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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:hemolytic anemia
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Accession:DOID:583 term browser browse the term
Definition:A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).
Synonyms:exact_synonym: acquired hemolytic anemia;   microangiopathic anemia;   microangiopathic hemolytic anemia
 related_synonym: DIEGO BLOOD GROUP ANTIGEN;   HEMOGLOBIN GENOVA;   HEMOGLOBIN HYOGO;   HEMOGLOBIN ISEHARA;   HEMOGLOBIN REDONDO;   HEMOGLOBIN SABINE;   HEMOGLOBIN ZURICH;   Hemoglobin Bucuresti;   Hemoglobin Louisville;   Hemoglobin Nijkerk
 primary_id: MESH:D000743
 xref: ICD10CM:D55-D59;   NCI:C34376
For additional species annotation, visit the Alliance of Genome Resources.



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hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2M alpha-2-macroglobulin ISO RGD PMID:11952820 RGD:704364 NCBI chr 5:62,406,928...62,483,690
Ensembl chr 5:62,438,017...62,485,537
JBrowse link
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO RGD PMID:3136561 RGD:11100010 NCBI chr 1:272,912,239...272,935,316 JBrowse link
G AK1 adenylate kinase 1 ISO RGD PMID:10233365 RGD:1300279 NCBI chr 1:268,355,032...268,365,659
Ensembl chr 1:268,355,032...268,365,598
JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 ISO mRNA:increased expression:liver (rat) RGD PMID:17082564 RGD:1599038 NCBI chr  X:47,871,519...47,896,041
Ensembl chr  X:47,871,521...47,896,003
JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:23225343 NCBI chr11:76,858,332...76,997,409 JBrowse link
G EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25411909 NCBI chr 3:5,075,026...5,113,390
Ensembl chr 3:5,075,037...5,113,622
JBrowse link
G EPB41 erythrocyte membrane protein band 4.1 ISO RGD PMID:9927493 RGD:11252099 NCBI chr 6:85,842,538...86,029,522
Ensembl chr 6:85,842,605...86,029,522
JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:10733367 PMID:16629641 PMID:20446436 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic anemia
CTD
ClinVar
PMID:2502894 PMID:4794122 PMID:8562390 PMID:25741868 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,025,257...125,041,033
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds: 473C>T (p.158L)(human)
CTD
RGD
PMID:10515893 PMID:10733484 RGD:11049537 NCBI chr 7:27,209,565...27,253,535
Ensembl chr 7:27,209,564...27,253,535
JBrowse link
G GPI glucose-6-phosphate isomerase ISO DNA:polymorphism:cds:p.G368R(human)
ClinVar Annotator: match by term: Hemolytic anemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:8822954 PMID:22930244 PMID:32581362 RGD:11051847 NCBI chr 6:44,038,374...44,069,331
Ensembl chr 6:43,933,759...44,069,330
JBrowse link
G GSR glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:13931269 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,989
JBrowse link
G HMOX1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9884342
G HP haptoglobin ISO associated with Malaria RGD PMID:16637741 RGD:11041791 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G ITPA inosine triphosphatase treatment ISO CTD Direct Evidence: therapeutic
associated with Hepatitis C;DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human)
associated with Hepatitis C, Chronic;DNA:SNPs: :rs1127354, rs6051702, rs7270101 (human)
CTD
RGD
PMID:20547162 PMID:21274861 PMID:23933495 RGD:10766472 RGD:10766479 NCBI chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,786
JBrowse link
G PGK1 phosphoglycerate kinase 1 ISO RGD PMID:16740138 RGD:1599123 NCBI chr  X:62,187,472...62,210,321
Ensembl chr  X:62,187,431...62,212,244
JBrowse link
G PKLR pyruvate kinase L/R ISO ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:32581362 NCBI chr 4:94,536,978...94,546,561
Ensembl chr 4:94,536,954...94,547,591
JBrowse link
G RHAG Rh associated glycoprotein ISO Rh(null) syndrome, OMIM:180297 RGD PMID:10467273 RGD:1599622 NCBI chr 7:43,704,152...43,730,944
Ensembl chr 7:43,703,930...43,730,066
JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic anemia
CTD
ClinVar
PMID:893429 PMID:1419785 PMID:1520883 PMID:1678289 PMID:1696010 More... NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,805...18,974,216
JBrowse link
G SOD2 superoxide dismutase 2 ISO RGD PMID:11304553 RGD:11035277 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:25741868 PMID:32581362 NCBI chr 4:91,573,470...91,640,057
Ensembl chr 4:91,485,067...91,640,063
JBrowse link
G SPTB spectrin beta, erythrocytic ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic anemia
CTD
ClinVar
PMID:9005995 PMID:25741868 NCBI chr 7:88,812,717...88,954,471
Ensembl chr 7:88,812,715...88,954,306
JBrowse link
G TPI1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2876430 NCBI chr 5:63,839,473...63,842,853
Ensembl chr 5:63,837,506...63,843,137
JBrowse link
acute chest syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMOX1 heme oxygenase 1 ISO associated with Anemia, Sickle Cell;DNA:repeat:promoter RGD PMID:22966170 RGD:10755560
G NOS3 nitric oxide synthase 3 susceptibility ISO associated with Anemia, Sickle Cell;DNA:polymorphism: :-786T>C(human)
associated with Anemia, Sickle Cell;DNA:repeats:intron:
RGD PMID:14687036 PMID:25263931 RGD:11533931 RGD:11533934 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G VEGFA vascular endothelial growth factor A susceptibility ISO associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human)
associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human)
RGD PMID:22925497 PMID:25130874 RGD:11075233 RGD:11075235 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
alpha thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPX1 glutathione peroxidase 1 ISO RGD PMID:24577940 RGD:11352811 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,914,932...31,917,335
JBrowse link
G HBB hemoglobin, beta ISO ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:1347969 PMID:1693293 PMID:2442092 PMID:4625560 PMID:5660684 More... NCBI chr 9:4,800,683...4,801,941
Ensembl chr 9:4,621,187...4,809,453
JBrowse link
G HBM hemoglobin subunit mu ISO ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:2986746 PMID:3191033 PMID:6158051 PMID:10602170 PMID:11017952 More... NCBI chr 3:41,489,312...41,490,110
Ensembl chr 3:41,489,315...41,538,652
JBrowse link
G HBQ1 hemoglobin subunit theta 1 ISO ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:538560 PMID:1553958 PMID:2318293 PMID:3191033 PMID:7910813 More... NCBI chr 3:41,478,282...41,480,152
Ensembl chr 3:41,478,246...41,480,119
JBrowse link
G HBZ hemoglobin subunit zeta ISO ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:2566576 PMID:2986746 PMID:3191033 PMID:8460633 PMID:9099846 More... NCBI chr 3:41,490,758...41,492,883
Ensembl chr 3:41,490,823...41,563,020
JBrowse link
G HP haptoglobin ISO RGD PMID:16760505 RGD:11041792 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G LOC110259958 hemoglobin subunit alpha ISO OMIM NCBI chr 3:41,482,353...41,483,564 JBrowse link
alpha thalassemia-X-linked intellectual disability syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATR ATR serine/threonine kinase ISO ClinVar Annotator: match by term: ATR-X-related syndrome ClinVar PMID:25741868 NCBI chr13:83,175,515...83,289,986
Ensembl chr13:83,174,824...83,289,923
JBrowse link
G ATRX ATRX chromatin remodeler ISO OMIM NCBI chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,288
JBrowse link
Alpha-Thalassemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110259958 hemoglobin subunit alpha ISO ClinVar Annotator: match by term: Alpha-plus-thalassemia ClinVar PMID:11791872 NCBI chr 3:41,482,353...41,483,564 JBrowse link
alpha-thalassemia myelodysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler ISO OMIM NCBI chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,288
JBrowse link
Alpha-Thalassemia-2, Nondeletional term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110259958 hemoglobin subunit alpha ISO ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional ClinVar PMID:8237999 PMID:9029003 PMID:10569720 PMID:19636270 PMID:20147853 More... NCBI chr 3:41,482,353...41,483,564 JBrowse link
