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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;   Hereditary Hemolytic Anemia;   congenital hemolytic anaemia;   congenital hemolytic anemias;   hereditary hemolytic anaemia;   hereditary hemolytic anemias
 related_synonym: HEMOGLOBIN I (TOULOUSE);   HEMOGLOBIN ISTANBUL;   HEMOGLOBIN SAINT ETIENNE;   HEMOGLOBIN SANTA ANA;   HEMOGLOBIN TOULOUSE;   HEMOGLOBIN WASHTENAW;   hemoglobin Cheverly
 primary_id: MESH:D000745
 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 Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 6:15,717,936...15,743,376
Ensembl chr 6:9,965,118...9,990,563 		JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 6:15,698,448...15,717,730
Ensembl chr 6:9,945,629...9,964,912 		JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Cd46 CD46 molecule ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr13:109,104,122...109,134,903
Ensembl chr13:106,574,858...106,660,445 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:5316621 PMID:25741868 PMID:28492532 PMID:29300386 PMID:32641076 More... NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO Severe GPI deficiency with neurologic deficits RGD PMID:8499925 PMID:9856489 RGD:1600631, RGD:1600632 NCBI chr 1:95,965,389...95,996,932
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Gsr glutathione-disulfide reductase ISO RGD PMID:947404 RGD:1600697 NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN CHEVERLY | ClinVar Annotator: match by term: HEMOGLOBIN SANTA ANA | ClinVar Annotator: match by term: HEMOGLOBIN WASHTENAW ClinVar
RGD		 PMID:3839771 PMID:5713642 PMID:6815132 PMID:6877904 PMID:7852083 More... RGD:1600886 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr19:67,453,120...67,515,347
Ensembl chr19:50,544,582...50,606,501 		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 6:100,998,965...101,042,120
Ensembl chr 6:95,266,058...95,310,359 		JBrowse link
G Rhd Rh blood group, D antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:9657769 NCBI chr 5:152,371,160...152,405,396
Ensembl chr 5:147,087,518...147,121,715 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO DNA:missense mutations:cds:multiple (human) RGD PMID:16227998 PMID:8841202 RGD:10450505, RGD:10450509 NCBI chr10:87,807,010...87,823,274
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 PMID:26002053 PMID:28492532 NCBI chr13:88,735,833...88,811,697
Ensembl chr13:86,203,504...86,279,371 		JBrowse link
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118 		JBrowse link
acute chest syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO associated with sickle cell anemia; RGD PMID:23590899 RGD:10450838 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:23590899 RGD:10450838 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hbb hemoglobin subunit beta ISO DNA:SNPs, haplotypes RGD PMID:23952145 RGD:10449047 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Hmox1 heme oxygenase 1 ISO associated with Anemia, Sickle Cell;DNA:repeat:promoter RGD PMID:22966170 RGD:10755560 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeats:intron:
associated with Anemia, Sickle Cell;DNA:polymorphism: :-786T>C(human)		 RGD PMID:25263931 PMID:14687036 RGD:11533931, RGD:11533934 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human)
associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human)		 RGD PMID:25130874 PMID:22925497 RGD:11075233, RGD:11075235 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		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 chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Hba-a1 hemoglobin alpha, adult chain 1 severity ISO
IAGP		 DNA:mutations:cds:c.179G>A (p.G60D);c.427¿¿¿T>C(human)
DNA:deletion:cds:c.del-2_-3del(human)
associated with Anemia, Sickle Cell;
DNA:missense mutation:cds: c.2T>C(human)		 RGD PMID:4044827 PMID:14555303 PMID:24829075 PMID:4006915 PMID:9604545 More... RGD:10449442, RGD:11353869, RGD:10755575, RGD:10755570, RGD:10755568, RGD:10755567 NCBI chr10:15,841,724...15,842,580
Ensembl chr10:15,307,815...15,338,392 		JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO DNA:point mutation:exon:p.M1T (human)
ClinVar Annotator: match by term: Alpha-thalassemia, zf type | ClinVar Annotator: match by term: HEMOGLOBIN CHAROLLES | ClinVar Annotator: match by term: HEMOGLOBIN PETAH TIKVA | ClinVar Annotator: match by term: alpha Thalassemia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:508945 PMID:538560 PMID:640847 PMID:646867 PMID:949043 More... RGD:1599361, RGD:10449442 NCBI chr10:15,828,291...15,829,138
Ensembl chr10:15,307,815...15,338,392
Ensembl chr10:15,307,815...15,338,392 		JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 severity ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: A-Thalassemia | ClinVar Annotator: match by term: Alpha-thalassemia, zf type | ClinVar Annotator: match by term: alpha Thalassemia
associated with Anemia, Sickle Cell;		 CTD
ClinVar
OMIM
RGD		 PMID:13856 PMID:478977 PMID:538560 PMID:620088 PMID:868864 More... RGD:10755568 NCBI chr10:15,816,099...15,816,943
Ensembl chr10:15,311,634...15,312,481 		JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN KENITRA | ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU | ClinVar Annotator: match by term: alpha Thalassemia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:14973 PMID:81926 PMID:88735 PMID:274732 PMID:893136 More... RGD:11353869 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:1347969 PMID:1693293 PMID:2442092 PMID:4625560 PMID:5660684 More... NCBI chr 1:158,224,175...158,231,675
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Hbq1b hemoglobin subunit theta 1B ISO ClinVar Annotator: match by term: Alpha-thalassemia, zf type | ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:538560 PMID:1553958 PMID:2318293 PMID:3191033 PMID:7910813 More... NCBI chr10:15,838,752...15,840,074
Ensembl chr10:15,320,762...15,321,397
Ensembl chr10:15,320,762...15,321,397 		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 chr10:15,343,821...15,345,301
Ensembl chr10:15,343,831...15,345,312 		JBrowse link
G Hp haptoglobin ISO RGD PMID:16760505 RGD:11041792 NCBI chr19:54,449,151...54,453,701
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Luc7l LUC7-like ISO ClinVar Annotator: match by term: Alpha-thalassemia, zf type ClinVar PMID:10910890 PMID:12730694 PMID:35190856 NCBI chr10:15,777,837...15,811,586
Ensembl chr10:15,273,348...15,303,112 		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 Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:11438998 PMID:12815606 PMID:22397652 PMID:25731960 PMID:25741868 More... NCBI chr 5:155,234,770...155,289,785
Ensembl chr 5:149,951,409...150,006,446 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:11241493 PMID:15591283 PMID:18409179 PMID:20652413 PMID:23681356 More... NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Atr ATR serine/threonine kinase ISO ClinVar Annotator: match by term: ATR-X-related syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:105,306,299...105,403,742
Ensembl chr 8:96,426,724...96,524,136 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO
ISS		 ClinVar Annotator: match by term: ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED | ClinVar Annotator: match by term: ATR-X-related syndrome | ClinVar Annotator: match by term: ATRX-related disorder | ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome | ClinVar Annotator: match by term: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome | ClinVar Annotator: match by term: Alpha-thalassemia/intellectual disability syndrome | ClinVar Annotator: match by term: X-linked alpha-thalassemia-mental retardation syndrome | ClinVar Annotator: match by term: XLMR hypotonic face syndrome
OMIM:301040
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exons: c.6253C>T (p.R2085C), c.6254G>A (p.R2085H)(human)
DNA:missense mutations:exons: c.736C>T (p.R246C), c.736C>T (p.R246C)(human)
DNA:nonsense mutation:exon: c.109C>T (p.R37X)(human) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1770528 PMID:3239563 PMID:3658675 PMID:6682021 PMID:6711605 More... RGD:9586030, RGD:9586029, RGD:9586027 NCBI chr  X:74,916,548...75,062,880
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:11241493 PMID:15591283 PMID:18409179 PMID:20652413 PMID:23681356 More... NCBI chr  X:75,149,036...75,155,285
Ensembl chr  X:71,083,456...71,089,732 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:25741868 NCBI chr 2:176,902,141...176,916,015
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:11241493 PMID:15591283 PMID:18409179 PMID:20652413 PMID:23681356 More... NCBI chr  X:71,038,489...71,079,704
Ensembl chr  X:71,038,489...71,079,699 		JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:28492532 NCBI chr  X:75,336,988...75,352,962
Ensembl chr  X:71,271,440...71,287,418 		JBrowse link
Alpha-Thalassemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Alpha-thalassemia, Dutch type ClinVar PMID:11791872 NCBI chr10:15,828,291...15,829,138
Ensembl chr10:15,307,815...15,338,392
Ensembl chr10:15,307,815...15,338,392 		JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: Alpha-thalassemia, Dutch type | ClinVar Annotator: match by term: HEMOGLOBIN ZURICH ALBISRIEDEN ClinVar PMID:8237999 PMID:8943885 PMID:12603095 PMID:15481895 PMID:15658192 More... NCBI chr10:15,816,099...15,816,943
Ensembl chr10:15,311,634...15,312,481 		JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN RIO CLARO ClinVar PMID:10335985 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:158,120,200...158,252,012 		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 ClinVar Annotator: match by term: Acquired hemoglobin H disease | ClinVar Annotator: match by term: Alpha-thalassemia myelodysplasia syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3239563 PMID:9326931 PMID:10398237 PMID:10632111 PMID:10995512 More... NCBI chr  X:74,916,548...75,062,880
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
Alpha-Thalassemia-2, Nondeletional term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional ClinVar PMID:1634361 PMID:2298455 PMID:2468982 PMID:3177365 PMID:4623704 More... NCBI chr10:15,828,291...15,829,138
Ensembl chr10:15,307,815...15,338,392
Ensembl chr10:15,307,815...15,338,392 		JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: HEMOGLOBIN PLASENCIA | ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional ClinVar PMID:1281602 PMID:1581238 PMID:1634361 PMID:2298455 PMID:2372512 More... NCBI chr10:15,816,099...15,816,943
Ensembl chr10:15,311,634...15,312,481 		JBrowse link
autosomal dominant beta thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Beta-thalassemia, dominant inclusion body type | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:14973 PMID:81926 PMID:88735 PMID:750553 PMID:893136 More... NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:158,120,200...158,252,012 		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 1:105,583,681...105,637,895
Ensembl chr 1:96,447,251...96,501,464 		JBrowse link
G Apob apolipoprotein B ISO protein:decreased expression:plasma (human) RGD PMID:9180253 RGD:11354944 NCBI chr 6:36,563,704...36,603,300
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:22705320 RGD:11039491 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Bcl11a BCL11 transcription factor A severity
treatment		 ISO DNA:snps:intron:c. 386-24002G>T, c.386-24278G>A (rs766432, rs11886868) (human)
DNA:snp:intron:c.386-17267T>C (rs10189857) (human)
DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human)		 RGD PMID:23541515 PMID:25574177 PMID:25751242 PMID:22258351 RGD:11099969, RGD:11100011, RGD:11100008, RGD:11100005 NCBI chr14:102,230,147...102,325,289
Ensembl chr14:98,030,461...98,124,180 		JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO CTD Direct Evidence: marker/mechanism CTD PMID:31542421 NCBI chr10:14,894,630...14,952,317
Ensembl chr10:14,390,113...14,448,376 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:31,012,091...31,035,098
Ensembl chr 6:25,292,133...25,319,861 		JBrowse link
G Cfb complement factor B ISO protein:decreased expression:serum RGD PMID:6914868 RGD:11041572 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO DNA:SNP RGD PMID:12803121 RGD:11041179 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:54,460,636...54,483,049
Ensembl chr19:37,558,177...37,591,654 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:16225658 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G Gata1 GATA binding protein 1 treatment ISO RGD PMID:16696909 RGD:10450613 NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
