ONTOLOGY REPORT - ANNOTATIONS


Term:blood protein disease
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Accession:DOID:620 term browser browse the term
Definition:Hematologic diseases caused by structural or functional defects of BLOOD PROTEINS.
Synonyms:exact_synonym: Blood Protein Disorder;   Blood Protein Disorders
 primary_id: MESH:D001796;   RDO:0004777
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blood protein disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:11035265
Acquired Protein C Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:11080962
acute chest syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:10450838
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:10450838
G Hbb hemoglobin subunit beta JBrowse link 1 168,971,269 168,972,680 RGD:10449047
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:10755560
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:11533931
RGD:11533934
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:11075233
RGD:11075235
adenosine deaminase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ada adenosine deaminase JBrowse link 3 160,115,840 160,139,947 RGD:7240710
RGD:8554872
G Brca1 BRCA1, DNA repair associated JBrowse link 10 89,394,821 89,455,093 RGD:8554872
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:8554872
agammaglobulinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Blnk B-cell linker JBrowse link 1 260,187,023 260,254,490 RGD:1600518
RGD:11554173
G Btk Bruton tyrosine kinase JBrowse link X 105,360,922 105,390,580 RGD:1600526
RGD:8554872
RGD:11554173
G Cd19 CD19 molecule JBrowse link 1 197,815,422 197,822,123 RGD:11554173
G Cd79a CD79a molecule JBrowse link 1 81,763,609 81,768,039 RGD:11554173
G Cd79b CD79b molecule JBrowse link 10 94,497,445 94,500,591 RGD:11554173
G Lrrc8a leucine rich repeat containing 8 VRAC subunit A JBrowse link 3 8,801,544 8,829,506 RGD:1599837
RGD:11554173
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 JBrowse link 2 31,742,326 31,826,882 RGD:13592920
G Sec61a1 Sec61 translocon alpha 1 subunit JBrowse link 4 120,453,577 120,467,932 RGD:8554872
G Tcf3 transcription factor 3 JBrowse link 7 12,146,642 12,168,400 RGD:11554173
Agammaglobulinemia 3, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd79a CD79a molecule JBrowse link 1 81,763,609 81,768,039 RGD:7240710
RGD:8554872
Agammaglobulinemia 5, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrrc8a leucine rich repeat containing 8 VRAC subunit A JBrowse link 3 8,801,544 8,829,506 RGD:7240710
RGD:8554872
Agammaglobulinemia 6, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd79b CD79b molecule JBrowse link 10 94,497,445 94,500,591 RGD:7240710
RGD:8554872
Agammaglobulinemia 7, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 JBrowse link 2 31,742,326 31,826,882 RGD:7240710
RGD:8554872
Agammaglobulinemia 8, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tcf3 transcription factor 3 JBrowse link 7 12,146,642 12,168,400 RGD:8554872
RGD:7240710
Agammaglobulinemia, non-Bruton type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btk Bruton tyrosine kinase JBrowse link X 105,360,922 105,390,580 RGD:8554872
G Cd79a CD79a molecule JBrowse link 1 81,763,609 81,768,039 RGD:8554872
ANALBUMINEMIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:7240710
RGD:8554872
Anhaptoglobinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hp haptoglobin JBrowse link 19 42,096,255 42,100,805 RGD:8554872
RGD:7240710
G Txnl4b thioredoxin-like 4B JBrowse link 19 42,101,081 42,110,223 RGD:8554872
antithrombin III deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpinc1 serpin family C member 1 JBrowse link 13 78,806,107 78,820,375 RGD:1599321
RGD:8554872
RGD:11554173
RGD:7240710
ataxia with oculomotor apraxia type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aptx aprataxin JBrowse link 5 56,987,714 57,009,481 RGD:7240710
RGD:8554872
RGD:10054301
RGD:10054300
RGD:1599207
autoimmune lymphoproliferative syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prkcd protein kinase C, delta JBrowse link 16 6,655,131 6,675,746 RGD:7240710
RGD:8554872
