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RGD DISEASE ONTOLOGY - ANNOTATIONS

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.

Term:sickle cell anemia
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Accession:DOID:10923 term browser browse the term
Definition:A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.
Synonyms:exact_synonym: Hb-SS disease without crisis;   HbS disease;   Sickle Cell Anemias;   Sickle Cell Disease;   Sickle Cell Diseases;   drepanocytosis;   haemoglobin SC disease;   hemoglobin S disease;   hemoglobin S disease without crisis;   hemoglobin S diseases;   sickle cell anaemia;   sickle cell disorder;   sickle cell disorders;   sickle-cell/Hb-C disease without crisis;   sickling disorder due to hemoglobin S
 related_synonym: HEMOGLOBIN D (IRAN);   HEMOGLOBIN KORLE-BU;   Hemoglobin Chori;   Hemoglobin Quebec-Chori
 primary_id: MESH:D000755
 alt_id: OMIM:603903
 xref: GARD:8614;   ICD10CM:D57.1;   ICD10CM:D57.2;   ICD9CM:282.6;   ICD9CM:282.63;   NCI:C34383;   NCI:C34676;   ORDO:232
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
sickle cell anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
JBrowse link
G Apob apolipoprotein B treatment ISO RGD PMID:24035168 RGD:11354943 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Bcl11a BAF chromatin remodeling complex subunit BCL11A severity
treatment
ISO DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human) RGD PMID:18667698, PMID:22360576, PMID:21998251 RGD:11099970, RGD:11100007, RGD:11099996 NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
JBrowse link
G C3 complement C3 severity ISO protein:increased processing RGD PMID:7554454, PMID:3896597 RGD:11040773, RGD:11040777 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
JBrowse link
G Cd36 CD36 molecule treatment ISO protein:increased expression:erythrocyte RGD PMID:18322255, PMID:20015873 RGD:6893506, RGD:11041114 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:plasma (human) RGD PMID:24368019 RGD:11352270 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cfb complement factor B ISO protein:decreased activity RGD PMID:10440069, PMID:12793071 RGD:11041159, RGD:11041160 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 susceptibility ISO DNA:polymorphisms: :c.681 G>A,wildtype(human) RGD PMID:20831548 RGD:11352749 NCBI chr 1:147,713,879...147,814,410
Ensembl chr 1:147,713,892...147,888,007
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:42,066,103...42,087,906
Ensembl chr19:42,066,351...42,082,012
JBrowse link
G F2 coagulation factor II disease_progression ISO protein:increased expression:plasma: RGD PMID:26286849, PMID:8191393 RGD:11565074, RGD:11565080 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:plasma RGD PMID:15795541 RGD:11341683 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO protein:decreased expression:penis RGD PMID:19951064, PMID:20846340, PMID:22620981 RGD:11352756, RGD:11352775, RGD:11352757 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased activity:erythrocyte: RGD PMID:14717789 RGD:11059503 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO RGD PMID:23049400 RGD:10450863 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S
ClinVar Annotator: match by term: HEMOGLOBIN KORLE-BU
ClinVar Annotator: match by term: Sickle cell disease
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN)
ClinVar Annotator: match by OMIM:603903
ClinVar
CTD
OMIM
PMID:14973 PMID:49057 PMID:81926 PMID:88735 PMID:429843 PMID:700140 PMID:721614 PMID:750553 PMID:893136 PMID:909565 PMID:932531 PMID:974261 PMID:1112610 PMID:1148394 PMID:1177278 PMID:1244906 PMID:1301203 PMID:1353069 PMID:1376298 PMID:1390250 PMID:1427786 PMID:1428944 PMID:1428947 PMID:1463768 PMID:1483699 PMID:1517108 PMID:1517111 PMID:1581247 PMID:1586746 PMID:1610915 PMID:1634236 PMID:1634366 PMID:1634368 PMID:1680789 PMID:1732017 PMID:1734721 PMID:1740317 PMID:1769663 PMID:1787101 PMID:1802884 PMID:1850955 PMID:1873227 PMID:1917531 PMID:1960615 PMID:1967205 PMID:1971109 PMID:1986365 PMID:1986379 PMID:2004023 PMID:2005117 PMID:2014803 PMID:2018842 