AMME complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A6 collagen type IV alpha 6 chain ISO OMIM NCBI chr  X:88,634,925...88,750,938
Ensembl chr  X:88,634,925...88,957,402
JBrowse link
atypical hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO protein:decreased activity:serum (human)
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
RGD
ClinVar
PMID:12640381 PMID:12753286 PMID:17187257 PMID:17627784 PMID:23715102 More... RGD:10449096 NCBI chr 1:273,022,014...273,066,916
Ensembl chr 1:273,022,000...273,056,039
JBrowse link
G BAAT bile acid-CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chr 1:243,065,668...243,084,816
Ensembl chr 1:243,065,795...243,084,287
JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More... NCBI chr 7:24,020,590...24,034,042
Ensembl chr 7:23,995,982...24,034,040
JBrowse link
G C3 complement C3 susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
RGD
CTD
PMID:1976733 PMID:14639503 PMID:17517971 PMID:17634448 PMID:18325906 More... RGD:11040768 RGD:7364995 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,499...72,528,112
JBrowse link
G C3AR1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chr 5:63,088,778...63,098,750 JBrowse link
G CD46 CD46 molecule, complement regulatory protein susceptibility
severity
ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human)
DNA:missense mutations:cds:p.R69W, p.A304V (human)
protein:increased expression:peripheral blood mononuclear cell (human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:multiple (human)
OMIM
ClinVar
RGD
CTD
PMID:270646 PMID:3480783 PMID:9551389 PMID:10528197 PMID:14566051 More... RGD:11038684 RGD:11040768 RGD:11352768 RGD:11352810 NCBI chr 9:135,025,439...135,078,910 JBrowse link
G CFB complement factor B susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human)
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations: :multiple
OMIM
ClinVar
RGD
CTD
PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 PMID:16518403 More... RGD:11040768 RGD:7242707 NCBI chr 7:24,034,077...24,040,523 JBrowse link
G CFH complement factor H susceptibility ISO
IAGP
Membranoproliferative glomerulonephritis type II OMIM
OMIA
PMID:7883953 PMID:8238252 PMID:8323737 PMID:8533215 PMID:9141221 More...
G CFI complement factor I susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
RGD
CTD
PMID:15173250 PMID:16621965 PMID:18557729 PMID:18825487 PMID:19877009 More... RGD:6906889 NCBI chr 8:112,430,824...112,470,844 JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 More... NCBI chr  X:88,958,837...89,183,306
Ensembl chr  X:88,958,825...89,183,374
JBrowse link
G DGKE diacylglycerol kinase epsilon ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7
ClinVar Annotator: match by term: atypical hemolytic-uremic syndrome
CTD
ClinVar
PMID:23542698 PMID:24511134 PMID:24747643 PMID:25741868 PMID:29590070 NCBI chr12:33,141,439...33,172,412
Ensembl chr12:33,141,505...33,172,407
JBrowse link
G MMACHC metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar PMID:16311595 PMID:16714133 PMID:17768669 PMID:17853453 PMID:18164228 More... NCBI chr 6:165,860,888...165,865,674
Ensembl chr 6:165,860,785...165,865,654
JBrowse link
G PLG plasminogen ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar NCBI chr 1:7,062,399...7,109,521
Ensembl chr 1:7,061,191...7,110,555
JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar PMID:28492532 PMID:28844315 NCBI chr15:118,627,734...118,688,005
Ensembl chr15:118,629,238...118,687,940
JBrowse link
G THBD thrombomodulin susceptibility
no_association
severity
ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
DNA:SNPs:5' utr, 3' utr:multiple
DNA:missense mutations:CDS:multiple
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
RGD
CTD
PMID:7811989 PMID:9157575 PMID:9236408 PMID:10460600 PMID:11245641 More... RGD:11038684 RGD:11038691 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,221,819...30,230,177
JBrowse link
autoimmune hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:polymorphism:exon:49G>A(p.T17A)(human) RGD PMID:12555221 RGD:11352242 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,926...107,289,103
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:12093879 RGD:11049457 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G SLC14A1 solute carrier family 14 member 1 (Kidd blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:6427987 NCBI chr 1:95,354,848...95,381,492
Ensembl chr 1:95,354,805...95,381,492
JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO RGD PMID:8325343 RGD:10450476 NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,805...18,974,216
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Autoimmune hemolytic anemia ClinVar PMID:32853638 PMID:33087723 NCBI chr 3:31,879,143...31,883,041
Ensembl chr 3:31,881,225...31,884,969
JBrowse link
beta thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 ISO mRNA, protein:decreased expression:liver RGD PMID:21281810 RGD:11038787 NCBI chr 3:28,260,935...28,356,706 JBrowse link
G APOB apolipoprotein B ISO protein:decreased expression:plasma (human) RGD PMID:9180253 RGD:11354944 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
G APOE apolipoprotein E ISO RGD PMID:22705320 RGD:11039491 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
G BCL11A BAF chromatin remodeling complex subunit BCL11A severity
treatment
ISO DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human)
DNA:snps:intron:c. 386-24002G>T, c.386-24278G>A (rs766432, rs11886868) (human)
DNA:snp:intron:c.386-17267T>C (rs10189857) (human)
RGD PMID:22258351 PMID:23541515 PMID:25574177 PMID:25751242 RGD:11099969 RGD:11100005 RGD:11100008 RGD:11100011 NCBI chr 3:81,195,217...81,296,165
Ensembl chr 3:81,196,294...81,296,165
JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H ISO CTD Direct Evidence: marker/mechanism CTD PMID:31542421 NCBI chr 3:40,637,420...40,694,616
Ensembl chr 3:40,637,436...40,694,818
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,495
JBrowse link
G CFB complement factor B ISO protein:decreased expression:serum RGD PMID:6914868 RGD:11041572 NCBI chr 7:24,034,077...24,040,523 JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO DNA:SNP RGD PMID:12803121 RGD:11041179 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:14,942,898...14,956,000
Ensembl chr 6:14,942,933...14,956,000
JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:16225658 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G GATA1 GATA binding protein 1 treatment ISO RGD PMID:16696909 RGD:10450613 NCBI chr  X:42,898,431...42,905,939
Ensembl chr  X:42,898,442...42,905,976
JBrowse link
G GSR glutathione-disulfide reductase ISO protein:decreased activity:erythrocyte: RGD PMID:20126808 RGD:11052141 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,989
JBrowse link
G HAMP hepcidin antimicrobial peptide treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16755567 PMID:17299088 PMID:23905873 RGD:11041616 RGD:11041617 NCBI chr 6:44,785,863...44,787,303
Ensembl chr 6:44,784,159...44,787,307
JBrowse link
G HBS1L HBS1 like translational GTPase ISO DNA:SNP:exon:32C>T (human) RGD PMID:18839276 RGD:11353877 NCBI chr 1:28,968,778...29,052,427
Ensembl chr 1:28,968,827...29,052,429
JBrowse link
G HFE homeostatic iron regulator no_association ISO DNA:missense mutations: :p.H63D, p.S65C (human)
DNA:missense mutation: :p.C282Y (human)
RGD PMID:14703689 PMID:17160266 RGD:10755489 RGD:10755537 NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,768,741
JBrowse link
G HP haptoglobin ISO RGD PMID:22885163 RGD:11041795 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum: RGD PMID:9666877 RGD:12743604 NCBI chr18:50,002,921...50,009,425 JBrowse link
G IL1A interleukin 1 alpha ISO mRNA:decreased expression:blood, mononuclear cell RGD PMID:21576933 RGD:11051969 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:plasma RGD PMID:23905873 RGD:11041617 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G LCN2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16755567 NCBI chr 1:268,609,975...268,614,651 JBrowse link