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfrsf11a TNF receptor superfamily member 11A JBrowse link 13 25,778,306 25,835,802 RGD:7240710
RGD:8554872
B cell linker protein deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Blnk B-cell linker JBrowse link 1 260,187,023 260,254,490 RGD:7240710
RGD:8554872
G Zfp518a zinc finger protein 518A JBrowse link 1 260,152,881 260,178,360 RGD:8554872
Bruton-type agammaglobulinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btk Bruton tyrosine kinase JBrowse link X 105,360,922 105,390,580 RGD:7240710
RGD:8554872
RGD:11040698
RGD:11040588
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 JBrowse link 2 31,742,326 31,826,882 RGD:13592920
CD40 ligand deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:5490298
RGD:8554872
RGD:11554173
RGD:11039457
RGD:8547781
RGD:8547779
RGD:7240710
common variable immunodeficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aco2 aconitase 2 JBrowse link 7 123,102,493 123,145,608 RGD:8554872
G Ccdc134 coiled-coil domain containing 134 JBrowse link 7 123,362,471 123,376,930 RGD:8554872
G Cd19 CD19 molecule JBrowse link 1 197,815,422 197,822,123 RGD:7240710
RGD:8554872
RGD:11554173
G Cd81 Cd81 molecule JBrowse link 1 216,237,663 216,253,460 RGD:11554173
G Cenpm centromere protein M JBrowse link 7 123,464,615 123,476,336 RGD:8554872
G Cr2 complement C3d receptor 2 JBrowse link 13 113,890,274 113,927,824 RGD:11554173
G Csdc2 cold shock domain containing C2 JBrowse link 7 123,168,811 123,183,336 RGD:8554872
G Dclre1c DNA cross-link repair 1C JBrowse link 17 78,782,512 78,812,140 RGD:11251730
G Desi1 desumoylating isopeptidase 1 JBrowse link 7 123,238,332 123,259,636 RGD:8554872
G Fcgr2a Fc fragment of IgG receptor IIa JBrowse link 13 91,146,878 91,163,691 RGD:5147988
G Icos inducible T-cell co-stimulator JBrowse link 9 67,748,157 67,786,808 RGD:7240710
RGD:8554872
G Ikzf1 IKAROS family zinc finger 1 JBrowse link 14 91,782,281 91,867,828 RGD:11554173
G Il21 interleukin 21 JBrowse link 2 123,965,021 123,972,356 RGD:11554173
G Il21r interleukin 21 receptor JBrowse link 1 196,996,405 197,024,185 RGD:6892941
G Lrba LPS responsive beige-like anchor protein JBrowse link 2 185,590,983 186,110,491 RGD:13592920
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:4889436
G Mei1 meiotic double-stranded break formation protein 1 JBrowse link 7 123,308,041 123,361,391 RGD:8554872
G Mir33 microRNA 33 JBrowse link 7 123,431,612 123,431,680 RGD:8554872
G Ms4a1 membrane spanning 4-domains A1 JBrowse link 1 227,429,241 227,441,492 RGD:7240710
G Naga alpha-N-acetylgalactosaminidase JBrowse link 7 123,563,047 123,572,074 RGD:8554872
G Nfkb1 nuclear factor kappa B subunit 1 JBrowse link 2 240,773,520 240,890,053 RGD:11554173
G Nfkb2 nuclear factor kappa B subunit 2 JBrowse link 1 266,050,634 266,059,277 RGD:8554872
RGD:11554173
G Pecam1 platelet and endothelial cell adhesion molecule 1 JBrowse link 10 94,850,971 94,913,202 RGD:6771226
G Phf5a PHD finger protein 5A JBrowse link 7 123,095,286 123,101,851 RGD:8554872
G Pmm1 phosphomannomutase 1 JBrowse link 7 123,183,504 123,193,874 RGD:8554872
G Polr3h RNA polymerase III subunit H JBrowse link 7 123,146,248 123,156,558 RGD:8554872
G Rangap1 RAN GTPase activating protein 1 JBrowse link 7 122,939,266 122,967,178 RGD:8554872
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:5147864
G Sept3 septin 3 JBrowse link 7 123,506,535 123,526,542 RGD:8554872
G Shisa8 shisa family member 8 JBrowse link 7 123,440,163 123,445,613 RGD:8554872
G Snu13 small nuclear ribonucleoprotein 13 JBrowse link 7 123,282,754 123,287,721 RGD:8554872
G Srebf2 sterol regulatory element binding transcription factor 2 JBrowse link 7 123,381,082 123,438,605 RGD:8554872
G Tef TEF transcription factor, PAR bZIP family member JBrowse link 7 123,033,971 123,058,606 RGD:8554872
G Tnfrsf13b TNF receptor superfamily member 13B JBrowse link 10 47,399,834 47,422,907 RGD:7240710
RGD:8554872
G Tnfrsf13c TNF receptor superfamily member 13C JBrowse link 7 123,453,799 123,456,289 RGD:7240710
RGD:8554872
G Tnfsf12 TNF superfamily member 12 JBrowse link 10 56,290,780 56,300,137 RGD:8554872
G Tob2 transducer of ERBB2, 2 JBrowse link 7 123,079,520 123,088,240 RGD:8554872
