Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:aplastic anemia
go back to main search page
Accession:DOID:12449 term browser browse the term
Definition:A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. (DO)
Synonyms:exact_synonym: aplastic anemias;   hypoplastic anemia;   hypoplastic anemias
 narrow_synonym: acquired aplastic anemia;   severe aplastic anemia
 related_synonym: APLASTIC ANEMIA, SUSCEPTIBILITY TO
 xref: EFO:0006926;   EFO:0006927;   GARD:5836;   ICD10CM:D61.9;   ICD9CM:284.9;   MESH:D000741;   MONDO:0015909;   NCI:C2870;   OMIM:609135;   ORDO:182040
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
aplastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc2 anaphase promoting complex subunit 2 ISO protein:decreased expression:bone marrow (human) RGD PMID:28968996 RGD:14696669 NCBI chr 2:25,162,469...25,175,928
Ensembl chr 2:25,162,490...25,175,927 		JBrowse link
G Cd40lg CD40 ligand ISO protein:decreased expression:serum (human) RGD PMID:22537155 RGD:11352267 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Cd86 CD86 antigen ISO protein:increased expression:blood, dendritic cell (human) RGD PMID:21234821 RGD:11354968 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443 		JBrowse link
G Csf2 colony stimulating factor 2 (granulocyte-macrophage) ISO CTD Direct Evidence: therapeutic CTD PMID:9885444 PMID:12221670 NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493 		JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1642096 PMID:9777751 PMID:10544668 PMID:10629575 PMID:15863969 More... NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455 		JBrowse link
G Ddx41 DEAD box helicase 41 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar NCBI chr13:55,678,223...55,684,471
Ensembl chr13:55,678,223...55,684,471 		JBrowse link
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chr 5:108,055,908...108,134,943
Ensembl chr 5:108,055,919...108,134,951 		JBrowse link
G Dkc1 dyskeratosis congenita 1, dyskerin ISO DNA:missense mutations:exon:p.V105G, p.S121A (human) RGD PMID:26360549 RGD:11251733 NCBI chr  X:74,139,460...74,153,382
Ensembl chr  X:74,139,460...74,153,383 		JBrowse link
G Ephx1 epoxide hydrolase 1, microsomal susceptibility
disease_progression		 ISO DNA:missense mutation:exon:p.H139R (human)
DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)		 RGD PMID:21228718 PMID:26999617 RGD:11252118, RGD:11252120 NCBI chr 1:180,817,121...180,845,134
Ensembl chr 1:180,803,775...180,848,469 		JBrowse link
G Fancm Fanconi anemia, complementation group M ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28881617 PMID:29351780 More... NCBI chr12:65,120,884...65,178,616
Ensembl chr12:65,122,377...65,178,832 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:CD34+ bone marrow cell
protein:decreased expression:plasma:		 RGD PMID:7577642 PMID:11876982 RGD:11049159, RGD:11049449 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Fasl Fas ligand ISO RGD PMID:16212902 RGD:1582425 NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064 		JBrowse link
G Flt3l FMS-like tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr 7:44,780,607...44,785,914
Ensembl chr 7:44,779,212...44,785,856 		JBrowse link
G Gata2 GATA binding protein 2 ISO mRNA:decreased expression:CD34+ cell RGD PMID:11328281 RGD:11049519 NCBI chr 6:88,170,873...88,184,014
Ensembl chr 6:88,170,873...88,184,014 		JBrowse link
G Gfi1b growth factor independent 1B ISO mRNA:decreased expression:bone marrow cell: RGD PMID:17156408 RGD:11040507 NCBI chr 2:28,499,462...28,511,994
Ensembl chr 2:28,499,462...28,511,994 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility ISO in male RGD PMID:16079101 RGD:10450858 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility
no_association		 ISO RGD PMID:14681495 PMID:16227674 RGD:10450790, RGD:10450878 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha treatment ISO DNA:polymorphism, haplotype RGD PMID:12070003 PMID:7994040 RGD:11041765, RGD:11041775 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 severity
treatment		 ISO DNA:polymorphism, haplotype RGD PMID:24979673 PMID:7994040 PMID:12070003 RGD:11041757, RGD:11041775, RGD:11041765 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G Ifng interferon gamma susceptibility
treatment		 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:609135
ClinVar Annotator: match by term: Aplastic anemia
DNA:polymorphism: : 874A>T(human)
DNA:repeats,haplotype:intron: -2,353 A>T(human)
DNA:repeats:intron:		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:18426658 PMID:20953611 PMID:15327519 RGD:10755710, RGD:10755690, RGD:10755688 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase severity ISO RGD PMID:7694680 RGD:12910751 NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382 		JBrowse link
G LOC110806267 Tert 5' regulatory region ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:19489057 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr13:73,770,663...73,775,510 JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Aplastic anemia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2952226 PMID:9536098 PMID:9590180 PMID:9590181 PMID:9620777 More... NCBI chr 4:15,955,388...15,992,589
Ensembl chr 4:15,957,925...15,992,589 		JBrowse link
G Prf1 perforin 1 (pore forming protein) ISO ClinVar Annotator: match by term: Aplastic anemia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1156555 PMID:7851014 PMID:9536098 PMID:10583959 PMID:11179007 More... NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459 		JBrowse link
G Rasa3 RAS p21 protein activator 3 IAGP OMIM:609135 MouseDO NCBI chr 8:13,617,218...13,727,590
Ensembl chr 8:13,616,948...13,727,603 		JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chr 5:108,048,388...108,056,871
Ensembl chr 5:108,048,368...108,056,871 		JBrowse link
G Sbds SBDS ribosome maturation factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aplastic anemia		 CTD
OMIM
ClinVar		 PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... NCBI chr 5:130,274,573...130,284,371
Ensembl chr 5:130,274,572...130,284,371 		JBrowse link
G Terc telomerase RNA component ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:12090986 PMID:12676774 PMID:12972604 PMID:15082312 PMID:15098033 More... NCBI chr 3:96,321,753...96,322,149
Ensembl chr 3:96,321,753...96,322,149 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Aplastic anemia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:12167716 PMID:15814878 PMID:15885610 PMID:16332973 PMID:16627250 More... RGD:11038668 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 susceptibility
severity		 ISO DNA:polymorphism: :509C>T(human)
protein:decreased expression: :		 RGD PMID:24362456 PMID:24028718 RGD:11073601, RGD:11073606 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Thpo thrombopoietin no_association ISO DNA:SNPs:exons:
DNA:mutation:cds:c.112C>T(human)		 RGD PMID:22686250 PMID:24085763 RGD:11073679, RGD:11073680 NCBI chr16:20,543,204...20,553,261
Ensembl chr16:20,543,204...20,553,261 		JBrowse link
G Tinf2 Terf1 (TRF1)-interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:20301779 NCBI chr14:55,912,120...55,919,265
Ensembl chr14:55,912,146...55,919,277 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:12941546 RGD:10449452 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
autosomal dominant sideroblastic anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspa9 heat shock protein 9 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 4 OMIM
ClinVar		 PMID:3653362 PMID:25741868 PMID:26491070 PMID:28492532 NCBI chr18:35,070,467...35,087,404
Ensembl chr18:35,070,467...35,087,410 		JBrowse link
autosomal recessive pyridoxine-refractory sideroblastic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrx5 glutaredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:104,998,877...105,007,170
Ensembl chr12:104,998,947...105,009,165 		JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive | ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive		 OMIM
CTD
ClinVar		 PMID:19412178 PMID:21393332 PMID:24323989 PMID:25326635 PMID:25512395 More... NCBI chr 9:119,939,428...119,953,570
Ensembl chr 9:119,939,440...119,953,570 		JBrowse link
autosomal recessive pyridoxine-refractory sideroblastic anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrx5 glutaredoxin 5 ISO ClinVar Annotator: match by term: Sideroblastic anemia 3 OMIM
ClinVar		 PMID:17485548 PMID:20364084 PMID:25342667 PMID:25741868 PMID:26100117 More... NCBI chr12:104,998,877...105,007,170
Ensembl chr12:104,998,947...105,009,165 		JBrowse link
Autosomal Sideroblastic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia ClinVar PMID:25741868 NCBI chr15:89,356,679...89,361,627
Ensembl chr15:89,356,679...89,361,628 		JBrowse link
Bone Marrow Failure Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srp72 signal recognition particle 72 ISO ClinVar Annotator: match by term: Bone marrow failure syndrome 1 | ClinVar Annotator: match by term: SRP72-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22541560 PMID:25741868 PMID:28492532 NCBI chr 5:77,122,548...77,147,782
Ensembl chr 5:77,122,530...77,147,784 		JBrowse link
