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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 6:9,965,118...9,990,563
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 6:9,945,629...9,964,912
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 NCBI chr 9:2,087,437...2,114,366
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 chr13:106,575,586...106,606,325
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:152,201,081...152,220,863
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 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Gsr glutathione-disulfide reductase ISO RGD PMID:947404 RGD:1600697 NCBI chr16:58,482,209...58,525,256
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 1:158,250,421...158,251,832
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 chr19:50,544,580...50,606,812
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 6:95,265,756...95,308,952
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 5:147,087,479...147,121,716
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 chr10:87,306,865...87,323,132
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 chr13:86,203,504...86,279,371
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 2:195,649,845...195,655,402
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 chr20:12,856,613...12,873,586
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 1:158,250,421...158,251,832
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 chr19:13,466,287...13,474,082
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 4:10,793,834...10,814,170
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 9:14,955,300...14,970,641
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 8:109,026,905...109,028,031
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 chr10:15,337,265...15,338,121
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 chr10:15,323,830...15,324,677
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: Alpha-thalassemia, zf type | ClinVar Annotator: match by term: alpha Thalassemia
associated with Anemia, Sickle Cell;		 CTD
ClinVar
OMIM
RGD		 PMID:478977 PMID:538560 PMID:620088 PMID:868864 PMID:974034 More... RGD:10755568 NCBI chr10:15,311,637...15,312,481
Ensembl chr10:15,311,634...15,312,481 		JBrowse link
G Hbb hemoglobin subunit beta ISO 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:893136 PMID:909565 More... RGD:11353869 NCBI chr 1:158,250,421...158,251,832
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 chr10:15,334,293...15,336,061
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 chr19:37,539,626...37,544,178
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 chr10:15,273,340...15,307,131
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:28492532 NCBI chr 5:149,951,397...150,006,424
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:71,094,144...71,201,550
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 8:96,426,704...96,524,152
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: 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: X-linked alpha-thalassemia-mental retardation 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:3239563 PMID:3658675 PMID:6682021 PMID:6711605 PMID:7506096 More... RGD:9586030, RGD:9586029, RGD:9586027 NCBI chr  X:70,850,981...70,997,330
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:71,083,486...71,089,733
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 2:174,609,437...174,615,457
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:71,271,454...71,287,429
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 chr10:15,323,830...15,324,677
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 chr10:15,311,637...15,312,481
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 1:158,250,421...158,251,832
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:9326931 PMID:10995512 PMID:12858175 PMID:16955409 PMID:20500465 More... NCBI chr  X:70,850,981...70,997,330
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 chr10:15,323,830...15,324,677
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 chr10:15,311,637...15,312,481
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:893136 PMID:909565 More... NCBI chr 1:158,250,421...158,251,832
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 1:96,447,224...96,501,464
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 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:22705320 RGD:11039491 NCBI chr 1:79,353,924...79,357,852
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 chr14:98,029,018...98,124,181
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 chr10:14,390,104...14,448,204
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 6:25,292,133...25,315,078
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 chr20:3,970,643...3,976,510
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 chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:16225658 NCBI chr12:19,204,258...19,207,948
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:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
G Gh1 growth hormone 1 treatment ISO RGD PMID:2045623 RGD:11352730 NCBI chr10:91,228,102...91,230,079
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 chr16:58,482,209...58,525,256
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 chr20:12,856,613...12,873,586
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 1:86,170,926...86,172,865
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 chr10:15,323,830...15,324,677
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 chr10:15,311,637...15,312,481
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:14973 PMID:20942 PMID:27132 PMID:36184 More... RGD:1600893, RGD:11353868, RGD:1600575, RGD:1600895 NCBI chr 1:158,250,421...158,251,832
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 1:158,243,696...158,245,076
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 1:158,271,871...158,273,426
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 chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Hp haptoglobin ISO RGD PMID:22885163 RGD:11041795 NCBI chr19:37,539,626...37,544,178
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 chr14:82,056,347...82,064,083
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 3:116,526,601...116,537,055
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 4:5,214,602...5,219,178
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 chr19:23,250,627...23,253,802
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 3:15,680,688...15,684,033
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 1:158,317,228...158,318,151
Ensembl chr 1:158,317,228...158,318,151 		JBrowse link
G Pjvk pejvakin ISO ClinVar Annotator: match by term: beta Thalassemia ClinVar PMID:17301963 PMID:17718875 PMID:22903915 PMID:28492532 NCBI chr 3:61,594,644...61,605,051
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 4:33,294,737...33,325,759
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 chr20:4,596,558...4,602,201
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 1:29,637,213...29,659,561
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 chr12:19,107,673...19,124,622
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 chr11:68,163,413...68,185,257
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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: beta Thalassemia ClinVar PMID:7898523 PMID:8205619 PMID:8951566 PMID:9060892 PMID:9201030 More... NCBI chr13:47,267,325...47,285,390
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 chr11:66,806,107...66,816,520
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 1:158,250,421...158,251,832
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 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 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Cooley's anemia ClinVar PMID:17301963 PMID:17718875 PMID:22903915 PMID:28492532 NCBI chr 3:61,594,644...61,605,051