PMID:2079437 PMID:2123063 PMID:2197725 PMID:2200760 PMID:2200762 PMID:2207008 PMID:2239966 PMID:2291577 PMID:2296310 PMID:2298457 PMID:2298920 PMID:2306523 PMID:2307460 PMID:2393712 PMID:2412200 PMID:2430648 PMID:2434529 PMID:2446680 PMID:2458145 PMID:2467892 PMID:2539344 PMID:2563949 PMID:2577233 PMID:2579336 PMID:2582106 PMID:2606727 PMID:2634667 PMID:2703363 PMID:2713503 PMID:2753736 PMID:2822177 PMID:2867271 PMID:2875755 PMID:2887538 PMID:2888754 PMID:2891298 PMID:2893541 PMID:2895770 PMID:2898142 PMID:2898460 PMID:2898955 PMID:2903765 PMID:2915972 PMID:2930724 PMID:2987224 PMID:2987809 PMID:3014870 PMID:3031297 PMID:3048433 PMID:3114175 PMID:3170235 PMID:3354556 PMID:3403716 PMID:3417300 PMID:3422218 PMID:3462712 PMID:3557993 PMID:3557994 PMID:3557998 PMID:3623977 PMID:3683554 PMID:3690667 PMID:3752087 PMID:3821796 PMID:3828533 PMID:3840039 PMID:3859465 PMID:3942130 PMID:3955238 PMID:3957690 PMID:4018033 PMID:4078867 PMID:4129558 PMID:4232783 PMID:4351905 PMID:4361439 PMID:4715135 PMID:4725603 PMID:4991321 PMID:5050915 PMID:5481775 PMID:5609824 PMID:5619995 PMID:5658717 PMID:5672850 PMID:5722880 PMID:5863839 PMID:5915974 PMID:6016610 PMID:6019668 PMID:6162860 PMID:6166632 PMID:6188062 PMID:6189507 PMID:6190800 PMID:6198908 PMID:6246994 PMID:6264391 PMID:6264477 PMID:6268660 PMID:6270663 PMID:6272289 PMID:6275383 PMID:6280057 PMID:6285354 PMID:6292840 PMID:6304979 PMID:6308558 PMID:6310991 PMID:6316272 PMID:6322284 PMID:6434492 PMID:6457059 PMID:6469698 PMID:6500990 PMID:6572978 PMID:6583683 PMID:6583702 PMID:6584911 PMID:6585381 PMID:6585831 PMID:6664996 PMID:6668188 PMID:6671904 PMID:6695908 PMID:6714226 PMID:6733281 PMID:6826539 PMID:6852251 PMID:6859036 PMID:6896219 PMID:6985481 PMID:7073867 PMID:7076659 PMID:7104238 PMID:7137165 PMID:7151176 PMID:7173395 PMID:7177196 PMID:7229029 PMID:7312624 PMID:7338475 PMID:7395858 PMID:7522523 PMID:7558878 PMID:7668219 PMID:7668221 PMID:7691242 PMID:7795641 PMID:7852087 PMID:7908281 PMID:7993409 PMID:8091935 PMID:8095930 PMID:8161774 PMID:8195010 PMID:8199027 PMID:8199597 PMID:8201467 PMID:8262525 PMID:8330981 PMID:8373896 PMID:8435318 PMID:8462981 PMID:8494004 PMID:8602996 PMID:8619407 PMID:8718703 PMID:8839873 PMID:8917506 PMID:8978308 PMID:9048934 PMID:9101288 PMID:9113933 PMID:9140720 PMID:9160698 PMID:9163586 PMID:9223924 PMID:9225979 PMID:9340427 PMID:9342003 PMID:9401495 PMID:9450794 PMID:9490703 PMID:9495372 PMID:9556665 PMID:9653159 PMID:9834244 PMID:9845707 PMID:9859938 PMID:9875660 PMID:9949622 PMID:10203101 PMID:10335989 PMID:10367791 PMID:10520021 PMID:10583251 PMID:10602954 PMID:10612821 PMID:11001883 PMID:11179419 PMID:11196276 PMID:11300348 PMID:11425418 PMID:11545326 PMID:11559932 PMID:11713529 PMID:11734002 PMID:11741197 PMID:11791878 PMID:11830454 PMID:11857746 PMID:11880644 PMID:11939510 PMID:12000828 PMID:12124399 PMID:12144056 PMID:12144057 PMID:12149194 PMID:12172041 PMID:12210807 PMID:12383672 PMID:12403491 PMID:12488606 PMID:12709369 PMID:12764548 PMID:12850492 PMID:12955718 PMID:13066514 PMID:13108995 PMID:13115700 PMID:13369537 PMID:13464827 PMID:13590135 PMID:13618691 PMID:13685866 PMID:13716853 PMID:13852872 PMID:13872094 PMID:14160125 PMID:14197371 PMID:14282052 PMID:14370233 PMID:14405428 PMID:14492555 PMID:14576320 PMID:14613965 PMID:14715623 PMID:14734204 PMID:14808148 PMID:15000665 PMID:15108284 PMID:15114532 PMID:15181845 PMID:15257926 PMID:15278762 PMID:15333505 PMID:15470211 PMID:15481886 PMID:15543018 PMID:15654898 PMID:15658184 PMID:15697092 PMID:15727901 PMID:15761692 PMID:15768552 PMID:15973412 PMID:16001361 PMID:16044458 PMID:16103715 PMID:16114182 PMID:16175509 PMID:16291734 PMID:16311287 PMID:16370487 PMID:16370495 PMID:16470532 PMID:16540414 PMID:16540415 PMID:16750922 PMID:16821247 PMID:17008283 PMID:17278112 PMID:17287491 PMID:17331080 PMID:17365006 PMID:17486493 PMID:17486505 PMID:17565724 PMID:17655700 PMID:17655708 PMID:17774955 PMID:17932132 PMID:17949282 PMID:17994378 PMID:18024613 PMID:18048408 PMID:18056002 PMID:18081706 PMID:18192399 PMID:18266208 PMID:18294253 PMID:18495504 PMID:18568278 PMID:18603555 