congenital hypoplastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2310022A10Rik RIKEN cDNA 2310022A10 gene ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,252,482...27,281,524
Ensembl chr 7:27,252,658...27,281,524 		JBrowse link
G Actmap actin maturation protease ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:26,894,973...26,909,611
Ensembl chr 7:26,895,206...26,909,611 		JBrowse link
G Akt2 thymoma viral proto-oncogene 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,290,977...27,340,251
Ensembl chr 7:27,290,977...27,340,251 		JBrowse link
G Arhgef1 Rho guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,601,762...24,626,019
Ensembl chr 7:24,602,337...24,626,019 		JBrowse link
G Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,677,592...24,705,338
Ensembl chr 7:24,677,592...24,705,383 		JBrowse link
G Axl AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,455,925...25,488,502
Ensembl chr 7:25,456,698...25,488,130 		JBrowse link
G B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,327,025...25,328,917
Ensembl chr 7:25,326,079...25,334,525 		JBrowse link
G B9d2 B9 protein domain 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,380,205...25,385,987
Ensembl chr 7:25,380,205...25,385,983 		JBrowse link
G Bckdha branched chain ketoacid dehydrogenase E1, alpha polypeptide ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,329,371...25,358,178
Ensembl chr 7:25,329,371...25,358,406 		JBrowse link
G Blvrb biliverdin reductase B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,147,403...27,165,406
Ensembl chr 7:27,147,403...27,165,569 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 5:31,211,964...31,235,823
Ensembl chr 5:31,212,124...31,235,823 		JBrowse link
G Ccdc97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,410,537...25,418,460
Ensembl chr 7:25,410,531...25,418,513 		JBrowse link
G Cd79a CD79A antigen (immunoglobulin-associated alpha) ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,596,922...24,601,283
Ensembl chr 7:24,596,806...24,601,622 		JBrowse link
G Ceacam10 CEA cell adhesion molecule 10 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,476,592...24,484,081
Ensembl chr 7:24,476,631...24,484,082 		JBrowse link
G Ceacam15 CEA cell adhesion molecule 15 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:16,405,256...16,409,630
Ensembl chr 7:16,405,256...16,409,630 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,967,054...24,993,584
Ensembl chr 7:24,967,129...24,993,584 		JBrowse link
G Cnfn cornifelin ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,067,041...25,069,149
Ensembl chr 7:25,067,045...25,069,149 		JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:26,928,112...26,957,374
Ensembl chr 7:26,932,448...26,957,375 		JBrowse link
G Cyp2a4 cytochrome P450, family 2, subfamily a, polypeptide 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:26,006,617...26,014,513
Ensembl chr 7:26,006,594...26,014,513 		JBrowse link
G Cyp2a5 cytochrome P450, family 2, subfamily a, polypeptide 5 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:26,534,764...26,542,689
Ensembl chr 7:26,534,730...26,542,973 		JBrowse link
G Cyp2b10 cytochrome P450, family 2, subfamily b, polypeptide 10 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,597,083...25,626,049
Ensembl chr 7:25,597,045...25,626,049 		JBrowse link
G Cyp2f2 cytochrome P450, family 2, subfamily f, polypeptide 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:26,819,380...26,833,085
Ensembl chr 7:26,819,334...26,833,085 		JBrowse link
G Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,501,894...25,515,950
Ensembl chr 7:25,501,900...25,516,338 		JBrowse link
G Dedd2 death effector domain-containing DNA binding protein 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,899,337...24,920,035
Ensembl chr 7:24,899,340...24,920,040 		JBrowse link
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:20054847 PMID:25741868 PMID:28492532 NCBI chr 5:108,055,908...108,134,943
Ensembl chr 5:108,055,919...108,134,951 		JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,992,980...28,001,210
Ensembl chr 7:27,992,978...28,001,663 		JBrowse link
G Dmac2 distal membrane arm assembly complex 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,318,839...25,324,975
Ensembl chr 7:25,318,839...25,324,976 		JBrowse link
G Dmrtc2 doublesex and mab-3 related transcription factor like family C2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,569,242...24,577,080
Ensembl chr 7:24,569,482...24,577,076 		JBrowse link
G Dyrk1b dual-specificity tyrosine phosphorylation regulated kinase 1b ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,878,880...27,896,896
Ensembl chr 7:27,878,894...27,886,719 		JBrowse link
G Egln2 egl-9 family hypoxia-inducible factor 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:26,858,083...26,866,227
Ensembl chr 7:26,858,083...26,866,227 		JBrowse link
G Eid2 EP300 interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,967,306...27,968,593
Ensembl chr 7:27,967,306...27,968,697 		JBrowse link
G Eid2b EP300 interacting inhibitor of differentiation 2B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,977,152...27,978,916
Ensembl chr 7:27,977,164...27,978,914 		JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,941,985...24,950,522
Ensembl chr 7:24,941,986...24,950,186 		JBrowse link
G Erich4 glutamate rich 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,314,045...25,315,278
Ensembl chr 7:25,314,045...25,315,317 		JBrowse link
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,358,578...25,367,457
Ensembl chr 7:25,358,589...25,370,793 		JBrowse link
G Fbl fibrillarin ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,868,293...27,878,701
Ensembl chr 7:27,869,135...27,878,694 		JBrowse link
G Fcgbp Fc fragment of IgG binding protein ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,770,661...27,820,289
Ensembl chr 7:27,770,661...27,820,287 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:871527 PMID:3164080 PMID:12200364 PMID:14691578 PMID:15895080 More... NCBI chr  X:7,825,504...7,842,844
Ensembl chr  X:7,825,499...7,844,310 		JBrowse link
G Gm38591 predicted gene, 38591 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,942,447...27,942,941 JBrowse link
G Gm9881 predicted gene 9881 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr16:90,963,733...90,968,496 JBrowse link
G Grik5 glutamate receptor, ionotropic, kainate 5 (gamma 2) ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,709,274...24,775,421
Ensembl chr 7:24,709,274...24,771,771 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,927,683...24,937,276
Ensembl chr 7:24,927,683...24,937,276 		JBrowse link
G Hipk4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,222,686...27,230,605
Ensembl chr 7:27,222,692...27,230,600 		JBrowse link
G Hnrnpul1 heterogeneous nuclear ribonucleoprotein U-like 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,420,586...25,455,695
Ensembl chr 7:25,420,590...25,454,182 		JBrowse link
G Itpkc inositol 1,4,5-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:26,906,595...26,928,042
Ensembl chr 7:26,906,597...26,928,086 		JBrowse link
G Lipe lipase, hormone sensitive ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,078,952...25,097,911
Ensembl chr 7:25,078,952...25,098,135 		JBrowse link
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,004,566...27,039,142
Ensembl chr 7:27,004,561...27,037,117 		JBrowse link
G Lypd4 Ly6/Plaur domain containing 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,564,044...24,569,180
Ensembl chr 7:24,564,045...24,569,366 		JBrowse link
G Map3k10 mitogen-activated protein kinase kinase kinase 10 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,355,800...27,374,059
Ensembl chr 7:27,355,800...27,374,023 		JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,016,589...25,065,342
Ensembl chr 7:25,016,589...25,065,342 		JBrowse link
G Mia MIA SH3 domain containing ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:26,879,166...26,880,574
Ensembl chr 7:26,879,167...26,880,582 		JBrowse link
G Numbl numb-like ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:26,957,884...26,981,570
Ensembl chr 7:26,957,858...26,981,569 		JBrowse link
G Pafah1b3 platelet-activating factor acetylhydrolase, isoform 1b, subunit 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,994,473...24,997,377
Ensembl chr 7:24,994,474...24,997,411 		JBrowse link
G Pld3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,231,090...27,252,511
Ensembl chr 7:27,231,425...27,252,643 		JBrowse link
G Plekhg2 pleckstrin homology domain containing, family G (with RhoGef domain) member 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:28,059,028...28,072,818
Ensembl chr 7:28,059,029...28,072,024 		JBrowse link
G Pou2f2 POU domain, class 2, transcription factor 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,790,111...24,879,292
Ensembl chr 7:24,786,769...24,879,151 		JBrowse link
G Prr19 proline rich 19 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,000,784...25,003,565
Ensembl chr 7:25,000,836...25,003,557 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,198,730...27,219,466