G LOC110259958 hemoglobin subunit alpha ISO ClinVar Annotator: match by term: HEMOGLOBIN Q (INDIA) ClinVar PMID:949043 PMID:4646552 PMID:7803274 PMID:21045395 PMID:25354131 More... NCBI chr 3:41,482,353...41,483,564 JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:26608512 RGD:11552583 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,724
JBrowse link
G TERT telomerase reverse transcriptase ISO mRNA:increased expression:bone marrow RGD PMID:18466174 RGD:11038664 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
JBrowse link
G TFR2 transferrin receptor 2 ISO mRNA:decreased expression:liver:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16755567 RGD:11062138 NCBI chr 3:8,539,316...8,553,993
Ensembl chr 3:8,539,318...8,578,884
JBrowse link
G TFRC transferrin receptor ISO mRNA:increased expression:liver:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16755567 RGD:11062138 NCBI chr13:133,976,765...133,997,554
Ensembl chr13:133,970,594...134,000,278
JBrowse link
G TNF tumor necrosis factor ISO DNA:polymorphisms:3' utr RGD PMID:19103526 RGD:10449458 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G UMPS uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr13:135,611,857...135,650,656
Ensembl chr13:135,610,058...135,650,604
JBrowse link
beta-thalassemia major term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PON1 paraoxonase 1 ISO protein:decreased activity:plasma (human) RGD PMID:17617032 RGD:11553831 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,724
JBrowse link
CD59 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD59 CD59 molecule ISO OMIM NCBI chr 2:27,186,587...27,207,303 JBrowse link
congenital dyserythropoietic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDAN1 codanin 1 ISO DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital dyserythropoietic anemia
RGD
CTD
ClinVar
PMID:16098079 RGD:11081155 NCBI chr 1:128,641,411...128,655,556
Ensembl chr 1:128,641,430...128,655,554
JBrowse link
G CDIN1 CDAN1 interacting nuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:134,301,076...134,538,874
Ensembl chr 1:134,301,079...134,538,463
JBrowse link
G KLF1 Kruppel like factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:66,144,767...66,148,500
Ensembl chr 2:66,144,777...66,148,517
JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital dyserythropoietic anemia
CTD
ClinVar
PMID:19561605 PMID:24033266 PMID:25741868 NCBI chr17:26,760,048...26,801,091
Ensembl chr17:26,760,046...26,801,155
JBrowse link
G VPS4A vacuolar protein sorting 4 homolog A ISO ClinVar Annotator: match by term: Syndromic congenital hemolytic and dyserythropoietic anemia ClinVar PMID:25741868 PMID:33186543 PMID:33186545 PMID:33460484 NCBI chr 6:17,657,792...17,669,560 JBrowse link
congenital dyserythropoietic anemia type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDAN1 codanin 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type I ClinVar PMID:12434312 PMID:12825070 PMID:16098079 PMID:16141353 PMID:16754775 More... NCBI chr 1:128,641,411...128,655,556
Ensembl chr 1:128,641,430...128,655,554
JBrowse link
congenital dyserythropoietic anemia type Ia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDAN1 codanin 1 ISO OMIM NCBI chr 1:128,641,411...128,655,556
Ensembl chr 1:128,641,430...128,655,554
JBrowse link
congenital dyserythropoietic anemia type Ib term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDIN1 CDAN1 interacting nuclease 1 ISO OMIM NCBI chr 1:134,301,076...134,538,874
Ensembl chr 1:134,301,079...134,538,463
JBrowse link
congenital dyserythropoietic anemia type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SEC23B SEC23 homolog B, COPII coat complex component ISO OMIM NCBI chr17:26,760,048...26,801,091
Ensembl chr17:26,760,046...26,801,155
JBrowse link
congenital dyserythropoietic anemia type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLF1 Kruppel like factor 1 ISO OMIM NCBI chr 2:66,144,767...66,148,500
Ensembl chr 2:66,144,777...66,148,517
JBrowse link
congenital hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 3:96,596,975...96,616,224
Ensembl chr 3:96,594,778...96,616,229
JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,499...72,528,112
JBrowse link
G CD46 CD46 molecule, complement regulatory protein ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 9:135,025,439...135,078,910 JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,025,257...125,041,033
JBrowse link
G GPI glucose-6-phosphate isomerase ISO Severe GPI deficiency with neurologic deficits DNA:point_mutations:CDS:compound heterozygote for 59A>C (amino acid H20P), and 1016T>C (amino acid L339P)
DNA:point_mutations:CDS:compound heterozygote for amino acids G158S and R346H
RGD PMID:8499925 PMID:9856489 RGD:1600631 RGD:1600632 NCBI chr 6:44,038,374...44,069,331
Ensembl chr 6:43,933,759...44,069,330
JBrowse link
G GSR glutathione-disulfide reductase ISO protein:reduced_expression:erythrocytes,leukocytes:hemolysis triggered by consumption of fava beans RGD PMID:947404 RGD:1600697 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,989
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 6:914,480...967,113
Ensembl chr 6:915,365...967,106
JBrowse link
G PLEKHG3 pleckstrin homology and RhoGEF domain containing G3 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 7:88,764,476...88,810,996
Ensembl chr 7:88,764,471...88,810,994
JBrowse link
G RHCE Rh blood group CcEe antigens ISO CTD Direct Evidence: marker/mechanism CTD PMID:9657769 NCBI chr 6:82,880,585...82,925,238
Ensembl chr 6:82,880,584...82,925,305
JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO DNA:missense mutations:cds:multiple (human) RGD PMID:8841202 PMID:16227998 RGD:10450505 RGD:10450509 NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,805...18,974,216
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 PMID:26002053 NCBI chr 4:91,573,470...91,640,057
Ensembl chr 4:91,485,067...91,640,063
JBrowse link
G SPTB spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 7:88,812,717...88,954,471
Ensembl chr 7:88,812,715...88,954,306
JBrowse link
Congenital Methemoglobinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYB5A cytochrome b5 type A ISO protein:decreased activity:erythrocyte membrane:
DNA:missense, nonsense mutations:splice junction,cds:multiple
RGD PMID:7451647 PMID:18343696 RGD:11352693 RGD:11352695 NCBI chr 1:149,737,584...149,773,222
Ensembl chr 1:149,737,571...149,783,623
JBrowse link
congenital nonspherocytic hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK1 adenylate kinase 1 ISO DNA:missense, deletion mutations:cds: RGD PMID:17662886 RGD:11100022 NCBI chr 1:268,355,032...268,365,659
Ensembl chr 1:268,355,032...268,365,598
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism
DNA:point mutations:exon:637G>T, 1178G>A, 1089C>A (human)
DNA:point mutations: :1376G>T, 1502T>G (human)
CTD
RGD
PMID:1999409 PMID:4125296 PMID:10666231 PMID:24923766 RGD:10449107 RGD:1599812 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,025,257...125,041,033
JBrowse link
G GPI glucose-6-phosphate isomerase ISO DNA:point_mutation:CDS:1648A>G amino acid K550E
DNA:mutations:cds:
RGD PMID:8417789 PMID:9446754 PMID:17041899 RGD:11051849 RGD:11051955 RGD:1600633 NCBI chr 6:44,038,374...44,069,331
Ensembl chr 6:43,933,759...44,069,330
JBrowse link
G HK1 hexokinase 1 ISO DNA:deletion, missense mutation:CDS:577_672del, 1677T>C (p.L529S) (human)
DNA, protein:insertion, decreased activity:intron, kidney, spleen, erythrocyte
RGD PMID:7655856 PMID:11783948 RGD:11353878 RGD:1601519 NCBI chr14:72,383,328...72,460,927
Ensembl chr14:72,351,149...72,460,925
JBrowse link
G NT5C3A 5'-nucleotidase, cytosolic IIIA ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672222 NCBI chr18:40,440,890...40,483,043
Ensembl chr18:40,441,102...40,483,376
JBrowse link
G PKLR pyruvate kinase L/R ISO DNA:missense mutations:cds:p.A468V, p.I314T (human)
DNA:missense mutation:cds:p.R479H (human)
DNA:missense mutations:cds:p.T384M, p.Q421K (human)
DNA:snp:promoter:g.-72A>G (human)
RGD PMID:1536957 PMID:7949104 PMID:8161798 PMID:11054094 RGD:11535979 RGD:11535981 RGD:11535983 RGD:11535987 NCBI chr 4:94,536,978...94,546,561
Ensembl chr 4:94,536,954...94,547,591
JBrowse link