G Gh1 growth hormone 1 treatment ISO RGD PMID:2045623 RGD:11352730 NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:decreased activity:erythrocyte: RGD PMID:20126808 RGD:11052141 NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:19838709 RGD:10755320 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585 		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 1:95,298,332...95,300,271
Ensembl chr 1:86,170,901...86,172,891 		JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: HEMOGLOBIN Q (INDIA) ClinVar PMID:949043 PMID:4646552 PMID:7803274 PMID:21045395 PMID:25354131 More... NCBI chr10:15,828,291...15,829,138
Ensembl chr10:15,307,815...15,338,392
Ensembl chr10:15,307,815...15,338,392 		JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: beta Thalassemia		 CTD
ClinVar		 PMID:1281602 PMID:1581238 PMID:2298455 PMID:2372512 PMID:3024968 More... NCBI chr10:15,816,099...15,816,943
Ensembl chr10:15,311,634...15,312,481 		JBrowse link
G Hbb hemoglobin subunit beta treatment ISO
ISS		 DNA:nonsense mutation:CDS:168C>T, p.Q39X (human)
ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia
ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia
ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN CITY OF HOPE | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia
OMIM:613985
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation, haplotypes: :p.Q39X (human)
DNA:mutations, haplotypes: :multiple		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:393 PMID:8114 PMID:14597 PMID:14973 PMID:20942 More... RGD:1600893, RGD:11353868, RGD:1600575, RGD:1600895 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr 1:158,224,175...158,231,675
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Hbb-b2 hemoglobin, beta adult minor chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17018382 NCBI chr 1:167,655,583...167,656,963
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Hbe1 hemoglobin subunit epsilon 1 ISO ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr 1:158,282,931...158,458,855
Ensembl chr 1:158,282,936...158,284,391 		JBrowse link
G Hbg1 hemoglobin subunit gamma 1 ISO ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr 1:167,683,760...167,685,315
Ensembl chr 1:158,271,873...158,273,425 		JBrowse link
G Hbs1l HBS1-like translational GTPase ISO DNA:SNP:exon:32C>T (human) RGD PMID:18839276 RGD:11353877 NCBI chr 1:16,092,529...16,170,082
Ensembl chr 1:16,092,547...16,170,074 		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 PMID:17160266 RGD:10755489, RGD:10755537, RGD:10755537 NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Hp haptoglobin ISO RGD PMID:22885163 RGD:11041795 NCBI chr19:54,449,151...54,453,701
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum: RGD PMID:9666877 RGD:12743604 NCBI chr14:86,270,208...86,277,944
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
G Il1a interleukin 1 alpha ISO mRNA:decreased expression:blood, mononuclear cell RGD PMID:21576933 RGD:11051969 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:plasma RGD PMID:23905873 RGD:11041617 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Klf1 KLF transcription factor 1 ISS OMIM:187550 | OMIM:603902 | OMIM:613985 MouseDO NCBI chr19:40,155,476...40,158,651
Ensembl chr19:23,250,631...23,253,758 		JBrowse link
G Lcn2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16755567 NCBI chr 3:36,078,432...36,081,851
Ensembl chr 3:15,680,687...15,684,095 		JBrowse link
G Or51b4 olfactory receptor family 51 subfamily B member 4 ISO ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr 1:167,729,117...167,730,040
Ensembl chr 1:158,317,228...158,318,151 		JBrowse link
G Or51v8b olfactory receptor family 51 subfamily V member 8B ISO ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr 1:167,399,672...167,400,616
Ensembl chr 1:157,987,781...157,988,725 		JBrowse link
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Mediterranean anemia ClinVar PMID:17301963 PMID:17718875 PMID:22903915 PMID:28492532 NCBI chr 3:82,002,106...82,012,273
Ensembl chr 3:61,596,641...61,605,045 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:26608512 RGD:11552583 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:12513847 RGD:11041746 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:increased expression:bone marrow RGD PMID:18466174 RGD:11038664 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tfr2 transferrin receptor 2 ISO mRNA:decreased expression:liver:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16755567 PMID:16755567 RGD:11062138 NCBI chr12:24,744,450...24,761,413
Ensembl chr12:19,107,673...19,124,591 		JBrowse link
G Tfrc transferrin receptor ISO mRNA:increased expression:liver:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16755567 PMID:16755567 RGD:11062138 NCBI chr11:81,668,478...81,690,318
Ensembl chr11:68,163,413...68,185,257 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphisms:3' utr RGD PMID:19103526 RGD:10449458 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Mediterranean anemia ClinVar PMID:7898523 PMID:8205619 PMID:8951566 PMID:9060892 PMID:9201030 More... NCBI chr13:49,819,123...49,837,125
Ensembl chr13:47,267,204...47,285,388 		JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:80,311,269...80,321,678
Ensembl chr11:66,806,045...66,821,903 		JBrowse link
beta-thalassemia intermedia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Beta thalassemia intermedia | ClinVar Annotator: match by term: Thalassemia intermedia ClinVar PMID:1301199 PMID:1428943 PMID:1463768 PMID:1550780 PMID:1586746 More... NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
beta-thalassemia major term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN KNOSSOS | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E
ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN COCODY | ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN) | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E
ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN COCODY | ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN) | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E
ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN) | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E
ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E		 ClinVar PMID:14973 PMID:27132 PMID:36184 PMID:49057 PMID:81926 More... NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:plasma (human) RGD PMID:17617032 RGD:11553831 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
central conducting lymphatic anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: EPHB4-associated vascular malformation spectrum | ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7 OMIM
ClinVar		 PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29444212 More... NCBI chr12:24,963,174...24,988,473
Ensembl chr12:19,326,427...19,351,314 		JBrowse link
G Mdfic MyoD family inhibitor domain containing ISS
ISO		 OMIM:617300
ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY		 MouseDO
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr 4:44,938,301...45,018,157
Ensembl chr 4:43,972,507...44,052,161 		JBrowse link
G Slc12a9 solute carrier family 12, member 9 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:25,005,741...25,022,628
Ensembl chr12:19,369,004...19,385,877 		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 ClinVar Annotator: match by term: Congenital dyserythropoietic anemia
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)		 ClinVar
CTD
RGD		 PMID:16098079 RGD:11081155 NCBI chr 3:107,675,147...107,689,811
Ensembl chr 3:107,673,645...107,689,773 		JBrowse link
G Cdin1 CDAN1 interacting nuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:102,441,553...102,646,935
Ensembl chr 3:102,441,704...102,646,682 		JBrowse link
G Diaph3 diaphanous-related formin 3 ISS MouseDO NCBI chr15:68,951,992...69,421,623
Ensembl chr15:62,543,375...63,012,975 		JBrowse link
G Irak4 interleukin-1 receptor-associated kinase 4 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia ClinVar PMID:25741868 NCBI chr 7:127,561,777...127,588,762
Ensembl chr 7:125,682,488...125,717,837 		JBrowse link
G Kif23 kinesin family member 23 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:71,293,439...71,321,911
Ensembl chr 8:62,397,948...62,425,072 		JBrowse link
G Klf1 KLF transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:40,155,476...40,158,651
Ensembl chr19:23,250,631...23,253,758 		JBrowse link
G Man2a1 mannosidase, alpha, class 2A, member 1 ISS OMIM:105600 | OMIM:224100 | OMIM:224120 | OMIM:613673 | OMIM:615631 MouseDO NCBI chr 9:111,698,913...111,855,257
Ensembl chr 9:104,252,001...104,408,349 		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:25044164 PMID:25741868 PMID:28492532 NCBI chr 3:152,392,340...152,434,813
Ensembl chr 3:131,939,337...131,981,489 		JBrowse link
G Ube2q2 ubiquitin conjugating enzyme E2 Q2 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia ClinVar PMID:25741868 NCBI chr 8:55,518,402...55,578,342
Ensembl chr 8:55,519,147...55,577,212 		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 chr19:51,838,411...51,858,639
Ensembl chr19:34,934,961...34,948,887 		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:9536098 PMID:12434312 PMID:12825070 PMID:16098079 PMID:16141353 More... NCBI chr 3:107,675,147...107,689,811
Ensembl chr 3:107,673,645...107,689,773 		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 DNA:missense mutations, nonsense mutations:cds:multiple
ClinVar Annotator: match by term: CDAN1-related condition | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia
DNA:missense mutation:cds:p.R1042W (human)
DNA:missense mutations, frameshift mutations, nonsense mutation:cds:multiple
DNA:mutations:multiple		 ClinVar
OMIM
RGD		 PMID:9536098 PMID:12434312 PMID:12825070 PMID:16098079 PMID:16141353 More... RGD:1600473, RGD:40903077, RGD:40903076, RGD:40903075 NCBI chr 3:107,675,147...107,689,811
Ensembl chr 3:107,673,645...107,689,773 		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 ClinVar Annotator: match by term: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib | ClinVar Annotator: match by term: CDA, TYPE Ib | ClinVar Annotator: match by term: CDIN1-related condition OMIM
ClinVar		 PMID:9220189 PMID:16643456 PMID:23716552 PMID:25741868 PMID:28492532 More... NCBI chr 3:102,441,553...102,646,935
Ensembl chr 3:102,441,704...102,646,682 		JBrowse link
congenital dyserythropoietic anemia type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Banf2 BANF family member 2 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:131,387,107...131,442,837
Ensembl chr 3:131,388,130...131,442,832 		JBrowse link
G Dzank1 double zinc ribbon and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:131,855,890...131,908,217
Ensembl chr 3:131,852,552...131,908,156 		JBrowse link
G Kat14 lysine acetyltransferase 14 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:131,736,430...131,781,732
Ensembl chr 3:131,736,549...131,781,706 		JBrowse link
G Mgme1 mitochondrial genome maintenance exonuclease 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:152,094,514...152,103,314
Ensembl chr 3:131,640,944...131,649,932 		JBrowse link
G Ovol2 ovo-like zinc finger 2 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:152,130,767...152,160,487
Ensembl chr 3:131,677,391...131,708,359 		JBrowse link
G Pet117 PET117 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532
G Polr3f RNA polymerase III subunit F ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:152,361,798...152,378,169
Ensembl chr 3:131,908,466...131,924,837 		JBrowse link
G Rbbp9 RB binding protein 9, serine hydrolase ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:152,378,426...152,392,370
Ensembl chr 3:131,925,341...131,932,156 		JBrowse link
G Rrbp1 ribosome binding protein 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:151,768,386...151,830,255
Ensembl chr 3:131,314,998...131,376,981 		JBrowse link
G Sec23b Sec23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, HEMPAS TYPE | ClinVar Annotator: match by term: HEMPAS anemia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19561605 PMID:19621418 More... NCBI chr 3:152,392,340...152,434,813
Ensembl chr 3:131,939,337...131,981,489 		JBrowse link
G Snx5 sorting nexin 5 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:152,075,258...152,094,508
Ensembl chr 3:131,621,880...131,641,192 		JBrowse link
G Zfp133 zinc finger protein 133 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:131,829,404...131,847,552
Ensembl chr 3:131,829,404...131,847,550 		JBrowse link
congenital dyserythropoietic anemia type IIIa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif23 kinesin family member 23 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type III | ClinVar Annotator: match by term: KIF23-related condition OMIM
ClinVar		 PMID:9536098 PMID:13867810 PMID:14886400 PMID:17576681 PMID:23570799 More... NCBI chr 8:71,293,439...71,321,911