Ensembl chr 7:27,196,813...27,219,639 		JBrowse link
G Psmc4 proteasome (prosome, macropain) 26S subunit, ATPase, 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,741,127...27,749,517
Ensembl chr 7:27,741,132...27,749,526 		JBrowse link
G Rab4b RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:26,867,858...26,878,308
Ensembl chr 7:26,867,849...26,878,321 		JBrowse link
G Rabac1 Rab acceptor 1 (prenylated) ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,669,175...24,672,153
Ensembl chr 7:24,669,177...24,672,179 		JBrowse link
G Rpl19 ribosomal protein L19 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr11:97,912,829...97,921,319
Ensembl chr11:97,917,536...97,921,318 		JBrowse link
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr11:68,792,392...68,795,360
Ensembl chr11:68,792,409...68,797,815 		JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:20054847 PMID:25741868 PMID:28492532 NCBI chr 5:108,048,388...108,056,871
Ensembl chr 5:108,048,368...108,056,871 		JBrowse link
G Rps10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr17:27,849,389...27,854,218
Ensembl chr17:27,849,392...27,855,643 		JBrowse link
G Rps16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:28,050,114...28,052,123
Ensembl chr 7:28,050,077...28,052,580 		JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:9988267 PMID:10753603 PMID:12586610 PMID:12750732 PMID:15384984 More... NCBI chr 7:24,584,013...24,589,236
Ensembl chr 7:24,583,796...24,589,231 		JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr14:24,540,786...24,545,925
Ensembl chr14:24,537,193...24,547,027 		JBrowse link
G Selenov selenoprotein V ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,984,077...27,990,611
Ensembl chr 7:27,984,077...27,990,611 		JBrowse link
G Sertad1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,186,378...27,189,741
Ensembl chr 7:27,186,335...27,189,741 		JBrowse link
G Sertad3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,173,265...27,176,789
Ensembl chr 7:27,173,193...27,176,789 		JBrowse link
G Shkbp1 Sh3kbp1 binding protein 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,041,553...27,055,440
Ensembl chr 7:27,041,558...27,055,444 		JBrowse link
G Snrpa small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:26,886,431...26,895,696
Ensembl chr 7:26,886,430...26,895,696 		JBrowse link
G Sptbn4 spectrin beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,055,808...27,147,128
Ensembl chr 7:27,055,808...27,147,111 		JBrowse link
G Supt5 suppressor of Ty 5, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:28,014,316...28,038,341
Ensembl chr 7:28,014,316...28,038,171 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:28,004,947...28,011,517
Ensembl chr 7:28,004,941...28,011,497 		JBrowse link
G Tmem145 transmembrane protein 145 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,004,981...25,015,621
Ensembl chr 7:25,005,531...25,015,620 		JBrowse link
G Tmem91 transmembrane protein 91 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,368,564...25,379,011
Ensembl chr 7:25,368,564...25,374,591 		JBrowse link
G Ttc9b tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,353,349...27,355,632
Ensembl chr 7:27,353,340...27,356,771 		JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr16:33,775,152...33,787,408
Ensembl chr16:33,775,152...33,787,408 		JBrowse link
G Zfp11 zinc finger protein 11 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 5:129,731,659...129,747,152
Ensembl chr 5:129,731,657...129,747,163 		JBrowse link
G Zfp526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,919,272...24,929,688
Ensembl chr 7:24,920,850...24,926,932 		JBrowse link
G Zfp574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,775,099...24,782,917
Ensembl chr 7:24,771,992...24,782,917 		JBrowse link
G Zfp607a zinc finger protein 607A ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,559,922...27,606,709
Ensembl chr 7:27,556,952...27,580,250 		JBrowse link
G Zfp780b zinc finger protein 780B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,658,560...27,678,768
Ensembl chr 7:27,658,560...27,678,596 		JBrowse link
Diamond-Blackfan anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2310022A10Rik RIKEN cDNA 2310022A10 gene ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,252,482...27,281,524
Ensembl chr 7:27,252,658...27,281,524 		JBrowse link
G Actmap actin maturation protease ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:26,894,973...26,909,611
Ensembl chr 7:26,895,206...26,909,611 		JBrowse link
G Akt2 thymoma viral proto-oncogene 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,290,977...27,340,251
Ensembl chr 7:27,290,977...27,340,251 		JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,047,898...69,060,617
Ensembl chr11:69,047,815...69,060,618 		JBrowse link
G Alox8 arachidonate 8-lipoxygenase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,074,711...69,088,669
Ensembl chr11:69,074,758...69,088,669 		JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,016,243...69,039,941
Ensembl chr11:69,016,722...69,039,941 		JBrowse link
G Arhgef1 Rho guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,601,762...24,626,019
Ensembl chr 7:24,602,337...24,626,019 		JBrowse link
G Arhgef15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr11:68,819,726...68,847,760
Ensembl chr11:68,833,981...68,848,306 		JBrowse link
G Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 7:24,677,592...24,705,338
Ensembl chr 7:24,677,592...24,705,383 		JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:68,936,477...68,942,490
Ensembl chr11:68,936,473...68,942,490 		JBrowse link
G Axl AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,455,925...25,488,502
Ensembl chr 7:25,456,698...25,488,130 		JBrowse link
G B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,327,025...25,328,917
Ensembl chr 7:25,326,079...25,334,525 		JBrowse link
G B9d2 B9 protein domain 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,380,205...25,385,987
Ensembl chr 7:25,380,205...25,385,983 		JBrowse link
G Bckdha branched chain ketoacid dehydrogenase E1, alpha polypeptide ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,329,371...25,358,178
Ensembl chr 7:25,329,371...25,358,406 		JBrowse link
G Blvrb biliverdin reductase B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,147,403...27,165,406
Ensembl chr 7:27,147,403...27,165,569 		JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:68,950,601...68,952,402
Ensembl chr11:68,950,543...68,952,404 		JBrowse link
G Ccdc97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,410,537...25,418,460
Ensembl chr 7:25,410,531...25,418,513 		JBrowse link
G Cd79a CD79A antigen (immunoglobulin-associated alpha) ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,596,922...24,601,283
Ensembl chr 7:24,596,806...24,601,622 		JBrowse link
G Ceacam10 CEA cell adhesion molecule 10 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,476,592...24,484,081
Ensembl chr 7:24,476,631...24,484,082 		JBrowse link
G Ceacam15 CEA cell adhesion molecule 15 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:16,405,256...16,409,630
Ensembl chr 7:16,405,256...16,409,630 		JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,234,099...69,260,325
Ensembl chr11:69,234,099...69,260,232 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,967,054...24,993,584
Ensembl chr 7:24,967,129...24,993,584 		JBrowse link
G Cnfn cornifelin ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,067,041...25,069,149
Ensembl chr 7:25,067,045...25,069,149 		JBrowse link
G Cntrob centrobin, centrosomal BRCA2 interacting protein ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,188,735...69,214,720
Ensembl chr11:69,190,313...69,214,601 		JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:26,928,112...26,957,374
Ensembl chr 7:26,932,448...26,957,375 		JBrowse link
G Ctc1 CTS telomere maintenance complex component 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr11:68,906,014...68,927,299
Ensembl chr11:68,906,737...68,927,299 		JBrowse link
G Cyb5d1 cytochrome b5 domain containing 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,281,756...69,287,005
Ensembl chr11:69,282,751...69,286,457 		JBrowse link
G Cyp2a4 cytochrome P450, family 2, subfamily a, polypeptide 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:26,006,617...26,014,513
Ensembl chr 7:26,006,594...26,014,513 		JBrowse link
G Cyp2a5 cytochrome P450, family 2, subfamily a, polypeptide 5 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:26,534,764...26,542,689
Ensembl chr 7:26,534,730...26,542,973 		JBrowse link
G Cyp2b10 cytochrome P450, family 2, subfamily b, polypeptide 10 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,597,083...25,626,049
Ensembl chr 7:25,597,045...25,626,049 		JBrowse link
G Cyp2f2 cytochrome P450, family 2, subfamily f, polypeptide 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:26,819,380...26,833,085
Ensembl chr 7:26,819,334...26,833,085 		JBrowse link
G Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,501,894...25,515,950
Ensembl chr 7:25,501,900...25,516,338 		JBrowse link