G TPI1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8503454 NCBI chr 5:63,839,473...63,842,853
Ensembl chr 5:63,837,506...63,843,137
JBrowse link
dehydrated hereditary stomatocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNN4 potassium calcium-activated channel subfamily N member 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:50,580,016...50,593,518
Ensembl chr 6:50,580,022...50,593,544
JBrowse link
dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNN4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema ClinVar PMID:25741868 NCBI chr 6:50,580,016...50,593,518
Ensembl chr 6:50,580,022...50,593,544
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO OMIM NCBI chr 6:914,480...967,113
Ensembl chr 6:915,365...967,106
JBrowse link
dehydrated hereditary stomatocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNN4 potassium calcium-activated channel subfamily N member 4 ISO OMIM NCBI chr 6:50,580,016...50,593,518
Ensembl chr 6:50,580,022...50,593,544
JBrowse link
delta beta-thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HBB hemoglobin, beta ISO ClinVar Annotator: match by term: Fetal hemoglobin quantitative trait locus 1
ClinVar Annotator: match by term: Delta-plus-thalassemia
ClinVar PMID:1398286 PMID:1742490 PMID:3401592 PMID:11939506 PMID:12402333 More... NCBI chr 9:4,800,683...4,801,941
Ensembl chr 9:4,621,187...4,809,453
JBrowse link
Delta-Thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HBB hemoglobin, beta ISO ClinVar Annotator: match by term: delta Thalassemia
ClinVar Annotator: match by term: Delta-thalassemia
ClinVar Annotator: match by term: Delta-zero-thalassemia, knossos type
ClinVar Annotator: match by term: Delta-0-thalassemia
ClinVar PMID:1301204 PMID:1309671 PMID:1398286 PMID:1515647 PMID:1742490 More... NCBI chr 9:4,800,683...4,801,941
Ensembl chr 9:4,621,187...4,809,453
JBrowse link
Diarrhea prodrome + Hemolytic-Uremic Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GP1BA glycoprotein Ib platelet subunit alpha ISO associated with Escherichia Coli Infections;DNA:SNP:exon: (rs121908064) (human) RGD PMID:29216383 RGD:42722620 NCBI chr12:51,975,810...51,979,428
Ensembl chr12:51,975,874...51,977,757
JBrowse link
Distal Renal Tubular Acidosis 4 with Hemolytic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC4A1 solute carrier family 4 member 1 ISO OMIM NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,805...18,974,216
JBrowse link
G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, with hemolytic anemia ClinVar PMID:30028003 NCBI chr 1:117,946,022...118,161,827
Ensembl chr 1:117,946,040...118,160,256
JBrowse link
Elliptocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPB41 erythrocyte membrane protein band 4.1 ISO OMIM NCBI chr 6:85,842,538...86,029,522
Ensembl chr 6:85,842,605...86,029,522
JBrowse link
Elliptocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100154445 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Elliptocytosis 2 ClinVar NCBI chr 4:91,643,676...91,644,614
Ensembl chr 4:91,643,676...91,644,614
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO OMIM NCBI chr 4:91,573,470...91,640,057
Ensembl chr 4:91,485,067...91,640,063
JBrowse link
Elliptocytosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTB spectrin beta, erythrocytic ISO OMIM NCBI chr 7:88,812,717...88,954,471
Ensembl chr 7:88,812,715...88,954,306
JBrowse link
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPP2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:9536098 PMID:17576681 PMID:25414442 PMID:25640679 PMID:28492532 More... NCBI chr11:70,943,142...71,009,381
Ensembl chr11:70,943,139...71,009,633
JBrowse link
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COX4I2 cytochrome c oxidase subunit 4I2 ISO OMIM NCBI chr17:35,340,499...35,346,090
Ensembl chr17:35,341,876...35,346,007
JBrowse link
favism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASK calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:37,166,973...37,535,723
Ensembl chr  X:37,167,577...37,536,160
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO OMIM NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,025,257...125,041,033
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency
ClinVar Annotator: match by term: Favism, susceptibility to
ClinVar PMID:8471773 PMID:10502785 PMID:11601226 PMID:16329560 PMID:28492532 More... NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453
JBrowse link
glucosephosphate dehydrogenase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6PD glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glucose 6 phosphate dehydrogenase deficiency
ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency
ClinVar Annotator: match by term: G6PD WALTER REED
CTD
ClinVar
PMID:5448 PMID:16832 PMID:472761 PMID:848857 PMID:1303173 More... NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,025,257...125,041,033
JBrowse link
G IFNG interferon gamma ISO DNA:SNP: :874A>T (human) RGD PMID:15718915 RGD:11049178 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Glucose 6 phosphate dehydrogenase deficiency
ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency
ClinVar PMID:8471773 PMID:10502785 PMID:11601226 PMID:16329560 PMID:28492532 More... NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453
JBrowse link
G IL10 interleukin 10 no_association ISO DNA:SNPs:promoter:-1082G>A, -819T>C (human)
DNA:SNP:promoter:-592A>C (human)
RGD PMID:15718915 RGD:11049178 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL6 interleukin 6 ISO DNA:SNP:promoter:-174G>C (human) RGD PMID:15718915 RGD:11049178 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO protein:increased phosphorylation:erythrocyte (human) RGD PMID:21246053 RGD:10450516 NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,805...18,974,216
JBrowse link
glutamate-cysteine ligase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCLC glutamate-cysteine ligase catalytic subunit ISO OMIM NCBI chr 7:27,209,565...27,253,535
Ensembl chr 7:27,209,564...27,253,535
JBrowse link
Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPX1 glutathione peroxidase 1 ISO OMIM NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,914,932...31,917,335
JBrowse link
Glyoxalase II Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HAGH hydroxyacylglutathione hydrolase ISO OMIM NCBI chr 3:40,139,099...40,162,921 JBrowse link
Greenberg dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBR lamin B receptor ISO OMIM NCBI chr10:13,389,896...13,416,831
Ensembl chr10:13,386,946...13,416,759
JBrowse link
Heinz body anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSR glutathione-disulfide reductase treatment ISO RGD PMID:20692194 RGD:11059501 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,989
JBrowse link
G LOC110259958 hemoglobin subunit alpha ISO OMIM NCBI chr 3:41,482,353...41,483,564 JBrowse link
Heme Oxygenase 1 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMOX1 heme oxygenase 1 ISO OMIM
hemoglobin H disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110259958 hemoglobin subunit alpha ISO OMIM NCBI chr 3:41,482,353...41,483,564 JBrowse link
hemoglobinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HBB hemoglobin, beta ISO ClinVar Annotator: match by term: Hemoglobinopathy ClinVar PMID:7510147 PMID:15315794 PMID:23491071 NCBI chr 9:4,800,683...4,801,941
Ensembl chr 9:4,621,187...4,809,453
JBrowse link
G LOC110259958 hemoglobin subunit alpha ISO ClinVar Annotator: match by term: HEMOGLOBIN AGHIA SOPHIA
ClinVar Annotator: match by term: HEMOGLOBIN HOPKINS 2
ClinVar Annotator: match by term: HEMOGLOBIN ADANA
ClinVar Annotator: match by term: HEMOGLOBIN OLIVIERE
ClinVar Annotator: match by term: HEMOGLOBIN BUFFALO
ClinVar Annotator: match by term: HEMOGLOBIN J (BROUSSAIS)
ClinVar PMID:646867 PMID:740406 PMID:943846 PMID:4503918 PMID:4503919 More... NCBI chr 3:41,482,353...41,483,564 JBrowse link
Hemolytic Anemia due to Adenylate Kinase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK1 adenylate kinase 1 ISO OMIM NCBI chr 1:268,355,032...268,365,659
Ensembl chr 1:268,355,032...268,365,598
JBrowse link
