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: | blood coagulation disease |
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Accession: | DOID:1247
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browse the term
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Definition: | A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding. (DO) |
Synonyms: | exact_synonym: | Blood Coagulation Disorder; Blood Coagulation Disorders; postpartum coagulation defect; postpartum coagulation defect with delivery |
| narrow_synonym: | protein Z deficiency |
| related_synonym: | FIBRINOGEN MILANO XII, DIGENIC |
| primary_id: | MESH:D001778 |
| alt_id: | DOID:2212 |
| xref: | ICD10CM:D68.9; ICD9CM:286; NCI:C2902 |
For additional species annotation, visit the
Alliance of Genome Resources.
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F10 |
coagulation factor X |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:62897 |
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NCBI chr16:81,803,169...81,822,476
Ensembl chr16:81,803,110...81,822,716
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F2 |
coagulation factor II |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17721328 |
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NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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F5 |
coagulation factor V |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17721328 |
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NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
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F7 |
coagulation factor VII |
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ISO |
ClinVar Annotator: match by term: Blood coagulation disorder |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
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F8 |
coagulation factor VIII |
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ISO |
ClinVar Annotator: match by term: Blood coagulation disorder |
ClinVar |
PMID:1301932 PMID:8485051 PMID:25741868 PMID:31064749 |
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NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
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F9 |
coagulation factor IX |
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ISO |
ClinVar Annotator: match by term: Blood coagulation disorder |
ClinVar |
PMID:25326637 PMID:25741868 PMID:31064749 |
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NCBI chr X:143,097,507...143,141,791
Ensembl chr X:143,097,525...143,141,794
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Fgg |
fibrinogen gamma chain |
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ISO |
ClinVar Annotator: match by term: Fibrinogen milano xii, digenic |
ClinVar |
PMID:11435303 PMID:25741868 PMID:28492532 PMID:31064749 |
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NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514
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Ggcx |
gamma-glutamyl carboxylase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19141161 |
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NCBI chr 4:100,277,345...100,293,097
Ensembl chr 4:100,277,391...100,293,250
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Gnaq |
G protein subunit alpha q |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9296496 |
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NCBI chr 1:233,382,778...233,622,584
Ensembl chr 1:233,382,708...233,622,786
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Hmox1 |
heme oxygenase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9884342 |
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NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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Plat |
plasminogen activator, tissue type |
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ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:1420814 |
RGD:11541080 |
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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Proc |
protein C, inactivator of coagulation factors Va and VIIIa |
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ISO |
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RGD |
PMID:19333141 |
RGD:11100017 |
NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
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Pros1 |
protein S |
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ISO |
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RGD |
PMID:19729839 |
RGD:11250417 |
NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
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Proz |
protein Z, vitamin K-dependent plasma glycoprotein |
severity |
ISO |
ClinVar Annotator: match by term: Protein Z deficiency |
ClinVar |
PMID:15626740, PMID:10829076 |
RGD:1580102 |
NCBI chr16:81,784,348...81,797,889
Ensembl chr16:81,784,348...81,797,815
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Serpinc1 |
serpin family C member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:62897 |
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NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
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Vkorc1 |
vitamin K epoxide reductase complex, subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19141161 |
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NCBI chr 1:199,338,785...199,341,306
Ensembl chr 1:199,337,138...199,341,302
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Vwf |
von Willebrand factor |
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ISO |
ClinVar Annotator: match by term: Blood coagulation disorder |
ClinVar |
PMID:1419803 PMID:1557393 PMID:1581215 PMID:1672694 PMID:1832934 PMID:1906877 PMID:1918030 PMID:2010538 PMID:6773982 PMID:8500791 PMID:8630394 PMID:9684781 PMID:9723578 PMID:12211196 PMID:15041272 PMID:15461624 PMID:15670054 PMID:16115133 PMID:16953269 PMID:16985174 PMID:17190853 PMID:18712522 PMID:19740526 PMID:20301765 PMID:20409624 PMID:20586924 PMID:20981092 PMID:21371195 PMID:22077376 PMID:22197721 PMID:22875612 PMID:23426949 PMID:23636243 PMID:23648131 PMID:23819767 PMID:24029428 PMID:24033266 PMID:24928861 PMID:25741868 PMID:26207643 PMID:26467025 PMID:27029718 PMID:27320760 PMID:28581694 PMID:28916584 PMID:28971901 PMID:29590070 PMID:31064749 |
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NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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Serpine1 |
serpin family E member 1 |
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IEP |
associated with Sepsis;protein:increased activity:lung (rat) |
RGD |
PMID:18182560 |
RGD:11080962 |
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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Plat |
plasminogen activator, tissue type |
treatment |
IDA IEP |
protein:increased expression:serum (rat) |
RGD |
PMID:25325345, PMID:25676919 |
RGD:11554179, RGD:11554180 |
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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Serpinf2 |
serpin family F member 2 |
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ISO |
ClinVar Annotator: match by null ClinVar Annotator: match by OMIM:262850 |
OMIM ClinVar |
PMID:2496145 PMID:7095605 PMID:10583218 |
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NCBI chr10:62,264,247...62,272,353
Ensembl chr10:62,264,788...62,273,119
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Serpinc1 |
serpin family C member 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Antithrombin III deficiency ClinVar Annotator: match by term: Antithrombin deficiency ClinVar Annotator: match by term: Reduced antithrombin III activity ClinVar Annotator: match by OMIM:613118 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Thrombophilia due to antithrombin III deficiency ClinVar Annotator: match by term: Antithrombin deficiency, UMLS OMIM term: THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY ClinVar Annotator: match by null |
ClinVar CTD OMIM |
PMID:1325679 PMID:1421387 PMID:1469094 PMID:1483705 PMID:1483709 PMID:1536946 PMID:1551681 PMID:1555650 PMID:1868237 PMID:1873224 PMID:1906811 PMID:1932746 PMID:1977621 PMID:1998601 PMID:2012760 PMID:2093312 PMID:2229057 PMID:2336381 PMID:2349545 PMID:2365065 PMID:2372510 PMID:2602168 PMID:2615648 PMID:2794060 PMID:2917133 PMID:2983542 PMID:3055413 PMID:3080419 PMID:3141397 PMID:3162733 PMID:3169232 PMID:3179438 PMID:3179448 PMID:3187951 PMID:3191114 PMID:3238650 PMID:3350974 PMID:3360140 PMID:3413737 PMID:3472589 PMID:3512602 PMID:3563974 PMID:3567355 PMID:3580302 PMID:3605071 PMID:3663508 PMID:3663935 PMID:3715788 PMID:3775688 PMID:3805013 PMID:3828226 PMID:3960724 PMID:4049307 PMID:4082101 PMID:6204398 PMID:6435583 PMID:6572945 PMID:6582486 PMID:6636045 PMID:6871107 PMID:6871478 PMID:7082587 PMID:7949130 PMID:7981186 PMID:7989582 PMID:8217824 PMID:8443391 PMID:8476848 PMID:9157604 PMID:9845533 PMID:10361121 PMID:10823268 PMID:11686319 PMID:11713457 PMID:12399451 PMID:12591924 PMID:14347873 PMID:15164384 PMID:16620552 PMID:16705712 PMID:16956830 PMID:18954896 PMID:20088933 PMID:21264449 PMID:21325262 PMID:22481271 PMID:22498748 PMID:22627591 PMID:23358206 PMID:23910795 PMID:24072242 PMID:24082793 PMID:24121110 PMID:24158114 PMID:24162787 PMID:24889358 PMID:24956267 PMID:25637381 PMID:25741868 PMID:25837307 PMID:26748602 PMID:27098529 PMID:27283015 PMID:27322195 PMID:27749296 PMID:28300866 PMID:28317092 PMID:28492532 PMID:28607330 PMID:28743742 PMID:29153735 PMID:29215785 PMID:29662868 PMID:30046692 PMID:31064749, PMID:3162535 |
RGD:1599321 |
NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
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Adamts13 |
ADAM metallopeptidase with thrombospondin type 1 motif, 13 |
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ISO |
protein:decreased activity:serum (human) |
RGD |
PMID:12640381 |
RGD:10449096 |
NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
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Baat |
bile acid CoA:amino acid N-acyltransferase |
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ISO |
ClinVar Annotator: match by term: atypical hemolytic uremic syndrome |
ClinVar |
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NCBI chr 5:64,768,397...64,777,368
Ensembl chr 5:64,768,401...64,777,368
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C2 |
complement C2 |
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ISO |
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 |
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 |
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NCBI chr20:4,542,340...4,561,152
Ensembl chr20:4,542,340...4,561,152
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C3 |
complement C3 |
susceptibility |
ISO |
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:612925 DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human) |
ClinVar CTD OMIM |
PMID:1976733 PMID:14639503 PMID:17634448 PMID:18325906 PMID:18796626 PMID:19168221 PMID:20301541 PMID:20595690 PMID:23314101 PMID:23431077 PMID:24036949 PMID:24036950 PMID:24036952 PMID:24736606 PMID:24845532 PMID:25608561 PMID:25741868 PMID:25951460 PMID:26613027 PMID:28492532, PMID:17517971, PMID:20513133 |
RGD:7364995, RGD:11040768 |
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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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 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869
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Cd46 |
CD46 molecule |
susceptibility severity |
ISO |
ClinVar Annotator: match by OMIM:612922 ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome 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) DNA:mutations:cds:multiple (human) |
ClinVar OMIM CTD |
PMID:270646 PMID:3480783 PMID:9551389 PMID:10528197 PMID:14566051 PMID:14615110 PMID:16621965 PMID:16762990 PMID:16882452 PMID:17089378 PMID:20513133 PMID:21706448 PMID:23431077 PMID:23731345 PMID:24033266 PMID:24161037 PMID:24247905 PMID:24944786 PMID:25381125 PMID:25525159 PMID:25741868 PMID:25899302 PMID:26054645 PMID:26307634 PMID:26559391 PMID:28056875 PMID:28492532, PMID:16353080, PMID:20513133, PMID:17914026, PMID:20595690 |
RGD:11352810, RGD:11040768, RGD:11352768, RGD:11038684 |
NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
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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 Annotator: match by OMIM:612924 |
ClinVar OMIM CTD |
PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 PMID:15661753 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:17182750, PMID:20513133 |
RGD:7242707, RGD:11040768 |
NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066 Ensembl chr20:4,536,203...4,561,066
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Cfh |
complement factor H |
susceptibility |
ISO IMP |
DNA:missense mutation ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical 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, missense mutations, splice-site mutation: :multiple ClinVar Annotator: match by OMIM:235400 DNA:deletion:Cds: DNA:SNPs,Haplotype:: |
ClinVar OMIM CTD |
PMID:646435 PMID:8072530 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:16619239 PMID:17018561 PMID:17947292 PMID:18252712 PMID:18268093 PMID:18557729 PMID:19190809 PMID:19259132 PMID:19297022 PMID:21415311 PMID:21909106 PMID:22019782 PMID:22171659 PMID:22223606 PMID:22389686 PMID:22403278 PMID:22456601 PMID:23852337 PMID:24036949 PMID:24498017 PMID:25037630 PMID:25741868 PMID:25814826 PMID:25880396 PMID:26559391 PMID:28492532, PMID:10577907, PMID:9811382, PMID:23243267, PMID:20513133, PMID:17517971, PMID:17517971, PMID:17517971 |
RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995, RGD:7364995, RGD:7364995 |
NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
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Cfhr1 |
complement factor H-related 1 |
susceptibility |
ISO |
ClinVar Annotator: match by OMIM:235400 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to DNA:deletion |
ClinVar CTD OMIM |
PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825, PMID:23243267 |
RGD:11041162 |
NCBI chr13:56,862,666...56,877,650
Ensembl chr13:56,836,994...56,877,650
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Cfi |
complement factor I |
susceptibility |
ISO |
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 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:612923 |
ClinVar CTD OMIM |
PMID:15173250 PMID:16621965 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:25741868 PMID:25758434 PMID:27268256 PMID:28282489 PMID:28492532, PMID:15173250 |
RGD:6906889 |
NCBI chr 2:235,264,149...235,305,779
Ensembl chr 2:235,264,219...235,305,781
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Dgke |
diacylglycerol kinase epsilon |
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ISO |
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: atypical hemolytic-uremic syndrome |
ClinVar CTD |
PMID:23542698 PMID:24511134 PMID:24747643 PMID:25741868 PMID:29590070 |
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NCBI chr10:76,375,981...76,408,224
Ensembl chr10:76,386,471...76,407,989
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RGD1564614 |
similar to complement factor H-related protein |
susceptibility |
ISO |
ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to |
ClinVar CTD OMIM |
PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 |
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NCBI chr13:56,889,669...56,958,549
Ensembl chr13:56,889,669...56,958,561
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G |
Thbd |
thrombomodulin |
susceptibility no_association severity |
ISO |
ClinVar Annotator: match by OMIM:612926 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 |
PMID:7811989 PMID:10460600 PMID:11986219 PMID:12139752 PMID:17677000 PMID:19625716 PMID:23332921 PMID:24933457 PMID:25135378 PMID:25741868 PMID:28492532, PMID:19625716, PMID:19625716, PMID:20595690 |
RGD:11038691, RGD:11038691, RGD:11038684 |
NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
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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 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
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G |
Alb |
albumin |
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ISO |
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RGD |
PMID:6683982 |
RGD:11036083 |
NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
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G |
Cd40 |
CD40 molecule |
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ISO |
protein:increased expression:peripheral blood, B lymphocyte (human) |
RGD |
PMID:17654056 |
RGD:11344977 |
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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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:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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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 chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
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G |
Dnmt3a |
DNA methyltransferase 3 alpha |
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ISO |
mRNA:decreased expression:mononuclear cell |
RGD |
PMID:18683034 |
RGD:9588662 |
NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
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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 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
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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 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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G |
Fcgr2a |
Fc fragment of IgG receptor IIa |
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 chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036 Ensembl chr13:91,168,973...91,198,036
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G |
Fcgr2b |
Fc fragment of IgG receptor IIb |
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 chr13:89,329,298...89,343,916
Ensembl chr13:89,327,794...89,433,815
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G |
Fcgr3a |
Fc fragment of IgG receptor IIIa |
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 chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
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G |
Gp1ba |
glycoprotein Ib platelet subunit alpha |
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ISO |
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RGD |
PMID:16861348 |
RGD:10450841 |
NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