G Dedd2 death effector domain-containing DNA binding protein 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,899,337...24,920,035
Ensembl chr 7:24,899,340...24,920,040 		JBrowse link
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19191325 More... NCBI chr 5:108,055,908...108,134,943
Ensembl chr 5:108,055,919...108,134,951 		JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,992,980...28,001,210
Ensembl chr 7:27,992,978...28,001,663 		JBrowse link
G Dmac2 distal membrane arm assembly complex 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,318,839...25,324,975
Ensembl chr 7:25,318,839...25,324,976 		JBrowse link
G Dmrtc2 doublesex and mab-3 related transcription factor like family C2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,569,242...24,577,080
Ensembl chr 7:24,569,482...24,577,076 		JBrowse link
G Dnah2 dynein, axonemal, heavy chain 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,311,635...69,439,934
Ensembl chr11:69,311,635...69,439,936 		JBrowse link
G Dyrk1b dual-specificity tyrosine phosphorylation regulated kinase 1b ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,878,880...27,896,896
Ensembl chr 7:27,878,894...27,886,719 		JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,444,918...69,452,428
Ensembl chr11:69,444,918...69,451,031 		JBrowse link
G Egln2 egl-9 family hypoxia-inducible factor 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:26,858,083...26,866,227
Ensembl chr 7:26,858,083...26,866,227 		JBrowse link
G Eid2 EP300 interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,967,306...27,968,593
Ensembl chr 7:27,967,306...27,968,697 		JBrowse link
G Eid2b EP300 interacting inhibitor of differentiation 2B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,977,152...27,978,916
Ensembl chr 7:27,977,164...27,978,914 		JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,941,985...24,950,522
Ensembl chr 7:24,941,986...24,950,186 		JBrowse link
G Erich4 glutamate rich 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,314,045...25,315,278
Ensembl chr 7:25,314,045...25,315,317 		JBrowse link
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,358,578...25,367,457
Ensembl chr 7:25,358,589...25,370,793 		JBrowse link
G Fbl fibrillarin ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,868,293...27,878,701
Ensembl chr 7:27,869,135...27,878,694 		JBrowse link
G Fcgbp Fc fragment of IgG binding protein ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,770,661...27,820,289
Ensembl chr 7:27,770,661...27,820,287 		JBrowse link
G Flvcr1 feline leukemia virus subgroup C cellular receptor 1 IAGP OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909 MouseDO NCBI chr 1:190,738,029...190,758,387
Ensembl chr 1:190,738,044...190,758,355 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:871527 PMID:3164080 PMID:8628290 PMID:9536098 PMID:11566888 More... NCBI chr  X:7,825,504...7,842,844
Ensembl chr  X:7,825,499...7,844,310 		JBrowse link
G Gh growth hormone treatment ISO RGD PMID:25492299 RGD:11352737 NCBI chr11:106,191,087...106,194,529
Ensembl chr11:106,191,097...106,192,691 		JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 NCBI chr  X:7,870,440...7,884,731
Ensembl chr  X:7,870,439...7,884,731 		JBrowse link
G Gm22442 predicted gene, 22442 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,241,344...69,241,487
Ensembl chr11:69,241,344...69,241,487 		JBrowse link
G Gm26387 predicted gene, 26387 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar NCBI chr 5:108,055,211...108,055,342
Ensembl chr 5:108,055,211...108,055,342 		JBrowse link
G Gm38591 predicted gene, 38591 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,942,447...27,942,941 JBrowse link
G Gm9881 predicted gene 9881 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr16:90,963,733...90,968,496 JBrowse link
G Grik5 glutamate receptor, ionotropic, kainate 5 (gamma 2) ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,709,274...24,775,421
Ensembl chr 7:24,709,274...24,771,771 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,927,683...24,937,276
Ensembl chr 7:24,927,683...24,937,276 		JBrowse link
G Gucy2e guanylate cyclase 2e ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,108,943...69,128,083
Ensembl chr11:69,108,943...69,127,862 		JBrowse link
G Heatr3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:35213692 NCBI chr 8:88,864,453...88,901,656
Ensembl chr 8:88,864,483...88,898,655 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,009,778...69,014,880
Ensembl chr11:69,011,230...69,014,881 		JBrowse link
G Hipk4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,222,686...27,230,605
Ensembl chr 7:27,222,692...27,230,600 		JBrowse link
G Hnrnpul1 heterogeneous nuclear ribonucleoprotein U-like 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,420,586...25,455,695
Ensembl chr 7:25,420,590...25,454,182 		JBrowse link
G Iqcg IQ motif containing G ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:18535205 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 More... NCBI chr16:32,834,640...32,876,617
Ensembl chr16:32,833,053...32,876,588 		JBrowse link
G Itpkc inositol 1,4,5-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:26,906,595...26,928,042
Ensembl chr 7:26,906,597...26,928,086 		JBrowse link
G Kcnab3 potassium voltage-gated channel, shaker-related subfamily, beta member 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,217,084...69,223,867
Ensembl chr11:69,217,084...69,223,868 		JBrowse link
G Kdm6b KDM1 lysine (K)-specific demethylase 6B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,289,334...69,311,188
Ensembl chr11:69,289,334...69,304,501 		JBrowse link
G Klf1 Kruppel-like transcription factor 1 (erythroid) ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chr 8:85,628,611...85,631,920
Ensembl chr 8:85,628,557...85,631,924 		JBrowse link
G Lipe lipase, hormone sensitive ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,078,952...25,097,911
Ensembl chr 7:25,078,952...25,098,135 		JBrowse link
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,004,566...27,039,142
Ensembl chr 7:27,004,561...27,037,117 		JBrowse link
G Lypd4 Ly6/Plaur domain containing 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,564,044...24,569,180
Ensembl chr 7:24,564,045...24,569,366 		JBrowse link
G Map3k10 mitogen-activated protein kinase kinase kinase 10 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,355,800...27,374,059
Ensembl chr 7:27,355,800...27,374,023 		JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,016,589...25,065,342
Ensembl chr 7:25,016,589...25,065,342 		JBrowse link
G Mia MIA SH3 domain containing ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:26,879,166...26,880,574
Ensembl chr 7:26,879,167...26,880,582 		JBrowse link
G Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,286,617...69,287,497
Ensembl chr11:69,286,313...69,287,506 		JBrowse link
G Numbl numb-like ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:26,957,884...26,981,570
Ensembl chr 7:26,957,858...26,981,569 		JBrowse link
G Odf4 outer dense fiber of sperm tails 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr11:68,812,661...68,817,907
Ensembl chr11:68,812,661...68,817,907 		JBrowse link
G Pafah1b3 platelet-activating factor acetylhydrolase, isoform 1b, subunit 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,994,473...24,997,377
Ensembl chr 7:24,994,474...24,997,411 		JBrowse link
G Per1 period circadian clock 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:68,985,934...69,000,791
Ensembl chr11:68,986,043...69,000,786 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr11:68,876,527...68,899,286
Ensembl chr11:68,876,523...68,899,286 		JBrowse link
G Pld3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,231,090...27,252,511
Ensembl chr 7:27,231,425...27,252,643 		JBrowse link
G Plekhg2 pleckstrin homology domain containing, family G (with RhoGef domain) member 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:28,059,028...28,072,818
Ensembl chr 7:28,059,029...28,072,024 		JBrowse link
G Polr3a polymerase (RNA) III (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22855961 PMID:25741868 PMID:27029625 NCBI chr14:24,498,762...24,537,126
Ensembl chr14:24,498,764...24,537,126 		JBrowse link
G Pou2f2 POU domain, class 2, transcription factor 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,790,111...24,879,292
Ensembl chr 7:24,786,769...24,879,151 		JBrowse link
G Prr19 proline rich 19 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,000,784...25,003,565
Ensembl chr 7:25,000,836...25,003,557 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,198,730...27,219,466
Ensembl chr 7:27,196,813...27,219,639 		JBrowse link
G Psmc4 proteasome (prosome, macropain) 26S subunit, ATPase, 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,741,127...27,749,517
Ensembl chr 7:27,741,132...27,749,526 		JBrowse link
G Rab4b RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:26,867,858...26,878,308
Ensembl chr 7:26,867,849...26,878,321 		JBrowse link
G Rabac1 Rab acceptor 1 (prenylated) ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,669,175...24,672,153
Ensembl chr 7:24,669,177...24,672,179 		JBrowse link