PMID:18976160 PMID:19000664 PMID:19061217 PMID:19254853 PMID:19429541 PMID:19440680 PMID:19460936 PMID:19631632 PMID:19657842 PMID:19727720 PMID:19758965 PMID:19783722 PMID:19841268 PMID:19843386 PMID:19958184 PMID:19958185 PMID:19958198 PMID:19960060 PMID:20035706 PMID:20090224 PMID:20110664 PMID:20132300 PMID:20233970 PMID:20301551 PMID:20301599 PMID:20305663 PMID:20309827 PMID:20395516 PMID:20412082 PMID:20437613 PMID:20492708 PMID:20524821 PMID:20642331 PMID:20704537 PMID:20737602 PMID:20788973 PMID:20838957 PMID:20861612 PMID:20954261 PMID:21119755 PMID:21131035 PMID:21194265 PMID:21228398 PMID:21250876 PMID:21302591 PMID:21389146 PMID:21417574 PMID:21423179 PMID:21509314 PMID:21529713 PMID:21599435 PMID:21732929 PMID:21733559 PMID:21797702 PMID:21797703 PMID:21931510 PMID:22010933 PMID:22028795 PMID:22075726 PMID:22110956 PMID:22145566 PMID:22188014 PMID:22200002 PMID:22244832 PMID:22260787 PMID:22271886 PMID:22335963 PMID:22392582 PMID:22563936 PMID:22625666 PMID:22690826 PMID:22851993 PMID:22975760 PMID:22995479 PMID:23162295 PMID:23234478 PMID:23297836 PMID:23321370 PMID:23348723 PMID:23383304 PMID:23425204 PMID:23457306 PMID:23543793 PMID:23590658 PMID:23637309 PMID:23647352 PMID:23651435 PMID:23729725 PMID:24033266 PMID:24052702 PMID:24055728 PMID:24080465 PMID:24086942 PMID:24099628 PMID:24200214 PMID:24245819 PMID:24265529 PMID:24368026 PMID:24369358 PMID:24401016 PMID:24493127 PMID:24581976 PMID:24616059 PMID:24616209 PMID:24814631 PMID:24857915 PMID:24880717 PMID:24957539 PMID:25000193 PMID:25016698 PMID:25023084 PMID:25023085 PMID:25023086 PMID:25087612 PMID:25089872 PMID:25113778 PMID:25135424 PMID:25155404 PMID:25244406 PMID:25332589 PMID:25332633 PMID:25370867 PMID:25408857 PMID:25480500 PMID:25525159 PMID:25525381 PMID:25572186 PMID:25617386 PMID:25666204 PMID:25677748 PMID:25741868 PMID:25754248 PMID:25818823 PMID:25849334 PMID:25856402 PMID:25976460 PMID:26029792 PMID:26041423 PMID:26044735 PMID:26076395 PMID:26084319 PMID:26097845 PMID:26193974 PMID:26275168 PMID:26290351 PMID:26291967 PMID:26351951 PMID:26372199 PMID:26436569 PMID:26467025 PMID:26544676 PMID:26554253 PMID:26554862 PMID:26594346 PMID:26635043 PMID:26715484 PMID:26877226 PMID:26901597 PMID:26956563 PMID:27117572 PMID:27251090 PMID:27263053 PMID:27427187 PMID:27521862 PMID:27670359 PMID:27690257 PMID:27718361 PMID:27821015 PMID:27828729 PMID:27829298 PMID:28356267 PMID:28366028 PMID:28379995 PMID:28385923 PMID:28391758 PMID:28492532 PMID:28635337 PMID:28670940 PMID:28865746 PMID:29157184 PMID:29255069 PMID:29484903 PMID:29695942 PMID:30311386 PMID:30604644 PMID:31553106 PMID:31714438 PMID:32581362 PMID:32860008, PMID:6304979 RGD:1600892 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Hbe1 hemoglobin subunit epsilon 1 treatment ISO DNA:SNP: :rs7130110 (human) RGD PMID:12124399, PMID:23409025 RGD:11353858, RGD:11353860 NCBI chr 1:169,003,904...169,005,184
Ensembl chr 1:169,003,788...169,005,190
JBrowse link
G Hk1 hexokinase 1 ISO protein:alternative form:erythrocyte RGD PMID:5686464 RGD:11353884 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO
IMP
RGD PMID:11238038, PMID:20306336 RGD:10755563, RGD:10755565 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:24281564 RGD:11046271 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:25843670 RGD:11354938 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Mdm2 MDM2 proto-oncogene ISO RGD PMID:21085184 RGD:10412315 NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity
no_association
ISO DNA:SNP: :677C>T (human)
DNA:SNP: :1298A>C (human)
RGD PMID:22924497, PMID:20113291, PMID:22924497 RGD:10449403, RGD:10449420, RGD:10449403 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nos3 nitric oxide synthase 3 severity ISO DNA:polymorphisms,haplotype:intron,cds:894G>T, -786T>C(human) RGD PMID:24088668 RGD:11533647 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nppb natriuretic peptide B severity ISO CTD Direct Evidence: marker/mechanism CTD PMID:20408845, PMID:21689089 RGD:5685653 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 severity ISO protein:increased expression:serum (human) RGD PMID:20306667 RGD:11541101 NCBI chr10:94,850,971...94,913,202 JBrowse link