G Wbp2nl WBP2 N-terminal like JBrowse link 7 123,531,657 123,548,574 RGD:8554872
G Xrcc6 X-ray repair cross complementing 6 JBrowse link 7 123,259,881 123,280,613 RGD:8554872
G Zc3h7b zinc finger CCCH-type containing 7B JBrowse link 7 122,978,999 123,027,166 RGD:8554872
Common Variable Immunodeficiency 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nfkb2 nuclear factor kappa B subunit 2 JBrowse link 1 266,050,634 266,059,277 RGD:7240710
RGD:8554872
Common Variable Immunodeficiency 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il21 interleukin 21 JBrowse link 2 123,965,021 123,972,356 RGD:8554872
RGD:7240710
Common Variable Immunodeficiency 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nfkb1 nuclear factor kappa B subunit 1 JBrowse link 2 240,773,520 240,890,053 RGD:8554872
RGD:7240710
Common Variable Immunodeficiency 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ikzf1 IKAROS family zinc finger 1 JBrowse link 14 91,782,281 91,867,828 RGD:8554872
RGD:7240710
Common Variable Immunodeficiency 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Irf2bp2 interferon regulatory factor 2 binding protein 2 JBrowse link 19 59,497,021 59,502,298 RGD:8554872
RGD:7240710
Common Variable Immunodeficiency 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd81 Cd81 molecule JBrowse link 1 216,237,663 216,253,460 RGD:7240710
RGD:8554872
Common Variable Immunodeficiency 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cr2 complement C3d receptor 2 JBrowse link 13 113,890,274 113,927,824 RGD:8554872
RGD:7240710
Common Variable Immunodeficiency 8, with Autoimmunity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrba LPS responsive beige-like anchor protein JBrowse link 2 185,590,983 186,110,491 RGD:7240710
RGD:8554872
Congenital Thrombotic Disease, due to Protein C Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Proc protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 18 24,918,402 24,928,822 RGD:11554173
cryoglobulinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd86 CD86 molecule JBrowse link 11 67,060,305 67,117,990 RGD:11354974
G Ifnl3 interferon, lambda 3 JBrowse link 1 85,236,243 85,237,775 RGD:11528546
G Tcn2 transcobalamin 2 JBrowse link 14 84,173,992 84,189,299 RGD:11060121
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10450529
G Tslp thymic stromal lymphopoietin JBrowse link 18 25,613,601 25,618,066 RGD:13592920
Cryoglobulinemia, Familial Mixed term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fcgr3a Fc fragment of IgG receptor IIIa JBrowse link 13 89,385,775 89,396,047 RGD:11344956
dysgammaglobulinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:1599480
G Igkc immunoglobulin kappa constant RGD:11554173
G Ung uracil-DNA glycosylase JBrowse link 12 48,246,593 48,255,547 RGD:1599705
Hereditary Thrombophilia, due To Protein C Deficiency, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Proc protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 18 24,918,402 24,928,822 RGD:8554872
RGD:7240710
Hereditary Thrombophilia, due to Protein C Deficiency, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Proc protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 18 24,918,402 24,928,822 RGD:7240710
RGD:8554872
Hereditary Thrombophilia, due to Protein S Deficiency, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pros1 protein S JBrowse link 7 1,206,648 1,288,140 RGD:7240710
RGD:8554872
Hereditary Thrombophilia, due to Protein S Deficiency, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arl13b ADP-ribosylation factor like GTPase 13B JBrowse link 7 1,122,567 1,188,209 RGD:8554872
G Pros1 protein S JBrowse link 7 1,206,648 1,288,140 RGD:7240710
RGD:8554872
G Stx19 syntaxin 19 JBrowse link 7 1,145,002 1,149,978 RGD:8554872
Hyper-IgE Recurrent Infection Syndrome 1, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il4r interleukin 4 receptor JBrowse link 1 196,942,343 196,967,221 RGD:11530003
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:6892956
RGD:7240710
Hyper-IgE Recurrent Infection Syndrome 2, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dock8 dedicator of cytokinesis 8 JBrowse link 1 242,934,685 243,153,472 RGD:7240710