G Rangrf RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr11:68,863,310...68,866,011
Ensembl chr11:68,863,310...68,866,011 		JBrowse link
G Rnf227 ring finger protein 227 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,231,282...69,233,467
Ensembl chr11:69,231,287...69,233,467 		JBrowse link
G Rpl11 ribosomal protein L11 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19773262 More... NCBI chr 4:135,776,665...135,780,704
Ensembl chr 4:135,755,576...135,780,739 		JBrowse link
G Rpl19 ribosomal protein L19 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr11:97,912,829...97,921,319
Ensembl chr11:97,917,536...97,921,318 		JBrowse link
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:9536098 PMID:17576681 PMID:20522432 PMID:21056402 PMID:22267198 More... NCBI chr11:68,792,392...68,795,360
Ensembl chr11:68,792,409...68,797,815 		JBrowse link
G Rpl35a ribosomal protein L35A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:18535205 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 More... NCBI chr16:32,876,823...32,880,559
Ensembl chr16:32,876,823...32,880,559 		JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19191325 More... NCBI chr 5:108,048,388...108,056,871
Ensembl chr 5:108,048,368...108,056,871 		JBrowse link
G Rps10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20116044 PMID:20159986 More... NCBI chr17:27,849,389...27,854,218
Ensembl chr17:27,849,392...27,855,643 		JBrowse link
G Rps16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:28,050,114...28,052,123
Ensembl chr 7:28,050,077...28,052,580 		JBrowse link
G Rps17 ribosomal protein S17 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia		 CTD
ClinVar		 PMID:17647292 PMID:19953637 PMID:25741868 NCBI chr 7:80,992,481...80,994,982
Ensembl chr 7:80,992,480...80,995,002 		JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:3769971 PMID:9536098 PMID:9988267 PMID:10590074 PMID:10598818 More... RGD:1599572, RGD:1599571 NCBI chr 7:24,584,013...24,589,236
Ensembl chr 7:24,583,796...24,589,231 		JBrowse link
G Rps20 ribosomal protein S20 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 PMID:32790018 NCBI chr 4:3,831,334...3,835,600
Ensembl chr 4:3,831,334...3,835,665 		JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary ClinVar PMID:9536098 PMID:17186470 PMID:17576681 PMID:19689926 PMID:20960466 More... NCBI chr14:24,540,786...24,545,925
Ensembl chr14:24,537,193...24,547,027 		JBrowse link
G Rps26 ribosomal protein S26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19816270 PMID:20116044 PMID:22381658 PMID:23718193 PMID:24675553 More... NCBI chr10:128,460,398...128,462,375
Ensembl chr10:128,460,403...128,462,616 		JBrowse link
G Rps7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 PMID:26136524 PMID:28492532 NCBI chr12:28,680,846...28,685,952
Ensembl chr12:28,680,853...28,685,952 		JBrowse link
G Rpsa ribosomal protein SA IAGP OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909 MouseDO NCBI chr 9:119,956,832...119,961,435
Ensembl chr 9:119,956,755...119,961,435 		JBrowse link
G Selenov selenoprotein V ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,984,077...27,990,611
Ensembl chr 7:27,984,077...27,990,611 		JBrowse link
G Sertad1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,186,378...27,189,741
Ensembl chr 7:27,186,335...27,189,741 		JBrowse link
G Sertad3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,173,265...27,176,789
Ensembl chr 7:27,173,193...27,176,789 		JBrowse link
G Shkbp1 Sh3kbp1 binding protein 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,041,553...27,055,440
Ensembl chr 7:27,041,558...27,055,444 		JBrowse link
G Slc25a35 solute carrier family 25, member 35 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr11:68,858,954...68,863,342
Ensembl chr11:68,858,957...68,865,191 		JBrowse link
G Snord118 small nucleolar RNA, C/D box 118 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:68,964,252...68,964,388
Ensembl chr11:68,964,253...68,964,387 		JBrowse link
G Snord21 small nucleolar RNA, C/D box 21 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:108,052,421...108,052,514
Ensembl chr 5:108,052,421...108,052,514 		JBrowse link
G Snrpa small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:26,886,431...26,895,696
Ensembl chr 7:26,886,430...26,895,696 		JBrowse link
G Sptbn4 spectrin beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,055,808...27,147,128
Ensembl chr 7:27,055,808...27,147,111 		JBrowse link
G Supt5 suppressor of Ty 5, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:28,014,316...28,038,341
Ensembl chr 7:28,014,316...28,038,171 		JBrowse link
G Suv39h1 suppressor of variegation 3-9 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 NCBI chr  X:7,927,401...7,940,994
Ensembl chr  X:7,927,410...7,940,999 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:28,004,947...28,011,517
Ensembl chr 7:28,004,941...28,011,497 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:68,961,635...68,964,119
Ensembl chr11:68,961,632...68,964,119 		JBrowse link
G Tmem145 transmembrane protein 145 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,004,981...25,015,621
Ensembl chr 7:25,005,531...25,015,620 		JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,287,342...69,289,060
Ensembl chr11:69,287,345...69,289,060 		JBrowse link
G Tmem91 transmembrane protein 91 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,368,564...25,379,011
Ensembl chr 7:25,368,564...25,374,591 		JBrowse link
G Trappc1 trafficking protein particle complex 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,214,812...69,216,619
Ensembl chr11:69,214,806...69,216,619 		JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Ttc9b tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 7:27,353,349...27,355,632
Ensembl chr 7:27,353,340...27,356,771 		JBrowse link
G Vamp2 vesicle-associated membrane protein 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:68,979,354...68,983,207
Ensembl chr11:68,979,316...68,983,210 		JBrowse link
G Was Wiskott-Aldrich syndrome ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 NCBI chr  X:7,947,705...7,956,730
Ensembl chr  X:7,947,692...7,956,737 		JBrowse link
G Wrap53 WD repeat containing, antisense to Trp53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,452,580...69,471,076
Ensembl chr11:69,452,584...69,471,081 		JBrowse link
G Zfp11 zinc finger protein 11 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 5:129,731,659...129,747,152
Ensembl chr 5:129,731,657...129,747,163 		JBrowse link
G Zfp526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,919,272...24,929,688
Ensembl chr 7:24,920,850...24,926,932 		JBrowse link
G Zfp574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,775,099...24,782,917
Ensembl chr 7:24,771,992...24,782,917 		JBrowse link
G Zfp607a zinc finger protein 607A ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,559,922...27,606,709
Ensembl chr 7:27,556,952...27,580,250 		JBrowse link
G Zfp780b zinc finger protein 780B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,658,560...27,678,768
Ensembl chr 7:27,658,560...27,678,596 		JBrowse link
Diamond-Blackfan anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More... NCBI chr 5:108,055,908...108,134,943
Ensembl chr 5:108,055,919...108,134,951 		JBrowse link
G Heatr3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:25741868 PMID:35213692 NCBI chr 8:88,864,453...88,901,656
Ensembl chr 8:88,864,483...88,898,655 		JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More... NCBI chr 5:108,048,388...108,056,871
Ensembl chr 5:108,048,368...108,056,871 		JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 OMIM
ClinVar		 PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:11112378 More... NCBI chr 7:24,584,013...24,589,236
Ensembl chr 7:24,583,796...24,589,231 		JBrowse link
Diamond-Blackfan anemia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikzf4 IKAROS family zinc finger 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 ClinVar PMID:20116044 PMID:22045982 PMID:22689679 PMID:23718193 PMID:23812780 More... NCBI chr10:128,466,708...128,505,668
Ensembl chr10:128,466,712...128,505,227 		JBrowse link
G Rps26 ribosomal protein S26 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 10		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17483715 PMID:17576681 PMID:19816270 More... NCBI chr10:128,460,398...128,462,375
Ensembl chr10:128,460,403...128,462,616 		JBrowse link
G Suox sulfite oxidase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 ClinVar PMID:20116044 PMID:22045982 PMID:22689679 PMID:23718193 PMID:28492532 NCBI chr10:128,505,756...128,509,787
Ensembl chr10:128,505,763...128,509,942 		JBrowse link
Diamond-Blackfan anemia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl26 ribosomal protein L26 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 11		 OMIM
CTD
ClinVar		 PMID:22431104 PMID:25741868 PMID:28492532 NCBI chr11:68,792,392...68,795,360
Ensembl chr11:68,792,409...68,797,815 		JBrowse link
Diamond-Blackfan anemia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkiras1 NFKB inhibitor interacting Ras-like protein 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 | ClinVar Annotator: match by term: RPL15-related condition ClinVar PMID:23812780 PMID:25741868 PMID:28492532 PMID:29599205 NCBI chr14:4,185,693...4,198,560
