small nuclear RNA activating complex, polypeptide 4 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518
|
|
G |
Sohlh1 |
spermatogenesis and oogenesis specific basic helix-loop-helix 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388
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|
G |
Spaca9 |
sperm acrosome associated 9 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,019,376...12,028,801
Ensembl chr 3:12,019,363...12,029,119
|
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G |
Stkld1 |
serine/threonine kinase-like domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,261,583...10,280,850
Ensembl chr 3:10,261,828...10,280,566
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|
G |
Surf1 |
SURF1, cytochrome c oxidase assembly factor |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
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|
G |
Surf2 |
surfeit 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,244,654...10,248,502
Ensembl chr 3:10,244,654...10,250,077
|
|
G |
Surf4 |
surfeit 4 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,248,360...10,261,537
Ensembl chr 3:10,241,837...10,263,315
|
|
G |
Surf6 |
surfeit 6 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,221,450...10,232,306
Ensembl chr 3:10,221,452...10,232,251
|
|
G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:30675029 |
|
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
|
|
G |
Tmem250 |
transmembrane protein 250 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349
|
|
G |
Tsc1 |
TSC complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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|
G |
Ttf1 |
transcription termination factor 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:12,384,626...12,409,257
Ensembl chr 3:12,384,655...12,409,257
|
|
G |
Ubac1 |
UBA domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028
|
|
G |
Uck1 |
uridine-cytidine kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:15,538,580...15,544,465
Ensembl chr 3:15,538,591...15,544,465
|
|
G |
Vav2 |
vav guanine nucleotide exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,584,688...10,754,128
Ensembl chr 3:10,584,688...10,754,052
|
|
G |
Wdr5 |
WD repeat domain 5 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:10,836,964...10,856,682
Ensembl chr 3:10,837,025...10,856,671
|
|
G |
Wdr75 |
WD repeat domain 75 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:20648054 PMID:23587214 PMID:28492532 |
|
NCBI chr 9:47,903,166...47,933,399
Ensembl chr 9:47,903,200...47,933,399
|
|
|
G |
Col5a1 |
collagen type V alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: EHLERS DANLOS SYNDROME, MITIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 |
CTD ClinVar |
PMID:8752669 PMID:9042913 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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G |
Col5a2 |
collagen type V alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 |
OMIM ClinVar |
PMID:2855059 PMID:11940702 PMID:24033266 PMID:25741868 PMID:28132693 PMID:28492532 PMID:28550590 More...
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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 |
Tnxb |
tenascin XB |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency |
OMIM ClinVar |
PMID:1620134 PMID:9288108 PMID:11642233 PMID:11925569 PMID:12865992 PMID:15733269 PMID:20649799 PMID:20853426 PMID:23284009 PMID:23768946 PMID:24033266 PMID:24088041 PMID:25333069 PMID:25741868 PMID:26075496 PMID:26633545 PMID:28344932 PMID:31731524 More...
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|
|
|
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G |
Aebp1 |
AE binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 2 |
OMIM ClinVar |
PMID:16199547 PMID:25741868 PMID:27023906 PMID:28492532 PMID:29606302 PMID:30548383 More...
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|
NCBI chr14:80,738,800...80,748,878
Ensembl chr14:80,738,892...80,748,877
|
|
|
G |
Adamts2 |
ADAM metallopeptidase with thrombospondin type 1 motif, 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type DNA:deletions: : |
OMIM ClinVar RGD |
PMID:1642226 PMID:7735500 PMID:8215497 PMID:8986271 PMID:9536098 PMID:10417273 PMID:15373769 PMID:15389701 PMID:16199547 PMID:17576681 PMID:18973246 PMID:22863189 PMID:23495203 PMID:25640679 PMID:25741868 PMID:28346524 PMID:28492532 PMID:29843651 PMID:15373769 More...