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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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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G |
Il18 |
interleukin 18 |
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ISO |
protein:increased expression:plasma: |
RGD |
PMID:24801815 |
RGD:11073600 |
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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G |
Il1a |
interleukin 1 alpha |
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ISO |
DNA:SNP:promoter:-899C>T (human) |
RGD |
PMID:21591983 |
RGD:11051966 |
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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G |
Il1rn |
interleukin 1 receptor antagonist |
susceptibility |
ISO |
DNA:repeats:: |
RGD |
PMID:20626741 |
RGD:11528541 |
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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G |
Il2 |
interleukin 2 |
susceptibility |
ISO |
DNA:polymorphism::-330T>G(human) |
RGD |
PMID:20626741 |
RGD:11528541 |
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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G |
Il4 |
interleukin 4 |
disease_progression |
ISO |
DNA:repeat:intron |
RGD |
PMID:25051072 |
RGD:11041894 |
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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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 chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
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G |
Mir130a |
microRNA 130a |
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ISO |
RNA:decreased expression:PBMC |
RGD |
PMID:24801815 |
RGD:11073600 |
NCBI chr 3:72,141,037...72,141,124
Ensembl chr 3:72,141,037...72,141,124
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G |
Mir3581 |
microRNA 3581 |
treatment |
ISO |
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RGD |
PMID:23360331 |
RGD:10755694 |
NCBI chr 6:133,893,418...133,893,497
Ensembl chr 6:133,893,418...133,893,497
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G |
Mir409 |
microRNA 409 |
treatment |
ISO |
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RGD |
PMID:23360331 |
RGD:10755694 |
NCBI chr 6:133,893,419...133,893,495
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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 chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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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 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
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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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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G |
Socs1 |
suppressor of cytokine signaling 1 |
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ISO |
ClinVar Annotator: match by term: Autoimmune thrombocytopenia |
ClinVar |
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NCBI chr10:4,956,795...4,958,472
Ensembl chr10:4,957,326...4,958,461
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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 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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G |
Tubb1 |
tubulin, beta 1 class VI |
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ISO |
ClinVar Annotator: match by term: MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED |
OMIM ClinVar |
PMID:18849486 PMID:25741868 PMID:31064749 |
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NCBI chr 3:172,550,252...172,558,089
Ensembl chr 3:172,550,258...172,558,114
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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 17 |
OMIM ClinVar |
PMID:9390828 PMID:11023810 PMID:11590545 PMID:11752022 PMID:12533692 PMID:16969870 PMID:17146397 PMID:18059020 PMID:18676005 PMID:19557653 PMID:20588287 PMID:22123909 PMID:22477015 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:26226608 PMID:26346198 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28059092 PMID:28492532 PMID:29090586 PMID:30720677 PMID:31064749 |
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NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
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G |
Proc |
protein C, inactivator of coagulation factors Va and VIIIa |
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ISO |
ClinVar Annotator: match by term: Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant |
ClinVar OMIM |
PMID:1301954 PMID:1301959 PMID:1347608 PMID:1464619 PMID:1469096 PMID:1498334 PMID:1511988 PMID:1511989 PMID:1593215 PMID:1771629 PMID:1868249 PMID:2437584 PMID:2602169 PMID:2991887 PMID:3185623 PMID:6589623 PMID:7482420 PMID:7605880 PMID:7670104 PMID:7740502 PMID:7792728 PMID:7795150 PMID:7831652 PMID:7881411 PMID:7894031 PMID:8093743 PMID:8128429 PMID:8165644 PMID:8218861 PMID:8292730 PMID:8400292 PMID:8446940 PMID:8462980 PMID:8477066 PMID:8499565 PMID:8499568 PMID:8505327 PMID:8639775 PMID:8807339 PMID:9553065 PMID:9683579 PMID:9798967 PMID:9840027 PMID:10358041 PMID:10669160 PMID:10805275 PMID:10942114 PMID:11380450 PMID:14642106 PMID:16867987 PMID:17152060 PMID:17635713 PMID:18573519 PMID:18954896 PMID:19535131 PMID:20815936 PMID:21621249 PMID:21744130 PMID:21901152 PMID:22425321 PMID:22545135 PMID:22627591 PMID:22817391 PMID:22944127 PMID:23332921 PMID:23389250 PMID:24028705 PMID:24162787 PMID:24782131 PMID:25039884 PMID:25393254 PMID:25525159 PMID:25637381 PMID:25648792 PMID:25712501 PMID:25741868 PMID:25748729 PMID:27081530 PMID:27172833 PMID:27517348 PMID:27838551 PMID:28111891 PMID:28468828 PMID:28492532 PMID:28607330 PMID:29356699 PMID:31064749 |
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NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
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G |
Arl13b |
ADP-ribosylation factor like GTPase 13B |
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ISO |
ClinVar Annotator: match by term: Reduced protein S activity |
ClinVar |
PMID:32581362 |
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NCBI chr 7:1,122,567...1,188,209
Ensembl chr 7:1,122,567...1,188,209
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G |
Nsun3 |
NOP2/Sun RNA methyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Reduced protein S activity |
ClinVar |
PMID:32581362 |
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NCBI chr11:38,535,971...38,590,274
Ensembl chr11:38,536,165...38,590,107
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G |
Pros1 |
protein S |
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ISO |
ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal dominant ClinVar Annotator: match by term: Reduced protein S activity |
OMIM ClinVar |
PMID:1547381 PMID:2143091 PMID:2526663 PMID:7545463 PMID:7579448 PMID:7579449 PMID:7803790 PMID:8113388 PMID:8298131 PMID:8765219 PMID:8943854 PMID:9657428 PMID:10447256 PMID:10669162 PMID:10706858 PMID:10811787 PMID:10887114 PMID:11127877 PMID:11858485 PMID:12351389 PMID:12960605 PMID:15147381 PMID:15175796 PMID:15238143 PMID:15712227 PMID:15978566 PMID:16100035 PMID:16461766 PMID:16961608 PMID:18322254 PMID:18435454 PMID:18841302 PMID:18954896 PMID:19826897 PMID:20811787 PMID:20880255 PMID:21172841 PMID:21285903 PMID:21486865 PMID:21764424 PMID:21764702 PMID:21811774 PMID:22261441 PMID:22273984 PMID:22951146 PMID:23813890 PMID:24014240 PMID:24033266 PMID:24055113 PMID:24119292 PMID:24233386 PMID:24365770 PMID:25272994 PMID:25637381 PMID:25741868 PMID:26251307 PMID:26985940 PMID:27652279 PMID:27660039 PMID:27667277 PMID:27748013 PMID:27838551 PMID:28374852 PMID:28492532 PMID:28607330 PMID:29321366 PMID:29748776 PMID:29883906 PMID:30349894 PMID:30669159 PMID:31064749 PMID:32581362 |
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NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
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G |
Stx19 |
syntaxin 19 |
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ISO |
ClinVar Annotator: match by term: Reduced protein S activity |
ClinVar |
PMID:32581362 |
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NCBI chr 7:1,145,002...1,149,978
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G |
F8 |
coagulation factor VIII |
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ISO |
ClinVar Annotator: match by term: Mild hemophilia A |
ClinVar |
PMID:29357978 |
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NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
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G |
Proc |
protein C, inactivator of coagulation factors Va and VIIIa |
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ISO |
ClinVar Annotator: match by term: Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive ClinVar Annotator: match by OMIM:612304 |
OMIM ClinVar |
PMID:1347608 PMID:1347706 PMID:1348046 PMID:1511988 PMID:1593215 PMID:1678832 PMID:1868249 PMID:3185623 PMID:7482420 PMID:8128429 PMID:8165644 PMID:10805275 PMID:10942114 PMID:17152060 PMID:18573519 PMID:18954896 PMID:19535131 PMID:20815936 PMID:21621249 PMID:21901152 PMID:24162787 PMID:25637381 PMID:25741868 PMID:28111891 PMID:28492532 PMID:28607330 PMID:31064749 |
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NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
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G |
Arl13b |
ADP-ribosylation factor like GTPase 13B |
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ISO |
ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive |
ClinVar |
PMID:28492532 |
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NCBI chr 7:1,122,567...1,188,209
Ensembl chr 7:1,122,567...1,188,209
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G |
Pros1 |
protein S |
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ISO |
ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive ClinVar Annotator: match by OMIM:614514 |
OMIM ClinVar |
PMID:1547381 PMID:1671337 PMID:2143091 PMID:2231208 PMID:2526663 PMID:7579448 PMID:7579449 PMID:7803790 PMID:8298131 PMID:8765219 PMID:8841302 PMID:8943854 PMID:9241758 PMID:10063989 PMID:10456456 PMID:10613646 PMID:10669162 PMID:10706858 PMID:10790208 PMID:10811787 PMID:10887114 PMID:11127877 PMID:11776305 PMID:11858485 PMID:12351389 PMID:12960605 PMID:15147381 PMID:15175796 PMID:15238143 PMID:15712227 PMID:15978566 PMID:16100035 PMID:16461766 PMID:16961607 PMID:16961608 PMID:17157360 PMID:18322254 PMID:18435454 PMID:18841302 PMID:18954896 PMID:19826897 PMID:20484936 PMID:20811787 PMID:20880255 PMID:21172841 PMID:21285903 PMID:21486865 PMID:21764424 PMID:21764702 PMID:21811774 PMID:22261441 PMID:22273984 PMID:22951146 PMID:23813890 PMID:24014240 PMID:24033266 PMID:24055113 PMID:24119292 PMID:24233386 PMID:24365770 PMID:25272994 PMID:25637381 PMID:25741868 PMID:26046366 PMID:26251307 PMID:26466767 PMID:26985940 PMID:27652279 PMID:27660039 PMID:27667277 PMID:27748013 PMID:27838551 PMID:28374852 PMID:28492532 PMID:28607330 PMID:29321366 PMID:29748776 PMID:29883906 PMID:30349894 PMID:30669159 PMID:31064749 |
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NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
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G |
Stx19 |
syntaxin 19 |
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ISO |
ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive |
ClinVar |
PMID:28492532 |
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NCBI chr 7:1,145,002...1,149,978
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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 |
PMID:25741868, PMID:11776304, PMID:19404517, PMID:22044935, PMID:10089893, PMID:10996832, PMID:21173099, PMID:23995613 |
RGD:10450843, RGD:10450834, RGD:10450833, RGD:10450819, RGD:10450809, RGD:10450798, RGD:10450796 |
NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
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G |
Gp1bb |
glycoprotein Ib platelet subunit beta |
severity |
ISO |
ClinVar Annotator: match by term: Bernard-Soulier syndrome 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 |
PMID:10887115 PMID:25741868 PMID:31064749 PMID:32581362, PMID:28131619, PMID:12945881, PMID:17095718, PMID:9116284 |
RGD:13464128, RGD:11040530, RGD:11040529, RGD:11040528 |
NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
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G |
Gp9 |
glycoprotein IX (platelet) |
severity |
ISO |
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) ClinVar Annotator: match by OMIM:231200 DNA:mutation:cds:p.C73Y(human) |
OMIM ClinVar |
PMID:8049428 PMID:8481514 PMID:11167791 PMID:14510954 PMID:21173099 PMID:21699652 PMID:25370924 PMID:25741868 PMID:28131619 PMID:28492532 PMID:28765788 PMID:31064749 PMID:32581362, PMID:28131619, PMID:8972003 |
RGD:13464128, RGD:11040531 |
NCBI chr 4:119,680,671...119,682,006
Ensembl chr 4:119,680,112...119,682,547
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G |
Vwf |
von Willebrand factor |
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ISO |
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RGD |
PMID:14717981 |
RGD:1580643 |
NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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G |
Gp1ba |
glycoprotein Ib platelet subunit alpha |
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ISO |
ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A2, autosomal dominant ClinVar Annotator: match by OMIM:153670 |
OMIM ClinVar |
PMID:1730088 PMID:7690774 PMID:11222377 PMID:25741868 PMID:31064749 |
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NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
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G |
Gp1ba |
glycoprotein Ib platelet subunit alpha |
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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 chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
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G |
Gp1ba |
glycoprotein Ib platelet subunit alpha |
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ISO |
ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A1 |
ClinVar |
PMID:1901273 PMID:2308962 PMID:7690774 PMID:9233564 PMID:11222377 PMID:25741868 |
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NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
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G |
Gp1bb |
glycoprotein Ib platelet subunit beta |
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ISO |
ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B |
ClinVar |
PMID:7633430 PMID:8703016 PMID:9116284 PMID:10887115 PMID:18414213 PMID:25741868 PMID:31064749 PMID:32581362 |
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NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
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G |
Gp9 |
glycoprotein IX (platelet) |
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ISO |
ClinVar Annotator: match by term: Macrothrombocytopenia, familial Bernard-Soulier type |
ClinVar |
PMID:8049428 PMID:8481514 PMID:14510954 PMID:25370924 PMID:25741868 PMID:28131619 PMID:28492532 PMID:28765788 PMID:31064749 |
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NCBI chr 4:119,680,671...119,682,006
Ensembl chr 4:119,680,112...119,682,547
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G |
Gp9 |
glycoprotein IX (platelet) |
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ISO |
DNA:missense mutations:cds:p.D21G, p.N45S (human) ClinVar Annotator: match by term: Bernard-Soulier syndrome type C |
ClinVar |
PMID:8049428 PMID:8481514 PMID:9163595 PMID:9886312 PMID:11167791 PMID:12100158 PMID:13442197 PMID:14510954 PMID:21173099 PMID:21699652 PMID:25370924 PMID:25741868 PMID:28131619 PMID:28395735 PMID:28492532 PMID:28765788 PMID:29636940 PMID:31064749 PMID:32581362, PMID:8481514 |
RGD:1599275 |
NCBI chr 4:119,680,671...119,682,006
Ensembl chr 4:119,680,112...119,682,547
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G |
Ankrd26 |
ankyrin repeat domain 26 |
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ISO |
ClinVar Annotator: match by term: Platelet disorder |
ClinVar |
PMID:23677566 PMID:25741868 PMID:31064749 |
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NCBI chr 4:150,548,656...150,616,928
Ensembl chr 4:150,547,467...150,616,895
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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 |
PMID:7533783 PMID:7686693 PMID:10946357 PMID:11019968 PMID:11718687 PMID:11950861 PMID:15282206 PMID:24033266 PMID:24917573 PMID:24960640 PMID:25798958, PMID:11950861 |
RGD:1600629 |
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
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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 1:222,254,183...222,272,775
Ensembl chr 1:222,254,184...222,272,285
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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 chr13:67,062,252...67,206,688
Ensembl chr13:66,988,937...67,206,693
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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:28960434 |
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NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
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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 chr12:2,180,101...2,191,863
Ensembl chr12:2,180,150...2,191,175
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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 |
PMID:7929844 PMID:19828703, PMID:7929844 |
RGD:1578439 |
NCBI chr 7:11,253,153...11,259,233
Ensembl chr 7:11,253,180...11,257,977
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G |
Chst14 |
carbohydrate sulfotransferase 14 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome 1 ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIB |
ClinVar |
PMID:9084938 PMID:10766984 PMID:11370633 PMID:12508273 PMID:16158441 PMID:20004762 PMID:20503305 PMID:20533528 PMID:20842734 PMID:21744491 PMID:25741868 PMID:26373698 PMID:26872206 PMID:26925854 PMID:28238810 |
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NCBI chr 3:110,734,105...110,736,162
Ensembl chr 3:110,734,105...110,736,162
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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 Annotator: match by term: Corneal fragility keratoglobus, blue sclerae AND joint hypermobility |
ClinVar |
PMID:28492532 |
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NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
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G |
Zfp469 |
zinc finger protein 469 |
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ISO |