Ensembl chr14:4,185,693...4,198,560 		JBrowse link
G Rpl15 ribosomal protein L15 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 | ClinVar Annotator: match by term: RPL15-related condition		 OMIM
CTD
ClinVar		 PMID:23812780 PMID:25741868 PMID:28492532 PMID:29599205 NCBI chr14:4,198,710...4,201,873
Ensembl chr14:4,198,305...4,201,873 		JBrowse link
Diamond-Blackfan anemia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps29 ribosomal protein S29 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 13		 OMIM
CTD
ClinVar		 PMID:24829207 PMID:25741868 PMID:28492532 NCBI chr12:69,204,495...69,205,891
Ensembl chr12:69,204,496...69,205,960 		JBrowse link
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsr2 TSR2 20S rRNA accumulation ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis		 OMIM
CTD
ClinVar		 PMID:11424144 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chr  X:149,870,090...149,879,539
Ensembl chr  X:149,870,090...149,879,539 		JBrowse link
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps26 ribosomal protein S26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:17483715 PMID:19816270 PMID:20116044 PMID:23718193 PMID:24675553 More... NCBI chr10:128,460,398...128,462,375
Ensembl chr10:128,460,403...128,462,616 		JBrowse link
G Rps28 ribosomal protein S28 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		 OMIM
CTD
ClinVar		 PMID:24942156 PMID:25741868 NCBI chr17:34,042,010...34,043,536
Ensembl chr17:34,038,001...34,043,536 		JBrowse link
G Tsr2 TSR2 20S rRNA accumulation ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:11424144 PMID:24942156 NCBI chr  X:149,870,090...149,879,539
Ensembl chr  X:149,870,090...149,879,539 		JBrowse link
Diamond-Blackfan anemia 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl27 ribosomal protein L27 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 16		 OMIM
CTD
ClinVar		 PMID:25424902 PMID:25741868 PMID:28492532 NCBI chr11:101,333,071...101,336,422
Ensembl chr11:101,333,124...101,336,355 		JBrowse link
Diamond-Blackfan anemia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps27 ribosomal protein S27 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 17		 OMIM
CTD
ClinVar		 PMID:25424902 PMID:25741868 NCBI chr 3:90,119,974...90,120,955
Ensembl chr 3:90,119,829...90,120,958 		JBrowse link
Diamond-Blackfan anemia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl18 ribosomal protein L18 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 18 ClinVar
OMIM		 PMID:28280134 NCBI chr 7:45,364,891...45,370,255
Ensembl chr 7:45,364,881...45,370,260 		JBrowse link
Diamond-Blackfan anemia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl35 ribosomal protein L35 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 19 ClinVar
OMIM		 PMID:28280134 NCBI chr 2:38,891,593...38,895,143
Ensembl chr 2:38,891,592...38,895,636 		JBrowse link
Diamond-Blackfan anemia 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps15a ribosomal protein S15A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 20 ClinVar
OMIM		 PMID:27909223 NCBI chr 7:117,703,597...117,715,370
Ensembl chr 7:117,703,595...117,715,411 		JBrowse link
Diamond-Blackfan Anemia 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Heatr3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 21 OMIM
ClinVar		 PMID:25741868 PMID:35213692 NCBI chr 8:88,864,453...88,901,656
Ensembl chr 8:88,864,483...88,898,655 		JBrowse link
Diamond-Blackfan anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a polymerase (RNA) III (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 ClinVar PMID:25741868 NCBI chr14:24,498,762...24,537,126
Ensembl chr14:24,498,764...24,537,126 		JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17186470 PMID:17576681 PMID:20960466 PMID:23812780 More... NCBI chr14:24,540,786...24,545,925
Ensembl chr14:24,537,193...24,547,027 		JBrowse link
Diamond-Blackfan anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps17 ribosomal protein S17 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 4		 OMIM
CTD
ClinVar		 PMID:17647292 PMID:19953637 PMID:23718193 PMID:23812780 PMID:25741868 NCBI chr 7:80,992,481...80,994,982
Ensembl chr 7:80,992,480...80,995,002 		JBrowse link
Diamond-Blackfan anemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqcg IQ motif containing G ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 | ClinVar Annotator: match by term: RPL35A-related condition ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18535205 PMID:22262766 More... NCBI chr16:32,834,640...32,876,617
Ensembl chr16:32,833,053...32,876,588 		JBrowse link
G Rpl35a ribosomal protein L35A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 | ClinVar Annotator: match by term: RPL35A-related condition
CTD Direct Evidence: marker/mechanism
DNA:deletions, duplication:multiple (human)
DNA:deletions, snps:multiple (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18535205 PMID:22262766 More... RGD:11535072, RGD:11535069 NCBI chr16:32,876,823...32,880,559
Ensembl chr16:32,876,823...32,880,559 		JBrowse link
Diamond-Blackfan anemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Aase-Smith syndrome II | ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 ClinVar PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More... NCBI chr 5:108,055,908...108,134,943
Ensembl chr 5:108,055,919...108,134,951 		JBrowse link
G Rpl5 ribosomal protein L5 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aase-Smith syndrome II | ClinVar Annotator: match by term: Diamond-Blackfan anemia 6
OMIM:612561
DNA:mutations:multiple (human)
DNA:snps, deletions, insertions:exons, introns:multiple (human)
DNA:snp, insertion, deletion:exons:g.3G>T, g.37_38insT, g.473_474delAA (human)
DNA:insertion, nonsense mutation, deletion:cds:c.197_198insA, c.390C>G, c.169-172delAACA (human)
DNA:snps, duplication, deletions:exons:multiple (human)		 OMIM
CTD
ClinVar
MouseDO
RGD		 PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More... RGD:11535969, RGD:11535967, RGD:11535132, RGD:11535130, RGD:11535128, RGD:11535122 NCBI chr 5:108,048,388...108,056,871
Ensembl chr 5:108,048,368...108,056,871 		JBrowse link
Diamond-Blackfan anemia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl11 ribosomal protein L11 ISO
IAGP
IMP		 ClinVar Annotator: match by term: Diamond-Blackfan anemia 7
CTD Direct Evidence: marker/mechanism
OMIM:612562
DNA:deletions, snp:exons:c.60_61delCT, c.65delT, c.223C>T (human)
DNA:mutations:multiple (human)
DNA:deletions:exons:g.58_59delCT, g.460delA (human)
DNA:deletions, snp:exons, introns:multiple (human)
DNA:missense mutation, nonsense mutation:cds:p.L20H, p.Y119X (human)		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19773262 More... RGD:11535971, RGD:11535969, RGD:11535967, RGD:11535130, RGD:11535132, RGD:11535122 NCBI chr 4:135,776,665...135,780,704
Ensembl chr 4:135,755,576...135,780,739 		JBrowse link
Diamond-Blackfan anemia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adi1 acireductone dioxygenase 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr12:28,725,206...28,732,174
Ensembl chr12:28,725,230...28,732,174 		JBrowse link
G Colec11 collectin sub-family member 11 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr12:28,644,171...28,673,458
Ensembl chr12:28,644,172...28,673,376 		JBrowse link
G Rnaseh1 ribonuclease H1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr12:28,699,600...28,709,591
Ensembl chr12:28,699,601...28,709,588 		JBrowse link
G Rps7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 | ClinVar Annotator: match by term: RPS7-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:23718193 More... NCBI chr12:28,680,846...28,685,952
Ensembl chr12:28,680,853...28,685,952 		JBrowse link
G Trappc12 trafficking protein particle complex 12 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr12:28,740,619...28,801,746
Ensembl chr12:28,740,627...28,800,471 		JBrowse link
Diamond-Blackfan anemia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps10 ribosomal protein S10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 9		 OMIM
CTD
ClinVar		 PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532 NCBI chr17:27,849,389...27,854,218
Ensembl chr17:27,849,392...27,855,643 		JBrowse link
Diamond-Blackfan Anemia-Like term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epo erythropoietin ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia-like ClinVar
OMIM		 PMID:28283061 NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504 		JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia-like ClinVar PMID:28492532 PMID:29681510 PMID:34162668 NCBI chr11:11,634,970...11,722,930
Ensembl chr11:11,634,980...11,722,926 		JBrowse link
Fanconi anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace2 angiotensin converting enzyme 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:162,922,338...162,971,414
Ensembl chr  X:162,922,328...162,971,416 		JBrowse link
G Ankrd11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,610,060...123,769,023