Ensembl chr 3:61,596,641...61,605,045 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:plasma (human) RGD PMID:17617032 RGD:11553831 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Cooley's anemia ClinVar PMID:7898523 PMID:8205619 PMID:8951566 PMID:9060892 PMID:9201030 More... NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		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 chr12:19,326,411...19,351,667
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 4:43,972,310...44,052,162
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 chr12:19,368,990...19,385,881
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
DNA:mutations:multiple (human)		 ClinVar
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 chr15:62,543,375...63,013,060
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 7:125,682,502...125,708,294
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 8:62,397,908...62,425,162
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 chr19:23,250,627...23,253,802
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 9:104,252,001...104,408,349
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 3:131,939,011...131,981,489
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 chr19:34,934,999...34,948,888
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: 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:16098079 PMID:17576681 PMID:18081704 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 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 3:131,640,770...131,649,933
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 3:131,677,391...131,707,123
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 3:131,908,466...131,924,838
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 3:131,925,095...131,939,042
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 3:131,314,996...131,376,930
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: HEMPAS anemia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19561605 PMID:19621418 More... NCBI chr 3:131,939,011...131,981,489
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 3:131,621,875...131,641,127
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 III 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 8:62,397,908...62,425,162
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 7:130,750,936...130,780,891
Ensembl chr 7:130,750,936...130,780,831 		JBrowse link
congenital dyserythropoietic anemia type IV 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: Congenital dyserythropoietic anemia, type IV ClinVar PMID:7795610 PMID:9536098 PMID:11825066 PMID:17576681 PMID:25741868 More... NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681 		JBrowse link
G Klf1 KLF transcription factor 1 ISO 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 chr19:23,250,627...23,253,802
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 chr18:78,213,067...78,245,677
Ensembl chr18:78,202,342...78,258,535
Ensembl chr18:78,202,342...78,258,535 		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 3:15,912,431...15,923,045
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:152,201,081...152,220,863
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 1:86,828,211...86,856,077
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 1:158,250,421...158,251,832
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 chr20:30,230,488...30,332,099
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 4:86,161,642...86,204,656
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 2:174,543,008...174,551,863
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 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		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 1:79,956,380...79,974,354
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 1:79,956,380...79,974,354
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 chr19:50,544,580...50,606,812
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 OMIM
ClinVar		 PMID:652816 PMID:687829 PMID:4851153 PMID:6473461 PMID:25741868 More... NCBI chr 1:79,956,380...79,974,354
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: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,652,315...196,725,609
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 1:198,148,999...198,151,406
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 1:198,753,689...198,796,016
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 1:196,564,744...196,568,753
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 1:198,235,861...198,251,660
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: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:198,655,394...198,658,097
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 1:156,487,279...156,494,277
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: Thalassemia, gamma-delta-beta 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: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:197,527,467...197,539,343
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 1:196,401,857...196,435,541
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 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553 		JBrowse link
G Dusp8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta 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-like 2 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: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,504,533...196,512,561
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 1:197,730,698...197,733,374
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:893136 PMID:1112610 PMID:1186896 PMID:1390250 More... NCBI chr 1:158,250,421...158,251,832
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 1:158,271,871...158,273,426
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 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Ifitm10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta 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 1:197,814,409...197,831,802
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 1:251,244,973...251,245,540
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 1:197,843,277...197,992,522
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 1:196,367,380...196,370,943
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 1:198,291,711...198,624,683
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 1:196,299,843...196,315,170
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 1:197,614,677...197,648,414
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 1:196,326,343...196,326,452
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 1:197,732,275...197,732,358
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 1:198,963,786...198,969,862
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 1:198,947,648...198,951,556
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 1:196,799,494...196,831,740
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 1:196,864,336...196,896,475
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: Thalassemia, gamma-delta-beta 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 1:156,494,423...156,591,415
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 1:157,193,051...157,227,707
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 1:157,454,391...157,455,398
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: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,395,779...157,396,717
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 1:157,134,584...157,135,641
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 1:157,142,232...157,151,114
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 1:157,278,651...157,279,610
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 1:157,292,342...157,293,292
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 1:157,231,467...157,232,417
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: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,438,123...157,439,064