Hyper-IgE Recurrent Infection Syndrome 3, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp341 zinc finger protein 341 JBrowse link 3 150,114,853 150,172,425 RGD:8554872
RGD:7240710
Hypergammaglobulinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B2m beta-2 microglobulin JBrowse link 3 114,087,287 114,093,311 RGD:11554173
G Tlr9 toll-like receptor 9 JBrowse link 8 114,916,122 114,920,171 RGD:7245987
Hypergastrinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Reg1a regenerating family member 1 alpha JBrowse link 4 109,497,962 109,500,626 RGD:9850135
hyperimmunoglobulin syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aicda activation-induced cytidine deaminase JBrowse link 4 155,359,909 155,371,104 RGD:1598906
RGD:11554173
RGD:8554872
RGD:11039485
RGD:11039483
RGD:11039457
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:1599479
RGD:11554173
RGD:8554872
G Ung uracil-DNA glycosylase JBrowse link 12 48,246,593 48,255,547 RGD:8554872
RGD:11554173
Hypoalbuminemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A2m alpha-2-macroglobulin JBrowse link 4 154,309,426 154,359,138 RGD:10046046
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:11035279
RGD:11554173
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:11352734
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11554173
G Tnfrsf1b TNF receptor superfamily member 1B JBrowse link 5 163,136,390 163,167,299 RGD:11554173
Hypogammaglobulinemia, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btk Bruton tyrosine kinase JBrowse link X 105,360,922 105,390,580 RGD:8554872
Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:7240710
RGD:8554872
RGD:12791265
Hypoproteinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:1599028
RGD:734959
G Apoa1 apolipoprotein A1 JBrowse link 8 50,525,091 50,526,875 RGD:1599161
G B2m beta-2 microglobulin JBrowse link 3 114,087,287 114,093,311 RGD:1599429
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:11352738
G Lipc lipase C, hepatic type JBrowse link 8 77,272,582 77,398,485 RGD:2308785
G Rps6kb1 ribosomal protein S6 kinase B1 JBrowse link 10 73,824,200 73,865,503 RGD:1643028
immunodeficiency with hyper IgM type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ung uracil-DNA glycosylase JBrowse link 12 48,246,593 48,255,547 RGD:8554872
RGD:7240710
Immunodeficiency with Hyper IgM, Type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:7240710
RGD:8554872
immunodeficiency with hyper-IgM type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aicda activation-induced cytidine deaminase JBrowse link 4 155,359,909 155,371,104 RGD:8554872
RGD:7240710
Immunoglobulin A Deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfrsf13b TNF receptor superfamily member 13B JBrowse link 10 47,399,834 47,422,907 RGD:7240710
RGD:8554872
immunoglobulin alpha deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:11554173
G Clec16a C-type lectin domain containing 16A JBrowse link 10 5,002,196 5,196,914 RGD:11554173
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 JBrowse link 9 67,699,397 67,706,068 RGD:11344917
G Icos inducible T-cell co-stimulator JBrowse link 9 67,748,157 67,786,808 RGD:11344917
G Ifih1 interferon induced with helicase C domain 1 JBrowse link 3 48,557,696 48,604,097 RGD:11554173
G Pvt1 Pvt1 oncogene JBrowse link 7 102,648,394 102,871,316 RGD:11554173
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:11041755
RGD:11041756
G Tnfrsf13b TNF receptor superfamily member 13B JBrowse link 10 47,399,834 47,422,907 RGD:13592920
isolated growth hormone deficiency type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btk Bruton tyrosine kinase JBrowse link X 105,360,922 105,390,580 RGD:7240710
RGD:8554872
Job's syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1H9orf66 chromosome 1 open reading frame, human C9orf66 JBrowse link 1 242,958,912 242,961,750 RGD:8554872
G Dock8 dedicator of cytokinesis 8 JBrowse link 1 242,934,685 243,153,472 RGD:8554872
RGD:11554173
G Dop1a DOP1 leucine zipper like protein A JBrowse link 8 94,122,733 94,225,131 RGD:8554872
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11554173
G Pgm3 phosphoglucomutase 3 JBrowse link 8 94,225,513 94,243,230 RGD:8554872