Ensembl chr 8:62,397,948...62,425,072 		JBrowse link
congenital dyserythropoietic anemia type IIIb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Racgap1 Rac GTPase-activating protein 1 ISO ClinVar Annotator: match by term: Anemia, congenital dyserythropoietic, type IIIb | ClinVar Annotator: match by term: Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive OMIM
ClinVar		 PMID:34818416 PMID:36200420 NCBI chr 7:132,629,789...132,659,738
Ensembl chr 7:130,750,936...130,780,831 		JBrowse link
congenital dyserythropoietic anemia type IVa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: CDA, TYPE IVa ClinVar PMID:7795610 PMID:9536098 PMID:11825066 PMID:17576681 PMID:25741868 More... NCBI chr19:40,168,038...40,174,536
Ensembl chr19:23,263,264...23,269,681 		JBrowse link
G Klf1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL, WITH HEREDITARY PERSISTENCE OF FETAL AND EMBRYONIC HEMOGLOBIN | ClinVar Annotator: match by term: CDA, TYPE IVa | ClinVar Annotator: match by term: Congenital dyserythropoietic anemia type 4 | ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type IV | ClinVar Annotator: match by term: KLF1-related condition OMIM
ClinVar		 PMID:1659863 PMID:7795610 PMID:9536098 PMID:11825066 PMID:17576681 More... NCBI chr19:40,155,476...40,158,651
Ensembl chr19:23,250,631...23,253,758 		JBrowse link
congenital dyserythropoietic anemia type IVb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klf1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IVb | ClinVar Annotator: match by term: CDA, TYPE IVb ClinVar
OMIM		 PMID:18487511 PMID:24443441 PMID:25724378 PMID:28361594 PMID:28492532 More... NCBI chr19:40,155,476...40,158,651
Ensembl chr19:23,250,631...23,253,758 		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 chr18:80,487,923...80,520,544
Ensembl chr18:78,202,342...78,258,535
Ensembl chr18:78,202,342...78,258,535 		JBrowse link
G Cyb5r3 cytochrome b5 reductase 3 ISO ClinVar Annotator: match by term: Hereditary methemoglobinemia ClinVar PMID:10807796 PMID:11159544 PMID:11295830 PMID:12756024 PMID:16310381 More... NCBI chr 7:116,186,729...116,204,290
Ensembl chr 7:114,306,685...114,324,298 		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 3:36,310,113...36,320,760
Ensembl chr 3:15,912,485...15,923,041 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO DNA:point mutations:exon:637G>T, 1178G>A, 1089C>A (human)
CTD Direct Evidence: marker/mechanism
DNA:point mutations: :1376G>T, 1502T>G (human)		 CTD
RGD		 PMID:4125296 PMID:10666231 PMID:1999409 PMID:24923766 RGD:1599812, RGD:10449107 NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO
ISS		 OMIM:206300 | OMIM:206400 | OMIM:300908 | OMIM:613470
DNA:mutations:cds:		 MouseDO
RGD		 PMID:17041899 PMID:8417789 PMID:9446754 RGD:1600633, RGD:11051955, RGD:11051849 NCBI chr 1:95,965,389...95,996,932
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU ClinVar PMID:8280608 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:158,120,200...158,252,012 		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:1601519, RGD:11353878 NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
G Nt5c3a 5'-nucleotidase, cytosolic IIIA ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672222 NCBI chr 4:87,491,828...87,534,838
Ensembl chr 4:86,161,643...86,204,628 		JBrowse link
G Pklr pyruvate kinase L/R ISO DNA:missense mutations:cds:p.A468V, p.I314T (human)
DNA:snp:promoter:g.-72A>G (human)
DNA:missense mutation:cds:p.R479H (human)
DNA:missense mutations:cds:p.T384M, p.Q421K (human)		 RGD PMID:7949104 PMID:11054094 PMID:8161798 PMID:1536957 RGD:11535979, RGD:11535987, RGD:11535983, RGD:11535981 NCBI chr 2:176,840,779...176,849,637
Ensembl chr 2:174,543,039...174,551,870 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8503454 NCBI chr 4:159,301,558...159,305,088
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
congenital nonspherocytic hemolytic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 1 ClinVar
OMIM		 PMID:5448 PMID:16832 PMID:736032 PMID:848857 PMID:853376 More... NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 1 ClinVar PMID:1945893 PMID:3198117 PMID:6805883 PMID:7803800 PMID:8244337 More... NCBI chr  X:157,358,279...157,397,563
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
congenital nonspherocytic hemolytic anemia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsr glutathione-disulfide reductase ISO ClinVar Annotator: match by term: GSR-related condition | ClinVar Annotator: match by term: Hemolytic anemia due to glutathione reductase deficiency OMIM
ClinVar		 PMID:435643 PMID:947404 PMID:17185460 PMID:25741868 PMID:28492532 More... NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
congenital nonspherocytic hemolytic anemia 2 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 PMID:25741868 NCBI chr 2:176,849,635...176,867,726
Ensembl chr 2:174,551,680...174,565,966 		JBrowse link
G Pklr pyruvate kinase L/R ISO
ISS		 ClinVar Annotator: match by term: PKLR-related condition | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
OMIM:266200
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G338D (mouse)
associated with Anemia, Hemolytic;DNA:mutations:multiple (human)
human gene complementing mouse knockout		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1536957 PMID:1670447 PMID:1896471 PMID:1937486 PMID:2018831 More... RGD:11537470, RGD:11537382, RGD:11535996 NCBI chr 2:176,840,779...176,849,637
Ensembl chr 2:174,543,039...174,551,870 		JBrowse link
congenital nonspherocytic hemolytic anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak1 adenylate kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic anemia due to adenylate kinase deficiency		 OMIM
CTD
ClinVar		 PMID:2542324 PMID:9432020 PMID:10233365 PMID:12649162 PMID:15315793 More... NCBI chr 3:36,310,113...36,320,760
Ensembl chr 3:15,912,485...15,923,041 		JBrowse link
congenital nonspherocytic hemolytic anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpi glucose-6-phosphate isomerase ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 4 | ClinVar Annotator: match by term: GPI-related condition | ClinVar Annotator: match by term: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency OMIM
ClinVar		 PMID:4076245 PMID:7989588 PMID:8499925 PMID:8822952 PMID:8822954 More... NCBI chr 1:95,965,389...95,996,932
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
congenital nonspherocytic hemolytic anemia 5 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: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 5 | ClinVar Annotator: match by term: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY OMIM
ClinVar		 PMID:6848140 PMID:7655856 PMID:11783948 PMID:12211198 PMID:12393545 More... NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
congenital nonspherocytic hemolytic anemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gss glutathione synthetase ISO ClinVar Annotator: match by term: Glutathione synthetase deficiency without 5-oxoprolinuria OMIM
ClinVar		 PMID:5476481 PMID:8896573 PMID:9215686 PMID:10369661 PMID:10861239 More... NCBI chr 3:164,508,005...164,538,343
Ensembl chr 3:144,047,850...144,078,198 		JBrowse link
congenital nonspherocytic hemolytic anemia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gclc glutamate-cysteine ligase, catalytic subunit susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gamma-glutamylcysteine synthetase deficiency		 CTD
OMIM
ClinVar		 PMID:5901982 PMID:10515893 PMID:10733484 PMID:25741868 PMID:28492532 NCBI chr 8:87,510,251...87,548,896
Ensembl chr 8:78,630,127...78,668,544 		JBrowse link
congenital nonspherocytic hemolytic anemia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nt5c3a 5'-nucleotidase, cytosolic IIIA ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: UMPH1 DEFICIENCY | ClinVar Annotator: match by term: Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to		 OMIM
CTD
ClinVar		 PMID:6310729 PMID:11369620 PMID:12714505 PMID:12930399 PMID:15238149 More... NCBI chr 4:87,491,828...87,534,838
Ensembl chr 4:86,161,643...86,204,628 		JBrowse link
congenital nonspherocytic hemolytic anemia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 9 | ClinVar Annotator: match by term: Adenosine deaminase, elevated, hemolytic anemia due to OMIM
ClinVar		 PMID:3164080 PMID:25741868 PMID:28492532 PMID:35030251 NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:14,529,702...14,537,530 		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
ClinVar Annotator: match by term: DESICCYTOSIS GARDOS		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 1:89,084,306...89,102,279
Ensembl chr 1:79,959,322...79,974,340 		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 1 with or without pseudohyperkalemia and/or perinatal edema ClinVar PMID:25741868 NCBI chr 1:89,084,306...89,102,279
Ensembl chr 1:79,959,322...79,974,340 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 More... NCBI chr19:67,453,120...67,515,347
Ensembl chr19:50,544,582...50,606,501 		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 ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 2 | ClinVar Annotator: match by term: KCNN4-related condition OMIM
ClinVar		 PMID:652816 PMID:687829 PMID:4851153 PMID:6473461 PMID:11323678 More... NCBI chr 1:89,084,306...89,102,279
Ensembl chr 1:79,959,322...79,974,340 		JBrowse link
delta beta-thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap2a2 adaptor related protein complex 2 subunit alpha 2 ISO ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin ClinVar PMID:2798417 NCBI chr 1:206,081,856...206,155,146
Ensembl chr 1:196,652,337...196,725,603 		JBrowse link
G Art1 ADP-ribosyltransferase 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:156,478,096...156,487,172
Ensembl chr 1:156,482,621...156,487,172 		JBrowse link
G Art5 ADP-ribosyltransferase 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:156,473,362...156,483,324
Ensembl chr 1:156,473,362...156,483,324 		JBrowse link
G Ascl2 achaete-scute family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,578,447...207,665,126
Ensembl chr 1:198,148,999...198,151,406 		JBrowse link
G Brsk2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:197,035,505...197,088,624
Ensembl chr 1:197,035,633...197,088,092 		JBrowse link
G Cars1 cysteinyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:208,183,092...208,225,425
Ensembl chr 1:198,753,691...198,795,941 		JBrowse link
G Cd151 CD151 molecule (Raph blood group) ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,994,300...205,998,307
Ensembl chr 1:196,565,181...196,568,753 		JBrowse link
G Cd81 Cd81 molecule ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,665,274...207,681,094
Ensembl chr 1:198,241,484...198,251,660 		JBrowse link
G Cdhr5 cadherin-related family member 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,373,110...196,381,609
Ensembl chr 1:196,373,112...196,381,543 		JBrowse link
G Cdkn1c cyclin-dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin ClinVar PMID:2798417 NCBI chr 1:208,084,801...208,087,680
Ensembl chr 1:198,655,407...198,658,048 		JBrowse link
G Cend1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,525,153...196,528,152
Ensembl chr 1:196,523,920...196,528,302 		JBrowse link
G Chid1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,594,357...196,629,700
Ensembl chr 1:196,587,509...196,629,606 		JBrowse link
G Chrna10 cholinergic receptor nicotinic alpha 10 subunit ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:165,898,932...165,905,348
Ensembl chr 1:156,487,279...156,491,476 		JBrowse link
G Cracr2b calcium release activated channel regulator 2B ISO ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin ClinVar PMID:2798417 NCBI chr 1:196,558,407...196,563,961
Ensembl chr 1:196,558,588...196,563,771 		JBrowse link
G Ctsd cathepsin D ISO ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin ClinVar PMID:2798417 NCBI chr 1:206,956,945...206,968,821
Ensembl chr 1:197,527,467...197,539,488 		JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,831,428...205,865,106
Ensembl chr 1:196,401,857...196,435,541 		JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,825,937...205,829,124
Ensembl chr 1:196,396,366...196,399,553 		JBrowse link
G Dusp8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin ClinVar PMID:2798417 NCBI chr 1:197,167,392...197,184,285
Ensembl chr 1:197,169,422...197,182,921 		JBrowse link
G Eps8l2 EPS8 signaling adaptor L2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,446,260...196,471,544
Ensembl chr 1:196,446,287...196,471,541 		JBrowse link
G Gatd1 glutamine amidotransferase class 1 domain containing 1 ISO ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin ClinVar PMID:2798417 NCBI chr 1:205,936,189...205,942,121
Ensembl chr 1:196,504,833...196,512,551 		JBrowse link