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 1:157,421,637...157,422,575
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 1:157,516,210...157,517,157
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 1:157,315,393...157,316,319
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 1:157,370,394...157,371,434
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: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,987,781...157,988,725
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 1:158,182,988...158,183,935
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 1:158,160,904...158,161,854
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 1:156,939,068...156,940,009
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 1:157,561,070...157,562,023
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 1:157,656,899...157,657,837
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 1:157,105,171...157,106,151
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 1:157,605,177...157,606,115 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 1:157,037,381...157,038,325
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 1:157,026,845...157,027,798
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 1:157,065,217...157,066,170
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 1:157,475,119...157,476,063
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 1:156,591,540...156,618,116
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 1:198,696,897...198,699,292
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 1:196,536,815...196,542,808
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 1:196,552,723...196,557,805
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 1:196,570,051...196,572,060 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 1:156,823,960...156,848,262
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 1:196,382,857...196,383,668
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 1:198,670,626...198,694,977
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 1:156,656,246...156,818,777
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 1:197,588,126...197,593,598
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 1:196,493,634...196,503,965
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 1:198,071,500...198,078,832
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 1:197,595,012...197,597,554
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 1:197,652,535...197,669,736
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 1:196,961,585...196,984,252
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 1:156,964,896...156,987,504
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 1:157,114,044...157,127,494
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 1:198,254,956...198,277,824
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 1:198,190,128...198,204,447
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 1:196,571,307...196,593,842
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 1:198,251,986...198,254,810
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 5:144,110,010...144,264,037
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 NCBI chr13:86,281,535...86,282,476
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:1541680 PMID:1638030 PMID:1642244 PMID:1679439 More... NCBI chr13:86,203,504...86,279,371
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:7883966 PMID:8667615 PMID:8844207 PMID:25741868 PMID:28492532 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: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
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 3:141,228,443...141,239,337
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:151,428,334...151,450,115
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:151,636,071...151,651,528
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:151,216,483...151,289,069
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:152,079,954...152,087,034
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:151,633,501...151,636,155
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:151,397,567...151,429,666
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:151,197,296...151,209,458
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 9:1,986,942...1,989,484
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 chr20:149,337...164,375
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...
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:152,038,990...152,042,190
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 chr18:140,848...172,330
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:152,166,716...152,175,327
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:152,007,758...152,034,266
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 AURES | 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
OMIM		 PMID:5448 PMID:16832 PMID:511159 PMID:736032 PMID:835572 More... NCBI chr  X:152,201,081...152,220,863
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:152,087,611...152,094,274
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:151,687,779...151,712,688
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:151,515,244...151,524,175
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:152,216,485...152,241,476
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:151,768,621...151,778,521
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:151,597,270...151,623,776
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:151,781,177...151,844,687
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:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:150,775,034...150,807,161
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:151,905,056...151,925,419
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:151,530,390...151,560,779
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:152,115,699...152,131,608
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:151,493,832...151,508,688
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:151,369,406...151,373,508
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:150,880,865...150,882,789
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:151,661,463...151,670,538
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:152,054,562...152,056,769
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:151,384,675...151,393,979
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:151,510,452...151,515,208
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:151,524,191...151,528,218
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:151,922,210...151,955,902
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:151,954,261...151,987,208
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:152,151,242...152,154,094
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 WALTER REED | 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:152,201,081...152,220,863
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 7:53,903,339...53,907,375
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:152,216,485...152,241,476
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 chr13:42,472,625...42,477,308
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 4:5,214,602...5,219,178
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 chr10:87,306,865...87,323,132
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 chr10:13,874,883...13,889,527
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 chr13:93,539,386...93,564,026
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 chr16:58,482,209...58,525,256
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:1686260 PMID:1787098 PMID:2833478 PMID:3384694 PMID:5639009 More... NCBI chr10:15,323,830...15,324,677
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:1281602 PMID:1581238 PMID:1686260 PMID:1726096 PMID:1787098 More... NCBI chr10:15,311,637...15,312,481
Ensembl chr10:15,311,634...15,312,481 		JBrowse link
G