Hemolytic Anemia due to Glutathione Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSR glutathione-disulfide reductase ISO OMIM NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,989
JBrowse link
hemolytic anemia due to glutathione synthetase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSS glutathione synthetase ISO OMIM NCBI chr17:38,316,199...38,342,253
Ensembl chr17:38,312,720...38,342,304
JBrowse link
hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,718,304
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO protein:increased expression:plasma (rat) RGD PMID:10201001 RGD:11528527 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CCL3L1 chemokine (C-C motif) ligand 3-like 1 ISO RGD PMID:17220320 RGD:7241820 NCBI chr12:39,491,999...39,493,345
Ensembl chr12:39,491,885...39,493,370
JBrowse link
G CD36 CD36 molecule ISO RGD PMID:16197457 RGD:6893534 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
JBrowse link
G CD46 CD46 molecule, complement regulatory protein susceptibility ISO DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human)
DNA:frameshift mutation:cds:p.N233X3 (human)
DNA:mutations:multiple (human)
RGD PMID:14566051 PMID:14615110 PMID:16189652 RGD:11352767 RGD:11352770 RGD:11531138 NCBI chr 9:135,025,439...135,078,910 JBrowse link
G CFH complement factor H ISO DNA:mutations, polymorphisms:promoter, exon:multiple RGD PMID:14583443 RGD:11041164
G DGKE diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:25854283 NCBI chr12:33,141,439...33,172,412
Ensembl chr12:33,141,505...33,172,407
JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:12053072 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G F2 coagulation factor II, thrombin ISO associated with diarrhea;protein:increased expression:plasma (human) RGD PMID:9423793 RGD:40818428 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,451...15,819,138
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:15632024 RGD:7242276 NCBI chr 7:98,449,508...98,451,971
Ensembl chr 7:98,449,349...98,455,554
JBrowse link
G HP haptoglobin ISO RGD PMID:6218601 RGD:1626361 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G IL1RL1 interleukin 1 receptor like 1 severity ISO associated with Escherichia Coli Infections; RGD PMID:30467800 RGD:39458200 NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,803,165...51,951,383
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:increased concentration:serum (human) RGD PMID:9802632 PMID:12373296 RGD:6909134 RGD:6909171
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034
G MBL2 mannose binding lectin 2 treatment ISO RGD PMID:27378476 RGD:11530050 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,894...97,108,936
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12588957 NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,769...17,302,590
JBrowse link
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 7:41,488,152...41,531,383
Ensembl chr 7:41,486,843...41,531,331
JBrowse link
G PLAT plasminogen activator, tissue type ISO associated with Escherichia coli Infections;protein:increased expression:plasma (human) RGD PMID:11777999 RGD:11541069 NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032
JBrowse link
G THBD thrombomodulin ISO RGD PMID:22942429 RGD:11038690 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,221,819...30,230,177
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
hereditary elliptocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPB41 erythrocyte membrane protein band 4.1 ISO associated with Myelodysplastic-Myeloproliferative Diseases
ClinVar Annotator: match by term: Hereditary elliptocytosis
RGD
ClinVar
PMID:17994571 RGD:11252097 NCBI chr 6:85,842,538...86,029,522
Ensembl chr 6:85,842,605...86,029,522
JBrowse link
G LOC100154445 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Ovalocytosis
ClinVar Annotator: match by term: Elliptocytosis
ClinVar NCBI chr 4:91,643,676...91,644,614
Ensembl chr 4:91,643,676...91,644,614
JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary
CTD
ClinVar
RGD
PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:6338046 More... RGD:13208947 NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,805...18,974,216
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO DNA:insertion:intron:
ClinVar Annotator: match by term: Elliptocytosis
ClinVar Annotator: match by term: Hereditary elliptocytosis
RGD
ClinVar
PMID:11154235 PMID:28492532 RGD:11059523 NCBI chr 4:91,573,470...91,640,057
Ensembl chr 4:91,485,067...91,640,063
JBrowse link
G SPTB spectrin beta, erythrocytic ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Elliptocytosis
ClinVar Annotator: match by term: Ovalocytosis
ClinVar Annotator: match by term: Hereditary elliptocytosis
CTD
ClinVar
PMID:1975598 PMID:19538529 PMID:25741868 PMID:28492532 NCBI chr 7:88,812,717...88,954,471
Ensembl chr 7:88,812,715...88,954,306
JBrowse link
Hereditary Pyropoikilocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100154445 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Hereditary pyropoikilocytosis ClinVar NCBI chr 4:91,643,676...91,644,614
Ensembl chr 4:91,643,676...91,644,614
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO OMIM NCBI chr 4:91,573,470...91,640,057
Ensembl chr 4:91,485,067...91,640,063
JBrowse link
G SPTB spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Hereditary pyropoikilocytosis ClinVar PMID:25741868 NCBI chr 7:88,812,717...88,954,471
Ensembl chr 7:88,812,715...88,954,306
JBrowse link
hereditary spherocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK1 ankyrin 1 severity ISO DNA:mutation:exon:p.E924X(mouse)
ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:deletion mutation:exon:
DNA:deletion:cds:
DNA:mutation: :
DNA:transversion mutation:splice site:1674G>C(mouse)
DNA:transition mutation:intron:
RGD
ClinVar
PMID:8640229 PMID:9054656 PMID:14671619 PMID:19179303 PMID:21193012 More... RGD:11041609 RGD:11251674 RGD:11251675 RGD:11251676 RGD:11251680 RGD:11251681 RGD:1578350 NCBI chr17:10,752,258...10,985,129
Ensembl chr17:10,763,876...10,985,191
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,495
JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:14,942,898...14,956,000
Ensembl chr 6:14,942,933...14,956,000
JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive RGD
ClinVar
PMID:1558976 RGD:1598910 NCBI chr 1:128,231,863...128,253,696
Ensembl chr 1:128,231,997...128,253,031
JBrowse link
G KLF1 Kruppel like factor 1 ISO DNA:missense mutation:exon:p.E339D (1065A>T) (human) RGD PMID:20691777 RGD:10769342 NCBI chr 2:66,144,767...66,148,500
Ensembl chr 2:66,144,777...66,148,517
JBrowse link
G LOC100154445 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chr 4:91,643,676...91,644,614
Ensembl chr 4:91,643,676...91,644,614
JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO mRNA:splicing error:intron:IVS8+1G>T (human)
ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human)
DNA:duplication:cds: (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G771D (human)
RGD
ClinVar
CTD
PMID:1378323 PMID:8282779 PMID:8547122 PMID:9207478 PMID:9326249 RGD:10450491 RGD:10450506 RGD:10450510 RGD:1599007 NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,805...18,974,216
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO DNA:deletion:cds:
ClinVar Annotator: match by term: Hereditary spherocytosis
ClinVar Annotator: match by term: Spherocytosis, Recessive
DNA:polymorphisms:introns,exon:
RGD
ClinVar
PMID:8941647 PMID:11920196 PMID:15384986 PMID:24033266 PMID:25741868 More... RGD:11059521 RGD:11059522 NCBI chr 4:91,573,470...91,640,057
Ensembl chr 4:91,485,067...91,640,063
JBrowse link
G SPTB spectrin beta, erythrocytic ISO DNA:mutations:cds,splice junction:
ClinVar Annotator: match by term: Spherocytosis, Dominant
ClinVar Annotator: match by term: Hereditary spherocytosis
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:8102379 PMID:19538529 PMID:25741868 PMID:28492532 RGD:11059526 NCBI chr 7:88,812,717...88,954,471
Ensembl chr 7:88,812,715...88,954,306
JBrowse link
G UMPS uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr13:135,611,857...135,650,656
Ensembl chr13:135,610,058...135,650,604
JBrowse link