G H19 H19 imprinted maternally expressed transcript ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,160,175...207,162,851
Ensembl chr 1:197,730,698...197,733,134 		JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Delta-beta-thalassemia | ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin | ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta OMIM
ClinVar		 PMID:14973 PMID:81926 PMID:88735 PMID:750553 PMID:893136 More... NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Delta-beta-thalassemia | ClinVar Annotator: match by term: Delta-plus-thalassemia | ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 PMID:9207479 PMID:11939506 PMID:15921167 PMID:16434382 More... NCBI chr 1:158,224,175...158,231,675
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Hbe1 hemoglobin subunit epsilon 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:158,282,931...158,458,855
Ensembl chr 1:158,282,936...158,284,391 		JBrowse link
G Hbg1 hemoglobin subunit gamma 1 ISO ClinVar Annotator: match by term: Fetal hemoglobin, a-gamma type, reduction in | ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin | ClinVar Annotator: match by term: Sardinian HPFH | ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta OMIM
ClinVar		 PMID:291015 PMID:808940 PMID:811241 PMID:939551 PMID:1373683 More... NCBI chr 1:167,683,760...167,685,315
Ensembl chr 1:158,271,873...158,273,425 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Ifitm10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin ClinVar PMID:2798417 NCBI chr 1:197,507,501...197,524,180
Ensembl chr 1:197,507,503...197,525,151 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:251,244,973...251,245,536 		JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,796,956...205,800,543
Ensembl chr 1:196,367,361...196,370,832 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
G Krtap5-1 keratin associated protein 5-1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:197,278,886...197,279,893 JBrowse link
G Lmntd2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,315,112...196,320,880
Ensembl chr 1:196,315,115...196,319,156 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Lsp1 lymphocyte-specific protein 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,044,157...207,077,891
Ensembl chr 1:197,614,687...197,648,416 		JBrowse link
G Mir210 microRNA 210 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,755,923...205,756,032
Ensembl chr 1:196,326,337...196,326,454 		JBrowse link
G Mir675 microRNA 675 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,161,752...207,161,835
Ensembl chr 1:197,732,275...197,732,358 		JBrowse link
G Mob2 MOB kinase activator 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:197,092,991...197,149,978
Ensembl chr 1:197,092,994...197,149,933 		JBrowse link
G Mrgpre MAS related GPR family member E ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:208,393,141...208,401,252
Ensembl chr 1:198,963,787...198,969,521 		JBrowse link
G Mrgprg MAS related GPR family member G ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:208,377,008...208,380,916
Ensembl chr 1:198,947,229...198,951,517 		JBrowse link
G Mrpl23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:197,687,452...197,695,222
Ensembl chr 1:197,687,347...197,695,222 		JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:206,225,775...206,261,280
Ensembl chr 1:196,799,517...196,831,756 		JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:206,293,717...206,326,006
Ensembl chr 1:196,864,336...196,896,475 		JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250 		JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin ClinVar PMID:2798417 NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842 		JBrowse link
G Nap1l4 nucleosome assembly protein 1-like 4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:198,709,697...198,746,093
Ensembl chr 1:198,709,701...198,746,020 		JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:165,906,405...166,003,366
Ensembl chr 1:156,494,423...156,591,415 		JBrowse link
G Olr59 olfactory receptor 59 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,604,972...166,639,634
Ensembl chr 1:157,193,080...157,211,179 		JBrowse link
G Or51a41 olfactory receptor family 51 subfamily A member 41 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,866,293...166,867,300
Ensembl chr 1:157,454,041...157,456,953 		JBrowse link
G Or51a7 olfactory receptor family 51 subfamily A member 7 ISO ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin ClinVar PMID:2798417 NCBI chr 1:166,805,392...166,809,420
Ensembl chr 1:157,395,779...157,396,717 		JBrowse link
G Or51d1 olfactory receptor family 51 subfamily D member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,546,510...166,547,567
Ensembl chr 1:157,134,673...157,135,641 		JBrowse link
G Or51e1 olfactory receptor family 51 subfamily E member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,554,112...166,564,147
Ensembl chr 1:157,142,352...157,149,671 		JBrowse link
G Or51f1 olfactory receptor family 51 subfamily F member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,690,570...166,691,529
Ensembl chr 1:157,278,472...157,281,269 		JBrowse link
G Or51f2 olfactory receptor family 51 subfamily F member 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,704,259...166,705,209
Ensembl chr 1:157,292,342...157,293,292 		JBrowse link
G Or51f23c olfactory receptor family 51 subfamily F member 23C ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,643,388...166,644,338
Ensembl chr 1:157,231,467...157,232,417 		JBrowse link
G Or51g1 olfactory receptor family 51 subfamily G member 1 ISO ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin ClinVar PMID:2798417 NCBI chr 1:166,850,033...166,850,974
Ensembl chr 1:157,437,827...157,443,743 		JBrowse link
G Or51g2 olfactory receptor family 51 subfamily G member 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,833,547...166,834,485
Ensembl chr 1:157,421,637...157,422,575 		JBrowse link
G Or51l1 olfactory receptor family 51 subfamily L member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,928,111...166,929,058
Ensembl chr 1:157,516,210...157,517,157 		JBrowse link
G Or51s1 olfactory receptor family 51 subfamily S member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,727,310...166,728,236
Ensembl chr 1:157,311,739...157,324,920 		JBrowse link
G Or51t1 olfactory receptor, family 51, subfamily T, member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,782,305...166,783,345
Ensembl chr 1:157,370,424...157,371,434 		JBrowse link
G Or51v8b olfactory receptor family 51 subfamily V member 8B ISO ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin ClinVar PMID:2798417 NCBI chr 1:167,399,672...167,400,616
Ensembl chr 1:157,987,781...157,988,725 		JBrowse link
G Or52a5 olfactory receptor family 52 subfamily A member 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:167,594,870...167,595,817
Ensembl chr 1:158,178,671...158,184,929 		JBrowse link
G Or52a5b olfactory receptor family 52 subfamily A member 5B ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:167,572,790...167,573,740
Ensembl chr 1:158,160,267...158,166,607 		JBrowse link
G Or52b4 olfactory receptor family 52 subfamily B member 4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,351,005...166,351,946
Ensembl chr 1:156,939,068...156,940,009 		JBrowse link
G Or52e2 olfactory receptor family 52 subfamily E member 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,972,967...166,973,920
Ensembl chr 1:157,561,070...157,562,023 		JBrowse link
G Or52e51 olfactory receptor family 52 subfamily E member 51 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:167,068,794...167,069,732
Ensembl chr 1:157,652,403...157,658,106 		JBrowse link
G Or52i2 olfactory receptor family 52 subfamily I member 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,517,118...166,518,080
Ensembl chr 1:157,105,189...157,106,151 		JBrowse link
G Or52j3 olfactory receptor family 52 subfamily J member 3 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:167,017,079...167,018,017 JBrowse link
G Or52k1 olfactory receptor family 52 subfamily K member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,449,318...166,450,262
Ensembl chr 1:157,037,381...157,038,325 		JBrowse link
G Or52k2 olfactory receptor family 52 subfamily K member 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,438,782...166,439,735
Ensembl chr 1:157,026,845...157,027,798 		JBrowse link
G Or52m1 olfactory receptor family 52 subfamily M member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,477,144...166,478,097
Ensembl chr 1:157,065,217...157,066,170 		JBrowse link
G Or52r1c olfactory receptor family 52 subfamily R member 1C ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,887,023...166,887,967
Ensembl chr 1:157,471,250...157,476,301 		JBrowse link
G Osbpl5 oxysterol binding protein-like 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:198,862,071...198,916,469
Ensembl chr 1:198,862,055...198,916,469 		JBrowse link
G Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,003,593...166,030,088
Ensembl chr 1:156,591,615...156,618,114 		JBrowse link
G Phlda2 pleckstrin homology-like domain, family A, member 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:208,126,302...208,127,241
Ensembl chr 1:198,696,897...198,697,836 		JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892 		JBrowse link
G Pidd1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,966,392...205,972,359
Ensembl chr 1:196,536,834...196,542,699 		JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,982,279...205,987,361
Ensembl chr 1:196,552,723...196,557,805 		JBrowse link
G Polr2l RNA polymerase II, I and III subunit L ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,999,607...206,001,615
Ensembl chr19:8,335,702...8,335,905 		JBrowse link
G Prr33 proline rich 33 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:197,644,903...197,650,774
Ensembl chr 1:197,644,902...197,650,714 		JBrowse link
G Rassf7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,319,600...196,323,787
Ensembl chr 1:196,320,902...196,323,770 		JBrowse link
G Rhog ras homolog family member G ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:156,618,713...156,630,710
Ensembl chr 1:156,615,349...156,631,257 		JBrowse link
G Rnh1 ribonuclease/angiogenin inhibitor 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,269,293...196,281,763
Ensembl chr 1:196,269,293...196,281,910 		JBrowse link
G Rplp2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,546,086...196,548,636
Ensembl chr 1:196,546,352...196,548,645 		JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,235,904...166,260,206
Ensembl chr 1:156,823,960...156,848,261 		JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,812,435...205,813,246
Ensembl chr 1:196,382,856...196,383,658 		JBrowse link
G Slc22a18 solute carrier family 22, member 18 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:208,100,032...208,124,382
Ensembl chr 1:198,671,731...198,694,975 		JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331 		JBrowse link
G Snora52 small nucleolar RNA, H/ACA box 52 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,547,488...196,547,621
Ensembl chr 1:196,547,488...196,547,621 		JBrowse link
G Snora54 small nucleolar RNA, H/ACA box 54 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:198,727,462...198,727,588
Ensembl chr 1:198,727,462...198,727,588 		JBrowse link
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,067,450...166,230,733
Ensembl chr 1:156,656,013...156,818,363 		JBrowse link
G Syt8 synaptotagmin 8 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,017,602...207,023,076
Ensembl chr 1:197,590,149...197,593,504 		JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,923,196...205,933,526
Ensembl chr 1:196,493,589...196,503,974 		JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,435,999...196,444,368
Ensembl chr 1:196,436,003...196,444,367
Ensembl chr 1:196,436,003...196,444,367 		JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:206,882,358...207,027,034
Ensembl chr 1:197,594,813...197,597,560 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,082,014...207,099,014
Ensembl chr 1:197,652,431...197,669,535 		JBrowse link
G Tollip toll interacting protein ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:206,391,120...206,413,809
Ensembl chr 1:196,950,771...196,983,625 		JBrowse link
G Trim21 tripartite motif-containing 21 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,376,829...166,399,441
Ensembl chr 1:156,964,913...156,987,440 		JBrowse link
G Trim68 tripartite motif containing 68 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,525,981...166,539,407
Ensembl chr 1:157,114,044...157,127,477 		JBrowse link