ClinVar Annotator: match by OMIM:229200 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 PMID:25741868 |
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NCBI chr19:54,843,864...55,083,935
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G |
Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Brittle cornea syndrome 2 ClinVar Annotator: match by OMIM:614170 ClinVar Annotator: match by This custom term has been created by RGD curators. |
OMIM ClinVar |
PMID:8458232 PMID:21664999 PMID:22122778 PMID:25741868 PMID:26395458 PMID:28492532 |
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NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
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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 chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
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G |
Krit1 |
KRIT1, ankyrin repeat containing |
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ISO |
ClinVar Annotator: match by term: Cavernous hemangioma |
ClinVar |
PMID:10545614 PMID:23595507 PMID:24466005 PMID:25741868 PMID:28492532 |
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NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
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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 4:27,473,477...27,597,206
Ensembl chr 4:27,473,477...27,597,206
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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:25525273 PMID:25741868 PMID:28492532 |
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NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
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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 chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
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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 chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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G |
Krit1 |
KRIT1, ankyrin repeat containing |
susceptibility |
ISO ISS |
ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar Annotator: match by OMIM:116860 |
MouseDO ClinVar |
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11161805 PMID:11222804 PMID:11914398 PMID:11959162 PMID:12404106 PMID:12810002 PMID:12854741 PMID:15079030 PMID:17187287 PMID:17211633 PMID:18383588 PMID:19088123 PMID:19454328 PMID:20419355 PMID:20798775 PMID:21029238 PMID:23584803 PMID:23595507 PMID:24401931 PMID:24466005 PMID:24689081 PMID:24721395 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28645800 PMID:28745674 PMID:30161288, PMID:14755725, PMID:15079030 |
RGD:1358458, RGD:1598379 |
NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
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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:28492532 |
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NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
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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 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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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 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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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 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
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G |
Krit1 |
KRIT1, ankyrin repeat containing |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformations 1 |
ClinVar OMIM |
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11222804 PMID:11310633 PMID:11914398 PMID:11941540 PMID:12404106 PMID:12854741 PMID:17562932 PMID:19088123 PMID:19454328 PMID:24401931 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
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G |
Ccm2 |
CCM2 scaffold protein |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformations 2 |
OMIM ClinVar |
PMID:2468908 PMID:14624391 PMID:14740320 PMID:15122722 PMID:17160895 PMID:18060436 PMID:18300272 PMID:19088123 PMID:19088124 PMID:20419355 PMID:23595507 PMID:24466005 PMID:25525273 PMID:25741868 PMID:26467025 PMID:27153162 PMID:27561926 PMID:27792856 PMID:28492532 PMID:28655553 PMID:32860008 |
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NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
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G |
Nacad |
NAC alpha domain containing |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformations 2 |
ClinVar |
PMID:17160895 PMID:28492532 |
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NCBI chr14:86,860,607...86,868,605
Ensembl chr14:86,860,608...86,868,598
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G |
Pdcd10 |
programmed cell death 10 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformations 3 |
OMIM ClinVar |
PMID:15543491 PMID:18035376 PMID:18060436 PMID:20623299 PMID:23485406 PMID:23595507 PMID:23801932 PMID:25354366 PMID:25741868 PMID:26896283 PMID:28492532 PMID:30161288 |
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NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
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G |
Serpini1 |
serpin family I member 1 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformations 3 |
ClinVar |
PMID:18060436 PMID:20623299 PMID:28492532 |
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NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
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G |
Ggcx |
gamma-glutamyl carboxylase |
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ISO |
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RGD |
PMID:9845520 |
RGD:1598791 |
NCBI chr 4:100,277,345...100,293,097
Ensembl chr 4:100,277,391...100,293,250
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G |
Ggcx |
gamma-glutamyl carboxylase |
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ISO |
ClinVar Annotator: match by term: Vitamin K-dependent clotting factors, combined deficiency of, 1 ClinVar Annotator: match by term: Vitamin k-dependent clotting factors, combined deficiency of, 1 DNA:missense mutations:cds:P.D31N,W157R,T157K(human) DNA:mutations:splice site,exon: ClinVar Annotator: match by OMIM:277450 |
OMIM ClinVar |
PMID:2145029 PMID:9845520 PMID:10934213 PMID:11071668 PMID:15287948 PMID:16720838 PMID:17144668 PMID:20075945 PMID:28492532, PMID:16720838, PMID:15287948 |
RGD:11040511, RGD:11040510 |
NCBI chr 4:100,277,345...100,293,097
Ensembl chr 4:100,277,391...100,293,250
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G |
Mat2a |
methionine adenosyltransferase 2A |
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ISO |
ClinVar Annotator: match by term: Vitamin K-dependent clotting factors, combined deficiency of, 1 |
ClinVar |
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NCBI chr 4:100,297,478...100,303,047
Ensembl chr 4:100,296,075...100,303,080
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G |
Vkorc1 |
vitamin K epoxide reductase complex, subunit 1 |
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ISO |
ClinVar Annotator: match by term: Vitamin K-dependent clotting factors, combined deficiency of, 2 DNA:missense mutation: :p.R98W (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:607473 |
OMIM ClinVar CTD |
PMID:11154138 PMID:14765194 PMID:15358623 PMID:15883587 PMID:16270629 PMID:16270630 PMID:16611750 PMID:16676068 PMID:16879214 PMID:16890578 PMID:17049586 PMID:17110455 PMID:17189218 PMID:18252229 PMID:18466099 PMID:19344422 PMID:20128861 PMID:20653676 PMID:21127708 PMID:21326313 PMID:21635147 PMID:22349464 PMID:22676192 PMID:22871975 PMID:22992668 PMID:23039877 PMID:23208322 PMID:23571513 PMID:23990957 PMID:24019055 PMID:24838629 PMID:25084205 PMID:25126975 PMID:25519826 PMID:25594941 PMID:25741868 PMID:28492532, PMID:14765194 |
RGD:1303972 |
NCBI chr 1:199,338,785...199,341,306
Ensembl chr 1:199,337,138...199,341,302
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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 |
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NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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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:25944380 |
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NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
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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 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
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G |
Cfi |
complement factor I |
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ISO |
ClinVar Annotator: match by term: Afibrinogenemia |
ClinVar |
PMID:849647 PMID:8613545 PMID:12562389 PMID:17018561 PMID:25741868 PMID:25988862 |
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NCBI chr 2:235,264,149...235,305,779
Ensembl chr 2:235,264,219...235,305,781
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G |
Fga |
fibrinogen alpha chain |
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ISO |
ClinVar Annotator: match by term: Afibrinogenemia, congenital ClinVar Annotator: match by term: Hypofibrinogenemia ClinVar Annotator: match by OMIM:202400 CTD Direct Evidence: marker/mechanism DNA:deletion:cds: (human) |
ClinVar CTD OMIM |
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:25741868 PMID:27164460 PMID:28492532 PMID:31064749, PMID:15795544, PMID:10602365 |
RGD:5688762, RGD:11040559 |
NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
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G |
Fgb |
fibrinogen beta chain |
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ISO |
ClinVar Annotator: match by term: Afibrinogenemia, congenital ClinVar Annotator: match by term: Hypofibrinogenemia, congenital ClinVar Annotator: match by OMIM:202400 |
ClinVar OMIM |
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:24033266 PMID:25592583 PMID:25741868 PMID:27164460 PMID:28492532 PMID:31064749, PMID:12393540 |
RGD:737709 |
NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
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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, congenital ClinVar Annotator: match by term: Hypofibrinogenemia ClinVar Annotator: match by OMIM:202400 DNA:nonsense mutation:exon:p.R134X (human) |
ClinVar OMIM |
PMID:1471077 PMID:1733971 PMID:2512677 PMID:2617471 PMID:2971042 PMID:2976995 PMID:3337908 PMID:3563970 PMID:4002201 PMID:6654188 PMID:6886002 PMID:7635941 PMID:10688828 PMID:11001902 PMID:11001903 PMID:11019970 PMID:11435303 PMID:16144795 PMID:17854317 PMID:23560673 PMID:24033266 PMID:24556703 PMID:25320241 PMID:25741868 PMID:28492532 PMID:31064749, PMID:11001903, PMID:15284111 |
RGD:737710, RGD:11352676 |
NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514
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G |
Mpl |
MPL proto-oncogene, thrombopoietin receptor |
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ISO |
ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia ClinVar Annotator: match by OMIM:604498 |
OMIM ClinVar |
PMID:8073287 PMID:10077649 PMID:10971406 PMID:11071383 PMID:11133753 PMID:11392330 PMID:11972523 PMID:15269348 PMID:15531462 PMID:16219544 PMID:16470591 PMID:16834459 PMID:16868251 PMID:17054430 PMID:17666371 PMID:18240171 PMID:18422784 PMID:19036112 PMID:19302922 PMID:20188141 PMID:21162090 PMID:21225925 PMID:21228398 PMID:21489838 PMID:21659346 PMID:22180433 PMID:22389068 PMID:23103231 PMID:23625800 PMID:24033266 PMID:24119002 PMID:24438083 PMID:24728327 PMID:25538044 PMID:25741868 PMID:26854587 PMID:27418648 PMID:27449473 PMID:27854218 PMID:28492532 PMID:28697167 PMID:28859041 PMID:29384262 PMID:31064749 PMID:32581362 PMID:32703794 |
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NCBI chr 5:137,268,412...137,282,032
Ensembl chr 5:137,269,480...137,281,298
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G |
Stt3b |
STT3 oligosaccharyltransferase complex catalytic subunit B |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x ClinVar Annotator: match by OMIM:615597 |
OMIM ClinVar |
PMID:23842455 PMID:25741868 PMID:28492532 |
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NCBI chr 8:123,303,910...123,370,729
Ensembl chr 8:123,293,057...123,371,257
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G |
Fga |
fibrinogen alpha chain |
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ISO |
ClinVar Annotator: match by term: FIBRINOGEN PETOSKEY ClinVar Annotator: match by term: FIBRINOGEN AARHUS 1 ClinVar Annotator: match by term: Dysfibrinogenemia |
OMIM ClinVar |
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:25741868 PMID:31064749 |
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NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
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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 |
PMID:25741868, PMID:24711018, PMID:12511408 |
RGD:10450765, RGD:10450766 |
NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
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G |
Fgg |
fibrinogen gamma chain |
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ISO |
DNA:deletion:intron:IVS9+1delG (human) DNA:missense mutation:exon:p.N308T (c.1001A>C) (human) |
OMIM |
PMID:25551304, PMID:24482809 |
RGD:11352672, RGD:11352691 |
NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514
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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 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
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G |
Fgb |
fibrinogen beta chain |
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ISO |
ClinVar Annotator: match by term: FIBRINOGEN NIJMEGEN ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 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 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
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G |
Fgg |
fibrinogen gamma chain |
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ISO |
ClinVar Annotator: match by term: Hypodysfibrinogenemia ClinVar Annotator: match by term: FIBRINOGEN HAIFA 1 ClinVar Annotator: match by term: FIBRINOGEN TOKYO 2 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 DNA:missense mutation:exon:p.R375W (human) |
ClinVar |
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:23560673, PMID:26039544, PMID:16607083, PMID:24914742, PMID:23492915, PMID:16959688, PMID:12198657 |
RGD:11352694, RGD:11352682, RGD:11352681, RGD:11352680, RGD:11352678, RGD:11352675, RGD:11352674 |
NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514
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G |
F2 |
coagulation factor II |
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ISO |
ClinVar Annotator: match by term: Prothrombin deficiency, congenital ClinVar Annotator: match by term: Prolonged prothrombin time ClinVar Annotator: match by term: Hereditary factor II deficiency disease DNA:deletion, missense mutations:cds: ClinVar Annotator: match by null ClinVar Annotator: match by OMIM:613679 |
OMIM ClinVar |
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:11154146 |
RGD:11565075 |
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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Proc |
protein C, inactivator of coagulation factors Va and VIIIa |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25748729 |
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NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
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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 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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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 chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
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G |
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 chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
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G |
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 1:85,236,243...85,237,775
Ensembl chr 1:85,236,243...85,237,775
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G |
Tcn2 |
transcobalamin 2 |
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ISO |
associated with Glomerulonephritis;protein:increased expression:serum: |
RGD |
PMID:3574578 |
RGD:11060121 |
NCBI chr14:84,173,992...84,189,299
Ensembl chr14:84,174,138...84,189,266
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G |
Tnf |
tumor necrosis factor |
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ISO |
protein:increased expression:serum |
RGD |
PMID:19860001 |
RGD:10450529 |
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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G |
Tslp |
thymic stromal lymphopoietin |
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ISS |
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MouseDO |
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NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
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Aicda |
activation-induced cytidine deaminase |
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ISO |
associated with Chronic Hepatitis C; mRNA:increased expression:B cell |
RGD |
PMID:26219420 |
RGD:30296664 |
NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
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G |
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 chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
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G |
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 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
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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 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
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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 chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
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G |
F2 |
coagulation factor II |
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IDA ISO |
CTD Direct Evidence: marker/mechanism associated with Wounds and Injuries |
CTD |
PMID:1894189, PMID:22229668, PMID:23737601, PMID:1336986, PMID:19682336 |
RGD:6893489, RGD:10449432, RGD:10449429, RGD:10449422 |
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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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 |
PMID:7740478 PMID:9134660 PMID:20642682, PMID:8914465, PMID:9426395, PMID:3802033 |
RGD:11060253, RGD:11060265, RGD:11341675 |
NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
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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 chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
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G |
Fga |
fibrinogen alpha chain |
treatment |
IEP IDA |
protein:decreased expression:plasma (rat) |
RGD |
PMID:23538169, PMID:22800895 |
RGD:10755508, RGD:10755509 |
NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
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Il10 |
interleukin 10 |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:16613997 |
RGD:11049462 |
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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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 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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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 3:123,106,694...123,107,534
Ensembl chr 3:123,106,694...123,107,534
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G |
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 chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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G |
Proc |
protein C, inactivator of coagulation factors Va and VIIIa |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18376272, PMID:9788960, PMID:10936861 |
RGD:11099993, RGD:11100014 |
NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
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G |
Serpinc1 |
serpin family C member 1 |
treatment |
ISO |
associated with Endotoxemia CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:6233579 PMID:8810955 PMID:9637888, PMID:2679067 |
RGD:11035251 |
NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
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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 chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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G |
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 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
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Thbd |
thrombomodulin |
treatment |
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9134660, PMID:21569368, PMID:23952647 |
RGD:5685034, RGD:11038686 |
NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
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G |
Tnf |
tumor necrosis factor |
severity |
ISO |
associated with Hemorrhagic Fever, Crimean |
RGD |
PMID:16518755 |
RGD:10450536 |
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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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 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
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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 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
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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 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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G |
Gstt1 |
glutathione S-transferase theta 1 |
treatment |
ISO |
associated with diffuse large B-cell lymphoma; DNA:deletion:cds: |
RGD |
PMID:20303013 |
RGD:10450835 |
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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G |
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 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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Il1b |
interleukin 1 beta |
treatment |
ISO |
associated with Glioblastoma; |
RGD |
PMID:1331350 |
RGD:10450883 |
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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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 chr10:94,850,971...94,913,202
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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 chr10:36,098,051...36,304,416
Ensembl chr10:36,098,051...36,304,409
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G |
B4galt7 |
beta-1,4-galactosyltransferase 7 |
susceptibility |
ISO |
DNA:transition:exon;808C>T |
RGD |
PMID:10473568 |
RGD:1599433 |
NCBI chr17:9,549,605...9,558,672
Ensembl chr17:9,550,028...9,558,634
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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 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
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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 |
PMID:24443344 |
RGD:11571617 |
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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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 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
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G |
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 |
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 |
RGD:1300381, RGD:11041602, RGD:11041599, RGD:7257554 |
NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
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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 |
PMID:12145749, PMID:11278977, PMID:10777716, PMID:8752669 |
RGD:1581210, RGD:1581211, RGD:1581212, RGD:734808 |
NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
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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 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
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G |
Dcn |
decorin |
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ISS |
OMIM:225400 |
MouseDO |
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NCBI chr 7:38,742,250...38,782,282
Ensembl chr 7:38,742,051...38,782,323
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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:156,460,785...156,487,245
Ensembl chr X:156,463,953...156,487,245
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G |
Lox |
lysyl oxidase |
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ISO |
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RGD |
PMID:8638917 |
RGD:1581895 |
NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
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G |
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 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
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G |
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 |
PMID:18985159, PMID:18985159, PMID:18985159 |
RGD:11553861, RGD:11553861 |
NCBI chr 3:79,884,524...79,892,664
Ensembl chr 3:79,884,524...79,892,429
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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 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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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: Ehlers-Danlos syndrome, type 7A ClinVar Annotator: match by term: Arthrochalasis multiplex congenita ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type |
ClinVar OMIM |
PMID:2037280 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:12590186 PMID:15024692 PMID:15024745 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16786509 PMID:17078022 PMID:17309652 PMID:18412368 PMID:18553566 PMID:18704262 PMID:19344236 PMID:19358256 PMID:21249479 PMID:21567126 PMID:21667357 PMID:22589248 PMID:22753364 PMID:24390061 PMID:25086671 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26467025 PMID:27132807 PMID:27509835 PMID:27510842 PMID:27748872 PMID:28378289 PMID:28492532 PMID:29543232, PMID:9295084 |
RGD:734803 |
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by OMIM:130060 |
ClinVar |
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NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
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G |
Col5a1 |
collagen type V alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A |
ClinVar |
PMID:10471441 PMID:10602121 PMID:10946364 PMID:11992482 PMID:12145749 PMID:15580559 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:28492532 PMID:29924831 PMID:30858776 |
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NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
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G |
Col5a2 |
collagen type V alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
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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, ARTHROCHALASIA TYPE, 2 |
ClinVar |
PMID:9443882 PMID:18311573 PMID:21667357 PMID:22206639 PMID:25944380 PMID:26627451 PMID:28492532 PMID:32581362 |
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NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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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, TYPE VIIB, AUTOSOMAL DOMINANT ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 |
ClinVar OMIM |
PMID:1556139 PMID:1577745 PMID:1712342 PMID:1978725 PMID:1990839 PMID:2454224 PMID:2777808 PMID:2985635 PMID:2993307 PMID:3372533 PMID:3621666 PMID:3680255 PMID:3733683 PMID:4742738 PMID:6092353 PMID:6773953 PMID:7695699 PMID:7860070 PMID:7864655 PMID:8081389 PMID:8094076 PMID:8218237 PMID:8456808 PMID:9016532 PMID:9272740 PMID:9399846 PMID:9594376 PMID:9923651 PMID:10976985 PMID:11288717 PMID:11317364 PMID:15077201 PMID:15172002 PMID:16705691 PMID:16816023 PMID:17078022 PMID:18028452 PMID:18272325 PMID:18996919 PMID:19344236 PMID:21520333 PMID:21884818 PMID:22589248 PMID:24033266 PMID:25326637 PMID:25450603 PMID:25633413 PMID:25741868 PMID:25835785 PMID:25944380 PMID:26432670 PMID:26467025 PMID:26604951 PMID:27056980 PMID:27510842 PMID:27519266 PMID:28492532 PMID:31319225 |
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NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
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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 cardiac valvular type |
ClinVar |
PMID:2037280 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:12590186 PMID:15024692 PMID:15024745 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16786509 PMID:17078022 PMID:17309652 PMID:18412368 PMID:18553566 PMID:18704262 PMID:19344236 PMID:19358256 PMID:21249479 PMID:21567126 PMID:21667357 PMID:22589248 PMID:22753364 PMID:24390061 PMID:25086671 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26467025 PMID:27132807 PMID:27509835 PMID:27510842 PMID:27748872 PMID:28378289 PMID:28492532 PMID:29543232 |
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NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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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 cardiac valvular type ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:225320 |
OMIM ClinVar CTD |
PMID:3049731 PMID:3383844 PMID:7695699 PMID:7860070 PMID:8094076 PMID:8218237 PMID:9016532 PMID:9272740 PMID:9295084 PMID:9594376 PMID:15077201 PMID:16705691 PMID:16816023 PMID:17078022 PMID:19344236 PMID:21520333 PMID:22589248 PMID:25326637 PMID:25450603 PMID:25741868 PMID:25944380 PMID:26604951 PMID:27519266 PMID:28492532 |
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NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
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G |
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 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428
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G |
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 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
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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 3:5,624,473...5,654,890
Ensembl chr 3:5,624,506...5,654,910
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G |
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 chr14:86,101,253...86,111,323
Ensembl chr14:86,101,277...86,111,306
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G |
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 3:7,279,429...7,394,509
Ensembl chr 3:7,279,340...7,394,513
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G |
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 3:7,491,234...7,498,555
Ensembl chr 3:7,491,234...7,498,555
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G |
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 3:5,995,204...6,054,467
Ensembl chr 3:5,997,315...6,054,483
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G |
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 3:5,555,807...5,571,205
Ensembl chr 3:5,555,807...5,572,064
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G |
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 4:29,638,280...29,693,151
Ensembl chr 4:29,639,154...29,691,928
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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 3:7,134,021...7,141,522
Ensembl chr 3:7,134,021...7,141,522
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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 3:7,508,500...7,632,311
Ensembl chr 3:7,508,496...7,632,345
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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, 1 |
ClinVar |
PMID:10739762 PMID:17211858 PMID:23587214 PMID:25597651 PMID:25741868 PMID:28102596 PMID:28492532 |
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NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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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, type 1 ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 |
ClinVar |
PMID:1978725 PMID:1990009 PMID:2454224 PMID:2777808 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:8094076 PMID:8218237 PMID:8829649 PMID:9016532 PMID:9099837 PMID:9272740 PMID:9399846 PMID:9594376 PMID:9923651 PMID:10027910 PMID:11288717 PMID:11317364 PMID:11359465 PMID:15077201 PMID:15172002 PMID:15241796 PMID:16705691 PMID:16786509 PMID:16816023 PMID:16879195 PMID:17078022 PMID:18028452 PMID:18311573 PMID:18996919 PMID:19344236 PMID:19594296 PMID:21520333 PMID:21667357 PMID:22206639 PMID:22589248 PMID:22753364 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: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:29807018 PMID:30715774 PMID:31414283 |
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NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
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G |
Col5a1 |
collagen type V alpha 1 chain |
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ISO |
ClinVar Annotator: match by OMIM:130000 ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:7695699 PMID:8218237 PMID:8575750 PMID:8752669 PMID:8923000 PMID:8950675 PMID:9042913 PMID:9683580 PMID:10471441 PMID:10602121 PMID:10777716 PMID:10796876 PMID:10946364 PMID:11992482 PMID:12145749 PMID:15264295 PMID:15580559 PMID:19019335 PMID:19344236 PMID:19370768 PMID:20635400 PMID:20979576 PMID:22696272 PMID:23587214 PMID:24033266 PMID:24088041 PMID:24685354 PMID:24951259 PMID:25741868 PMID:26188975 PMID:26608033 PMID:26633545 PMID:26854089 PMID:27011056 PMID:28454995 PMID:28485813 PMID:28492532 PMID:28550590 PMID:28714197 PMID:28750028 PMID:29924831 PMID:30858776 PMID:31064749 PMID:31903434 PMID:32581362 PMID:32720758 |
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NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
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G |
Col5a2 |
collagen type V alpha 2 chain |
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ISO ISS |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type OMIM:130000 |
ClinVar MouseDO |
PMID:2855059 PMID:7695699 PMID:8218237 PMID:9425231 PMID:9783710 PMID:11940702 PMID:15580559 PMID:19344236 PMID:20301422 PMID:22696272 PMID:23587214 PMID:25741868 PMID:28132693 PMID:28492532 PMID:28550590 PMID:28991257 |
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NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
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G |
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 3:5,709,236...5,731,895
Ensembl chr 3:5,709,236...5,731,898
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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 3:7,422,871...7,488,299
Ensembl chr 3:7,422,820...7,488,617
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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 3:5,656,400...5,693,273
Ensembl chr 3:5,656,163...5,693,147
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G |
Fcnb |
ficolin 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 3:6,617,816...6,626,193
Ensembl chr 3:6,617,751...6,626,284
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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:156,460,785...156,487,245
Ensembl chr X:156,463,953...156,487,245
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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 3:7,076,582...7,079,652
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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 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
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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 |
PMID:28492532 |
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NCBI chr 3:3,255,645...3,266,276
Ensembl chr 3:3,255,638...3,266,260
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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 3:7,404,857...7,422,779
Ensembl chr 3:7,404,841...7,422,738
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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 3:7,144,354...7,164,678
Ensembl chr 3:7,144,250...7,164,654
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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 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
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G |
Lcn9 |
lipocalin 9 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:3,272,150...3,274,792
Ensembl chr 3:3,272,193...3,274,547
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G |
Lum |
lumican |
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ISS |
OMIM:130000 |
MouseDO |
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NCBI chr 7:38,820,058...38,826,862
Ensembl chr 7:38,819,771...38,826,862
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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:71,174,653...71,197,812
Ensembl chr X:71,174,699...71,197,812
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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 3:5,453,678...5,458,760
Ensembl chr 3:5,453,614...5,458,782
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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 3:7,884,793...8,059,003