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RGD:1598738 |
NCBI chr10:34,920,996...35,126,465
Ensembl chr10:34,921,049...35,123,821
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G |
Canx |
calnexin |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:28492532 |
|
NCBI chr10:34,623,865...34,656,866
Ensembl chr10:34,625,191...34,656,821
|
|
G |
Cby3 |
chibby family member 3 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:28492532 |
|
NCBI chr10:34,680,926...34,683,176
Ensembl chr10:34,677,770...34,682,784
|
|
G |
Grm6 |
glutamate metabotropic receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:28492532 |
|
NCBI chr10:35,167,985...35,182,717
Ensembl chr10:35,167,985...35,182,717
|
|
G |
Hnrnph1 |
heterogeneous nuclear ribonucleoprotein H1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:28492532 |
|
NCBI chr10:34,692,868...34,702,849
Ensembl chr10:34,693,555...34,702,846
|
|
G |
Ltc4s |
leukotriene C4 synthase |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:28492532 |
|
NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651
|
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G |
Maml1 |
mastermind-like transcriptional coactivator 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:28492532 |
|
NCBI chr10:34,588,639...34,624,298
Ensembl chr10:34,588,646...34,623,338
|
|
G |
Mgat4b |
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:28492532 |
|
NCBI chr10:34,548,918...34,559,229
Ensembl chr10:34,549,433...34,559,229
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|
G |
Rufy1 |
RUN and FYVE domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:28492532 |
|
NCBI chr10:34,705,741...34,750,644
Ensembl chr10:34,705,741...34,750,644
|
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G |
Spata31d1c |
spermatogenesis associated 31 subfamily D, member 1C |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:160,144...164,208
Ensembl chr17:159,398...164,270
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G |
Sqstm1 |
sequestosome 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:28492532 |
|
NCBI chr10:34,525,517...34,536,685
Ensembl chr10:34,525,519...34,536,673
|
|
G |
Zfp354c |
zinc finger protein 354C |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:28492532 |
|
NCBI chr10:35,129,720...35,145,717
Ensembl chr10:35,132,959...35,145,661
|
|
G |
Zfp879 |
zinc finger protein 879 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type |
ClinVar |
PMID:28492532 |
|
NCBI chr10:35,148,679...35,158,674
Ensembl chr10:35,148,679...35,158,674
|
|
|
G |
Col3a1 |
collagen type III alpha 1 chain |
|
ISO |
DNA:missense mutation: :p.G637S (2512G>A) (human) ClinVar Annotator: match by term: Ehlers-Danlos Syndrome, Hypermobility Type |
ClinVar RGD |
PMID:25741868 PMID:25758994 PMID:26854089 PMID:28087566 PMID:28492532 PMID:29590070 PMID:30087447 PMID:31075413 PMID:31531849 PMID:7833919 More...
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RGD:11041770 |
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
|
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G |
Notch1 |
notch receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 |
ClinVar |
|
|
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
|
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G |
Tnxb |
tenascin XB |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 |
ClinVar |
PMID:25326637 |
|
|
|
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G |
Mfn2 |
mitofusin 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient |
ClinVar |
|
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NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
|
|
G |
Nppa |
natriuretic peptide A |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
|
|
G |
Nppb |
natriuretic peptide B |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
|
|
G |
Plod1 |
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:222849 PMID:416188 PMID:1345174 PMID:3110540 PMID:3931636 PMID:4373475 PMID:5016372 PMID:6089551 PMID:7977351 PMID:8163671 PMID:8449506 PMID:8533783 PMID:8574422 PMID:8981946 PMID:9152832 PMID:9220536 PMID:9450904 PMID:9536098 PMID:9617436 PMID:9893157 PMID:10329027 PMID:10502784 PMID:10686424 PMID:10874315 PMID:11001813 PMID:14565595 PMID:15666309 PMID:16199547 PMID:16758144 PMID:17576681 PMID:19320026 PMID:21699693 PMID:22001912 PMID:25277362 PMID:25326635 PMID:25637337 PMID:25640679 PMID:25741868 PMID:28384719 PMID:28492532 More...
