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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:congenital hemolytic anemia
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Accession:DOID:589 term browser browse the term
Definition:Hemolytic anemia due to various intrinsic defects of the erythrocyte.
Synonyms:exact_synonym: ANEMIA, NEONATAL HEMOLYTIC, FATAL AND NEAR-FATAL;   Congenital Hemolytic Anemias;   Hereditary Hemolytic Anemia;   Hereditary Hemolytic Anemias;   congenital hemolytic anaemia;   hereditary hemolytic anaemia
 related_synonym: HEMOGLOBIN CHEVERLY;   HEMOGLOBIN I (TOULOUSE);   HEMOGLOBIN ISTANBUL;   HEMOGLOBIN SAINT ETIENNE;   HEMOGLOBIN SANTA ANA;   HEMOGLOBIN TOULOUSE;   HEMOGLOBIN WASHTENAW
 primary_id: MESH:D000745;   RDO:0000333
 xref: GARD:6167;   ICD10CM:D58.9;   ICD9CM:282;   NCI:C34379
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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
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 HBM hemoglobin subunit mu ISO ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:2986746, PMID:3191033, PMID:6158051, PMID:10602170, PMID:11017952, PMID:24025420 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:2318293, PMID:3191033, PMID:7910813, PMID:8781536, PMID:10602170, PMID:11017952, PMID:12393486, PMID:15650030, PMID:20154289, PMID:21599435, PMID:23590659, PMID:24025420 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, PMID:10602170, PMID:11017952, PMID:24025420, PMID:26114741, PMID:28791910 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, PMID:25342395, PMID:26467025, PMID:27173219, PMID:29749692 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
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, PMID:26467025, PMID:27207683, PMID:28526955 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
congenital dyserythropoietic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDAN1 codanin 1 susceptibility ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Congenital dyserythropoietic anemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:12434312, PMID:16098079 RGD:11081155, RGD:1600473 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
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, PMID:18575862, PMID:20301759, PMID:22407294, PMID:23065504, PMID:25741868, PMID:25741869, PMID:27827297, PMID:28132690, PMID:28492532, PMID:29901818 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 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
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Xerocytosis hereditary ClinVar PMID:16898969, PMID:21944700, PMID:22529292, PMID:23479567, PMID:23695678, PMID:24033266, PMID:25741868 NCBI chr 6:914,480...967,113
Ensembl chr 6:915,365...967,106
JBrowse link
dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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, PMID:15921167, PMID:16434382 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, PMID:2018846, PMID:3401592, PMID:3676110, PMID:8118467, PMID:8330984, PMID:8364213, PMID:11939506, PMID:12402333, PMID:16434382, PMID:18221842, PMID:20678137, PMID:23215833, PMID:23806011, PMID:24601842, PMID:24985928, PMID:27387985 NCBI chr 9:4,800,683...4,801,941
Ensembl chr 9:4,621,187...4,809,453
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
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: Favism, susceptibility to
ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency
ClinVar PMID:8471773, PMID:10502785, PMID:11601226, PMID:16329560, PMID:28492532, PMID:29339739, PMID:30315739 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, PMID:1303182, PMID:1536798, PMID:1551674, PMID:1562739, PMID:1631957, PMID:1805484, PMID:1924316, PMID:1972698, PMID:1978554, PMID:1978555, PMID:1999339, PMID:2253938, PMID:2255919, PMID:2263506, PMID:2321910, PMID:2503817, PMID:2572288, PMID:2602358, PMID:2633878, PMID:2836867, PMID:2849540, PMID:2895981, PMID:2912069, PMID:3338798, PMID:3393536, PMID:3446582, PMID:4125296, PMID:4154774, PMID:4283789, PMID:4359638, PMID:4388132, PMID:4435794, PMID:4728291, PMID:4837298, PMID:4974311, PMID:5305539, PMID:5369703, PMID:5485383, PMID:5673160, PMID:5770172, PMID:6015571, PMID:6344088, PMID:6698555, PMID:6714978, PMID:6714986, PMID:7129446, PMID:7160841, PMID:7203486, PMID:7283560, PMID:7327562, PMID:7390473, PMID:7789945, PMID:7806085, PMID:7825590, PMID:7947239, PMID:7947250, PMID:7949118, PMID:7959686, PMID:8118045, PMID:8447319, PMID:8471773, PMID:8533762, PMID:8537082, PMID:8611726, PMID:8807321, PMID:8807322, PMID:8860013, PMID:8956035, PMID:9299858, PMID:9342374, PMID:9410474, PMID:9427729, PMID:9589612, PMID:9858856, PMID:10221015, PMID:10502785, PMID:10643148, PMID:10666231, PMID:10734064, PMID:11024211, PMID:11112389, PMID:11243133, PMID:11400791, PMID:11445808, PMID:11499668, PMID:11601226, PMID:11793482, PMID:11852882, PMID:12028056, PMID:12215013, PMID:12367584, PMID:12497642, PMID:12737938, PMID:12768444, PMID:14278484, PMID:14505231, PMID:15183620, PMID:15223006, PMID:15315792, PMID:15349799, PMID:15502081, PMID:15735168, PMID:15906717, PMID:15914531, PMID:16088936, PMID:16119988, PMID:16136268, PMID:16143877, PMID:16155737, PMID:16329560, PMID:16356170, PMID:16528451, PMID:16607506, PMID:16777444, PMID:16927025, PMID:17587269, PMID:17726510, PMID:17959407, PMID:18043863, PMID:18046504, PMID:18177777, PMID:18270558, PMID:18329300, PMID:19112496, PMID:19589177, PMID:19594365, PMID:19690618, PMID:20007901, PMID:20203002, PMID:20236109, PMID:20582980, PMID:20602793, PMID:20621077, PMID:21153663, PMID:21302115, PMID:21446359, PMID:21479984, PMID:21677401, PMID:21874587, PMID:21931771, PMID:21989994, PMID:22018328, PMID:22165289, PMID:22171972, PMID:22237549, PMID:22293322, PMID:22906047, PMID:22963798, PMID:22992668, PMID:23006493, PMID:23144702, PMID:23365477, PMID:23479361, PMID:23757202, PMID:23926329, PMID:23965028, PMID:24033266, PMID:24101478, PMID:24460025, PMID:24505519, PMID:24586352, PMID:25141282, PMID:25201310, PMID:25326637, PMID:25440321, PMID:25541721, PMID:25548459, PMID:25741868, PMID:25775246, PMID:26060661, PMID:26226515, PMID:26633385, PMID:26823837, PMID:26829728, PMID:27040960, PMID:27053284, PMID:27213370, PMID:27287612, PMID:27535533, PMID:27880809, PMID:28195434, PMID:28492532, PMID:29072585, PMID:29339739, PMID:30045279, PMID:30097005, PMID:30311386, PMID:30315739, PMID:32860008 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, PMID:29339739, PMID:30315739 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
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
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 LOC110259958 hemoglobin subunit alpha ISO ClinVar Annotator: match by term: HEMOGLOBIN AGHIA SOPHIA
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 HOPKINS 2
ClinVar Annotator: match by term: HEMOGLOBIN J (BROUSSAIS)
ClinVar PMID:646867, PMID:740406, PMID:943846, PMID:4503919, PMID:4986187, PMID:5452727, PMID:8237999, PMID:9029003, PMID:10569720, PMID:11558897, PMID:12403494, PMID:13500096, PMID:13536534, PMID:13863929, PMID:15481890, PMID:16590776, PMID:19636270, PMID:20147853, PMID:25342395, PMID:26467025, PMID:27173219, PMID:29749692 NCBI chr 3:41,482,353...41,483,564 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 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:1737855, PMID:7742553, PMID:9312167, PMID:25741868 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: Hereditary elliptocytosis
ClinVar Annotator: match by term: Ovalocytosis
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: Hereditary elliptocytosis
ClinVar Annotator: match by term: Ovalocytosis
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 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, PMID:23390527, PMID:23934996 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: Spherocytosis, Recessive
DNA:polymorphisms:introns,exon:
RGD
ClinVar
PMID:11920196, PMID:15384986, PMID:28492532 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
Hydrops Fetalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 DHCR7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:8259166, PMID:8737829, PMID:9024557, PMID:9653161, PMID:9683613, PMID:10677299, PMID:10807690, PMID:10814720, PMID:10995508, PMID:11078571, PMID:11161831, PMID:11175299, PMID:11241839, PMID:11427181, PMID:11562938, PMID:12794707, PMID:15286151, PMID:15464432, PMID:15521979, PMID:15670717, PMID:15776424, PMID:15805162, PMID:15952211, PMID:16497572, PMID:16761297, PMID:16906538, PMID:17965227, PMID:18285838, PMID:19365639, PMID:19390132, PMID:20301322, PMID:20556518, PMID:20635399, PMID:21777499, PMID:22438180, PMID:22975760, PMID:23042628, PMID:23293579, PMID:23918729, PMID:24033266, PMID:24824134, PMID:25108116, PMID:25741868, PMID:25807282, PMID:26467025, PMID:28166604, PMID:28492532, PMID:30311386 NCBI chr 2:2,377,352...2,391,846
Ensembl chr 2:2,377,416...2,391,448
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 FZD6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar 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 Annotator: match by term: Nonimmune hydrops fetalis
ClinVar PMID:1702266, PMID:7573038, PMID:7680524, PMID:8644704, PMID:9099834, PMID:19224584, PMID:25741868, PMID:26036949, PMID:28492532, PMID:29620724, PMID:30311386 NCBI chr 3:16,672,071...16,686,520
Ensembl chr 3:16,671,420...16,689,231