G Trpm5 transient receptor potential cation channel, subfamily M, member 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,684,811...207,707,380
Ensembl chr 1:198,255,723...198,277,654 		JBrowse link
G Tspan32 tetraspanin 32 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,619,566...207,633,885
Ensembl chr 1:198,190,164...198,204,445 		JBrowse link
G Tspan4 tetraspanin 4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:206,001,731...206,021,414
Ensembl chr 1:196,572,228...196,617,448 		JBrowse link
G Tssc4 tumor suppressing subtransferable candidate 4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,681,420...207,684,244
Ensembl chr 1:198,235,487...198,254,980 		JBrowse link
Delta-Thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Delta-0-thalassemia | ClinVar Annotator: match by term: delta Thalassemia ClinVar PMID:1301204 PMID:1309671 PMID:1398286 PMID:1515647 PMID:1742490 More... NCBI chr 1:158,224,175...158,231,675
Ensembl chr 1:158,120,200...158,252,012 		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 ClinVar Annotator: match by term: Elliptocytosis 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1430200 PMID:2384597 PMID:2384598 PMID:3134067 PMID:3194408 More... NCBI chr 5:149,394,080...149,548,178
Ensembl chr 5:144,111,906...144,237,821 		JBrowse link
Elliptocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Or10z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Elliptocytosis 2 ClinVar PMID:25741868 NCBI chr13:88,813,861...88,814,802
Ensembl chr13:86,278,626...86,283,642 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE | ClinVar Annotator: match by term: Elliptocytosis 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1191563 PMID:1353056 PMID:1541680 PMID:1638030 PMID:1642244 More... NCBI chr13:88,735,833...88,811,697
Ensembl chr13:86,203,504...86,279,371 		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 ClinVar Annotator: match by term: ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL | ClinVar Annotator: match by term: Elliptocytosis 3 OMIM
ClinVar		 PMID:1391962 PMID:1498324 PMID:7883966 PMID:8667615 PMID:8844207 More... NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: COX4I2-related condition | ClinVar Annotator: match by term: Pancreatic insufficiency-anemia-hyperostosis syndrome
DNA:mutation:cds:c.412G>A (p.E138K)(human)		 OMIM
CTD
ClinVar
RGD		 PMID:19268275 PMID:25741868 PMID:28492532 PMID:19268275 RGD:11344905 NCBI chr 3:161,686,193...161,699,605
Ensembl chr 3:141,228,443...141,239,331 		JBrowse link
favism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,579,669...156,601,448
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,787,566...156,802,841
Ensembl chr  X:151,632,454...151,651,128 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:156,367,582...156,464,085
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,231,243...157,238,323
Ensembl chr  X:152,079,865...152,087,034 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,785,009...156,787,477
Ensembl chr  X:151,633,522...151,635,989 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,548,911...156,581,002
Ensembl chr  X:151,397,576...151,428,506 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:156,348,633...156,360,797
Ensembl chr  X:151,197,273...151,209,461 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr 9:2,073,927...2,076,469
Ensembl chr 9:1,986,575...1,991,080 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961 		JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr20:154,630...169,655
Ensembl chr20:148,907...164,355 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160 		JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:143,531,907...143,533,201
Ensembl chr  X:143,531,907...143,533,201 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,751,651...157,757,796 JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:151,351,897...151,355,822
Ensembl chr  X:151,351,897...151,355,821 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,190,438...157,193,479
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr18:155,237...187,186
Ensembl chr18:140,955...171,857 		JBrowse link
G F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:150,957,357...150,958,871
Ensembl chr  X:150,916,679...150,960,168 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,317,993...157,326,640
Ensembl chr  X:152,165,535...152,175,362 		JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:152,095,245...152,102,362
Ensembl chr  X:152,095,245...152,102,362 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Favism, susceptibility to | ClinVar Annotator: match by term: G6PD A- | ClinVar Annotator: match by term: G6PD MINNESOTA | ClinVar Annotator: match by term: G6PD SANTIAGO | ClinVar Annotator: match by term: G6PD SANTIAGO DE CUBA | ClinVar Annotator: match by term: G6PD SERRES
ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Favism, susceptibility to | ClinVar Annotator: match by term: G6PD A- | ClinVar Annotator: match by term: G6PD MALAGA | ClinVar Annotator: match by term: G6PD MINNESOTA | ClinVar Annotator: match by term: G6PD SANTIAGO | ClinVar Annotator: match by term: G6PD SANTIAGO DE CUBA | ClinVar Annotator: match by term: G6PD SERRES		 CTD
ClinVar
MouseDO		 PMID:5448 PMID:16832 PMID:511159 PMID:736032 PMID:835572 More... NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,238,900...157,245,562
Ensembl chr  X:152,087,444...152,094,272 		JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:82,362,531...82,363,105
Ensembl chr  X:82,362,633...82,362,983 		JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:151,154,979...151,174,441
Ensembl chr  X:151,154,979...151,180,577 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,839,100...156,864,132
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,666,573...156,675,482
Ensembl chr  X:151,515,247...151,524,171 		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: G6PD A- ClinVar PMID:1945893 PMID:3198117 PMID:6805883 PMID:7803800 PMID:8244337 More... NCBI chr  X:157,358,279...157,397,563
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,919,927...156,929,825
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,748,597...156,775,116
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532
G Mtcp1 mature T-cell proliferation 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr18:126,189...130,123 JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,807,378...156,812,632
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:155,817,301...155,848,224
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,056,355...157,076,716
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,681,717...156,712,031
Ensembl chr  X:151,530,390...151,560,826 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,266,986...157,282,896
Ensembl chr  X:152,115,819...152,131,603 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,645,505...156,660,011
Ensembl chr  X:151,494,207...151,508,674 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:156,520,751...156,524,828
Ensembl chr  X:151,369,410...151,373,446 		JBrowse link
G Pnma3 PNMA family member 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:150,906,080...150,912,674
Ensembl chr  X:150,906,278...150,910,839 		JBrowse link
G Pnma5 PNMA family member 5 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:155,923,131...155,925,055
Ensembl chr  X:150,880,865...150,882,789 		JBrowse link
G Pnma6e PNMA family member 6E ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:151,103,531...151,108,630
Ensembl chr  X:151,103,755...151,106,037 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,812,785...156,821,860
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,205,850...157,208,057
Ensembl chr  X:152,054,452...152,056,761 		JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:152,154,757...152,158,563
Ensembl chr  X:152,151,076...152,162,958 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,536,017...156,545,321
Ensembl chr  X:151,384,675...151,393,979 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,661,888...156,666,537
Ensembl chr  X:151,510,539...151,515,198 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,675,658...156,679,545
Ensembl chr  X:151,524,009...151,528,202 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,076,824...157,110,988
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,105,455...157,138,510
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:151,151,862...151,153,470
Ensembl chr  X:151,151,864...151,153,479 		JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,302,528...157,305,380
Ensembl chr  X:152,151,460...152,154,069 		JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532
G Zfp185 zinc finger protein 185 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:150,831,869...150,877,652
Ensembl chr  X:150,831,862...150,874,810 		JBrowse link
G Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:151,116,794...151,142,451
Ensembl chr  X:151,117,102...151,143,177 		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: G6PD deficiency | ClinVar Annotator: match by term: Glucose 6 phosphate dehydrogenase deficiency | ClinVar Annotator: match by term: Hemolytic anemia due to G6PD deficiency		 CTD
ClinVar		 PMID:5448 PMID:16832 PMID:472761 PMID:736032 PMID:848857 More... NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Ifng interferon gamma ISO DNA:SNP: :874A>T (human) RGD PMID:15718915 RGD:11049178 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: G6PD deficiency ClinVar PMID:1945893 PMID:3198117 PMID:6805883 PMID:7803800 PMID:8244337 More... NCBI chr  X:157,358,279...157,397,563
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G Il10 interleukin 10 no_association ISO DNA:SNP:promoter:-592A>C (human)
DNA:SNPs:promoter:-1082G>A, -819T>C (human)		 RGD PMID:15718915 PMID:15718915 RGD:11049178, RGD:11049178 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il6 interleukin 6 ISO DNA:SNP:promoter:-174G>C (human) RGD PMID:15718915 RGD:11049178 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO protein:increased phosphorylation:erythrocyte (human) RGD PMID:21246053 RGD:10450516 NCBI chr10:87,807,010...87,823,274
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
Glyoxalase II Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hagh hydroxyacyl glutathione hydrolase ISO OMIM NCBI chr10:14,379,400...14,394,046
Ensembl chr10:13,875,241...13,889,504 		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 ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia
DNA:mutations:cds:multiple (human)		 OMIM
ClinVar
RGD		 PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More... RGD:9588626 NCBI chr13:96,071,058...96,095,709
Ensembl chr13:93,538,920...93,564,017 		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 chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Heinz body anemia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1634361 PMID:1686260 PMID:1787098 PMID:2298455 PMID:2468982 More... NCBI chr10:15,828,291...15,829,138
Ensembl chr10:15,307,815...15,338,392
Ensembl chr10:15,307,815...15,338,392 		JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: Heinz body anemia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:13856 PMID:620088 PMID:1155453 PMID:1281602 PMID:1581238 More... NCBI chr10:15,816,099...15,816,943
Ensembl chr10:15,311,634...15,312,481 		JBrowse link
G Hbb hemoglobin subunit beta ISO DNA:deletion:CDS:p.F41del, p.F42del (human)
ClinVar Annotator: match by term: HEMOGLOBIN BRISTOL | ClinVar Annotator: match by term: Heinz body anemia | ClinVar Annotator: match by term: Heinz body hemolytic anemia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:14973 PMID:81926 PMID:88735 PMID:186485 PMID:711920 More... RGD:1600889 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
hemoglobin C disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN C ClinVar
RGD		 PMID:1680789 PMID:2030155 PMID:2239966 PMID:2412200 PMID:2888754 More... RGD:1600890 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
hemoglobin D disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA) | ClinVar Annotator: match by term: Hemoglobin D disease ClinVar PMID:750553 PMID:1177278 PMID:1244906 PMID:2079437 PMID:2307460 More... NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
hemoglobin E disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Hemoglobin E disease ClinVar PMID:1960615 PMID:3031297 PMID:4351905 PMID:5658717 PMID:5863839 More... NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
hemoglobin H disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: HEMOGLOBIN H DISEASE, DELETIONAL | ClinVar Annotator: match by term: Hemoglobin H disease | ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional OMIM
ClinVar		 PMID:1634361 PMID:1686260 PMID:1787098 PMID:2298455 PMID:2468982 More... NCBI chr10:15,828,291...15,829,138