Ensembl chr 8:123,610,561...123,769,016 		JBrowse link
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia		 ClinVar PMID:1574115 PMID:1641028 PMID:7689011 PMID:08103176 PMID:08128956 More... NCBI chr13:63,112,707...63,473,910
Ensembl chr13:63,112,707...63,473,910 		JBrowse link
G Ap1s2 adaptor-related protein complex 1, sigma 2 subunit ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:162,691,427...162,716,662
Ensembl chr  X:162,692,013...162,716,662 		JBrowse link
G Asb11 ankyrin repeat and SOCS box-containing 11 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:163,219,976...163,242,166
Ensembl chr  X:163,219,990...163,242,166 		JBrowse link
G Asb9 ankyrin repeat and SOCS box-containing 9 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:163,280,899...163,322,748
Ensembl chr  X:163,289,323...163,322,748 		JBrowse link
G Bmx BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:162,975,838...163,041,189
Ensembl chr  X:162,975,838...163,041,189 		JBrowse link
G Brca2 breast cancer 2, early onset susceptibility ISO DNA:mutation
ClinVar Annotator: match by term: Fanconi anemia		 ClinVar
RGD		 PMID:11030417 PMID:11185744 PMID:12491487 PMID:12955716 PMID:12960223 More... RGD:734658 NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794 		JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia		 CTD
ClinVar		 PMID:2455662 PMID:3375802 PMID:16116421 PMID:16116423 PMID:16116424 More... NCBI chr11:85,948,957...86,092,041
Ensembl chr11:85,948,964...86,092,019 		JBrowse link
G Brk1 BRICK1, SCAR/WAVE actin-nucleating complex subunit ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17436244 PMID:28492532 NCBI chr 6:113,581,733...113,593,912
Ensembl chr 6:113,581,733...113,593,912 		JBrowse link
G Car5b carbonic anhydrase 5b, mitochondrial ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:162,759,818...162,811,006
Ensembl chr  X:162,759,818...162,810,993 		JBrowse link
G Cdk10 cyclin dependent kinase 10 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,951,580...123,958,995
Ensembl chr 8:123,951,581...123,958,989 		JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,931,000...123,939,527
Ensembl chr 8:123,931,003...123,939,502 		JBrowse link
G Cltrn collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:162,873,183...162,901,855
Ensembl chr  X:162,871,826...162,901,856 		JBrowse link
G Cpne7 copine VII ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,844,054...123,861,924
Ensembl chr 8:123,844,113...123,861,921 		JBrowse link
G Dbndd1 dysbindin domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:124,231,744...124,245,535
Ensembl chr 8:124,231,457...124,242,202 		JBrowse link
G Def8 differentially expressed in FDCP 8 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:124,169,725...124,190,009
Ensembl chr 8:124,150,266...124,190,009 		JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,913,069...123,928,551
Ensembl chr 8:123,912,981...123,928,551 		JBrowse link
G Fanca Fanconi anemia, complementation group A disease_progression ISO DNA:missense mutations, splice-site mutations:exon, intron:multiple
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
CTD Direct Evidence: marker/mechanism
DNA:deletions, transitions:exon, intron:multiple		 ClinVar
CTD
RGD		 PMID:1792455 PMID:1927896 PMID:2472832 PMID:08896563 PMID:09371798 More... RGD:11344899, RGD:11344919, RGD:11344914 NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315 		JBrowse link
G Fancb Fanconi anemia, complementation group B ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar PMID:9536098 PMID:15502827 PMID:16199547 PMID:17576681 PMID:23613520 More... NCBI chr  X:163,763,678...163,780,266
Ensembl chr  X:163,763,588...163,780,268 		JBrowse link
G Fancc Fanconi anemia, complementation group C onset ISO DNA:insertion, missense, substitution mutations:cds:c.455_456dupA,c.996G>A, c.1390C>T(p.Q464X)(human)
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
CTD Direct Evidence: marker/mechanism
DNA:deletion: :322delG (human)		 ClinVar
CTD
RGD		 PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More... RGD:11041907, RGD:11344914 NCBI chr13:63,452,519...63,645,126
Ensembl chr13:63,432,857...63,645,092 		JBrowse link
G Fancd2 Fanconi anemia, complementation group D2 ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple		 ClinVar
CTD
RGD		 PMID:9536098 PMID:11239453 PMID:14667412 PMID:14695169 PMID:16199547 More... RGD:11344904, RGD:1601137 NCBI chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978 		JBrowse link
G Fancd2os Fancd2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia ClinVar PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17436244 More... NCBI chr 6:113,573,722...113,577,735
Ensembl chr 6:113,573,722...113,577,676 		JBrowse link
G Fance Fanconi anemia, complementation group E ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11001585 PMID:17924555 PMID:24728327 PMID:25741868 PMID:28492532 More... NCBI chr17:28,532,504...28,545,548
Ensembl chr17:28,532,493...28,545,546 		JBrowse link
G Fancf Fanconi anemia, complementation group F ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia		 ClinVar PMID:9382107 PMID:10615118 PMID:11063725 PMID:12649160 PMID:15262960 More... NCBI chr 7:51,510,325...51,512,015
Ensembl chr 7:51,510,325...51,512,015 		JBrowse link
G Fancg Fanconi anemia, complementation group G ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia		 CTD
ClinVar		 PMID:9536098 PMID:09806548 PMID:10567393 PMID:10807541 PMID:10961856 More... NCBI chr 4:43,002,337...43,010,565
Ensembl chr 4:43,002,343...43,010,506 		JBrowse link
G Fanci Fanconi anemia, complementation group I ISO DNA:mutations: :multiple
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia		 ClinVar
RGD		 PMID:9536098 PMID:15477547 PMID:15689359 PMID:16177225 PMID:16199547 More... RGD:11344925 NCBI chr 7:79,042,056...79,100,013
Ensembl chr 7:79,041,677...79,100,012 		JBrowse link
G Fancl Fanconi anemia, complementation group L ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia		 CTD
ClinVar		 PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More... NCBI chr11:26,337,084...26,421,883
Ensembl chr11:26,336,135...26,421,876 		JBrowse link
G Fancm Fanconi anemia, complementation group M ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia		 CTD
ClinVar		 PMID:2867840 PMID:9536098 PMID:16116422 PMID:16199547 PMID:17289582 More... NCBI chr12:65,120,884...65,178,616
Ensembl chr12:65,122,377...65,178,832 		JBrowse link
G Fkbp3 FK506 binding protein 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr12:65,109,206...65,120,712
Ensembl chr12:65,109,198...65,120,781 		JBrowse link
G Flt3l FMS-like tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr 7:44,780,607...44,785,914
Ensembl chr 7:44,779,212...44,785,856 		JBrowse link
G Fscb fibrous sheath CABYR binding protein ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr12:64,518,107...64,521,672
Ensembl chr12:64,518,104...64,521,464 		JBrowse link
G Gas8 growth arrest specific 8 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:124,245,630...124,263,394
Ensembl chr 8:124,245,573...124,263,389 		JBrowse link
G Gm527 predicted gene 527 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr12:64,964,685...64,971,365
Ensembl chr12:64,964,680...64,971,366 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 disease_progression ISO RGD PMID:16173971 RGD:10450839 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 treatment ISO RGD PMID:16173971 RGD:10450839 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Ifng interferon gamma ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Klhl28 kelch-like 28 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr12:64,985,603...65,012,365
Ensembl chr12:64,985,607...65,012,308 		JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:28492532 PMID:29098742 NCBI chr 8:124,133,839...124,137,483
Ensembl chr 8:124,133,846...124,137,483 		JBrowse link
G Mospd2 motile sperm domain containing 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:163,719,165...163,763,501
Ensembl chr  X:163,719,165...163,763,371 		JBrowse link
G Mx1 MX dynamin-like GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9389754 NCBI chr16:97,248,235...97,264,106
Ensembl chr16:97,248,235...97,264,107 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia ClinVar PMID:17200668 PMID:17200671 PMID:17200672 PMID:18302019 PMID:24136930 More... NCBI chr 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208 		JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:163,202,814...163,216,912
Ensembl chr  X:163,202,783...163,216,912 		JBrowse link
G Pir pirin ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:163,052,427...163,156,009
Ensembl chr  X:163,052,367...163,156,007 		JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110 		JBrowse link
G Prf1 perforin 1 (pore forming protein) ISO RGD PMID:21542827 RGD:6482802 NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459 		JBrowse link
G Prpf39 pre-mRNA processing factor 39 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr12:65,083,094...65,110,160
Ensembl chr12:65,083,107...65,110,160 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:23613520 PMID:28492532 PMID:31558676 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