hereditary spherocytosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK1 ankyrin 1 ISO OMIM NCBI chr17:10,752,258...10,985,129
Ensembl chr17:10,763,876...10,985,191
JBrowse link
hereditary spherocytosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTB spectrin beta, erythrocytic ISO OMIM NCBI chr 7:88,812,717...88,954,471
Ensembl chr 7:88,812,715...88,954,306
JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100154445 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Spherocytosis type 3 ClinVar NCBI chr 4:91,643,676...91,644,614
Ensembl chr 4:91,643,676...91,644,614
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO OMIM NCBI chr 4:91,573,470...91,640,057
Ensembl chr 4:91,485,067...91,640,063
JBrowse link
hereditary spherocytosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC4A1 solute carrier family 4 member 1 ISO OMIM NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,805...18,974,216
JBrowse link
hereditary spherocytosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPB42 erythrocyte membrane protein band 4.2 ISO OMIM NCBI chr 1:128,231,863...128,253,696
Ensembl chr 1:128,231,997...128,253,031
JBrowse link
Hexokinase Deficiency Hemolytic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HK1 hexokinase 1 ISO ClinVar Annotator: match by term: Hexokinase deficiency hemolytic anemia ClinVar PMID:6848140 PMID:7655856 PMID:12393545 PMID:25741868 PMID:28492532 More... NCBI chr14:72,383,328...72,460,927
Ensembl chr14:72,351,149...72,460,925
JBrowse link
Hydrops Fetalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr14:60,412,651...60,415,687 JBrowse link
G ALB albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,718,304
JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,365...84,123,384
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:30690204 NCBI chr 4:90,341,316...90,371,040
Ensembl chr 4:90,291,344...90,396,160
JBrowse link
G C9H1orf105 chromosome 9 C1orf105 homolog ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 9:114,828,414...114,850,267
Ensembl chr 9:114,814,229...114,851,788
JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr 1:161,320,627...161,556,539
Ensembl chr 1:161,321,273...161,556,537
JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr15:80,673,072...80,692,256
Ensembl chr15:80,673,033...80,692,208
JBrowse link
G CTSA cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr17:48,082,480...48,089,971
Ensembl chr17:48,082,458...48,089,971
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 6:157,483,794...157,519,060
Ensembl chr 6:157,483,783...157,579,161
JBrowse link
G DNAH14 dynein axonemal heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr10:13,048,002...13,389,497 JBrowse link
G DNAH9 dynein axonemal heavy chain 9 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr12:56,045,079...56,366,327
Ensembl chr12:56,045,140...56,358,236
JBrowse link
G FOXC2 forkhead box C2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 6:2,552,141...2,555,041
Ensembl chr 6:2,552,862...2,554,367
JBrowse link
G FOXP3 forkhead box P3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11137992 PMID:11295725 PMID:25741868 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,782...43,328,735
JBrowse link
G FZD6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr 4:33,811,159...33,844,556
Ensembl chr 4:33,809,804...33,844,658
JBrowse link
G GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:108,223,315...108,439,602
Ensembl chr 3:108,223,995...108,620,615
JBrowse link
G GUSB glucuronidase beta ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:1702266 PMID:7573038 PMID:7680524 PMID:8644704 PMID:9099834 More... NCBI chr 3:16,672,071...16,686,520
Ensembl chr 3:16,671,420...16,689,231
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: Fetal edema
ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: Hydrops fetalis, non-immune ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:24549645 PMID:25741868 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: Fetal edema
ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr 2:303,836...323,701
Ensembl chr 2:304,429...323,700
JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25303977 PMID:25741868 NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,569,746...50,589,787
JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 PMID:28492532 NCBI chr 6:103,451,206...103,593,093
Ensembl chr 6:103,451,343...103,597,324
JBrowse link
G MYRF myelin regulatory factor ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 2:9,761,230...9,795,873 JBrowse link
G NEB nebulin ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:18330676 PMID:25205138 PMID:26036949 PMID:26841830 PMID:28492532 NCBI chr15:546,187...766,131
Ensembl chr15:546,233...766,131
JBrowse link
G NEU1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr 7:23,953,721...23,958,659
Ensembl chr 7:23,947,061...23,958,666
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 2:80,649,882...80,810,934
Ensembl chr 2:80,654,378...80,809,059
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Hydrops fetalis
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar PMID:25741868 PMID:30244526 PMID:31680349 NCBI chr 6:914,480...967,113
Ensembl chr 6:915,365...967,106
JBrowse link
G PIGC phosphatidylinositol glycan anchor biosynthesis class C ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 9:114,824,795...114,827,731
Ensembl chr 9:114,824,800...114,827,404
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 More... NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,168...39,292,018
JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:23791108 PMID:24469055 PMID:25049390 PMID:25124994 PMID:25741868 More... NCBI chr 4:94,117,721...94,127,882
Ensembl chr 4:94,098,275...94,127,384
JBrowse link
G ROCK2 Rho associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 3:125,353,063...125,493,368
Ensembl chr 3:125,353,119...125,491,963
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:20583297 PMID:21911697 More... NCBI chr 6:47,339,759...47,458,457 JBrowse link
G SFTPA1 surfactant protein A1 ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,107,675
JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30348783 NCBI chr14:121,347,938...121,444,144
Ensembl chr14:121,349,057...121,444,136
JBrowse link
G SLC26A3 solute carrier family 26 member 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:9718329 PMID:21394828 PMID:25741868 PMID:31680349 NCBI chr 9:107,480,629...107,518,771
Ensembl chr 9:107,480,641...107,518,728
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr11:15,668,435...15,698,031
Ensembl chr11:15,667,640...15,697,872
JBrowse link
G UBN1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:37,512,306...37,555,255
Ensembl chr 3:37,512,314...37,555,185
JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARS2 leucyl-tRNA synthetase 2, mitochondrial ISO OMIM NCBI chr13:28,524,778...28,692,327
Ensembl chr13:28,524,813...28,692,327
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL11A BAF chromatin remodeling complex subunit BCL11A ISO OMIM NCBI chr 3:81,195,217...81,296,165
Ensembl chr 3:81,196,294...81,296,165
JBrowse link
Lymphatic Malformation 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPHB4 EPH receptor B4 ISO OMIM NCBI chr 3:8,671,052...8,689,778
Ensembl chr 3:8,668,858...8,689,766
JBrowse link
G SLC12A9 solute carrier family 12 member 9 ISO ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to ClinVar PMID:25741868 NCBI chr 3:8,696,593...8,712,904
Ensembl chr 3:8,697,439...8,712,918
JBrowse link
Lymphatic Malformation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALCRL calcitonin receptor like receptor ISO OMIM NCBI chr15:92,233,264...92,332,459
Ensembl chr15:92,233,269...92,332,385
JBrowse link
Majeed Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LPIN2 lipin 2 ISO OMIM NCBI chr 6:103,625,725...103,728,151
Ensembl chr 6:103,578,549...103,728,151
JBrowse link
methemoglobinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYB5A cytochrome b5 type A ISO DNA:missense mutation:cds:p.S127P (human) RGD PMID:2107882 RGD:1599659 NCBI chr 1:149,737,584...149,773,222
Ensembl chr 1:149,737,571...149,783,623
JBrowse link