Ensembl chr 3:7,884,822...8,059,003
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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 |
PMID:28492532 |
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NCBI chr 3:7,051,695...7,056,726
Ensembl chr 3:7,051,695...7,058,521
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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 |
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NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
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G |
Mymk |
myomaker, myoblast fusion factor |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:5,608,243...5,617,689
Ensembl chr 3:5,608,243...5,617,225
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G |
Ntng2 |
netrin G2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:7,742,511...7,800,834
Ensembl chr 3:7,742,531...7,796,385
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G |
Obp2a |
odorant binding protein 2A |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:2,908,684...2,913,362
Ensembl chr 3:2,910,083...2,913,362
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G |
Olfm1 |
olfactomedin 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 3:6,761,031...6,798,739
Ensembl chr 3:6,773,813...6,798,737
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G |
Paep |
progestagen associated endometrial protein |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:2,935,396...2,938,883
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G |
Pomt1 |
protein-O-mannosyltransferase 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 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
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G |
Ppp1r26 |
protein phosphatase 1, regulatory subunit 26 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:7,032,118...7,040,615
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G |
Ralgds |
ral guanine nucleotide dissociation stimulator |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:7,090,134...7,130,548
Ensembl chr 3:7,109,920...7,130,548
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G |
Rapgef1 |
Rap guanine nucleotide exchange factor 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 3:8,189,594...8,307,077
Ensembl chr 3:8,192,575...8,304,976
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G |
Rexo4 |
REX4 homolog, 3'-5' exonuclease |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:5,500,578...5,510,908
Ensembl chr 3:5,500,589...5,510,908
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G |
RGD1306233 |
similar to hypothetical protein MGC29761 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:7,047,603...7,051,953
Ensembl chr 3:7,047,603...7,051,953
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G |
Rpl7a |
ribosomal protein L7a |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:5,458,985...5,461,627
Ensembl chr 3:5,459,160...5,461,583 Ensembl chr 3:5,459,160...5,461,583
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G |
Rxra |
retinoid X receptor alpha |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:6,272,560...6,295,354
Ensembl chr 3:6,211,789...6,295,908
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G |
Sardh |
sarcosine dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:5,737,203...5,802,153
Ensembl chr 3:5,737,200...5,802,129
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G |
Setx |
senataxin |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
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G |
Sgce |
sarcoglycan, epsilon |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 4:29,726,140...29,769,902
Ensembl chr 4:29,726,146...29,778,039
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G |
Slc2a10 |
solute carrier family 2 member 10 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
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NCBI chr 3:162,182,156...162,194,610
Ensembl chr 3:162,181,974...162,194,804
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G |
Slc2a6 |
solute carrier family 2 member 6 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:5,567,729...5,575,144
Ensembl chr 3:5,568,321...5,575,136
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G |
Sohlh1 |
spermatogenesis and oogenesis specific basic helix-loop-helix 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 3:3,290,766...3,295,226
Ensembl chr 3:3,291,084...3,295,101
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G |
Spaca9 |
sperm acrosome associated 9 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:7,269,851...7,279,253
Ensembl chr 3:7,269,853...7,278,758
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Stkld1 |
serine/threonine kinase-like 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 3:5,481,524...5,500,568
Ensembl chr 3:5,481,522...5,500,583
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G |
Surf1 |
SURF1, cytochrome c oxidase assembly factor |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632
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Surf2 |
surfeit 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 3:5,464,593...5,468,426
Ensembl chr 3:5,464,424...5,468,244
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G |
Surf4 |
surfeit 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 3:5,468,284...5,481,447
Ensembl chr 3:5,461,770...5,483,239
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Surf6 |
surfeit 6 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:28492532 |
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NCBI chr 3:5,441,404...5,452,156
Ensembl chr 3:5,441,409...5,452,156
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Tgfbr1 |
transforming growth factor, beta receptor 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type |
ClinVar |
PMID:30675029 |
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NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
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Tsc1 |
TSC complex subunit 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 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
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Ttf1 |
transcription termination factor 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 3:7,635,630...7,660,153
Ensembl chr 3:7,635,933...7,660,673
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Uck1 |
uridine-cytidine kinase 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 3:11,271,874...11,277,757
Ensembl chr 3:11,271,885...11,277,757
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Vav2 |
vav guanine nucleotide exchange factor 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 3:5,811,504...5,976,311
Ensembl chr 3:5,811,504...5,976,244
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G |
Vegp2 |
von Ebners gland protein 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 3:4,217,260...4,221,330
Ensembl chr 3:4,217,260...4,221,330
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G |
Wdr5 |
WD repeat domain 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 3:6,061,892...6,080,724
Ensembl chr 3:6,061,940...6,080,680
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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, type 2 |
CTD ClinVar |
PMID:8752669 PMID:9042913 PMID:25741868 PMID:28492532 |
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NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
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G |
Col5a2 |
collagen type V alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 ClinVar Annotator: match by term: Ehlers-Danlos syndrome classic type 2 |
ClinVar OMIM |
PMID:2855059 PMID:11940702 PMID:25741868 PMID:28132693 PMID:28492532 PMID:28550590 |
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NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
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Tnxb |
tenascin XB |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency ClinVar Annotator: match by term: Ehlers-Danlos-like syndrome due to tenascin-X deficiency ClinVar Annotator: match by OMIM:606408 |
OMIM ClinVar |
PMID:1620134 PMID:9288108 PMID:11642233 PMID:11925569 PMID:12865992 PMID:15733269 PMID:20649799 PMID:23284009 PMID:23768946 PMID:24033266 PMID:24088041 PMID:25741868 PMID:26075496 PMID:26633545 PMID:28344932 |
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Aebp1 |
AE binding protein 1 |
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ISO |
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 |
ClinVar OMIM |
PMID:25741868 PMID:27023906 PMID:29606302 |
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NCBI chr14:86,101,253...86,111,323
Ensembl chr14:86,101,277...86,111,306
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Adamts2 |
ADAM metallopeptidase with thrombospondin type 1 motif, 2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type vii, autosomal recessive ClinVar Annotator: match by OMIM:225410 DNA:deletions: : |
OMIM ClinVar |
PMID:1642226 PMID:7735500 PMID:8215497 PMID:8986271 PMID:10417273 PMID:15373769 PMID:15389701 PMID:18973246 PMID:23495203 PMID:25741868 PMID:26765342 PMID:28492532, PMID:15373769 |
RGD:1598738 |
NCBI chr10:36,098,051...36,304,416
Ensembl chr10:36,098,051...36,304,409
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G |
Col3a1 |
collagen type III alpha 1 chain |
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ISO |
DNA:missense mutation: :p.G637S (2512G>A) (human) ClinVar Annotator: match by term: Ehlers-Danlos Syndrome, Hypermobility Type |
ClinVar |
PMID:25741868 PMID:25758994 PMID:26854089 PMID:28087566 PMID:28492532 PMID:29590070 PMID:30087447 PMID:31531849, PMID:7833919 |
RGD:11041770 |
NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
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G |
Notch1 |
notch receptor 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 |
ClinVar |
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NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
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G |
Tnxb |
tenascin XB |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 |
ClinVar |
PMID:25326637 |
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G |
Mfn2 |
mitofusin 2 |
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ISO |
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE |
ClinVar |
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NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
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G |
Plod1 |
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:225400 |
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:9617436 PMID:9893157 PMID:10329027 PMID:10874315 PMID:11001813 PMID:14565595 PMID:15666309 PMID:15979919 PMID:16758144 PMID:19320026 PMID:21699693 PMID:22001912 PMID:25277362 PMID:25326635 PMID:25637337 PMID:25741868 PMID:28384719 PMID:28492532 |
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NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
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G |
Fkbp14 |
FKBP prolyl isomerase 14 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar Annotator: match by OMIM:614557 |
OMIM ClinVar |
PMID:22265013 PMID:24677762 PMID:25741868 PMID:27149304 PMID:28492532 PMID:28617417 PMID:31132235 |
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NCBI chr 4:84,753,628...84,768,314
Ensembl chr 4:84,753,633...84,768,249
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G |
Chst14 |
carbohydrate sulfotransferase 14 |
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ISO |
ClinVar Annotator: match by term: Adducted Thumb-Clubfoot Syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:601776 |
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:22987394 PMID:25741868 PMID:26373698 PMID:26872206 PMID:26925854 PMID:28238810 PMID:28492532 |
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NCBI chr 3:110,734,105...110,736,162
Ensembl chr 3:110,734,105...110,736,162
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G |
Dse |
dermatan sulfate epimerase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 ClinVar Annotator: match by OMIM:615539 |
OMIM ClinVar |
PMID:23704329 PMID:25703627 PMID:28492532 |
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NCBI chr20:27,703,738...27,784,982
Ensembl chr20:27,703,732...27,782,586
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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 5:173,423,475...173,425,611
Ensembl chr 5:173,423,475...173,425,611
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G |
B4galt7 |
beta-1,4-galactosyltransferase 7 |
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ISO |
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OMIM |
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NCBI chr17:9,549,605...9,558,672
Ensembl chr17:9,550,028...9,558,634
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G |
Acap3 |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 |
ClinVar |
PMID:19492091 PMID:28492532 |
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NCBI chr 5:173,340,060...173,354,756
Ensembl chr 5:173,340,060...173,354,755
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G |
Agrn |
agrin |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 |
ClinVar |
PMID:19492091 PMID:28492532 |
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NCBI chr 5:173,589,910...173,622,813
Ensembl chr 5:173,589,819...173,622,645
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G |
B3galt6 |
Beta-1,3-galactosyltransferase 6 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 |
ClinVar OMIM |
PMID:19492091 PMID:23664117 PMID:25149931 PMID:25741868 PMID:27023906 PMID:28492532 PMID:29443383 PMID:29620724 PMID:29931299 |
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NCBI chr 5:173,423,475...173,425,611
Ensembl chr 5:173,423,475...173,425,611
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G |
B4galt7 |
beta-1,4-galactosyltransferase 7 |
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ISO |
ClinVar Annotator: match by OMIM:130070 ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES |
ClinVar |
PMID:1221956 PMID:1640425 PMID:3631078 PMID:10473568 PMID:10506123 PMID:15211654 PMID:18158310 PMID:23956117 PMID:24755949 PMID:25533962 PMID:25741868 PMID:26940150 PMID:28492532 PMID:28882145 |
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NCBI chr17:9,549,605...9,558,672
Ensembl chr17:9,550,028...9,558,634
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G |
C1qtnf12 |
C1q and TNF related 12 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 |
ClinVar |
PMID:19492091 PMID:28492532 |
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NCBI chr 5:173,390,901...173,395,276
Ensembl chr 5:173,390,901...173,395,276
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G |
Ints11 |
integrator complex subunit 11 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 |
ClinVar |
PMID:19492091 PMID:28492532 |
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NCBI chr 5:173,318,435...173,336,930
Ensembl chr 5:173,318,479...173,336,930
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G |
Isg15 |
ISG15 ubiquitin-like modifier |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 |
ClinVar |
PMID:19492091 PMID:28492532 |
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NCBI chr 5:173,624,862...173,629,124
Ensembl chr 5:173,624,310...173,626,248
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G |
Mir200a |
microRNA 200a |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 |
ClinVar |
PMID:19492091 PMID:28492532 |
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NCBI chr 5:173,489,366...173,489,454
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G |
Mir200b |
microRNA 200b |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 |
ClinVar |
PMID:19492091 PMID:28492532 |
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NCBI chr 5:173,490,144...173,490,238
Ensembl chr 5:173,490,144...173,490,238
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G |
Mir429 |
microRNA 429 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 |
ClinVar |
PMID:19492091 PMID:28492532 |
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NCBI chr 5:173,488,331...173,488,415
Ensembl chr 5:173,488,331...173,488,415
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G |
Pusl1 |
pseudouridine synthase like 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 |
ClinVar |
PMID:19492091 PMID:28492532 |
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NCBI chr 5:173,326,755...173,339,934
Ensembl chr 5:173,336,034...173,340,026
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G |
RGD1311517 |
similar to RIKEN cDNA 9430015G10 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 |
ClinVar |
PMID:19492091 PMID:28492532 |
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NCBI chr 5:173,542,058...173,559,761
Ensembl chr 5:173,542,358...173,559,761
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G |
Rnf223 |
ring finger protein 223 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 |
ClinVar |
PMID:19492091 PMID:28492532 |
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NCBI chr 5:173,561,016...173,566,844
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G |
Sdf4 |
stromal cell derived factor 4 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 |
ClinVar |
PMID:19492091 PMID:28492532 |
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NCBI chr 5:173,425,922...173,444,478
Ensembl chr 5:173,425,907...173,444,620
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G |
Tnfrsf18 |
TNF receptor superfamily member 18 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 |
ClinVar |
PMID:19492091 PMID:28492532 |
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NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140
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G |
Tnfrsf4 |
TNF receptor superfamily member 4 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 |
ClinVar |
PMID:19492091 PMID:28492532 |
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NCBI chr 5:173,447,784...173,450,474
Ensembl chr 5:173,447,784...173,450,474
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G |
Ttll10 |
tubulin tyrosine ligase like 10 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 |
ClinVar |
PMID:19492091 PMID:28492532 |
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NCBI chr 5:173,471,020...173,517,783
Ensembl chr 5:173,471,010...173,484,986
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G |
Ube2j2 |
ubiquitin-conjugating enzyme E2, J2 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 |
ClinVar |
PMID:19492091 PMID:28492532 |
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NCBI chr 5:173,372,659...173,387,084
Ensembl chr 5:173,372,669...173,387,104