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:11554173
RGD:8554872
mevalonic aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crp C-reactive protein JBrowse link 13 91,080,448 91,081,358 RGD:9585642
G Mmab metabolism of cobalamin associated B JBrowse link 12 47,920,712 47,935,438 RGD:8554872
G Mvk mevalonate kinase JBrowse link 12 47,904,266 47,920,457 RGD:7240710
RGD:8554872
RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:9585642
monoclonal gammopathy of uncertain significance term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 JBrowse link 9 67,699,397 67,706,068 RGD:11352247
G Nefh neurofilament heavy JBrowse link 14 85,181,572 85,191,557 RGD:9693726
multiple myeloma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg2 ATP binding cassette subfamily G member 2 JBrowse link 4 88,765,441 88,890,268 RGD:11081075
RGD:11081144
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:11038914
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:11035276
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:11040544
G B2m beta-2 microglobulin JBrowse link 3 114,087,287 114,093,311 RGD:8554872
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:11554173
G Bcl2l1 Bcl2-like 1 JBrowse link 3 148,259,594 148,314,191 RGD:11353847
RGD:11554173
G Bcl2l10 BCL2 like 10 JBrowse link 8 82,288,705 82,294,750 RGD:14392808
G Bnip3 BCL2 interacting protein 3 JBrowse link 1 211,248,098 211,265,282 RGD:11554173
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
G Btg1 BTG anti-proliferation factor 1 JBrowse link 7 37,812,831 37,815,088 RGD:11554173
G Cbl Cbl proto-oncogene JBrowse link 8 48,481,256 48,564,775 RGD:11038794
G Cbx7 chromobox 7 JBrowse link 7 121,136,067 121,153,503 RGD:11352716
RGD:11554173
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:11554173
G Ccnd1 cyclin D1 JBrowse link 1 218,090,750 218,100,447 RGD:1581171
RGD:8554872
RGD:11554173
RGD:11353784
RGD:7240710
G Ccnd2 cyclin D2 JBrowse link 4 159,674,885 159,697,207 RGD:1581171
G Ccnd3 cyclin D3 JBrowse link 9 15,404,816 15,410,905 RGD:1581171
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:11522720
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:11352240
RGD:11352268
RGD:11352251
G Cd46 CD46 molecule JBrowse link 13 113,786,525 113,818,741 RGD:11352814
G Cd86 CD86 molecule JBrowse link 11 67,060,305 67,117,990 RGD:11354971
RGD:11554173
G Cdk4 cyclin-dependent kinase 4 JBrowse link 7 70,345,971 70,352,689 RGD:8554872
G Cdkn2a cyclin-dependent kinase inhibitor 2A JBrowse link 5 107,823,323 107,832,405 RGD:11252185
RGD:11554173
G Cfhr1 complement factor H-related 1 JBrowse link 13 56,862,666 56,877,650 RGD:11040544
G Chi3l1 chitinase 3 like 1 JBrowse link 13 51,022,844 51,030,797 RGD:4892645
G Crbn cereblon JBrowse link 4 138,864,910 138,885,786 RGD:11554173
G Csf2 colony stimulating factor 2 JBrowse link 10 39,602,089 39,604,070 RGD:11554173
G Csf3 colony stimulating factor 3 JBrowse link 10 86,616,785 86,619,160 RGD:11554173
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 JBrowse link 9 67,699,397 67,706,068 RGD:11352247
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 8 62,472,087 62,478,122 RGD:11352726
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 JBrowse link 1 147,713,879 147,814,410 RGD:11352748
RGD:11352804
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 JBrowse link 7 123,599,264 123,608,436 RGD:11352804
G Eng endoglin JBrowse link 3 11,679,530 11,717,486 RGD:11041181
G Ephx1 epoxide hydrolase 1 JBrowse link 13 99,271,390 99,300,580 RGD:11252116
RGD:11554173
RGD:11252122
RGD:11252121
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:10450871
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:11252199
G Faslg Fas ligand JBrowse link 13 79,696,811 79,717,581 RGD:11049149
G Fcgr2a Fc fragment of IgG receptor IIa JBrowse link 13 91,146,878 91,163,691 RGD:11040778
RGD:11040938
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:11554173
RGD:8554872
G Fgg fibrinogen gamma chain JBrowse link 2 181,987,080 181,994,523 RGD:11040544
G Flt3lg fms-related tyrosine kinase 3 ligand JBrowse link 1 101,126,006 101,131,413 RGD:11075232