G CYB5R3 cytochrome b5 reductase 3 ISO DNA:point mutations, splice-site mutation: ;535G>A, 757G>A, 379A>G, IVS4-2A>G
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11295830 PMID:16469290 RGD:1599771 NCBI chr 5:6,146,230...6,170,209
Ensembl chr 5:6,146,279...6,170,202
JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12030840 NCBI chr 7:58,779,529...58,786,155
Ensembl chr 7:58,779,475...58,786,100
JBrowse link
G LOC110259958 hemoglobin subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:3026948 NCBI chr 3:41,482,353...41,483,564 JBrowse link
methemoglobinemia and ambiguous genitalia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYB5A cytochrome b5 type A ISO OMIM NCBI chr 1:149,737,584...149,773,222
Ensembl chr 1:149,737,571...149,783,623
JBrowse link
Methemoglobinemia, Alpha-Globin Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110259958 hemoglobin subunit alpha ISO OMIM NCBI chr 3:41,482,353...41,483,564 JBrowse link
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMMECR1 AMMECR nuclear protein 1 ISO OMIM NCBI chr  X:90,304,918...90,420,207
Ensembl chr  X:90,307,187...90,420,168
JBrowse link
G RTL9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:90,553,099...90,565,001
Ensembl chr  X:90,558,757...90,566,449
JBrowse link
G TMEM164 transmembrane protein 164 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar PMID:21681106 PMID:27811305 PMID:28089922 NCBI chr  X:90,105,293...90,289,674
Ensembl chr  X:90,105,238...90,289,671
JBrowse link
NADH Cytochrome B5 Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYB5R3 cytochrome b5 reductase 3 ISO OMIM NCBI chr 5:6,146,230...6,170,209
Ensembl chr 5:6,146,279...6,170,202
JBrowse link
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPI glucose-6-phosphate isomerase ISO OMIM NCBI chr 6:44,038,374...44,069,331
Ensembl chr 6:43,933,759...44,069,330
JBrowse link
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HK1 hexokinase 1 ISO OMIM NCBI chr14:72,383,328...72,460,927
Ensembl chr14:72,351,149...72,460,925
JBrowse link
Nuchal Bleb, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFTR CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:29879995 PMID:31036917 PMID:32357917 NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 More... NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,569,746...50,589,787
JBrowse link
Ovalocytosis, Malaysian-Melanesian-Filipino Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC4A1 solute carrier family 4 member 1 ISO OMIM NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,805...18,974,216
JBrowse link
overhydrated hereditary stomatocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RHAG Rh associated glycoprotein ISO OMIM NCBI chr 7:43,704,152...43,730,944
Ensembl chr 7:43,703,930...43,730,066
JBrowse link
paroxysmal nocturnal hemoglobinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO protein:increased processing:erythrocyte RGD PMID:6915939 RGD:11040769 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,499...72,528,112
JBrowse link
G C5 complement C5 ISO OMIM NCBI chr 1:260,995,662...261,088,868
Ensembl chr 1:260,995,662...261,133,483
JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 treatment ISO RGD PMID:22206707 RGD:11352266 NCBI chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,233
JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A ISO OMIM NCBI chr  X:11,871,746...11,886,519
Ensembl chr  X:11,871,746...11,886,440
JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1
CTD
ClinVar
PMID:25417052 PMID:25741868 NCBI chr17:47,735,339...47,750,052
Ensembl chr17:47,734,803...47,751,909
JBrowse link
Paroxysmal Nocturnal Hemoglobinuria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGT phosphatidylinositol glycan anchor biosynthesis class T ISO OMIM NCBI chr17:47,735,339...47,750,052
Ensembl chr17:47,734,803...47,751,909
JBrowse link
pyruvate kinase deficiency of red cells term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 ISO ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells ClinVar NCBI chr 4:94,545,919...94,560,105
Ensembl chr 4:94,545,704...94,560,106
JBrowse link
G PKLR pyruvate kinase L/R ISO OMIM NCBI chr 4:94,536,978...94,546,561
Ensembl chr 4:94,536,954...94,547,591
JBrowse link
Rh deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RHAG Rh associated glycoprotein ISO OMIM NCBI chr 7:43,704,152...43,730,944
Ensembl chr 7:43,703,930...43,730,066
JBrowse link
G RSRP1 arginine and serine rich protein 1 ISO ClinVar Annotator: match by term: RhD negative ClinVar NCBI chr 6:82,850,947...82,861,578
Ensembl chr 6:82,850,947...82,854,268
JBrowse link
Rh-Null Disease, Amorph Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RHCE Rh blood group CcEe antigens ISO OMIM NCBI chr 6:82,880,585...82,925,238
Ensembl chr 6:82,880,584...82,925,305
JBrowse link
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 1:254,015,426...254,027,584
Ensembl chr 1:254,012,196...254,027,485
JBrowse link
G APOB apolipoprotein B treatment ISO RGD PMID:24035168 RGD:11354943 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
G BCL11A BAF chromatin remodeling complex subunit BCL11A treatment
severity
ISO DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human) RGD PMID:18667698 PMID:21998251 PMID:22360576 RGD:11099970 RGD:11099996 RGD:11100007 NCBI chr 3:81,195,217...81,296,165
Ensembl chr 3:81,196,294...81,296,165
JBrowse link
G C3 complement C3 severity ISO protein:increased processing RGD PMID:3896597 PMID:7554454 RGD:11040773 RGD:11040777 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,499...72,528,112
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,495
JBrowse link
G CD36 CD36 molecule treatment ISO protein:increased expression:erythrocyte RGD PMID:18322255 PMID:20015873 RGD:11041114 RGD:6893506 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:plasma (human) RGD PMID:24368019 RGD:11352270 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link
G CFB complement factor B ISO protein:decreased activity RGD PMID:10440069 PMID:12793071 RGD:11041159 RGD:11041160 NCBI chr 7:24,034,077...24,040,523 JBrowse link
G CYP2C49 cytochrome P450 2C49 susceptibility ISO DNA:polymorphisms: :c.681 G>A,wildtype(human) RGD PMID:20831548 RGD:11352749 NCBI chr14:106,571,803...106,612,082 JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:14,942,898...14,956,000
Ensembl chr 6:14,942,933...14,956,000
JBrowse link
G F2 coagulation factor II, thrombin disease_progression ISO protein:increased expression:plasma: RGD PMID:8191393 PMID:26286849 RGD:11565074 RGD:11565080 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,451...15,819,138
JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:plasma RGD PMID:15795541 RGD:11341683 NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,992...122,837,672
JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO protein:decreased expression:penis RGD PMID:19951064 PMID:20846340 PMID:22620981 RGD:11352756 RGD:11352757 RGD:11352775 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,914,932...31,917,335
JBrowse link
G GSR glutathione-disulfide reductase ISO protein:increased activity:erythrocyte: RGD PMID:14717789 RGD:11059503 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,989
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 9:4,818,206...4,820,243
Ensembl chr 9:4,818,089...4,820,236
JBrowse link
G HK1 hexokinase 1 ISO protein:alternative form:erythrocyte RGD PMID:5686464 RGD:11353884 NCBI chr14:72,383,328...72,460,927
Ensembl chr14:72,351,149...72,460,925
JBrowse link
G HMBS hydroxymethylbilane synthase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr 9:46,300,039...46,308,681
Ensembl chr 9:46,300,050...46,313,936
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO RGD PMID:11238038 PMID:20306336 RGD:10755563 RGD:10755565
G HP haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:24281564 RGD:11046271 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL5 interleukin 5 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:25843670 RGD:11354938 NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
JBrowse link
G MDM2 MDM2 proto-oncogene ISO RGD PMID:21085184 RGD:10412315 NCBI chr 5:33,105,717...33,137,602