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G |
Slc39a13 |
solute carrier family 39 member 13 |
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ISO |
ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like DNA:deletion:cds:c.483_491del9 (human) ClinVar Annotator: match by null ClinVar Annotator: match by OMIM:612350 |
OMIM ClinVar |
PMID:18513683 PMID:18985159 PMID:24033266 PMID:25741868 PMID:28492532, PMID:18513683 |
RGD:11553863 |
NCBI chr 3:79,884,524...79,892,664
Ensembl chr 3:79,884,524...79,892,429
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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 4 ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV |
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:16751282 PMID:16863833 PMID:17053184 PMID:17122455 PMID:17224388 PMID:17251678 PMID:17576681 PMID:17728513 PMID:18043893 PMID:18272325 PMID:19011090 PMID:19248182 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:22610159 PMID:22647446 PMID:22713205 PMID:23148498 PMID:23234825 PMID:23293852 PMID:24033266 PMID:24036952 PMID:24055113 PMID:24399159 PMID:24922459 PMID:25149929 PMID:25205403 PMID:25326637 PMID:25355833 PMID:25503501 PMID:25637381 PMID:25644172 PMID:25741868 PMID:25758994 PMID:25776230 PMID:25834947 PMID:25846194 PMID:25944730 PMID:26017485 PMID:26188975 PMID:26332594 PMID:26497932 PMID:26854089 PMID:27011056 PMID:27153395 PMID:27168972 PMID:27306637 PMID:27611364 PMID:27888582 PMID:27964749 PMID:28087566 PMID:28258187 PMID:28349240 PMID:28492532 PMID:28655553 PMID:28742248 PMID:28748566 PMID:29216800 PMID:29543232 PMID:29590070 PMID:29778910 PMID:30087447 PMID:30115950 PMID:30122538 PMID:30374176 PMID:30379966 PMID:30474650 PMID:30675029 PMID:30793832 PMID:30919682 PMID:30999998 PMID:31126764 PMID:31531849 PMID:31719132 |
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NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
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G |
Col5a2 |
collagen type V alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 |
ClinVar |
PMID:20648054 PMID:28492532 |
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NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
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G |
Slc40a1 |
solute carrier family 40 member 1 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 |
ClinVar |
PMID:20648054 PMID:28492532 |
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NCBI chr 9:52,819,451...52,830,461
Ensembl chr 9:52,894,365...52,912,293
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G |
Wdr75 |
WD repeat domain 75 |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 |
ClinVar |
PMID:20648054 PMID:28492532 |
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NCBI chr 9:52,687,845...52,717,808
Ensembl chr 9:52,687,868...52,717,809
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G |
Alb |
albumin |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, procollagen proteinase deficient |
ClinVar |
PMID:2404284 PMID:8347685 |
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NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
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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, procollagen proteinase deficient |
ClinVar |
PMID:1867198 PMID:2037280 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:10931857 PMID:11090261 PMID:11317364 PMID:11432962 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16786509 PMID:16879195 PMID:17078022 PMID:17309652 PMID:18028452 PMID:18272325 PMID:18409203 PMID:18412368 PMID:18553566 PMID:18670065 PMID:18704262 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19550437 PMID:20696291 PMID:21249479 PMID:21567126 PMID:21594610 PMID:21667357 PMID:21884818 PMID:22589248 PMID:22753364 PMID:24147872 PMID:24390061 PMID:24668929 PMID:25086671 PMID:25146735 PMID:25525159 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26188975 PMID:26235824 PMID:26467025 PMID:26633542 PMID:27060301 PMID:27132807 PMID:27509835 PMID:27510842 PMID:27549894 PMID:27748872 PMID:28378289 PMID:28492532 PMID:29543232 PMID:29946973 |
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NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, procollagen proteinase deficient |
ClinVar |
PMID:25441681 |
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NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
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C1r |
complement C1r |
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ISO |
ClinVar Annotator: match by OMIM:130080 ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 8 |
ClinVar OMIM |
PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 PMID:27663155 PMID:27745832 |
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NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
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C1s |
complement C1s |
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ISO |
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE |
ClinVar |
PMID:27745832 |
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NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609
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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 |
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NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
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C1s |
complement C1s |
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ISO |
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type, 2 |
ClinVar OMIM |
PMID:25741868 PMID:27745832 |
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NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609
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Atg2b |
autophagy related 2B |
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ISO |
ClinVar Annotator: match by term: Essential thrombocythemia |
ClinVar |
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NCBI chr 6:129,449,451...129,519,599
Ensembl chr 6:129,449,449...129,509,720
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Bdkrb1 |
bradykinin receptor B1 |
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ISO |
ClinVar Annotator: match by term: Essential thrombocythemia |
ClinVar |
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NCBI chr 6:129,437,423...129,441,553
Ensembl chr 6:129,438,158...129,440,574
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Bdkrb2 |
bradykinin receptor B2 |
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ISO |
ClinVar Annotator: match by term: Essential thrombocythemia |
ClinVar |
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NCBI chr 6:129,399,468...129,429,676
Ensembl chr 6:129,399,468...129,429,676
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Calr |
calreticulin |
severity |
ISO |
DNA:mutations:multiple (human) ClinVar Annotator: match by OMIM:187950 |
OMIM ClinVar |
PMID:24325356 PMID:24325359, PMID:24496303, PMID:25860380 |
RGD:11352751, RGD:11352747 |
NCBI chr19:25,956,771...25,961,666
Ensembl chr19:25,956,771...25,961,666
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Cd36 |
CD36 molecule |
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ISO |
protein:increased expression:platelet, cell surface |
RGD |
PMID:8555064 |
RGD:11041099 |
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
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Cd40lg |
CD40 ligand |
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ISO |
protein:increased expression:serum (human) |
RGD |
PMID:22196954 |
RGD:11344979 |
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Cux2 |
cut-like homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 |
ClinVar |
PMID:20404132 |
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NCBI chr12:40,016,774...40,221,067
Ensembl chr12:40,018,937...40,219,291
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Elane |
elastase, neutrophil expressed |
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ISO |
protein:increased expression:plasma: |
RGD |
PMID:18768782 |
RGD:10450556 |
NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
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Fgf2 |
fibroblast growth factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15682418 |
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NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
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Gskip |
GSK3B interacting protein |
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ISO |
ClinVar Annotator: match by term: Essential thrombocythemia |
ClinVar |
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NCBI chr 6:129,512,950...129,536,320
Ensembl chr 6:129,519,709...129,536,221
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Jak2 |
Janus kinase 2 |
severity |
ISO |
DNA:mutation: :p.V617F (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15781101 PMID:15858187 PMID:16484586 PMID:16896569 PMID:19154659 PMID:19636672 PMID:20434300 PMID:21942426, PMID:23130336 |
RGD:10449178 |
NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
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LOC100909954 |
uncharacterized LOC100909954 |
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ISO |
ClinVar Annotator: match by term: Essential thrombocythemia |
ClinVar |
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NCBI chr 6:129,259,581...129,322,113
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Mpl |
MPL proto-oncogene, thrombopoietin receptor |
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ISO ISS |
DNA:missense mutation:cds:pS505N (human) ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar Annotator: match by term: Essential thrombocythemia OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521 ClinVar Annotator: match by term: THROMBOCYTOSIS 1 mRNA, protein:decreased expression:blood, platelet (human) |
ClinVar MouseDO |
PMID:14764528 PMID:15269348 PMID:15531462 PMID:17054430 PMID:18451306 PMID:18528423 PMID:19483125 PMID:19608689 PMID:20151976 PMID:23970983 PMID:24728327 PMID:25741868 PMID:28492532 PMID:28697167, PMID:14764528, PMID:11122159 |
RGD:10449014, RGD:10449016 |
NCBI chr 5:137,268,412...137,282,032
Ensembl chr 5:137,269,480...137,281,298
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Myb |
MYB proto-oncogene, transcription factor |
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ISS |
OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521 |
MouseDO |
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NCBI chr 1:16,658,178...16,690,135
Ensembl chr 1:16,659,442...16,687,817
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Pdgfa |
platelet derived growth factor subunit A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15682418 |
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NCBI chr12:17,734,141...17,756,186
Ensembl chr12:17,734,133...17,755,285
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Pdgfb |
platelet derived growth factor subunit B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15682418 |
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NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
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Sh2b3 |
SH2B adaptor protein 3 |
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ISO |
ClinVar Annotator: match by term: Idiopathic thrombocythemia ClinVar Annotator: match by term: Essential thrombocythemia ClinVar Annotator: match by OMIM:187950 |
OMIM ClinVar |
PMID:15705783 PMID:20404132 PMID:25741868 PMID:27651169 PMID:28484264 PMID:29590070 |
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NCBI chr12:40,261,990...40,265,757
Ensembl chr12:40,244,081...40,265,757
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Tcl1a |
Tcl1 family Akt coactivator A |
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ISO |
ClinVar Annotator: match by term: Essential thrombocythemia |
ClinVar |
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NCBI chr 6:128,888,768...128,894,761
Ensembl chr 6:128,888,768...128,894,761
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Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15682418 |
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NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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Thpo |
thrombopoietin |
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ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar Annotator: match by OMIM:187950 DNA:mutation:splice junction: |
OMIM ClinVar |
PMID:7772529 PMID:9425899 PMID:9694695 PMID:10583217 PMID:19553636 PMID:25741868 PMID:28492532, PMID:9425899 |
RGD:1580083 |
NCBI chr11:82,845,676...82,853,439
Ensembl chr11:83,868,655...83,873,910 Ensembl chr11:83,868,655...83,873,910
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Vcam1 |
vascular cell adhesion molecule 1 |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:24434346 |
RGD:11354980 |
NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
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Vwf |
von Willebrand factor |
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ISO |
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RGD |
PMID:25876231 |
RGD:11073823 |
NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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Tpp2 |
tripeptidyl peptidase 2 |
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ISO |
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |
ClinVar |
PMID:25414442 PMID:28492532 PMID:30533531 |
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NCBI chr 9:50,664,048...50,744,803 NCBI chr 9:50,578,868...50,628,943
Ensembl chr 9:50,581,234...50,744,803
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Mcfd2 |
multiple coagulation factor deficiency 2, ER cargo receptor complex subunit |
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ISO |
ClinVar Annotator: match by term: Factor v and factor viii, combined deficiency of, 2 DNA:missense mutation: :p.D122V (human) ClinVar Annotator: match by OMIM:613625 |
OMIM ClinVar |
PMID:12717434 PMID:13229969 PMID:18391077 PMID:25741868 PMID:31064749, PMID:17610559 |
RGD:11062141 |
NCBI chr 6:10,887,303...10,899,221
Ensembl chr 6:10,887,288...10,899,200
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F5 |
coagulation factor V |
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ISO |
ClinVar Annotator: match by term: Factor V deficiency ClinVar Annotator: match by term: PARAHEMOPHILIA ClinVar Annotator: match by OMIM:227400 DNA:nonsense,misense mutations:cds:c.3571C>T, c.1691G>A(human) ClinVar Annotator: match by null |
OMIM ClinVar |
PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 PMID:7968118 PMID:8049422 PMID:8164730 PMID:8164741 PMID:8566967 PMID:8616100 PMID:8822583 PMID:9245936 PMID:9339109 PMID:9372726 PMID:9415695 PMID:9454741 PMID:9459326 PMID:9488630 PMID:9518910 PMID:9576178 PMID:9694743 PMID:9734642 PMID:10328130 PMID:10348711 PMID:10477778 PMID:10494770 PMID:10507841 PMID:10666427 PMID:10942390 PMID:11018168 PMID:11110695 PMID:11418372 PMID:11435304 PMID:11564077 PMID:11686338 PMID:11781258 PMID:11950065 PMID:12069454 PMID:12070000 PMID:12393490 PMID:12421138 PMID:12816860 PMID:14996674 PMID:15208046 PMID:15534175 PMID:15638861 PMID:15946211 PMID:16246256 PMID:16476093 PMID:16493002 PMID:16769590 PMID:16931580 PMID:19486170 PMID:19652888 PMID:19900106 PMID:20051284 PMID:20735394 PMID:21116184 PMID:21774968 PMID:22044617 PMID:22992668 PMID:23382263 PMID:23900608 PMID:24033266 PMID:25741868 PMID:26251307 PMID:28492532 PMID:28750087 PMID:31064749, PMID:11564077 |
RGD:11564334 |
NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
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Lman1 |
lectin, mannose-binding, 1 |
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ISO |
F5F8D, OMIM:227300 ClinVar Annotator: match by term: Factor V deficiency |
ClinVar |
PMID:25741868, PMID:9546392 |
RGD:1600100 |
NCBI chr18:61,683,377...61,707,344
Ensembl chr18:61,685,117...61,707,317
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Tfpi |
tissue factor pathway inhibitor |
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ISO |
protein:decreased expression:plasma: |
RGD |
PMID:18695002 |
RGD:11060145 |
NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
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F10 |
coagulation factor X |
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ISO |
ClinVar Annotator: match by term: Factor VII deficiency |
ClinVar |
PMID:10984565 PMID:12181036 PMID:25741868 |
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NCBI chr16:81,803,169...81,822,476
Ensembl chr16:81,803,110...81,822,716
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F7 |
coagulation factor VII |
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ISO |
DNA:missense:R304Q, C310F ClinVar Annotator: match by term: Factor VII deficiency ClinVar Annotator: match by term: Factor VII Padua ClinVar Annotator: match by OMIM:227500 CTD Direct Evidence: marker/mechanism DNA:missense mutation, insertion:exon:p.R277C, g.11520-11521insT (human) |
ClinVar CTD OMIM |
PMID:1634227 PMID:2070047 PMID:6812354 PMID:7919338 PMID:7974346 PMID:7981691 PMID:8242057 PMID:8244334 PMID:8364544 PMID:8652821 PMID:8883260 PMID:8940045 PMID:8978290 PMID:9414278 PMID:9576180 PMID:9716591 PMID:10862079 PMID:10984565 PMID:11091194 PMID:11110717 PMID:11129332 PMID:11139238 PMID:11529858 PMID:11931672 PMID:12181036 PMID:12472587 PMID:12903033 PMID:12935978 PMID:15142120 PMID:15456489 PMID:15735798 PMID:18282149 PMID:18976247 PMID:19751712 PMID:20040857 PMID:20735728 PMID:20885134 PMID:20958793 PMID:21902896 PMID:22180436 PMID:22873696 PMID:24033266 PMID:25582404 PMID:25741868 PMID:25828579 PMID:25952977 PMID:26105150 PMID:28492532 PMID:31064749, PMID:1634227, PMID:26083983 |
RGD:1601133, RGD:11049524 |
NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
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C3 |
complement C3 |
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ISO |
protein:increased expression:blood |
RGD |
PMID:6912882 |
RGD:11041156 |
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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C5 |
complement C5 |
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ISO |
protein:increased expression:blood |
RGD |
PMID:6912882 |
RGD:11041156 |
NCBI chr 3:14,049,993...14,113,931 NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080
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Cd40lg |
CD40 ligand |
treatment |
ISO |
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RGD |
PMID:11776297 |
RGD:11352263 |
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Cfb |
complement factor B |
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ISO |
protein:increased expression:blood |