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:11352777
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:10450826
RGD:10450846
G Gstp1 glutathione S-transferase pi 1 JBrowse link 1 219,291,679 219,294,147 RGD:10755413
RGD:11075094
RGD:10755419
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:10450846
RGD:11554173
RGD:10450847
G Hfe homeostatic iron regulator JBrowse link 17 43,661,276 43,669,327 RGD:8694350
G Hk1 hexokinase 1 JBrowse link 20 31,911,460 31,979,780 RGD:11353882
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:8554872
G Hspb1 heat shock protein family B (small) member 1 JBrowse link 12 23,839,390 23,841,051 RGD:11554173
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:11354981
RGD:11520780
G Idh1 isocitrate dehydrogenase (NADP(+)) 1, cytosolic JBrowse link 9 71,882,108 71,911,645 RGD:8554872
G Idh2 isocitrate dehydrogenase (NADP(+)) 2, mitochondrial JBrowse link 1 141,874,354 141,893,674 RGD:8554872
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11041888
RGD:11049458
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11049156
RGD:11059513
RGD:11051973
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11051973
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:11051973
RGD:11522764
G Il4r interleukin 4 receptor JBrowse link 1 196,942,343 196,967,221 RGD:11040938
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11554173
G Irf4 interferon regulatory factor 4 JBrowse link 17 34,886,746 34,905,191 RGD:11526161
RGD:11554173
RGD:11530055
RGD:11530019
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:1581756
RGD:8554872
G Lig4 DNA ligase 4 JBrowse link 16 85,331,771 85,339,496 RGD:1600305
RGD:8554872
RGD:7240710
G LOC100364500 RT1 class I, locus CE11-like JBrowse link 20 2,704,153 2,707,111 RGD:11554173
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:13592920
G Mcl1 MCL1 apoptosis regulator, BCL2 family member JBrowse link 2 197,786,212 197,788,992 RGD:11554173
G Mefv MEFV innate immuity regulator, pyrin JBrowse link 10 12,045,813 12,056,229 RGD:11531123
G Met MET proto-oncogene, receptor tyrosine kinase JBrowse link 4 44,747,467 44,854,628 RGD:2317526
G Mir19a microRNA 19a JBrowse link 15 100,180,162 100,180,243 RGD:11554173
G Mir92a1 microRNA 92a-1 JBrowse link 15 100,180,586 100,180,663 RGD:11554173
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:10449397
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:11075095
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:11075095
G Muc1 mucin 1, cell surface associated JBrowse link 2 188,543,137 188,547,874 RGD:11554173
G Myd88 MYD88, innate immune signal transduction adaptor JBrowse link 8 128,022,512 128,027,462 RGD:8554872
G Nfkbia NFKB inhibitor alpha JBrowse link 6 76,267,227 76,270,457 RGD:2298898
RGD:2298895
G Notch2 notch receptor 2 JBrowse link 2 200,187,184 200,320,403 RGD:1580763
G Nqo1 NAD(P)H quinone dehydrogenase 1 JBrowse link 19 38,422,210 38,437,103 RGD:10769348
RGD:11554173
RGD:10755419
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:11535049
RGD:8554872
G Nuak1 NUAK family kinase 1 JBrowse link 7 25,039,336 25,111,118 RGD:11554173
G Parp1 poly (ADP-ribose) polymerase 1 JBrowse link 13 98,857,255 98,889,444 RGD:11554173
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:11552578
RGD:10450846
RGD:11040544
G Prame preferentially expressed antigen in melanoma JBrowse link X 106,082,984 106,091,256 RGD:11535030
RGD:11554173
G Psors1c2 psoriasis susceptibility 1 candidate 2 JBrowse link 20 3,727,817 3,728,805 RGD:11554173
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:11554173
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
G Ranbp2 RAN binding protein 2 JBrowse link 20
20
28,027,054
28,365,538
28,076,664
28,375,676
RGD:9835349
G Runx1 runt-related transcription factor 1 JBrowse link 11 32,765,147 33,003,061 RGD:6482834
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:1581238
RGD:11554173
G Sparc secreted protein acidic and cysteine rich JBrowse link 10 40,742,390 40,764,232 RGD:11554173
G Spp1 secreted phosphoprotein 1 JBrowse link 14 6,673,686 6,679,965 RGD:1581367
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11038665