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NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
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RGD1305350 |
similar to RIKEN cDNA 2510039O18 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:158,371,925...158,378,195
Ensembl chr 5:158,371,955...158,378,195
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Aqp1 |
aquaporin 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
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NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
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Crhr2 |
corticotropin releasing hormone receptor 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
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NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904
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Fkbp14 |
FKBP prolyl isomerase 14 |
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ISO |
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22265013 PMID:24677762 PMID:25741868 PMID:27149304 PMID:27905128 PMID:28492532 PMID:28617417 PMID:30561154 PMID:31063316 PMID:31132235 More...
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NCBI chr 4:83,705,531...83,721,515
Ensembl chr 4:83,705,652...83,721,528
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Gars1 |
glycyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
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NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
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G |
Ggct |
gamma-glutamyl cyclotransferase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
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NCBI chr 4:84,122,921...84,129,327
Ensembl chr 4:84,123,118...84,129,277
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Ghrhr |
growth hormone releasing hormone receptor |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
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NCBI chr 4:84,498,159...84,532,847
Ensembl chr 4:84,500,212...84,532,776
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Inmt |
indolethylamine N-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
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NCBI chr 4:84,318,197...84,322,493
Ensembl chr 4:84,318,197...84,322,493
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G |
Mindy4 |
MINDY lysine 48 deubiquitinase 4 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
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NCBI chr 4:84,358,660...84,469,189
Ensembl chr 4:84,358,902...84,463,395
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Mturn |
maturin, neural progenitor differentiation regulator homolog |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
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NCBI chr 4:83,807,528...83,828,494
Ensembl chr 4:83,807,579...83,824,950
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Nod1 |
nucleotide-binding oligomerization domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
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NCBI chr 4:84,060,871...84,111,668
Ensembl chr 4:84,060,880...84,111,404
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Plekha8 |
pleckstrin homology domain containing A8 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
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NCBI chr 4:83,723,470...83,774,081
Ensembl chr 4:83,723,561...83,774,081
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Znrf2 |
zinc and ring finger 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
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NCBI chr 4:83,950,406...84,032,676
Ensembl chr 4:83,949,309...84,027,818
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Chst14 |
carbohydrate sulfotransferase 14 |
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ISO |
ClinVar Annotator: match by term: Adducted Thumb-Clubfoot Syndrome | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1184396 PMID:9084938 PMID:10766984 PMID:11370633 PMID:12508273 PMID:16158441 PMID:20004762 PMID:20503305 PMID:20533528 PMID:20842734 PMID:21744491 PMID:22581468 PMID:25741868 PMID:26373698 PMID:26872206 PMID:26925854 PMID:28238810 PMID:28306225 PMID:28346368 PMID:28492532 PMID:31905796 PMID:32629534 More...
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NCBI chr 3:105,916,481...105,918,538
Ensembl chr 3:105,916,466...105,918,548
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Dse |
dermatan sulfate epimerase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 |
OMIM ClinVar |
PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532 |
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NCBI chr20:26,118,194...26,196,889
Ensembl chr20:26,118,196...26,196,992
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C1r |
complement C1r |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 |
OMIM ClinVar |
PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 PMID:27663155 PMID:27745832 PMID:33268848 More...
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NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
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G |
C1s |
complement C1s |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 |
ClinVar |
PMID:27745832 |
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NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
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G |
C1r |
complement C1r |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 |
ClinVar |
PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:27663155 PMID:27745832 More...
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NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
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C1s |
complement C1s |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 |
OMIM ClinVar |
PMID:25741868 PMID:27745832 PMID:28492532 |
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NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
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G |
B3galt6 |
Beta-1,3-galactosyltransferase 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
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G |
B4galt7 |
beta-1,4-galactosyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr17:9,018,514...9,027,591
Ensembl chr17:9,018,935...9,027,573
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Acap3 |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,500,781...166,515,477
Ensembl chr 5:166,500,781...166,515,481
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Actrt2 |
actin-related protein T2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
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Agrn |
agrin |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
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Ankrd65 |
ankyrin repeat domain 65 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
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G |
Arhgef16 |
Rho guanine nucleotide exchange factor 16 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,843,656...164,866,212
Ensembl chr 5:164,844,161...164,866,212
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Atad3a |
ATPase family, AAA domain containing 3A |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
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G |
B3galt6 |
Beta-1,3-galactosyltransferase 6 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
OMIM ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:23664117 PMID:24766538 PMID:25149931 PMID:25741868 PMID:27023906 PMID:28229453 PMID:28492532 PMID:28649518 PMID:29230159 PMID:29443383 PMID:29620724 PMID:29931299 PMID:31674007 More...