G Pgf placental growth factor ISO protein:increased expression:plasma RGD PMID:20040765 RGD:6483588 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity: serum (human) RGD PMID:24508012 RGD:11553835 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism, haplotype RGD PMID:19254255 RGD:11041761 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Selp selectin P ISO RGD PMID:21071696 RGD:6219007 NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISS OMIM:603903 MouseDO NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:plasma: RGD PMID:26928604 RGD:11062147 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:14965870, PMID:8140855 RGD:10449460 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:70,034,181...70,044,590
Ensembl chr11:70,034,139...70,044,628
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16916123 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
acute chest syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO associated with sickle cell anemia; RGD PMID:23590899 RGD:10450838 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:23590899 RGD:10450838 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hbb hemoglobin subunit beta ISO DNA:SNPs, haplotypes RGD PMID:23952145 RGD:10449047 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Hmox1 heme oxygenase 1 ISO associated with Anemia, Sickle Cell;DNA:repeat:promoter RGD PMID:22966170 RGD:10755560 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeats:intron:
associated with Anemia, Sickle Cell;DNA:polymorphism: :-786T>C(human)
RGD PMID:25263931, PMID:14687036 RGD:11533931, RGD:11533934 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human)
associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human)
RGD PMID:25130874, PMID:22925497 RGD:11075233, RGD:11075235 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
Sickle Cell Retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinf1 serpin family F member 1 ISO protein:increased expression:retinal blood vessels (human) RGD PMID:12957143 RGD:8554869 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
Sickle Cell Trait term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN D (IBADAN) ClinVar PMID:12144055 PMID:14311973 PMID:19429541 PMID:26467025 PMID:26635043 PMID:27207683 PMID:27521855 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Hp haptoglobin ISO RGD PMID:21595649, PMID:19023114 RGD:5147416, RGD:5147440 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
Vaso-occlusive Crisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase mu 1 severity ISO associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:24840051 RGD:10450860 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:23590899 RGD:10450838 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO associated with Anemia, Sickle Cell;DNA:promoter,exon: RGD PMID:20172753 RGD:11530044 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeats:intron: RGD PMID:25263931 RGD:11533931 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO RGD PMID:23643401 RGD:11100023 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      hematopoietic system disease 1655
        blood protein disease 289
          sickle cell anemia 43
            Hemoglobin SC Disease 0
            Sickle Cell Retinopathy 1
            Sickle Cell Trait 2
            Vaso-occlusive Crisis 5
            acute chest syndrome 6
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      Hemic and Lymphatic Diseases 2069
        hematopoietic system disease 1655
          anemia 418
            normocytic anemia 183
              hemolytic anemia 183
                congenital hemolytic anemia 139
                  hemoglobinopathy 105
                    sickle cell anemia 43
                      Hemoglobin SC Disease 0
                      Sickle Cell Retinopathy 1
                      Sickle Cell Trait 2
                      Vaso-occlusive Crisis 5
                      acute chest syndrome 6
paths to the root