G Tfrc transferrin receptor JBrowse link 11 71,397,423 71,419,263 RGD:11062101
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11073605
RGD:11073614
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10449450
RGD:10449453
G Tnfrsf10b tumor necrosis factor receptor superfamily, member 10b JBrowse link 15 51,433,853 51,464,215 RGD:11038719
G Tnfrsf13b TNF receptor superfamily member 13B JBrowse link 10 47,399,834 47,422,907 RGD:11554173
G Tnfrsf17 TNF receptor superfamily member 17 JBrowse link 10 4,252,097 4,258,335 RGD:2317306
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:11073716
RGD:8554872
RGD:11075073
RGD:11073728
G Tyms thymidylate synthetase JBrowse link 9 121,918,875 121,931,564 RGD:11075094
RGD:11075095
G Ulk4 unc-51 like kinase 4 JBrowse link 8 129,631,003 129,919,080 RGD:11554173
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:11079182
G Xpo5 exportin 5 JBrowse link 9 17,125,201 17,163,170 RGD:11041735
G Xrcc4 X-ray repair cross complementing 4 JBrowse link 2 18,674,496 18,927,463 RGD:8698655
G Xrcc5 X-ray repair cross complementing 5 JBrowse link 9 79,659,275 79,748,050 RGD:8698655
plasmacytic leukemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:5490532
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11038665
protein C deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Proc protein C, inactivator of coagulation factors Va and VIIIa JBrowse link 18 24,918,402 24,928,822 RGD:1578392
RGD:11554173
RGD:11099985
RGD:11099984
protein S deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pros1 protein S JBrowse link 7 1,206,648 1,288,140 RGD:1599209
RGD:8554872
RGD:11251679
RGD:11251677
RGD:11250419
RGD:11250418
RGD:11250415
RGD:1578677
G Tfpi tissue factor pathway inhibitor JBrowse link 3 71,852,738 71,902,127 RGD:11060129
RGD:11060140
Schnitzler syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:7794711
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:11522758
RGD:11554173
selective IgG deficiency disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:10755693
sickle cell anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alad aminolevulinate dehydratase JBrowse link 5 78,368,867 78,379,206 RGD:12904674
G Apob apolipoprotein B JBrowse link 6 33,176,826 33,216,381 RGD:11354943
G Bcl11a BAF chromatin remodeling complex subunit BCL11A JBrowse link 14 108,826,717 108,921,197 RGD:11099970
RGD:11100007
RGD:11099996
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:11040773
RGD:11040777
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase JBrowse link 6 26,657,507 26,680,459 RGD:11554173
G Cd36 CD36 molecule JBrowse link 4 14,150,309 14,191,498 RGD:6893506
RGD:11041114
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:11352270
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:11041159
RGD:11041160
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 JBrowse link 1 147,713,879 147,814,410 RGD:11352749
G Dhodh dihydroorotate dehydrogenase (quinone) JBrowse link 19 42,066,103 42,087,906 RGD:11554173
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:11565074
RGD:11565080
G F3 coagulation factor III, tissue factor JBrowse link 2 225,310,686 225,322,281 RGD:11341683
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:11352756
RGD:11352775
RGD:11352757
G Gsr glutathione-disulfide reductase JBrowse link 16 62,197,617 62,239,987 RGD:11059503
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:10450863
G Hbb hemoglobin subunit beta JBrowse link 1 168,971,269 168,972,680 RGD:1600892
RGD:8554872
RGD:11554173
RGD:7240710
G Hbe1 hemoglobin subunit epsilon 1 JBrowse link 1 169,003,904 169,005,184 RGD:11353858
RGD:11353860
G Hk1 hexokinase 1 JBrowse link 20 31,911,460 31,979,780 RGD:11353884
G Hmbs hydroxymethylbilane synthase JBrowse link 8 48,667,278 48,674,673 RGD:12904674
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:10755563
RGD:10755565
G Hp haptoglobin JBrowse link 19 42,096,255 42,100,805 RGD:11554173
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11046271
G Il5 interleukin 5 JBrowse link 10 39,066,716 39,069,587 RGD:11354938
G Mdm2 MDM2 proto-oncogene JBrowse link 7 60,719,060 60,743,618 RGD:10412315