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NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
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G |
B4galt7 |
beta-1,4-galactosyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:1221956 PMID:1640425 PMID:3631078 PMID:9536098 PMID:10473568 PMID:10506123 PMID:15211654 PMID:17576681 PMID:18158310 PMID:20691685 PMID:20809901 PMID:23956117 PMID:24755949 PMID:25533962 PMID:25741868 PMID:26940150 PMID:28492532 PMID:28882145 PMID:30914273 PMID:31278392 PMID:32429945 More...
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NCBI chr17:9,018,514...9,027,591
Ensembl chr17:9,018,935...9,027,573
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G |
C1qtnf12 |
C1q and TNF related 12 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003
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G |
Ccdc27 |
coiled-coil domain containing 27 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,585,285...164,599,391
Ensembl chr 5:164,585,267...164,599,355
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G |
Ccnl2 |
cyclin L2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882
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G |
Cdk11b |
cyclin-dependent kinase 11B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
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Cep104 |
centrosomal protein 104 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248
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G |
Cfap74 |
cilia and flagella associated protein 74 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
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G |
Cptp |
ceramide-1-phosphate transfer protein |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017
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G |
Dbn1 |
drebrin 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,150,608...9,164,982
Ensembl chr17:9,150,659...9,164,984
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G |
Ddx41 |
DEAD-box helicase 41 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415
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G |
Dok3 |
docking protein 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,109,633...9,115,188
Ensembl chr17:9,109,597...9,115,188
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G |
Dvl1 |
dishevelled segment polarity protein 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
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G |
Eif4e1b |
eukaryotic translation initiation factor 4E family member 1B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,831,338...9,856,250
Ensembl chr17:9,832,230...9,835,137
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G |
F12 |
coagulation factor XII |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
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G |
Faap20 |
FA core complex associated protein 20 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333
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G |
Fam193b |
family with sequence similarity 193, member B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,066,818...9,099,511
Ensembl chr17:9,066,707...9,099,508
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G |
Fgfr4 |
fibroblast growth factor receptor 4 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242
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G |
Fndc10 |
fibronectin type III domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326
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G |
Gabrd |
gamma-aminobutyric acid type A receptor subunit delta |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411
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G |
Gnb1 |
G protein subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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G |
Grk6 |
G protein-coupled receptor kinase 6 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,177,018...9,192,644
Ensembl chr17:9,177,019...9,192,644
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G |
Hes5 |
hes family bHLH transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001
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G |
Hk3 |
hexokinase 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,596,950...9,614,847
Ensembl chr17:9,599,865...9,614,863
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G |
Ints11 |
integrator complex subunit 11 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
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G |
Isg15 |
ISG15 ubiquitin-like modifier |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435
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G |
Klhl17 |
kelch-like family member 17 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,813,482...166,819,949
Ensembl chr 5:166,814,110...166,818,925
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G |
Lman2 |
lectin, mannose-binding 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,269,236...9,286,923
Ensembl chr17:9,269,022...9,287,265
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G |
Lrrc47 |
leucine rich repeat containing 47 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,570,539...164,580,174
Ensembl chr 5:164,570,435...164,580,174
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G |
Megf6 |
multiple EGF-like-domains 6 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,738,272...164,839,142
Ensembl chr 5:164,738,352...164,839,139
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G |
Mib2 |
MIB E3 ubiquitin protein ligase 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650
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G |
Mir200a |
microRNA 200a |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,648,494...166,648,582
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G |
Mir200b |