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 L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:7881431, PMID:9300653, PMID:25741868, PMID:31680349 NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307
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 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 PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: 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 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409
JBrowse link
G RAPSN receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:10449659, PMID:25741868, PMID:31680349 NCBI chr 2:15,166,968...15,181,011
Ensembl chr 2:15,066,547...15,193,085
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, PMID:22473935, PMID:23553787, PMID:23919265, PMID:24033266, PMID:24088041, PMID:24195946, PMID:24951453, PMID:25476234, PMID:25741868, PMID:26633545, PMID:28492532, PMID:31680349 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 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 TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,641...165,235,150
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
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 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 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 LOC100524254 NADH-cytochrome b5 reductase 3-like 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 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 Type IV 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 LOC100524254 NADH-cytochrome b5 reductase 3-like 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
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
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-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 nuclear factor, erythroid 2 like 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 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, PMID:22529292, PMID:23479567, PMID:23695678, PMID:24033266, PMID:25741868, PMID:29576450 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, PMID:5356627, PMID:5660684, PMID:5964983, PMID:13892631, PMID:14133899, PMID:14478740, PMID:16114186, PMID:25741868, PMID:30311386 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12649
    Developmental Diseases 8961
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7812
        genetic disease 7358
          congenital hemolytic anemia 127
            Congenital Hemolytic Anemia with Emphysema and Cutis Laxa 0
            Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency 1
            Red Cell Phospholipid Defect with Hemolysis 0
            Rh-Null Disease, Amorph Type 1
            Stomatocytosis II 1
            Transient Erythroblastopenia of Childhood 0
            Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 1
            X-linked congenital hemolytic anemia 1
            congenital dyserythropoietic anemia + 7
            congenital nonspherocytic hemolytic anemia + 12
            dehydrated hereditary stomatocytosis + 2
            glucosephosphate dehydrogenase deficiency + 7
            hemoglobinopathy + 94
            hereditary elliptocytosis + 9
            hereditary spherocytosis + 10
            overhydrated hereditary stomatocytosis 1
            sickle cell anemia + 38
            thalassemia + 64
Path 2
Term Annotations click to browse term
  disease 12649
    disease of anatomical entity 12188
      Hemic and Lymphatic Diseases 1843
        hematopoietic system disease 1477
          anemia 383
            normocytic anemia 167
              hemolytic anemia 167
                congenital hemolytic anemia 127
                  Congenital Hemolytic Anemia with Emphysema and Cutis Laxa 0
                  Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency 1
                  Red Cell Phospholipid Defect with Hemolysis 0
                  Rh-Null Disease, Amorph Type 1
                  Stomatocytosis II 1
                  Transient Erythroblastopenia of Childhood 0
                  Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 1
                  X-linked congenital hemolytic anemia 1
                  congenital dyserythropoietic anemia + 7
                  congenital nonspherocytic hemolytic anemia + 12
                  dehydrated hereditary stomatocytosis + 2
                  glucosephosphate dehydrogenase deficiency + 7
                  hemoglobinopathy + 94
                  hereditary elliptocytosis + 9
                  hereditary spherocytosis + 10
                  overhydrated hereditary stomatocytosis 1
                  sickle cell anemia + 38
                  thalassemia + 64
paths to the root

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