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:10449403
RGD:10449420
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:11533647
G Nppb natriuretic peptide B JBrowse link 5 164,796,176 164,797,538 RGD:5685653
RGD:11554173
G Pecam1 platelet and endothelial cell adhesion molecule 1 JBrowse link 10 94,850,971 94,913,202 RGD:11541101
G Pgf placental growth factor JBrowse link 6 108,994,016 109,004,598 RGD:6483588
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:11553835
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:11041761
G Selp selectin P JBrowse link 13 82,428,914 82,464,629 RGD:6219007
G Spta1 spectrin, alpha, erythrocytic 1 JBrowse link 13 92,264,231 92,340,091 RGD:13592920
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11062147
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10449460
RGD:11554173
G Umps uridine monophosphate synthetase JBrowse link 11 70,034,181 70,044,590 RGD:11554173
G Vcam1 vascular cell adhesion molecule 1 JBrowse link 2 219,071,193 219,090,931 RGD:11554173
Sickle Cell Retinopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:8554869
Sickle Cell Trait term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hbb hemoglobin subunit beta JBrowse link 1 168,971,269 168,972,680 RGD:8554872
G Hp haptoglobin JBrowse link 19 42,096,255 42,100,805 RGD:5147416
RGD:5147440
Tyrosine Kinase 2 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyk2 tyrosine kinase 2 JBrowse link 8 22,118,224 22,149,807 RGD:7240710
RGD:8554872
Vaso-occlusive Crisis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:10450860
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:10450838
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:11530044
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:11533931
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) JBrowse link 10 90,296,144 90,312,401 RGD:11100023
Waldenstroem's macroglobulinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cxcr4 C-X-C motif chemokine receptor 4 JBrowse link 13 45,314,952 45,318,856 RGD:11352304
G Fcgr3a Fc fragment of IgG receptor IIIa JBrowse link 13 89,385,775 89,396,047 RGD:11040774
RGD:11352262
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11049165
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11049165
G Irf4 interferon regulatory factor 4 JBrowse link 17 34,886,746 34,905,191 RGD:11530052
G Myd88 MYD88, innate immune signal transduction adaptor JBrowse link 8 128,022,512 128,027,462 RGD:8554872
RGD:11554173
RGD:7240710
X-linked hyper IgM syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      hematopoietic system disease 1365
        blood protein disease 228
          Anhaptoglobinemia 2
          Corticosteroid-Binding Globulin, Elevated 0
          Hypergammaglobulinemia + 12
          Hypergastrinemia 1
          Hypoglobulinemia and Absent B Cells 0
          Hypoproteinemia + 10
          Kininogen Deficiency, High Molecular Weight and Low Molecular Weight 0
          Paraproteinemias + 111
          Plasma Clot Retraction Factor, Deficiency of 0
          agammaglobulinemia + 56
          antithrombin III deficiency 1
          dysgammaglobulinemia + 23
          protein C deficiency + 2
          protein S deficiency + 4
          sickle cell anemia + 42
          sulfhemoglobinemia + 0
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      Hemic and Lymphatic Diseases 1580
        hematopoietic system disease 1365
          blood protein disease 228
            Anhaptoglobinemia 2
            Corticosteroid-Binding Globulin, Elevated 0
            Hypergammaglobulinemia + 12
            Hypergastrinemia 1
            Hypoglobulinemia and Absent B Cells 0
            Hypoproteinemia + 10
            Kininogen Deficiency, High Molecular Weight and Low Molecular Weight 0
            Paraproteinemias + 111
            Plasma Clot Retraction Factor, Deficiency of 0
            agammaglobulinemia + 56
            antithrombin III deficiency 1
            dysgammaglobulinemia + 23
            protein C deficiency + 2
            protein S deficiency + 4
            sickle cell anemia + 42
            sulfhemoglobinemia + 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.