RGD |
PMID:6912882 |
RGD:11041156 |
NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066 Ensembl chr20:4,536,203...4,561,066
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Cfp |
complement factor properdin |
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ISO |
protein:increased expression:blood |
RGD |
PMID:6912882 |
RGD:11041156 |
NCBI chr X:1,311,121...1,316,683
Ensembl chr X:1,311,121...1,316,682
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F2 |
coagulation factor II |
treatment |
ISO |
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RGD |
PMID:26635073 |
RGD:11565076 |
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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F8 |
coagulation factor VIII |
treatment |
ISO IAGP IMP |
ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar Annotator: match by term: Hemophilia A, congenital ClinVar Annotator: match by term: Hemophilia A, FVIII Deficiency DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:306700 DNA:missense mutations, nonsense mutations, frameshift mutation:exon:multiple |
ClinVar CTD OMIM |
PMID:1301194 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 PMID:1412186 PMID:1523102 PMID:1559571 PMID:1569180 PMID:1569181 PMID:1639429 PMID:1643024 PMID:1671991 PMID:1840568 PMID:1851341 PMID:1908096 PMID:1908817 PMID:1923751 PMID:1924291 PMID:1969840 PMID:1973901 PMID:1979502 PMID:2104741 PMID:2104766 PMID:2105106 PMID:2105906 PMID:2106480 PMID:2107542 PMID:2109644 PMID:2110545 PMID:2121026 PMID:2121641 PMID:2125022 PMID:2159433 PMID:2473810 PMID:2493803 PMID:2495245 PMID:2498882 PMID:2506948 PMID:2510835 PMID:2563431 PMID:2567219 PMID:2831458 PMID:2833855 PMID:2835307 PMID:2861360 PMID:2887317 PMID:2901224 PMID:2907841 PMID:2986011 PMID:2987704 PMID:2993888 PMID:3035554 PMID:3097553 PMID:3122181 PMID:3131627 PMID:6253938 PMID:6438527 PMID:7579394 PMID:7662970 PMID:7728145 PMID:7794769 PMID:7959679 PMID:7984443 PMID:8011517 PMID:8052958 PMID:8054459 PMID:8069313 PMID:8281136 PMID:8307558 PMID:8322269 PMID:8449505 PMID:8485051 PMID:8490618 PMID:8497853 PMID:8547094 PMID:8576960 PMID:8584995 PMID:8639447 PMID:8644728 PMID:9184393 PMID:9326186 PMID:9452104 PMID:9569189 PMID:9594277 PMID:9792405 PMID:9829908 PMID:9886318 PMID:10215414 PMID:10338101 PMID:10404764 PMID:10519986 PMID:10609755 PMID:10896236 PMID:10910910 PMID:10910913 PMID:11102988 PMID:11110718 PMID:11189482 PMID:11298607 PMID:11341489 PMID:11410838 PMID:11442643 PMID:11554935 PMID:11713379 PMID:11748850 PMID:11843836 PMID:11857744 PMID:11858487 PMID:11918545 PMID:12139751 PMID:12204009 PMID:12351418 PMID:12406074 PMID:12871415 PMID:12884004 PMID:15471879 PMID:15569173 PMID:15625837 PMID:15710596 PMID:15735794 PMID:15741993 PMID:15810915 PMID:15921397 PMID:15996930 PMID:16051741 PMID:16128892 PMID:16173970 PMID:16601827 PMID:16769589 PMID:16786531 PMID:16834740 PMID:16972227 PMID:17209060 PMID:17222201 PMID:17445092 PMID:17498081 PMID:17550859 PMID:17610549 PMID:17610560 PMID:18034822 PMID:18184865 PMID:18217193 PMID:18371163 PMID:18387975 PMID:18403393 PMID:18479430 PMID:18565236 PMID:18600086 PMID:18691168 PMID:19369668 PMID:19377476 PMID:19456877 PMID:19473408 PMID:19473423 PMID:19719548 PMID:19719828 PMID:19740093 PMID:20028422 PMID:20102490 PMID:20108389 PMID:20193250 PMID:20300295 PMID:20301578 PMID:20331753 PMID:20331761 PMID:20431853 PMID:20533009 PMID:20800587 PMID:21070499 PMID:21217077 PMID:21371196 PMID:21462120 PMID:21645180 PMID:21645224 PMID:21645226 PMID:21689372 PMID:21751985 PMID:21838755 PMID:21883705 PMID:22103590 PMID:23534532 PMID:23625609 PMID:23711237 PMID:23809411 PMID:23812942 PMID:23913812 PMID:23961341 PMID:23963097 PMID:24033266 PMID:24086941 PMID:24108539 PMID:24118398 PMID:24134483 PMID:24953131 PMID:25326637 PMID:25708597 PMID:25741868 PMID:25948085 PMID:26383047 PMID:26879396 PMID:26897466 PMID:27292088 PMID:28492532 PMID:29296726 PMID:31064749 PMID:32581362, PMID:16786531, PMID:20626616, PMID:24931420, PMID:10612839, PMID:10468616 |
RGD:1582357, RGD:7245964, RGD:11530071, RGD:10450758, RGD:10450757 |
NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
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G |
F8em1Sage |
coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage |
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IMP |
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RGD |
PMID:24931420 |
RGD:11530071 |
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G |
F8m1Ycb |
coagulation factor VIII, procoagulant component; mutation 1, Ycb |
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IAGP |
DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat) |
RGD |
PMID:20626616 |
RGD:7245964 |
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G |
F8a1 |
coagulation factor VIII-associated 1 |
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ISO |
ClinVar Annotator: match by term: Hemophilia A |
ClinVar |
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NCBI chr 1:147,021,436...147,022,950
Ensembl chr 1:147,021,436...147,022,950
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G |
F9 |
coagulation factor IX |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hemophilia A |
CTD ClinVar |
PMID:1346975 PMID:1680287 PMID:1864609 PMID:1873221 PMID:1968152 PMID:2066105 PMID:2087690 PMID:2198809 PMID:2220823 PMID:2472424 PMID:2752109 PMID:2773937 PMID:2929599 PMID:3181127 PMID:5298508 PMID:6603618 PMID:7482402 PMID:7873393 PMID:8055323 PMID:8091381 PMID:8257988 PMID:8314564 PMID:8320491 PMID:8470048 PMID:8680410 PMID:8772212 PMID:9222764 PMID:9450791 PMID:10094553 PMID:10595634 PMID:10698280 PMID:10739381 PMID:11122099 PMID:11328285 PMID:12588353 PMID:15569175 PMID:15921378 PMID:16051741 PMID:16643212 PMID:19699296 PMID:22103590 PMID:22544209 PMID:22639855 PMID:23093250 PMID:25326637 PMID:25741868 PMID:28492532 PMID:29993188 PMID:31064749 PMID:32581362 |
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NCBI chr X:143,097,507...143,141,791
Ensembl chr X:143,097,525...143,141,794
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G |
Fcgr2a |
Fc fragment of IgG receptor IIa |
susceptibility |
ISO |
DNA:SNP:cds:p.R131H (human) |
RGD |
PMID:24916518 |
RGD:11040767 |
NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036 Ensembl chr13:91,168,973...91,198,036
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G |
Fundc2 |
FUN14 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Hemophilia A |
ClinVar |
PMID:2563431 |
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NCBI chr18:401,878...407,954
Ensembl chr18:402,295...407,954
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G |
Hmox1 |
heme oxygenase 1 |
treatment |
ISO |
DNA:repeat:promoter |
RGD |
PMID:23716558 |
RGD:10755564 |
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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G |
Ifng |
interferon gamma |
treatment |
ISO |
DNA:SNP: :+874 A>T (human) |
RGD |
PMID:25930091 |
RGD:11055683 |
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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G |
Il10 |
interleukin 10 |
treatment |
ISO |
DNA:SNPs, haplotypes:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human) |
RGD |
PMID:20082647 |
RGD:11049183 |
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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G |
Mthfr |
methylenetetrahydrofolate reductase |
severity no_association |
ISO |
DNA:SNP: :677C>T (human) DNA:SNP: :1298A>C (human) |
RGD |
PMID:22411997, PMID:22411997 |
RGD:10449409, RGD:10449409 |
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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G |
Plat |
plasminogen activator, tissue type |
treatment |
ISO |
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RGD |
PMID:1419807 |
RGD:11552591 |
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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G |
RT1-Ba |
RT1 class II, locus Ba |
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ISO |
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RGD |
PMID:9157572 |
RGD:11041784 |
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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G |
Tfpi |
tissue factor pathway inhibitor |
treatment |
ISO |
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RGD |
PMID:24263002, PMID:24687919, PMID:22355108 |
RGD:11060141, RGD:11060256, RGD:11060147 |
NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
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G |
Tgfb1 |
transforming growth factor, beta 1 |
treatment |
ISO |
DNA:polymorphism: :869T>C(rs1982037)(human) |
RGD |
PMID:25930091 |
RGD:11055683 |
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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G |
Vwf |
von Willebrand factor |
treatment |
ISO |
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RGD |
PMID:25955153 |
RGD:11073776 |
NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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G |
F8 |
coagulation factor VIII |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11886462 |
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NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
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G |
F10 |
coagulation factor X |
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ISO |
DNA:point mutations:R366C;DNA:frameshift ClinVar Annotator: match by term: Factor X deficiency ClinVar Annotator: match by OMIM:227600 DNA:deletion:cds:c.302delG(human) |
ClinVar OMIM |
PMID:1939653 PMID:1973167 PMID:1985698 PMID:2790181 PMID:7669671 PMID:7860069 PMID:8449937 PMID:8845463 PMID:8910490 PMID:10468877 PMID:10746568 PMID:10984565 PMID:12181036 PMID:25582404 PMID:25741868 PMID:26879396 PMID:28492532 PMID:29590070 PMID:31064749, PMID:2790181, PMID:22008904 |
RGD:1601104, RGD:11041731 |
NCBI chr16:81,803,169...81,822,476
Ensembl chr16:81,803,110...81,822,716
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G |
F11 |
coagulation factor XI |
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ISO |
ClinVar Annotator: match by term: Factor X deficiency |
ClinVar |
PMID:25741868 PMID:31064749 |
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NCBI chr16:50,179,458...50,201,644
Ensembl chr16:50,179,458...50,201,698
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G |
F7 |
coagulation factor VII |
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ISO |
ClinVar Annotator: match by term: Factor X deficiency |
ClinVar |
PMID:10984565 PMID:12181036 PMID:25741868 |
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NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
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G |
Cyp4v3 |
cytochrome P450, family 4, subfamily v, polypeptide 3 |
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ISO |
ClinVar Annotator: match by term: Hereditary factor XI deficiency disease |
ClinVar |
PMID:32581362 |
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NCBI chr16:50,111,803...50,136,741
Ensembl chr16:50,111,306...50,136,727
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G |
F11 |
coagulation factor XI |
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ISO |
ClinVar Annotator: match by term: Plasma factor XI deficiency ClinVar Annotator: match by term: Hereditary factor XI deficiency disease ClinVar Annotator: match by OMIM:612416 DNA:nonsense mutation:exon:G263X(human) DNA:missense, nonsense, duplication, deletion:cds: |
ClinVar OMIM |
PMID:1547342 PMID:2052060 PMID:2813350 PMID:7669672 PMID:7888672 PMID:8832909 PMID:9401068 PMID:9787168 PMID:10444286 PMID:10593931 PMID:10606881 PMID:10706758 PMID:11122101 PMID:11127865 PMID:11418471 PMID:11895778 PMID:12586617 PMID:12716376 PMID:12879434 PMID:14508802 PMID:14717969 PMID:15026311 PMID:15090552 PMID:15140127 PMID:15140147 PMID:15180874 PMID:15456490 PMID:15531455 PMID:15634276 PMID:15728123 PMID:15749683 PMID:15842381 PMID:15870541 PMID:15946525 PMID:15953011 PMID:15968392 PMID:16079124 PMID:16086308 PMID:16519703 PMID:16607084 PMID:16787881 PMID:16835901 PMID:17229051 PMID:17549289 PMID:18005151 PMID:18024374 PMID:18327400 PMID:18388506 PMID:18446632 PMID:18515884 PMID:18758779 PMID:18832909 PMID:18839438 PMID:19367158 PMID:19652879 PMID:20015217 PMID:20398070 PMID:20523169 PMID:21192253 PMID:21457405 PMID:21649796 PMID:21668437 PMID:21718436 PMID:21824284 PMID:22016685 PMID:22159456 PMID:22197449 PMID:23305485 PMID:23315997 PMID:23332144 PMID:23929304 PMID:24033266 PMID:24112640 PMID:24982842 PMID:25074526 PMID:25158988 PMID:25681615 PMID:25741868 PMID:25741869 PMID:26558335 PMID:26879396 PMID:27067486 PMID:27710856 PMID:27723456 PMID:28492532 PMID:28960694 PMID:31064749 PMID:32581362, PMID:2813350, PMID:10706758, PMID:11127865 |
RGD:1598923, RGD:11041742, RGD:11041741 |
NCBI chr16:50,179,458...50,201,644
Ensembl chr16:50,179,458...50,201,698
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Klkb1 |
kallikrein B1 |
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ISO |
ClinVar Annotator: match by term: Hereditary factor XI deficiency disease |
ClinVar |
PMID:32581362 |
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NCBI chr16:50,151,127...50,175,407
Ensembl chr16:50,152,008...50,175,458
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G |
F12 |
coagulation factor XII |
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ISO |
DNA:missense:exon:C571S ClinVar Annotator: match by term: Factor 12 deficiency ClinVar Annotator: match by term: Factor XII deficiency disease ClinVar Annotator: match by term: Hageman factor deficiency ClinVar Annotator: match by OMIM:234000 DNA:deletion mutations, transversion mutation:introns, exon: DNA:missense, nonsense, deletion mutations:cds: DNA:polymorphism:promoter:-46C>T(human) |
ClinVar OMIM |
PMID:8528215 PMID:9354665 PMID:9490684 PMID:10361128 PMID:10984376 PMID:11843842 PMID:16638441 PMID:17186468 PMID:17825897 PMID:18974842 PMID:19178938 PMID:19474702 PMID:19786295 PMID:19933701 PMID:20303064 PMID:20490261 PMID:21264442 PMID:21690105 PMID:21920016 PMID:23188048 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:25744496 PMID:25790805 PMID:26286125 PMID:28492532, PMID:2510163, PMID:18024408, PMID:20386432, PMID:11248286 |
RGD:1601107, RGD:11041805, RGD:11041772, RGD:11041769 |
NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
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G |
Slc34a1 |
solute carrier family 34 member 1 |
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ISO |
ClinVar Annotator: match by term: Hageman factor deficiency ClinVar Annotator: match by term: Factor 12 deficiency ClinVar Annotator: match by term: Factor XII deficiency disease |
ClinVar |
PMID:8528215 PMID:9354665 PMID:9490684 PMID:10361128 PMID:10984376 PMID:11843842 PMID:16638441 PMID:17186468 PMID:17825897 PMID:18974842 PMID:19178938 PMID:19474702 PMID:19786295 PMID:19933701 PMID:20303064 PMID:20490261 PMID:21264442 PMID:21690105 PMID:21920016 PMID:23188048 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:25744496 PMID:25790805 PMID:26286125 PMID:28492532 |
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NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
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G |
F13a1 |
coagulation factor XIII A1 chain |
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ISO |
DNA:nonsense mutation:intron: ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease CTD Direct Evidence: marker/mechanism DNA:polymorphism:intron:IVS1+12C>A(human) DNA:insertion, missense mutation:cds: DNA:nonsense mutations, missense mutations:cds: DNA:mutation:cds:p.R703W(human) |
ClinVar CTD |
PMID:1644910 PMID:31136071, PMID:21512576, PMID:23508224, PMID:19937244, PMID:20179087, PMID:19438481 |
RGD:10450726, RGD:11041869, RGD:10450730, RGD:10450729, RGD:10450727 |
NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
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F13b |
coagulation factor XIII B chain |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Factor XIII deficiency |
CTD ClinVar |
PMID:2334637 PMID:25741868 |
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NCBI chr13:56,598,891...56,623,132
Ensembl chr13:56,598,957...56,623,124
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G |
Lman1 |
lectin, mannose-binding, 1 |
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ISO |
F5F8D, OMIM:227300 |
RGD |
PMID:9546392 |
RGD:1600100 |
NCBI chr18:61,683,377...61,707,344
Ensembl chr18:61,685,117...61,707,317
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G |
F13a1 |
coagulation factor XIII A1 chain |
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ISO |
ClinVar Annotator: match by term: Factor XIII subunit A deficiency DNA:deletions, mutation: exons, splice site:c.980G>A (R326Q),c.1112+2T>C,c.215 delA) DNA:nonsense, missense mutations:exons:p.R661X,p.T242M(human) |
OMIM ClinVar |
PMID:1353995 PMID:1644910 PMID:7236530 PMID:7727776 PMID:7918041 PMID:8025280 PMID:8547636 PMID:9459313 PMID:9531026 PMID:9531593 PMID:9550516 PMID:9712293 PMID:9920838 PMID:10027709 PMID:10365735 PMID:10910914 PMID:11167856 PMID:11380452 PMID:11692020 PMID:12072871 PMID:12100162 PMID:12456499 PMID:14695539 PMID:16763156 PMID:17393027 PMID:19438481 PMID:20179087 PMID:21512576 PMID:21633364 PMID:22995991 PMID:24118344 PMID:24194833 PMID:25741868 PMID:26503545 PMID:28492532 PMID:28520207 PMID:31064749, PMID:24118344, PMID:8025280 |
RGD:11041856, RGD:11041811 |
NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
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G |
F13b |
coagulation factor XIII B chain |
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ISO |
ClinVar Annotator: match by term: Factor XIII, b subunit, deficiency of ClinVar Annotator: match by term: Factor xiii, b subunit, deficiency of ClinVar Annotator: match by OMIM:613235 DNA:mutations:multiple: ClinVar Annotator: match by null |
OMIM ClinVar |
PMID:2334637 PMID:8324218 PMID:8639893 PMID:11313256 PMID:12456499 PMID:14695539 PMID:16241947 PMID:25741868 PMID:28492532, PMID:20331752 |
RGD:10450738 |
NCBI chr13:56,598,891...56,623,132
Ensembl chr13:56,598,957...56,623,124
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G |
Ace |
angiotensin I converting enzyme |
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ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:20488708 |
RGD:11039024 |
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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G |
Cand2 |
cullin-associated and neddylation-dissociated 2 (putative) |
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ISO |
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RGD |
PMID:31426861 |
RGD:18899564 |
NCBI chr 4:147,686,487...147,714,593
Ensembl chr 4:147,686,490...147,714,585
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G |
Fcgr3a |
Fc fragment of IgG receptor IIIa |