Ensembl chr 5:33,086,994...33,178,089
JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association
severity
ISO DNA:SNP: :677C>T (human)
DNA:SNP: :1298A>C (human)
RGD PMID:20113291 PMID:22924497 RGD:10449403 RGD:10449420 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,648...83,146,183
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 chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G NPPB natriuretic peptide B severity ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:20408845 PMID:21689089 RGD:5685653 NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,919,495...71,932,254
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 severity ISO protein:increased expression:serum (human) RGD PMID:20306667 RGD:11541101 NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,582,481...14,723,336
JBrowse link
G PGF placental growth factor ISO protein:increased expression:plasma RGD PMID:20040765 RGD:6483588 NCBI chr 7:98,149,510...98,162,784 JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity: serum (human) RGD PMID:24508012 RGD:11553835 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,724
JBrowse link
G SELP selectin P ISO RGD PMID:21071696 RGD:6219007 NCBI chr 4:81,376,804...81,401,240
Ensembl chr 4:81,365,740...81,406,203
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO protein:increased expression:plasma: RGD PMID:26928604 RGD:11062147 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
CTD
RGD
PMID:8140855 PMID:14965870 RGD:10449460 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G UMPS uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr13:135,611,857...135,650,656
Ensembl chr13:135,610,058...135,650,604
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16916123 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,908...117,511,226
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 chr12:47,949,004...47,959,471
Ensembl chr12:47,943,051...47,959,472
JBrowse link
Sickle Cell Trait term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HP haptoglobin ISO RGD PMID:19023114 PMID:21595649 RGD:5147416 RGD:5147440 NCBI chr 6:14,980,382...14,985,245 JBrowse link
Stomatocytosis II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNN4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Stomatocytosis II ClinVar PMID:25741868 NCBI chr 6:50,580,016...50,593,518
Ensembl chr 6:50,580,022...50,593,544
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Stomatocytosis II ClinVar PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 More... NCBI chr 6:914,480...967,113
Ensembl chr 6:915,365...967,106
JBrowse link
thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HBB hemoglobin, beta ISO ClinVar Annotator: match by term: Hemoglobin Lepore trait ClinVar PMID:701081 PMID:1347969 PMID:1693293 PMID:2442092 PMID:4625560 More... NCBI chr 9:4,800,683...4,801,941
Ensembl chr 9:4,621,187...4,809,453
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO protein:increased expression:serum RGD PMID:11732868 RGD:10450569
G LOC110259958 hemoglobin subunit alpha ISO ClinVar Annotator: match by term: HEMOGLOBIN TUNIS-BIZERTE ClinVar PMID:7786798 NCBI chr 3:41,482,353...41,483,564 JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum RGD PMID:11732868 RGD:10450569 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
triosephosphate isomerase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPI1 triosephosphate isomerase 1 ISO OMIM NCBI chr 5:63,839,473...63,842,853
Ensembl chr 5:63,837,506...63,843,137
JBrowse link
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NT5C3A 5'-nucleotidase, cytosolic IIIA ISO OMIM NCBI chr18:40,440,890...40,483,043
Ensembl chr18:40,441,102...40,483,376
JBrowse link
Vaso-occlusive Crisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MBL2 mannose binding lectin 2 susceptibility ISO associated with Anemia, Sickle Cell;DNA:promoter,exon: RGD PMID:20172753 RGD:11530044 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,894...97,108,936
JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeats:intron: RGD PMID:25263931 RGD:11533931 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO RGD PMID:23643401 RGD:11100023 NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,805...18,974,216
JBrowse link
X-linked congenital hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP11C ATPase phospholipid transporting 11C ISO OMIM NCBI chr  X:114,394,436...114,575,658
Ensembl chr  X:114,394,438...114,582,150
JBrowse link
X-linked thrombocytopenia with beta-thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA1 GATA binding protein 1 ISO OMIM NCBI chr  X:42,898,431...42,905,939
Ensembl chr  X:42,898,442...42,905,976
JBrowse link
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA1 GATA binding protein 1 ISO OMIM NCBI chr  X:42,898,431...42,905,939
Ensembl chr  X:42,898,442...42,905,976
JBrowse link
G ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 ISO DNA:missense mutation:multiple (human) RGD PMID:28942350 RGD:151232291 NCBI chr  X:12,336,635...12,365,071
Ensembl chr  X:12,295,451...12,367,227
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13702
    disease of anatomical entity 13375
      hematopoietic system disease 1757
        anemia 405
          normocytic anemia 186
            hemolytic anemia 186
              6-Phosphogluconolactonase Deficiency 0
              CD59 Deficiency 1
              Distal Renal Tubular Acidosis 4 with Hemolytic Anemia 2
              Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to 1
              Heme Oxygenase 1 Deficiency 1
              Hemolytic Anemia due to Adenylate Kinase Deficiency 1
              Hemolytic Anemia due to Elevated Adenosine Deaminase 0
              Hemolytic Anemia due to Glutathione Reductase Deficiency 1
              Hemolytic Anemia with Thermal Sensitivity of Red Cells 0
              Hemolytic Poikilocytic Anemia due to Reduced Ankyrin Binding Sites 0
              Hexokinase Deficiency Hemolytic Anemia 1
              Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency 1
              Paroxysmal Exertion-Induced Dyskinesia and Hemolytic Anemia 0
              Rh deficiency syndrome 2
              autoimmune hemolytic anemia + 6
              congenital hemolytic anemia + 144
              glutamate-cysteine ligase deficiency 1
              hemoglobinuria + 6
              hemolytic anemia due to glutathione synthetase deficiency 1
              hemolytic-uremic syndrome + 34
              paroxysmal nocturnal hemoglobinuria + 5
Path 2
Term Annotations click to browse term
  disease 13702
    disease of anatomical entity 13375
      Hemic and Lymphatic Diseases 2128
        hematopoietic system disease 1757
          anemia 405
            normocytic anemia 186
              hemolytic anemia 186
                6-Phosphogluconolactonase Deficiency 0
                CD59 Deficiency 1
                Distal Renal Tubular Acidosis 4 with Hemolytic Anemia 2
                Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to 1
                Heme Oxygenase 1 Deficiency 1
                Hemolytic Anemia due to Adenylate Kinase Deficiency 1
                Hemolytic Anemia due to Elevated Adenosine Deaminase 0
                Hemolytic Anemia due to Glutathione Reductase Deficiency 1
                Hemolytic Anemia with Thermal Sensitivity of Red Cells 0
                Hemolytic Poikilocytic Anemia due to Reduced Ankyrin Binding Sites 0
                Hexokinase Deficiency Hemolytic Anemia 1
                Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency 1
                Paroxysmal Exertion-Induced Dyskinesia and Hemolytic Anemia 0
                Rh deficiency syndrome 2
                autoimmune hemolytic anemia + 6
                congenital hemolytic anemia + 144
                glutamate-cysteine ligase deficiency 1
                hemoglobinuria + 6
                hemolytic anemia due to glutathione synthetase deficiency 1
                hemolytic-uremic syndrome + 34
                paroxysmal nocturnal hemoglobinuria + 5
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