microRNA 200b |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
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G |
Mir429 |
microRNA 429 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
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G |
Mmel1 |
membrane metallo-endopeptidase-like 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
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G |
Mmp23 |
matrix metallopeptidase 23 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433
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G |
Morn1 |
MORN repeat containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892
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G |
Mrpl20 |
mitochondrial ribosomal protein L20 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492
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G |
Mxd3 |
Max dimerization protein 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,301,430...9,305,156
Ensembl chr17:9,301,399...9,305,157
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G |
Mxra8 |
matrix remodeling associated 8 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636
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G |
Nadk |
NAD kinase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322
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G |
Noc2l |
NOC2-like nucleolar associated transcriptional repressor |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,820,075...166,831,951
Ensembl chr 5:166,820,161...166,831,949
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G |
Nsd1 |
nuclear receptor binding SET domain protein 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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G |
Pank4 |
pantothenate kinase 4 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135
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G |
Pdlim7 |
PDZ and LIM domain 7 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,124,565...9,139,814
Ensembl chr17:9,124,649...9,139,811
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G |
Pex10 |
peroxisomal biogenesis factor 10 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
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G |
Pfn3 |
profilin 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,217,595...9,218,122
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G |
Plch2 |
phospholipase C, eta 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356
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G |
Plekhn1 |
pleckstrin homology domain containing N1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,805,309...166,813,339
Ensembl chr 5:166,804,837...166,813,155
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G |
Prdm16 |
PR/SET domain 16 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
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G |
Prelid1 |
PRELI domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,305,349...9,308,389
Ensembl chr17:9,305,361...9,308,407
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G |
Prkcz |
protein kinase C, zeta |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
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G |
Prop1 |
PROP paired-like homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr10:35,271,959...35,274,434
Ensembl chr10:35,271,973...35,274,434
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G |
Prr7 |
proline rich 7 (synaptic) |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,164,375...9,173,669
Ensembl chr17:9,165,269...9,172,536
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G |
Prxl2b |
peroxiredoxin like 2B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,462,610...165,465,213
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G |
Pusl1 |
pseudouridine synthase like 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,496,755...166,500,611
Ensembl chr 5:166,496,755...166,500,611
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G |
Rab24 |
RAB24, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,308,363...9,310,568
Ensembl chr17:9,308,525...9,310,553
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G |
Rer1 |
retention in endoplasmic reticulum sorting receptor 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
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G |
RGD1311517 |
similar to RIKEN cDNA 9430015G10 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955
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G |
Rgs14 |
regulator of G-protein signaling 14 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,248,982...9,263,104
Ensembl chr17:9,249,019...9,263,104
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G |
Rnf223 |
ring finger protein 223 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,720,408...166,726,236
Ensembl chr 5:166,724,984...166,725,751
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G |
Samd11 |
sterile alpha motif domain containing 11 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,831,663...166,859,805
Ensembl chr 5:166,831,663...166,850,009
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G |
Sdf4 |
stromal cell derived factor 4 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
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G |
Ski |
Ski proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
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G |
Slc34a1 |
solute carrier family 34 member 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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G |
Slc35e2b |
solute carrier family 35, member E2B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
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G |
Smim1 |
small integral membrane protein 1 (Vel blood group) |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,579,327...164,584,650
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G |