Ensembl chr10:15,307,815...15,338,392
Ensembl chr10:15,307,815...15,338,392 		JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: HEMOGLOBIN H DISEASE, DELETIONAL | ClinVar Annotator: match by term: Hemoglobin H disease | ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional OMIM
ClinVar		 PMID:13856 PMID:1281602 PMID:1581238 PMID:1634361 PMID:1686260 More... NCBI chr10:15,816,099...15,816,943
Ensembl chr10:15,311,634...15,312,481 		JBrowse link
Hemoglobin M Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN M (SASKATOON) ClinVar PMID:1163074 PMID:4086306 PMID:4301455 PMID:4413625 PMID:4841979 More... NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
Hemoglobin SC Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Sickle cell-hemoglobin C disease ClinVar PMID:81926 PMID:909565 PMID:1301203 PMID:1376298 PMID:1680789 More... NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
hemoglobinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: HEMOGLOBIN ADANA | ClinVar Annotator: match by term: HEMOGLOBIN AGHIA SOPHIA | ClinVar Annotator: match by term: HEMOGLOBIN BUFFALO | ClinVar Annotator: match by term: HEMOGLOBIN HOPKINS 2 | ClinVar Annotator: match by term: HEMOGLOBIN J (BROUSSAIS) | ClinVar Annotator: match by term: HEMOGLOBIN OLIVIERE ClinVar PMID:646867 PMID:740406 PMID:943846 PMID:4503918 PMID:4503919 More... NCBI chr10:15,828,291...15,829,138
Ensembl chr10:15,307,815...15,338,392
Ensembl chr10:15,307,815...15,338,392 		JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: Abnormal hemoglobin | ClinVar Annotator: match by term: HEMOGLOBIN AGRINIO | ClinVar Annotator: match by term: HEMOGLOBIN CLINICO-MADRID | ClinVar Annotator: match by term: HEMOGLOBIN ICARIA | ClinVar Annotator: match by term: HEMOGLOBIN MONTGOMERY | ClinVar Annotator: match by term: HEMOGLOBIN SALLANCHES | ClinVar Annotator: match by term: HEMOGLOBIN SEAL ROCK | ClinVar Annotator: match by term: HEMOGLOBIN SINAI | ClinVar Annotator: match by term: HEMOGLOBIN SUN PRAIRIE | ClinVar Annotator: match by term: Hemoglobin Val de Marne ClinVar PMID:486536 PMID:620088 PMID:1115799 PMID:1517104 PMID:2079430 More... NCBI chr10:15,816,099...15,816,943
Ensembl chr10:15,311,634...15,312,481 		JBrowse link
G Hbb hemoglobin subunit beta severity ISO ClinVar Annotator: match by term: HBB-related condition | ClinVar Annotator: match by term: HEMOGLOBIN ABRUZZO | ClinVar Annotator: match by term: HEMOGLOBIN ATHENS-GEORGIA | ClinVar Annotator: match by term: HEMOGLOBIN BEIRUT | ClinVar Annotator: match by term: HEMOGLOBIN BORAS | ClinVar Annotator: match by term: HEMOGLOBIN HIKARI | ClinVar Annotator: match by term: HEMOGLOBIN J (LOME) | ClinVar Annotator: match by term: HEMOGLOBIN K (WOOLWICH) | ClinVar Annotator: match by term: HEMOGLOBIN RALEIGH | ClinVar Annotator: match by term: HEMOGLOBIN SAALE | ClinVar Annotator: match by term: HEMOGLOBIN SHELBY | ClinVar Annotator: match by term: HEMOGLOBIN TENDE | ClinVar Annotator: match by term: HEMOGLOBIN TYNE | ClinVar Annotator: match by term: HEMOGLOBIN YUSA | ClinVar Annotator: match by term: Hemoglobinopathy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:8114 PMID:14597 PMID:20942 PMID:81926 PMID:88735 More... RGD:10449038 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Hemoglobinopathy ClinVar PMID:7510147 PMID:15315794 PMID:23491071 NCBI chr 1:158,224,175...158,231,675
Ensembl chr 1:158,120,200...158,252,012 		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
ISS		 ClinVar Annotator: match by term: Hereditary elliptocytosis
OMIM:130600 | OMIM:611804
associated with Myelodysplastic-Myeloproliferative Diseases		 ClinVar
MouseDO
RGD		 PMID:17994571 RGD:11252097 NCBI chr 5:149,394,080...149,548,178
Ensembl chr 5:144,111,906...144,237,821 		JBrowse link
G Or10z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Elliptocytosis ClinVar PMID:25741868 NCBI chr13:88,813,861...88,814,802
Ensembl chr13:86,278,626...86,283,642 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary
ClinVar Annotator: match by term: Elliptocytosis | ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary		 CTD
ClinVar
RGD		 PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 More... RGD:13208947 NCBI chr10:87,807,010...87,823,274
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO DNA:insertion:intron:
ClinVar Annotator: match by term: Elliptocytosis		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:11154235 RGD:11059523 NCBI chr13:88,735,833...88,811,697
Ensembl chr13:86,203,504...86,279,371 		JBrowse link
G Sptb spectrin, beta, erythrocytic ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Elliptocytosis		 CTD
ClinVar		 PMID:1975598 PMID:19538529 PMID:25741868 PMID:28492532 PMID:29396846 More... NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118 		JBrowse link
hereditary pyropoikilocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Or10z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary ClinVar PMID:25741868 NCBI chr13:88,813,861...88,814,802
Ensembl chr13:86,278,626...86,283,642 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1191563 PMID:1353056 PMID:1541680 PMID:1638030 PMID:1642244 More... NCBI chr13:88,735,833...88,811,697
Ensembl chr13:86,203,504...86,279,371 		JBrowse link
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118 		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 ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | 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:
DNA:mutation:exon:p.E924X(mouse) 		ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:8640229 More... RGD:1578350, RGD:11251681, RGD:11251680, RGD:11041609, RGD:11251676, RGD:11251675, RGD:11251674 NCBI chr16:68,876,294...69,054,963
Ensembl chr16:68,877,504...69,054,759 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:31,012,091...31,035,098
Ensembl chr 6:25,292,133...25,319,861 		JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:54,460,636...54,483,049
Ensembl chr19:37,558,177...37,591,654 		JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar
RGD		 PMID:28492532 PMID:1558976 RGD:1598910 NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO ClinVar Annotator: match by term: Hereditary spherocytosis ClinVar PMID:25741868 NCBI chr 1:95,965,389...95,996,932
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Klf1 KLF transcription factor 1 ISO
ISS		 DNA:missense mutation:exon:p.E339D (1065A>T) (human) MouseDO
RGD		 PMID:20691777 RGD:10769342 NCBI chr19:40,155,476...40,158,651
Ensembl chr19:23,250,631...23,253,758 		JBrowse link
G Or10z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar PMID:25741868 NCBI chr13:88,813,861...88,814,802
Ensembl chr13:86,278,626...86,283,642 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO DNA:duplication:cds: (human)
ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant
CTD Direct Evidence: marker/mechanism
mRNA:splicing error:intron:IVS8+1G>T (human)
DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human)
DNA:missense mutation:cds:p.G771D (human)		 ClinVar
CTD
RGD		 PMID:1378323 PMID:25741868 PMID:28492532 PMID:36231035 PMID:8282779 More... RGD:1599007, RGD:10450510, RGD:10450506, RGD:10450491 NCBI chr10:87,807,010...87,823,274
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO DNA:polymorphisms:introns,exon:
ClinVar Annotator: match by term: Congenital spherocytosis | ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Recessive
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | ClinVar Annotator: match by term: Spherocytosis, Recessive
DNA:deletion:cds:		 ClinVar
RGD		 PMID:2794061 PMID:3597773 PMID:8857939 PMID:8941647 PMID:15384986 More... RGD:11059521, RGD:11059522 NCBI chr13:88,735,833...88,811,697
Ensembl chr13:86,203,504...86,279,371 		JBrowse link
G Sptb spectrin, beta, erythrocytic ISO mRNA:decreased expression:erythrocyte:
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:8102379 PMID:19538529 PMID:25741868 PMID:28492532 PMID:29396846 More... RGD:11059526 NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118 		JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:80,311,269...80,321,678
Ensembl chr11:66,806,045...66,821,903 		JBrowse link
hereditary spherocytosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add2 adducin 2 ISS OMIM:182900 MouseDO NCBI chr 4:118,444,594...118,538,505
Ensembl chr 4:118,497,416...118,538,505 		JBrowse link
G Ank1 ankyrin 1 ISO
ISS		 ClinVar Annotator: match by term: ANK1-related condition | ClinVar Annotator: match by term: Hereditary spherocytosis type 1 | ClinVar Annotator: match by term: SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE
OMIM:182900
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1486040 PMID:7883994 PMID:8640229 PMID:9536098 PMID:9590147 More... NCBI chr16:68,876,294...69,054,963
Ensembl chr16:68,877,504...69,054,759 		JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISS OMIM:182900 MouseDO NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISS OMIM:182900 MouseDO NCBI chr13:88,735,833...88,811,697
Ensembl chr13:86,203,504...86,279,371 		JBrowse link
hereditary spherocytosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh2 myosin heavy chain 2 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 2 ClinVar PMID:25741868 NCBI chr10:51,856,738...51,883,236
Ensembl chr10:51,856,738...51,883,236 		JBrowse link
G Plekhg3 pleckstrin homology and RhoGEF domain containing G3 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition ClinVar PMID:25741868 NCBI chr 6:100,998,965...101,042,120
Ensembl chr 6:95,266,058...95,310,359 		JBrowse link
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition OMIM
ClinVar		 PMID:1391962 PMID:1498324 PMID:6426236 PMID:7883966 PMID:8018926 More... NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118 		JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Or10z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 3 ClinVar PMID:25741868 NCBI chr13:88,813,861...88,814,802
Ensembl chr13:86,278,626...86,283,642 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO
ISS		 ClinVar Annotator: match by term: Hereditary spherocytosis type 3 | ClinVar Annotator: match by term: SPHEROCYTOSIS, TYPE 3, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spherocytosis type 3
OMIM:270970
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8941647 More... NCBI chr13:88,735,833...88,811,697
Ensembl chr13:86,203,504...86,279,371 		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 (Diego blood group) ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spherocytosis type 4 | ClinVar Annotator: match by term: Spherocytosis type 4
OMIM:612653		 CTD
ClinVar
MouseDO		 PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 More... NCBI chr10:87,807,010...87,823,274
Ensembl chr10:87,306,872...87,323,117 		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 ClinVar Annotator: match by term: Hereditary spherocytosis type 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 More... NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932 		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 chr19:68,781,168...68,784,194
Ensembl chr19:51,883,715...51,886,742 		JBrowse link
G Alb albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G C13h1orf105 similar to human chromosome 1 open reading frame 105 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322 		JBrowse link
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr18:61,849,821...62,093,876
Ensembl chr18:59,580,768...59,824,400 		JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:78,862,286...78,877,353
Ensembl chr 3:58,454,744...58,469,840 		JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:173,988,443...173,994,320
Ensembl chr 3:153,568,381...153,576,215 		JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:33027564 PMID:37236975 NCBI chr 5:126,573,366...126,599,940
Ensembl chr 5:121,344,575...121,371,137 		JBrowse link
G Dnah14 dynein axonemal heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:93,322,653...93,540,706
Ensembl chr13:93,322,711...93,538,646 		JBrowse link
G Dnah9 dynein, axonemal, heavy chain 9 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:28492532 PMID:30471718 PMID:33027564 NCBI chr10:50,496,174...50,864,909
Ensembl chr10:50,497,688...50,864,949 		JBrowse link
G Ehbp1l1 EH domain binding protein 1-like 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:34645488 NCBI chr 1:212,423,444...212,444,357
Ensembl chr 1:202,994,118...203,014,270 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:123,855,289...123,984,716
Ensembl chr 2:121,927,942...122,056,707 		JBrowse link
G Fen1 flap structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:216,270,016...216,274,873
Ensembl chr 1:206,844,884...206,850,003 		JBrowse link
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr19:66,094,718...66,097,420
