Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 16023
    disease of anatomical entity 15278
      hematopoietic system disease 1653
        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 16023
    disease of anatomical entity 15278
      Hemic and Lymphatic Diseases 2067
        hematopoietic system disease 1653
          anemia 417
            normocytic anemia 182
              hemolytic anemia 182
                congenital hemolytic anemia 138
                  hemoglobinopathy 104
                    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

NHLBI Logo

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