Sncb |
synuclein, beta |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012
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G |
Ssu72 |
SSU72 homolog, RNA polymerase II CTD phosphatase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429
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G |
Tas1r3 |
taste 1 receptor member 3 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,469,589...166,472,742
Ensembl chr 5:166,469,589...166,472,742
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G |
Tmed9 |
transmembrane p24 trafficking protein 9 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,029,646...9,034,160
Ensembl chr17:9,029,646...9,034,176
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G |
Tmem240 |
transmembrane protein 240 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636
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G |
Tmem52 |
transmembrane protein 52 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,048,667...166,050,423
Ensembl chr 5:166,046,565...166,050,433
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G |
Tmem88b |
transmembrane protein 88B |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904
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G |
Tnfrsf14 |
TNF receptor superfamily member 14 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
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G |
Tnfrsf18 |
TNF receptor superfamily member 18 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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G |
Tnfrsf4 |
TNF receptor superfamily member 4 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
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G |
Tp73 |
tumor protein p73 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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G |
Tprg1l |
tumor protein p63 regulated 1-like |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:164,722,151...164,725,358
Ensembl chr 5:164,710,285...164,725,425
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G |
Tspan17 |
tetraspanin 17 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,819,212...9,826,851
Ensembl chr17:9,819,202...9,826,834
|
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G |
Ttc34 |
tetratricopeptide repeat domain 34 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857
|
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G |
Ttll10 |
tubulin tyrosine ligase like 10 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707
|
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G |
Ube2j2 |
ubiquitin-conjugating enzyme E2, J2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804
|
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G |
Uimc1 |
ubiquitin interaction motif containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,523,793...9,592,810
Ensembl chr17:9,527,794...9,592,799
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G |
Unc5a |
unc-5 netrin receptor A |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
|
NCBI chr17:9,614,841...9,670,558
Ensembl chr17:9,614,838...9,670,526
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G |
Vwa1 |
von Willebrand factor A domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
|
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G |
Wrap73 |
WD repeat containing, antisense to TP73 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,706,112...164,721,645
Ensembl chr 5:164,706,163...164,721,643
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G |
Zfp346 |
zinc finger protein 346 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,493,789...9,523,681
Ensembl chr17:9,493,803...9,523,635
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G |
Slc39a13 |
solute carrier family 39 member 13 |
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ISO |
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 | ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like DNA:deletion:cds:c.483_491del9 (human) |
OMIM ClinVar RGD |
PMID:9536098 PMID:17576681 PMID:18513683 PMID:18985159 PMID:24033266 PMID:25007800 PMID:25741868 PMID:28492532 PMID:18513683 More...
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RGD:11553863 |
NCBI chr 3:77,039,411...77,047,536
Ensembl chr 3:77,037,565...77,049,226
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G |
Col3a1 |
collagen type III alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 |
ClinVar |
PMID:1352273 PMID:1357232 PMID:1370809 PMID:1496983 PMID:1568754 PMID:1619632 PMID:1672129 PMID:1757960 PMID:1895316 PMID:1939638 PMID:1998337 PMID:2002056 PMID:2049575 PMID:2145268 PMID:2235526 PMID:2243125 PMID:2349939 PMID:2365710 PMID:2492273 PMID:2583342 PMID:2710295 PMID:2771024 PMID:2808425 PMID:2834369 PMID:2981879 PMID:3076851 PMID:3162228 PMID:3204406 PMID:6477831 PMID:6507506 PMID:7230200 PMID:7581395 PMID:7695699 PMID:7749417 PMID:7912131 PMID:8098182 PMID:8218237 PMID:8320698 PMID:8477261 PMID:8514866 PMID:8664902 PMID:8680408 PMID:8881656 PMID:8990011 PMID:9036918 PMID:9147870 PMID:9399899 PMID:9536098 PMID:9546243 PMID:9841712 PMID:10051163 PMID:10706896 PMID:10923041 PMID:10928898 PMID:11577371 PMID:12131463 PMID:12694234 PMID:12786757 PMID:16199547 PMID:16751282 PMID:17053184 PMID:17122455 PMID:17251678 PMID:17576681 PMID:18043893 PMID:18272325 PMID:19011090 PMID:19344236 PMID:19424605 PMID:19695909 PMID:19993915 PMID:20052764 PMID:20518783 PMID:20648054 PMID:21086191 PMID:21520333 PMID:21533953 PMID:21637106 PMID:21984974 PMID:22001912 PMID:22019127 PMID:22038052 PMID:22492385 PMID:22647446 PMID:22696272 PMID:22713205 PMID:23148498 PMID:23234825 PMID:23293852 PMID:23587214 PMID:24033266 PMID:24036952 PMID:24055113 PMID:24399159 PMID:24650746 PMID:24922459 PMID:24951259 PMID:25149929 PMID:25205403 PMID:25326637 PMID:25503501 PMID:25637381 PMID:25640679 PMID:25644172 PMID:25741868 | |