Ensembl chr19:49,185,662...49,188,737 		JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11137992 PMID:11295725 PMID:16920951 PMID:22590469 PMID:25546394 More... NCBI chr  X:17,580,380...17,601,181
Ensembl chr  X:14,908,494...14,923,838 		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 7:71,939,916...71,971,685
Ensembl chr 7:70,055,068...70,086,776 		JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr 6:21,756,039...21,977,533
Ensembl chr 6:21,755,195...21,972,192 		JBrowse link
G Gusb glucuronidase, beta ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:1702266 PMID:1779626 PMID:7573038 PMID:7680524 PMID:8644704 More... NCBI chr12:32,337,281...32,350,838
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:868864 PMID:8237999 PMID:9029003 PMID:11722414 PMID:17296578 More... NCBI chr10:15,816,099...15,816,943
Ensembl chr10:15,311,634...15,312,481 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25741868 PMID:28492532 NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Kif19 kinesin family member 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr10:99,800,185...99,826,546
Ensembl chr10:99,799,400...99,826,546 		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 4:179,916,255...179,949,613 JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33258288 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Mocs3 molybdenum cofactor synthesis 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 3:156,939,763...156,941,723
Ensembl chr 3:156,939,809...156,941,890 		JBrowse link
G Mybphl myosin binding protein H-like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 2:196,005,297...196,018,826
Ensembl chr 2:196,005,325...196,018,824 		JBrowse link
G Myo18a myosin XVIIIa ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr10:62,654,218...62,755,465
Ensembl chr10:62,654,281...62,755,468 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: MYOM1-related non-immune fetal hydrops | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 PMID:28492532 PMID:31130284 NCBI chr 9:118,362,547...118,485,954
Ensembl chr 9:110,915,943...111,039,344 		JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157 		JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:18330676 PMID:25205138 PMID:25741868 PMID:26036949 PMID:26841830 More... NCBI chr 3:57,022,822...57,220,752
Ensembl chr 3:36,613,716...36,811,574 		JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745 		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 chr17:9,317,085...9,431,528
Ensembl chr17:9,315,237...9,425,358 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:27479843 PMID:28492532 PMID:28619848 PMID:30187933 More... NCBI chr19:67,453,120...67,515,347
Ensembl chr19:50,544,582...50,606,501 		JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr13:74,343,619...74,346,148
Ensembl chr13:74,296,854...74,346,211 		JBrowse link
G Prpf19 pre-mRNA processing factor 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:216,966,104...216,977,549
Ensembl chr 1:207,541,595...207,552,662 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 More... NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925 		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 3:97,470,891...97,480,196
Ensembl chr 3:76,983,471...77,024,373 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:23791108 PMID:24469055 PMID:24939608 PMID:25049390 PMID:25124994 More... NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455 		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 6:45,407,823...45,502,773
Ensembl chr 6:39,679,082...39,774,031 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:21911697 PMID:22473935 More... NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr 3:119,886,129...120,433,465
Ensembl chr 3:99,432,505...99,704,961 		JBrowse link
G Serpina11 serpin family A member 11 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 6:128,668,030...128,677,476
Ensembl chr 6:122,903,250...122,912,670 		JBrowse link
G Sftpa1 surfactant protein A1 ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr16:17,042,264...17,045,770
Ensembl chr16:17,008,180...17,011,685 		JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:22670144 PMID:25137548 PMID:25627829 PMID:25741868 PMID:28492532 More... NCBI chr 1:262,964,345...263,052,898
Ensembl chr 1:252,959,723...253,047,337 		JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738 		JBrowse link
G Svopl SVOP like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 4:67,663,652...67,725,691
Ensembl chr 4:66,698,177...66,758,978 		JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 PMID:28749478 NCBI chr16:76,473,026...76,507,404
Ensembl chr16:69,771,408...69,801,504 		JBrowse link
G Ubn1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr10:10,496,576...10,532,010
Ensembl chr10:10,496,576...10,532,010 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 5:162,113,732...162,339,121
Ensembl chr 5:156,830,512...157,055,891 		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 ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia | ClinVar Annotator: match by term: LARS2-related condition OMIM
ClinVar		 PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395 		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 BCL11 transcription factor A ISO ClinVar Annotator: match by term: BCL11A-related condition | ClinVar Annotator: match by term: BCL11A-related intellectual disability | ClinVar Annotator: match by term: Dias-Logan syndrome | ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin OMIM
ClinVar		 PMID:25741868 PMID:27453576 PMID:28492532 PMID:28891213 PMID:29758562 More... NCBI chr14:102,230,147...102,325,289
Ensembl chr14:98,030,461...98,124,180 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Dias-Logan syndrome ClinVar PMID:25741868 NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532 		JBrowse link
G Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 ISO ClinVar Annotator: match by term: Dias-Logan syndrome ClinVar PMID:25741868 NCBI chr 1:80,881,263...80,883,789
Ensembl chr 1:80,881,309...80,883,893 		JBrowse link
Lymphatic Malformation 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mdfic MyoD family inhibitor domain containing ISO ClinVar Annotator: match by term: Lymphatic malformation 12 OMIM
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr 4:44,938,301...45,018,157
Ensembl chr 4:43,972,507...44,052,161 		JBrowse link
Lymphatic Malformation 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 13 OMIM
ClinVar		 PMID:25741868 PMID:26036949 PMID:28749478 PMID:30055085 PMID:33569873 NCBI chr16:76,473,026...76,507,404
Ensembl chr16:69,771,408...69,801,504 		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 ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar		 PMID:25741868 NCBI chr 3:89,835,071...89,932,616
Ensembl chr 3:69,430,120...69,525,910 		JBrowse link
Majeed Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chr 9:118,607,312...118,667,087
Ensembl chr 9:111,160,712...111,220,352 		JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Majeed syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2809904 PMID:9536098 PMID:10969284 PMID:11795677 PMID:15994876 More... NCBI chr 9:118,529,988...118,604,796
Ensembl chr 9:111,083,745...111,158,193 		JBrowse link
G Myl12a myosin light chain 12A ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:118,338,592...118,346,277
Ensembl chr 9:110,873,959...110,916,580 		JBrowse link
G Myl12b myosin light chain 12B ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:118,320,479...118,334,810 JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:118,362,547...118,485,954
Ensembl chr 9:110,915,943...111,039,344 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chr 9:118,690,050...118,837,281
Ensembl chr 9:111,247,702...111,349,665 		JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802 		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 chr18:80,487,923...80,520,544
Ensembl chr18:78,202,342...78,258,535
Ensembl chr18:78,202,342...78,258,535 		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		 CTD
RGD		 PMID:16469290 PMID:11295830 RGD:1599771 NCBI chr 7:116,186,729...116,204,290
Ensembl chr 7:114,306,685...114,324,298 		JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12030840 NCBI chr 8:66,971,261...66,978,149
Ensembl chr 8:58,075,367...58,082,312 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO RGD PMID:20562208 RGD:10755319 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3026948 NCBI chr10:15,828,291...15,829,138
Ensembl chr10:15,307,815...15,338,392
Ensembl chr10:15,307,815...15,338,392 		JBrowse link
G Hbb hemoglobin subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15929117 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:158,120,200...158,252,012 		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 ClinVar Annotator: match by term: CYB5A-related condition | ClinVar Annotator: match by term: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3951505 PMID:8262522 PMID:20080843 PMID:22170710 PMID:25741868 More... NCBI chr18:80,487,923...80,520,544
Ensembl chr18:78,202,342...78,258,535
Ensembl chr18:78,202,342...78,258,535 		JBrowse link
Methemoglobinemia, Alpha-Globin Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Methemoglobinemia, alpha type OMIM
ClinVar		 PMID:3026948 PMID:3957697 PMID:5896605 PMID:5964191 PMID:6998928 More... NCBI chr10:15,828,291...15,829,138
Ensembl chr10:15,307,815...15,338,392
Ensembl chr10:15,307,815...15,338,392 		JBrowse link
Methemoglobinemia, Beta-Globin Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA) | ClinVar Annotator: match by term: METHEMOGLOBINEMIA, BETA TYPE | ClinVar Annotator: match by term: Methemoglobinemia, beta-globin type OMIM
ClinVar		 PMID:14973 PMID:81926 PMID:88735 PMID:604314 PMID:750553 More... NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:158,120,200...158,252,012 		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 ClinVar Annotator: match by term: AMMECR1-related condition | ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis OMIM
ClinVar		 PMID:21681106 PMID:25741868 PMID:27811305 PMID:28089922 PMID:28492532 More... NCBI chr  X:111,262,792...111,368,099
Ensembl chr  X:106,466,699...106,571,487 		JBrowse link
G Gng5-ps4 G protein subunit gamma 5, pseudogene 4 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr11:58,096,275...58,096,795
Ensembl chr11:44,627,300...44,627,503 		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:111,470,972...111,517,356
Ensembl chr  X:106,714,868...106,719,794 		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:111,084,830...111,245,419
Ensembl chr  X:106,289,371...106,448,640 		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 ClinVar Annotator: match by term: CYB5R3-related condition | ClinVar Annotator: match by term: Hereditary methemoglobinemia | ClinVar Annotator: match by term: METHEMOGLOBINEMIA, TYPE I | ClinVar Annotator: match by term: METHEMOGLOBINEMIA, TYPE II | ClinVar Annotator: match by term: NADH-DEPENDENT METHEMOGLOBIN REDUCTASE DEFICIENCY
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons,3'UTR:		 OMIM
ClinVar
CTD
RGD		 PMID:1159544 PMID:1400360 PMID:1707593 PMID:1898726 PMID:2107882 More... RGD:11040533 NCBI chr 7:116,186,729...116,204,290
Ensembl chr 7:114,306,685...114,324,298 		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:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 More... NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 More... NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Nuchal bleb, familial ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:20301303 PMID:21387466 More... NCBI chr 6:20,286,117...20,363,350
Ensembl chr 6:14,533,360...14,611,107 		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 (Diego blood group) ISO DNA:deletion, missense mutation:cds:c.1198_1224del, p.K56E (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Elliptocytosis 4 | ClinVar Annotator: match by term: Southeast Asian ovalocytosis		 CTD
ClinVar
RGD		 PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 More... RGD:10450479 NCBI chr10:87,807,010...87,823,274
Ensembl chr10:87,306,872...87,323,117 		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 ClinVar Annotator: match by term: Overhydrated hereditary stomatocytosis | ClinVar Annotator: match by term: Potassium sodium disorder of erythrocyte | ClinVar Annotator: match by term: RHAG-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19831342 PMID:21859730 PMID:23967154 PMID:25741868 PMID:28492532 NCBI chr 9:20,069,800...20,097,836
Ensembl chr 9:20,069,807...20,097,836 		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 5:80,977,562...80,987,901
Ensembl chr 5:75,961,993...75,972,474 		JBrowse link