treatment |
ISO |
DNA:polymorphism: :p.V176F (human) |
RGD |
PMID:21538321 |
RGD:11344956 |
NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
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G |
Lman1 |
lectin, mannose-binding, 1 |
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ISO |
ClinVar Annotator: match by term: FMFD I ClinVar Annotator: match by term: Combined deficiency of factor V and factor VIII, 1 ClinVar Annotator: match by OMIM:227300 |
OMIM ClinVar |
PMID:9045860 PMID:9546392 PMID:18391077 PMID:25741868 PMID:31064749 |
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NCBI chr18:61,683,377...61,707,344
Ensembl chr18:61,685,117...61,707,317
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G |
Mcfd2 |
multiple coagulation factor deficiency 2, ER cargo receptor complex subunit |
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ISO |
ClinVar Annotator: match by term: Combined deficiency of factor V and factor VIII, 1 ClinVar Annotator: match by term: FMFD I |
ClinVar |
PMID:12717434 PMID:13229969 PMID:25741868 PMID:31064749 |
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NCBI chr 6:10,887,303...10,899,221
Ensembl chr 6:10,887,288...10,899,200
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G |
Runx1 |
RUNX family transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Platelet disorder, Aspirin-like ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy |
OMIM ClinVar |
PMID:10068652 PMID:10508512 PMID:11830488 PMID:12060124 PMID:12172547 PMID:12200707 PMID:12393679 PMID:12807882 PMID:14504086 PMID:15156185 PMID:15749889 PMID:17234761 PMID:17290219 PMID:17485549 PMID:17650443 PMID:18478040 PMID:18723428 PMID:19357396 PMID:19387465 PMID:20549580 PMID:20846103 PMID:20880108 PMID:20955399 PMID:22012064 PMID:22318203 PMID:22689681 PMID:23751892 PMID:23753029 PMID:23817177 PMID:23848403 PMID:24100448 PMID:24523240 PMID:24659740 PMID:24764152 PMID:24904105 PMID:25159113 PMID:25741868 PMID:25840971 PMID:26175287 PMID:26316320 PMID:26580448 PMID:26884589 PMID:27112265 PMID:27137476 PMID:27210295 PMID:27418648 PMID:27479822 PMID:28179279 PMID:28240786 PMID:28492532 PMID:28513614 PMID:28659335 PMID:28748566 PMID:28855357 PMID:28933735 PMID:28960434 PMID:29146883 PMID:29365323 PMID:29666006 PMID:30990344 PMID:31064749 PMID:32581362 |
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NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
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G |
Myh9 |
myosin, heavy chain 9 |
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ISO |
ClinVar Annotator: match by term: Giant platelet syndrome with thrombocytopenia |
ClinVar |
PMID:10739770 PMID:10973259 PMID:10973260 PMID:11590545 PMID:25741868 PMID:29090586 |
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NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
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G |
Itga2 |
integrin subunit alpha 2 |
severity |
ISO |
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RGD |
PMID:14687991 |
RGD:1582297 |
NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
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G |
Itga2b |
integrin subunit alpha 2b |
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ISO |
ClinVar Annotator: match by term: Glanzmann thrombasthenia ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 ClinVar Annotator: match by term: Glanzmann's thrombasthenia DNA:deletion:exon DNA:insertion/deletion:exon ClinVar Annotator: match by OMIM:273800 |
OMIM ClinVar |
PMID:1317725 PMID:1638023 PMID:1702098 PMID:1926040 PMID:2014236 PMID:7508443 PMID:7620188 PMID:7706461 PMID:8282784 PMID:8704171 PMID:8883261 PMID:9215749 PMID:9473221 PMID:9722314 PMID:9734640 PMID:9763559 PMID:9834222 PMID:9920835 PMID:10607701 PMID:11091187 PMID:11798398 PMID:12008952 PMID:12083483 PMID:12181054 PMID:12424194 PMID:12487785 PMID:15099289 PMID:15748238 PMID:16463284 PMID:16722529 PMID:16879215 PMID:17488698 PMID:18422845 PMID:18791937 PMID:19170775 PMID:19172520 PMID:19339519 PMID:19691478 PMID:20020534 PMID:20492470 PMID:21113249 PMID:21454453 PMID:21487445 PMID:21557682 PMID:21917754 PMID:22102273 PMID:22190468 PMID:22250950 PMID:22394243 PMID:22513797 PMID:22738334 PMID:23305224 PMID:24418945 PMID:25373348 PMID:25539746 PMID:25728920 PMID:25741868 PMID:25827233 PMID:27607598 PMID:27696190 PMID:28232155 PMID:28492532 PMID:28888044 PMID:28983057 PMID:29090484 PMID:29675921 PMID:29884513 PMID:30792900 PMID:31064749 PMID:31119735 PMID:32139434 PMID:32237906 PMID:32581362, PMID:8111043, PMID:7529063 |
RGD:10755480, RGD:10755476 |
NCBI chr10:90,397,960...90,416,550
Ensembl chr10:90,398,132...90,415,070
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Itgb3 |
integrin subunit beta 3 |
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ISO |
ClinVar Annotator: match by OMIM:273800 ClinVar Annotator: match by term: Glanzmann thrombasthenia ClinVar Annotator: match by term: Glanzmann thrombasthenia type A ClinVar Annotator: match by term: Glanzmann's thrombasthenia ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:1371279 PMID:1430225 PMID:1438206 PMID:1602006 PMID:2014236 PMID:2392682 PMID:2428841 PMID:7570918 PMID:7694683 PMID:8132570 PMID:8457479 PMID:8471765 PMID:8598867 PMID:8667943 PMID:8838346 PMID:9160670 PMID:9215749 PMID:9351872 PMID:9376589 PMID:9700201 PMID:9787162 PMID:9845537 PMID:10233432 PMID:10583927 PMID:10727448 PMID:11723016 PMID:12083483 PMID:12152649 PMID:12353082 PMID:14516468 PMID:14629479 PMID:14690453 PMID:15583747 PMID:15701721 PMID:16463284 PMID:16722529 PMID:17264806 PMID:19570064 PMID:19691478 PMID:19821948 PMID:20020534 PMID:20804530 PMID:21113249 PMID:21287507 PMID:21658138 PMID:22190468 PMID:22250950 PMID:22490273 PMID:22862885 PMID:24236036 PMID:24617330 PMID:24685245 PMID:25373348 PMID:25539746 PMID:25728920 PMID:25741868 PMID:25827233 PMID:27469266 PMID:28492532 PMID:28748566 PMID:30138987 PMID:30792900 PMID:30828542 PMID:31064749 PMID:31088191 PMID:31565851 PMID:32139434 PMID:32237906 PMID:32581362, PMID:1967954 |
RGD:10755474 |
NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
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G |
Tbx5 |
T-box transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 |
ClinVar |
PMID:25326637 PMID:25741868 PMID:28492532 |
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NCBI chr12:42,059,688...42,148,226
Ensembl chr12:42,097,626...42,148,146
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G |
Ccdc12 |
coiled-coil domain containing 12 |
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ISO |
ClinVar Annotator: match by term: Gray platelet syndrome |
ClinVar |
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NCBI chr 8:118,925,682...118,977,038
Ensembl chr 8:118,926,478...118,977,051
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G |
Gfi1b |
growth factor independent 1B transcriptional repressor |
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ISO |
DNA:nonsense mutation:c.859C>T, p.Gln287X(human) |
RGD |
PMID:24325358 |
RGD:11040508 |
NCBI chr 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
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G |
Nbeal2 |
neurobeachin-like 2 |
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ISO |
ClinVar Annotator: match by term: Gray platelet syndrome ClinVar Annotator: match by OMIM:139090 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:21765411 PMID:21765412 PMID:21765413 PMID:25741868 PMID:28492532 PMID:31064749 PMID:32581362 PMID:32693407 |
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NCBI chr 8:118,893,987...118,924,390
Ensembl chr 8:118,893,995...118,926,613
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G |
Alb |
albumin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6734075 |
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NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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IEP |
protein:increased expression:plasma (rat) |
RGD |
PMID:10201001 |
RGD:11528527 |
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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G |
Ccl3 |
C-C motif chemokine ligand 3 |
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ISO |
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RGD |
PMID:17220320 |
RGD:7241820 |
NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
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G |
Cd36 |
CD36 molecule |
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ISO |
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RGD |
PMID:16197457 |
RGD:6893534 |
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
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G |
Cd46 |
CD46 molecule |
susceptibility |
ISO |
DNA:frameshift mutation:cds:p.N233X3 (human) DNA:mutations:multiple (human) DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human) |
RGD |
PMID:14615110, PMID:16189652, PMID:14566051 |
RGD:11352767, RGD:11531138, RGD:11352770 |
NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
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G |
Cfh |
complement factor H |
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ISO ISS |
DNA:mutations, polymorphisms:promoter, exon:multiple OMIM:235400 | OMIM:612922 | OMIM:612923 | OMIM:612924 | OMIM:612925 | OMIM:612926 |
MouseDO |
PMID:14583443 |
RGD:11041164 |
NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
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G |
Dgke |
diacylglycerol kinase epsilon |
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ISO |
ClinVar Annotator: match by term: Hemolytic-uremic syndrome |
ClinVar |
PMID:25854283 |
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NCBI chr10:76,375,981...76,408,224
Ensembl chr10:76,386,471...76,407,989
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G |
Epo |
erythropoietin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12053072 |
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NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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G |
F2 |
coagulation factor II |
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ISO |
associated with diarrhea;protein:increased expression:plasma (human) |
RGD |
PMID:9423793 |
RGD:40818428 |
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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G |
Fos |
Fos proto-oncogene, AP-1 transcription factor subunit |
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ISO |
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RGD |
PMID:15632024 |
RGD:7242276 |
NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
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G |
Hp |
haptoglobin |
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ISO |
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RGD |
PMID:6218601 |
RGD:1626361 |
NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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G |
Il1a |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15384034 |
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NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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G |
Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15384034 |
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NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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G |
Il1rl1 |
interleukin 1 receptor-like 1 |
severity |
ISO |
associated with Escherichia Coli Infections; |
RGD |
PMID:30467800 |
RGD:39458200 |
NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
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G |
Il1rn |
interleukin 1 receptor antagonist |
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ISO |
protein:increased concentration:serum (human) |
RGD |
PMID:9802632, PMID:12373296 |
RGD:6909134, RGD:6909171 |
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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G |
Il6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15384034 |
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NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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G |
Mbl2 |
mannose binding lectin 2 |
treatment |
ISO |
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RGD |
PMID:27378476 |
RGD:11530050 |
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12588957 |
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NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
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G |
Pla2g7 |
phospholipase A2 group VII |
severity |
ISO |
associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human) |
RGD |
PMID:10873870 |
RGD:7257516 |
NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
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G |
Plat |
plasminogen activator, tissue type |
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ISO |
associated with Escherichia coli Infections;protein:increased expression:plasma (human) |
RGD |
PMID:11777999 |
RGD:11541069 |
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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G |
Thbd |
thrombomodulin |
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ISO |
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RGD |
PMID:22942429 |
RGD:11038690 |
NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
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G |
Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15384034 |
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NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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G |
Atp11c |
ATPase phospholipid transporting 11C |
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ISO |
ClinVar Annotator: match by term: Hemophilia B |
ClinVar |
PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 PMID:28492532 |
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NCBI chr X:143,340,712...143,525,588
Ensembl chr X:143,346,252...143,453,612
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G |
F2 |
coagulation factor II |
treatment |
ISO |
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RGD |
PMID:26635073 |
RGD:11565076 |
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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G |
F8 |
coagulation factor VIII |
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ISO |
ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar Annotator: match by term: Hemophilia B |
ClinVar |
PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 PMID:1671991 PMID:1908096 PMID:1924291 PMID:1979502 PMID:2104741 PMID:2106480 PMID:2493803 PMID:2498882 PMID:2506948 PMID:2833855 PMID:2987704 PMID:6438527 PMID:7728145 PMID:7794769 PMID:8281136 PMID:8307558 PMID:8449505 PMID:8490618 PMID:8547094 PMID:8584995 PMID:8639447 PMID:8644728 PMID:9326186 PMID:9452104 PMID:9569189 PMID:9829908 PMID:9886318 PMID:10338101 PMID:10404764 PMID:10519986 PMID:10896236 PMID:10910910 PMID:11102988 PMID:11298607 PMID:11341489 PMID:11410838 PMID:11442643 PMID:11843836 PMID:11857744 PMID:12139751 PMID:12204009 PMID:12871415 PMID:15569173 PMID:15625837 PMID:15810915 PMID:15921397 PMID:15996930 PMID:16128892 PMID:16173970 PMID:16601827 PMID:16769589 PMID:16786531 PMID:16834740 PMID:16972227 PMID:17222201 PMID:17445092 PMID:17610549 PMID:18034822 PMID:18387975 PMID:18403393 PMID:18565236 PMID:18600086 PMID:18691168 PMID:19456877 PMID:19473408 PMID:19473423 PMID:19719828 PMID:20102490 PMID:20193250 PMID:20300295 PMID:20331753 PMID:20533009 PMID:20800587 PMID:21070499 PMID:21371196 PMID:21751985 PMID:21838755 PMID:21883705 PMID:23625609 PMID:23812942 PMID:25741868 PMID:25824987 PMID:29296726 PMID:31064749 |
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NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
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G |
F9 |
coagulation factor IX |
treatment |
ISO |
ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar Annotator: match by term: Factor IX deficiency ClinVar Annotator: match by term: Hemophilia B ClinVar Annotator: match by term: Hemophilia b(m) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:306900 DNA:mutations:cds:P.G396R,K411X,I397T(human) DNA:nonsense mutation:cds:p.R338X (human) ClinVar Annotator: match by term: Hemophilia B Brandenburg ClinVar Annotator: match by synonym: Hemophilia B Leyden ClinVar Annotator: match by synonym: HEMOPHILIA B(M) |
ClinVar CTD OMIM |
PMID:734633 PMID:884315 PMID:1346483 PMID:1346975 PMID:1357229 PMID:1579901 PMID:1598234 PMID:1615485 PMID:1615486 PMID:1631121 PMID:1631558 PMID:1680287 PMID:1733855 PMID:1864609 PMID:1873221 PMID:1897528 PMID:1902289 PMID:1958666 PMID:1968152 PMID:1969838 PMID:1972560 PMID:1986380 PMID:1998585 PMID:2004020 PMID:2066105 PMID:2087690 PMID:2093364 PMID:2111833 PMID:2198809 PMID:2220823 PMID:2270538 PMID:2320433 PMID:2339358 PMID:2342576 PMID:2352926 PMID:2355000 PMID:2370049 PMID:2372509 PMID:2388855 PMID:2438804 PMID:2450455 PMID:2472424 PMID:2494175 PMID:2563663 PMID:2564457 PMID:2592373 PMID:2714791 PMID:2738071 PMID:2741941 PMID:2743975 PMID:2752109 PMID:2753873 PMID:2757966 PMID:2762170 PMID:2773937 PMID:2775660 PMID:2821070 PMID:2831715 PMID:2841226 PMID:2846283 PMID:2848757 PMID:2873459 PMID:2875754 PMID:2886685 PMID:2917196 PMID:2929599 PMID:2992643 PMID:3009023 PMID:3029178 PMID:3181127 PMID:3243764 PMID:3262389 PMID:3392024 PMID:3401602 PMID:3411192 PMID:3416069 PMID:3790720 PMID:3857619 PMID:4033760 PMID:4045960 PMID:4163943 PMID:5298508 PMID:5450691 PMID:6603618 PMID:6843667 PMID:7062952 PMID:7101232 PMID:7482402 PMID:7677806 PMID:7734378 PMID:7873393 PMID:7937052 PMID:8055323 PMID:8091381 PMID:8178822 PMID:8199596 PMID:8217825 PMID:8251390 PMID:8257988 PMID:8304338 PMID:8314564 PMID:8318985 PMID:8320491 PMID:8352232 PMID:8365725 PMID:8392713 PMID:8412791 PMID:8434583 PMID:8470048 PMID:8478007 PMID:8499919 PMID:8499951 PMID:8594556 PMID:8680410 PMID:8772212 PMID:8825645 PMID:9222764 PMID:9450791 PMID:9525872 PMID:9590153 PMID:9600455 PMID:10094553 PMID:10595634 PMID:10698280 PMID:10739381 PMID:10874302 PMID:10942410 PMID:10980527 PMID:11013449 PMID:11122099 PMID:11328285 PMID:12588353 PMID:12780784 PMID:12997790 PMID:15086324 PMID:15569175 PMID:15921378 PMID:16270648 PMID:16643212 PMID:17397055 PMID:18479429 PMID:18624698 PMID:19286883 PMID:19522246 PMID:19686262 PMID:19699296 PMID:19815722 PMID:19846852 PMID:20301668 PMID:20695909 PMID:22103590 PMID:22544209 PMID:22639855 PMID:22707612 PMID:23093250 PMID:23472758 PMID:23617593 PMID:24375831 PMID:25326637 PMID:25470321 PMID:25741868 PMID:25851415 PMID:26612714 PMID:27213901 PMID:27529981 PMID:27824213 PMID:28168417 PMID:28492532 PMID:28752769 PMID:28834196 PMID:29993188 PMID:31064749 PMID:32581362, | |