G Apob apolipoprotein B treatment ISO RGD PMID:24035168 RGD:11354943 NCBI chr 6:36,563,704...36,603,300
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Bcl11a BCL11 transcription factor A severity
treatment		 ISO DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human) RGD PMID:18667698 PMID:22360576 PMID:21998251 RGD:11099970, RGD:11100007, RGD:11099996 NCBI chr14:102,230,147...102,325,289
Ensembl chr14:98,030,461...98,124,180 		JBrowse link
G C3 complement C3 severity ISO protein:increased processing RGD PMID:7554454 PMID:3896597 RGD:11040773, RGD:11040777 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:31,012,091...31,035,098
Ensembl chr 6:25,292,133...25,319,861 		JBrowse link
G Cd36 CD36 molecule treatment ISO protein:increased expression:erythrocyte RGD PMID:18322255 PMID:20015873 RGD:6893506, RGD:11041114 NCBI chr 4:18,209,088...18,302,142
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:plasma (human) RGD PMID:24368019 RGD:11352270 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cfb complement factor B ISO protein:decreased activity RGD PMID:10440069 PMID:12793071 RGD:11041159, RGD:11041160 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 susceptibility ISO DNA:polymorphisms: :c.681 G>A,wildtype(human) RGD PMID:20831548 RGD:11352749 NCBI chr 1:247,879,058...247,916,804
Ensembl chr 1:237,693,094...238,057,596 		JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:54,460,636...54,483,049
Ensembl chr19:37,558,177...37,591,654 		JBrowse link
G F2 coagulation factor II, thrombin disease_progression ISO protein:increased expression:plasma: RGD PMID:26286849 PMID:8191393 RGD:11565074, RGD:11565080 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:plasma RGD PMID:15795541 RGD:11341683 NCBI chr 2:212,511,675...212,523,375
Ensembl chr 2:209,826,959...209,838,668 		JBrowse link
G Gch1 GTP cyclohydrolase 1 sexual_dimorphism ISO DNA:SNP, haplotype:rs8007267 (human) RGD PMID:24136375 RGD:329961567 NCBI chr15:22,884,006...22,917,412
Ensembl chr15:20,402,527...20,437,698 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO protein:decreased expression:penis RGD PMID:19951064 PMID:20846340 PMID:22620981 RGD:11352756, RGD:11352775, RGD:11352757 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased activity:erythrocyte: RGD PMID:14717789 RGD:11059503 NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO RGD PMID:23049400 RGD:10450863 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN KORLE-BU | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S
ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickle cell disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:14973 PMID:49057 PMID:81926 PMID:88735 PMID:429843 More... RGD:1600892 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Hbe1 hemoglobin subunit epsilon 1 treatment ISO DNA:SNP: :rs7130110 (human) RGD PMID:12124399 PMID:23409025 RGD:11353858, RGD:11353860 NCBI chr 1:158,282,931...158,458,855
Ensembl chr 1:158,282,936...158,284,391 		JBrowse link
G Hk1 hexokinase 1 ISO protein:alternative form:erythrocyte RGD PMID:5686464 RGD:11353884 NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr 8:53,570,364...53,577,758
Ensembl chr 8:44,673,554...44,680,957 		JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO
IMP		 RGD PMID:11238038 PMID:20306336 RGD:10755563, RGD:10755565 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:54,449,151...54,453,701
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:24281564 RGD:11046271 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:25843670 RGD:11354938 NCBI chr10:38,375,132...38,378,003
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Mdm2 MDM2 proto-oncogene ISO RGD PMID:21085184 RGD:10412315 NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:53,290,664...53,314,915 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity
no_association		 ISO DNA:SNP: :677C>T (human)
DNA:SNP: :1298A>C (human)		 RGD PMID:22924497 PMID:20113291 PMID:22924497 RGD:10449403, RGD:10449420, RGD:10449403 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nos3 nitric oxide synthase 3 severity ISO DNA:polymorphisms,haplotype:intron,cds:894G>T, -786T>C(human) RGD PMID:24088668 RGD:11533647 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nppb natriuretic peptide B severity ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20408845 PMID:21689089 RGD:5685653 NCBI chr 5:163,699,955...163,701,314
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 severity ISO protein:increased expression:serum (human) RGD PMID:20306667 RGD:11541101 NCBI chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Pgf placental growth factor ISO protein:increased expression:plasma RGD PMID:20040765 RGD:6483588 NCBI chr 6:110,547,165...110,557,747
Ensembl chr 6:104,816,104...104,826,685 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity: serum (human) RGD PMID:24508012 RGD:11553835 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism, haplotype RGD PMID:19254255 RGD:11041761 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G Selp selectin P ISO RGD PMID:21071696 RGD:6219007 NCBI chr13:79,009,379...79,044,994
Ensembl chr13:76,476,295...76,511,845 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISS OMIM:603903 MouseDO NCBI chr13:88,735,833...88,811,697
Ensembl chr13:86,203,504...86,279,371 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:plasma: RGD PMID:26928604 RGD:11062147 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:14965870 PMID:8140855 RGD:10449460 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:80,311,269...80,321,678
Ensembl chr11:66,806,045...66,821,903 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16916123 NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:204,038,114...204,057,958 		JBrowse link
Sickle Cell Retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinf1 serpin family F member 1 ISO protein:increased expression:retinal blood vessels (human) RGD PMID:12957143 RGD:8554869 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
Sickle Cell Trait term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN D (IBADAN) ClinVar PMID:284392 PMID:974261 PMID:1891024 PMID:5097135 PMID:5481775 More... NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Hp haptoglobin ISO RGD PMID:21595649 PMID:19023114 RGD:5147416, RGD:5147440 NCBI chr19:54,449,151...54,453,701
Ensembl chr19:37,539,627...37,544,523 		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 1:89,084,306...89,102,279
Ensembl chr 1:79,959,322...79,974,340 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Stomatocytosis II ClinVar PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 More... NCBI chr19:67,453,120...67,515,347
Ensembl chr19:50,544,582...50,606,501 		JBrowse link
thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase mu 1 treatment ISO DNA:deletion: : (human) RGD PMID:26691424 RGD:12798507 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: HEMOGLOBIN TUNIS-BIZERTE | ClinVar Annotator: match by term: Thalassemia ClinVar PMID:7786798 PMID:25741868 NCBI chr10:15,828,291...15,829,138
Ensembl chr10:15,307,815...15,338,392
Ensembl chr10:15,307,815...15,338,392 		JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: Thalassemia ClinVar PMID:12671183 PMID:18003757 PMID:25741868 NCBI chr10:15,816,099...15,816,943
Ensembl chr10:15,311,634...15,312,481 		JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN J (BALTIMORE) | ClinVar Annotator: match by term: Hemoglobin Lepore trait | ClinVar Annotator: match by term: Thalassemia ClinVar PMID:511585 PMID:700140 PMID:701081 PMID:857849 PMID:1347969 More... NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Hemoglobin Lepore trait | ClinVar Annotator: match by term: Thalassemia ClinVar PMID:701081 PMID:1347969 PMID:1693293 PMID:2442092 PMID:4625560 More... NCBI chr 1:158,224,175...158,231,675
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:11732868 RGD:10450569 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Ppp1r15a protein phosphatase 1, regulatory subunit 15A ISS MouseDO NCBI chr 1:105,136,521...105,139,596
Ensembl chr 1:96,000,058...96,003,171 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:11732868 RGD:10450569 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		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
ISS		 OMIM:615512
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Triosephosphate isomerase deficiency		 OMIM
MouseDO
CTD
ClinVar		 PMID:2876430 PMID:7485100 PMID:7628118 PMID:8244340 PMID:8503454 More... NCBI chr 4:159,301,558...159,305,088
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
Vaso-occlusive Crisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase mu 1 severity ISO associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:24840051 RGD:10450860 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:23590899 RGD:10450838 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO associated with Anemia, Sickle Cell;DNA:promoter,exon: RGD PMID:20172753 RGD:11530044 NCBI chr 1:237,429,873...237,465,567 JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeats:intron: RGD PMID:25263931 RGD:11533931 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Pde9a phosphodiesterase 9A treatment ISO RGD PMID:22833547 RGD:242905184 NCBI chr20:9,471,136...9,564,286
Ensembl chr20:9,469,848...9,562,948 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO RGD PMID:23643401 RGD:11100023 NCBI chr10:87,807,010...87,823,274
Ensembl chr10:87,306,872...87,323,117 		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 ClinVar Annotator: match by term: ATP11C-related condition | ClinVar Annotator: match by term: X-linked congenital hemolytic anemia OMIM
ClinVar		 PMID:25741868 PMID:26944472 PMID:28492532 NCBI chr  X:143,600,763...143,788,407
Ensembl chr  X:138,565,836...138,751,204 		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 ClinVar Annotator: match by term: Beta-thalassemia-X-linked thrombocytopenia syndrome | ClinVar Annotator: match by term: Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:871527 PMID:12200364 PMID:14691578 PMID:16783379 PMID:17148589 More... NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:14,529,702...14,537,530 		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 ClinVar Annotator: match by term: GATA1-Related X-Linked Cytopenia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, without dyserythropoietic anemia
DNA:missense mutation: :p.G208S, [622G>T;623G>C] (human)
DNA:missense mutation: :p.D218G, 653A>G (human)
DNA:missense mutation: :p.M205V, 613G>A (human)		 OMIM
ClinVar
RGD		 PMID:871527 PMID:3164080 PMID:9536098 PMID:10700180 PMID:11418466 More... RGD:10450749, RGD:10450743, RGD:10450740 NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:14,529,702...14,537,530 		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:34,179,279...34,201,989
Ensembl chr  X:30,547,536...30,570,125 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    physical disorder 5206
      congenital hemolytic anemia 365
        Congenital Hemolytic Anemia with Emphysema and Cutis Laxa 0
        Red Cell Phospholipid Defect with Hemolysis 0
        Rh-Null Disease, Amorph Type 0
        Stomatocytosis II 2
        Transient Erythroblastopenia of Childhood 0
        X-linked congenital hemolytic anemia 1
        congenital dyserythropoietic anemia + 33
        congenital nonspherocytic hemolytic anemia + 73
        dehydrated hereditary stomatocytosis + 2
        glucosephosphate dehydrogenase deficiency + 63
        hemoglobinopathy + 248
        hereditary elliptocytosis + 10
        hereditary spherocytosis + 14
        overhydrated hereditary stomatocytosis 1
        sickle cell anemia + 45
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      Hemic and Lymphatic Diseases 4329
        hematopoietic system disease 3837
          anemia 867
            normocytic anemia 756
              hemolytic anemia 432
                congenital hemolytic anemia 365
                  Congenital Hemolytic Anemia with Emphysema and Cutis Laxa 0
                  Red Cell Phospholipid Defect with Hemolysis 0
                  Rh-Null Disease, Amorph Type 0
                  Stomatocytosis II 2
                  Transient Erythroblastopenia of Childhood 0
                  X-linked congenital hemolytic anemia 1
                  congenital dyserythropoietic anemia + 33
                  congenital nonspherocytic hemolytic anemia + 73
                  dehydrated hereditary stomatocytosis + 2
                  glucosephosphate dehydrogenase deficiency + 63
                  hemoglobinopathy + 248
                  hereditary elliptocytosis + 10
                  hereditary spherocytosis + 14
                  overhydrated hereditary stomatocytosis 1
                  sickle cell anemia + 45
paths to the root