G Rad51c RAD51 paralog C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia		 CTD
ClinVar		 PMID:20400963 PMID:20400964 PMID:20697805 PMID:20723205 PMID:21537932 More... NCBI chr11:87,267,471...87,295,780
Ensembl chr11:87,267,471...87,295,780 		JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,829,089...123,831,983
Ensembl chr 8:123,829,089...123,831,983 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia		 CTD
ClinVar		 PMID:2291166 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19596235 More... NCBI chr16:3,796,969...3,821,708
Ensembl chr16:3,796,969...3,821,634 		JBrowse link
G Spata2l spermatogenesis associated 2-like ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,958,994...123,962,997
Ensembl chr 8:123,956,540...123,962,972 		JBrowse link
G Spata33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,939,572...123,948,784
Ensembl chr 8:123,939,571...123,948,785 		JBrowse link
G Spire2 spire type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:19367192 PMID:25741868 PMID:28492532 PMID:29098742 NCBI chr 8:124,059,452...124,096,257
Ensembl chr 8:124,059,452...124,096,254 		JBrowse link
G Tcf25 transcription factor 25 (basic helix-loop-helix) ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:28492532 PMID:29098742 NCBI chr 8:124,097,511...124,130,913
Ensembl chr 8:124,100,492...124,130,574 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22628295 PMID:8438880 PMID:24021704 RGD:10450524, RGD:11049161 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Togaram1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr12:65,012,350...65,069,347
Ensembl chr12:65,012,578...65,069,347 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:124,138,292...124,148,754
Ensembl chr 8:124,138,163...124,148,754 		JBrowse link
G Usp1 ubiquitin specific peptidase 1 IAGP MouseDO NCBI chr 4:98,812,047...98,823,780
Ensembl chr 4:98,812,047...98,823,780 		JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507 		JBrowse link
G Vegfd vascular endothelial growth factor D ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:163,156,282...163,185,643
Ensembl chr  X:163,156,374...163,185,646 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17436244 PMID:28492532 NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594 		JBrowse link
G Vps9d1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,969,095...123,980,961
Ensembl chr 8:123,969,095...123,981,087 		JBrowse link
G Vrk2 vaccinia related kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:12973351 PMID:17938197 PMID:19111657 PMID:19405097 PMID:21279724 More... NCBI chr11:26,421,398...26,544,006
Ensembl chr11:26,421,322...26,543,999 		JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 276 ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia		 ClinVar PMID:9371798 PMID:9536098 PMID:9721219 PMID:10090479 PMID:10094191 More... NCBI chr 8:123,980,934...123,997,290
Ensembl chr 8:123,980,934...123,996,484 		JBrowse link
G Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:162,719,268...162,741,662
Ensembl chr  X:162,718,439...162,741,657 		JBrowse link
Fanconi anemia complementation group A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:08128956 PMID:08844212 PMID:8882868 PMID:9521584 PMID:09616183 More... NCBI chr13:63,112,707...63,473,910
Ensembl chr13:63,112,707...63,473,910 		JBrowse link
G Brca1 breast cancer 1, early onset ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:11157798 PMID:11802209 PMID:12496476 PMID:15235020 PMID:17279547 More... NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781 		JBrowse link
G Cdk10 cyclin dependent kinase 10 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 8:123,951,580...123,958,995
Ensembl chr 8:123,951,581...123,958,989 		JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 8:123,931,000...123,939,527
Ensembl chr 8:123,931,003...123,939,502 		JBrowse link
G Cpne7 copine VII ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 8:123,844,054...123,861,924
Ensembl chr 8:123,844,113...123,861,921 		JBrowse link
G Dmd dystrophin, muscular dystrophy ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 NCBI chr  X:81,858,244...84,248,656
Ensembl chr  X:81,992,476...84,249,747 		JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 8:123,913,069...123,928,551
Ensembl chr 8:123,912,981...123,928,551 		JBrowse link
G Fanca Fanconi anemia, complementation group A IAGP
ISO		 OMIM:227650
ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A		 MouseDO
ClinVar
OMIM		 PMID:1792455 PMID:1927896 PMID:2339692 PMID:2472832 PMID:08896563 More... NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315 		JBrowse link
G Fancb Fanconi anemia, complementation group B ISO ClinVar Annotator: match by term: Fanconi anemia, group A ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:163,763,678...163,780,266
Ensembl chr  X:163,763,588...163,780,268 		JBrowse link
G Fancc Fanconi anemia, complementation group C ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:08128956 PMID:08348157 PMID:08844212 PMID:8882868 PMID:9521584 More... NCBI chr13:63,452,519...63,645,126
Ensembl chr13:63,432,857...63,645,092 		JBrowse link
G Fancd2 Fanconi anemia, complementation group D2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:24728327 PMID:25168418 PMID:25741868 PMID:25927356 PMID:28492532 NCBI chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978 		JBrowse link
G Fancd2os Fancd2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 PMID:25927356 PMID:28492532 NCBI chr 6:113,573,722...113,577,735
Ensembl chr 6:113,573,722...113,577,676 		JBrowse link
G Fancg Fanconi anemia, complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:43,002,337...43,010,565
Ensembl chr 4:43,002,343...43,010,506 		JBrowse link
G Fanci Fanconi anemia, complementation group I ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:79,042,056...79,100,013
Ensembl chr 7:79,041,677...79,100,012 		JBrowse link
G Fancl Fanconi anemia, complementation group L ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 More... NCBI chr11:26,337,084...26,421,883
Ensembl chr11:26,336,135...26,421,876 		JBrowse link
G Fancm Fanconi anemia, complementation group M ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23932590 PMID:24003026 More... NCBI chr12:65,120,884...65,178,616
Ensembl chr12:65,122,377...65,178,832 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A | ClinVar Annotator: match by term: Fanconi anemia, group A ClinVar PMID:21240277 PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 More... NCBI chr16:3,796,969...3,821,708
Ensembl chr16:3,796,969...3,821,634 		JBrowse link
G Spata2l spermatogenesis associated 2-like ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 8:123,958,994...123,962,997
Ensembl chr 8:123,956,540...123,962,972 		JBrowse link
G Spata33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 8:123,939,572...123,948,784
Ensembl chr 8:123,939,571...123,948,785 		JBrowse link
G Vps9d1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 8:123,969,095...123,980,961
Ensembl chr 8:123,969,095...123,981,087 		JBrowse link
G Vrk2 vaccinia related kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 More... NCBI chr11:26,421,398...26,544,006
Ensembl chr11:26,421,322...26,543,999 		JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 276 ISO ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:9371798 PMID:09399890 PMID:9536098 PMID:09721219 PMID:10090479 More... NCBI chr 8:123,980,934...123,997,290
Ensembl chr 8:123,980,934...123,996,484 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25168418 NCBI chr 8:122,770,009...122,999,389
Ensembl chr 8:122,985,359...122,999,389 		JBrowse link
Fanconi anemia complementation group B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancb Fanconi anemia, complementation group B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B		 OMIM
CTD
ClinVar		 PMID:8368240 PMID:15502827 PMID:16679491 PMID:17924555 PMID:21910217 More... NCBI chr  X:163,763,678...163,780,266
Ensembl chr  X:163,763,588...163,780,268 		JBrowse link
Fanconi anemia complementation group C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Fanconi anemia complementation group C ClinVar PMID:1574115 PMID:1641028 PMID:7689011 PMID:08103176 PMID:08128956 More... NCBI chr13:63,112,707...63,473,910
Ensembl chr13:63,112,707...63,473,910 		JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Fanconi anemia complementation group C ClinVar PMID:25741868 NCBI chr 3:103,707,921...103,716,703
Ensembl chr 3:103,707,921...103,716,760 		JBrowse link
G Fancc Fanconi anemia, complementation group C ISO
IAGP		 ClinVar Annotator: match by term: Fanconi anemia complementation group C
CTD Direct Evidence: marker/mechanism
OMIM:227645		 OMIM
ClinVar
CTD
MouseDO		 PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More... NCBI chr13:63,452,519...63,645,126
Ensembl chr13:63,432,857...63,645,092 		JBrowse link
Fanconi anemia complementation group D1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 breast cancer 2, early onset susceptibility IAGP
ISO		 OMIM:605724
ClinVar Annotator: match by term: Fanconi anemia complementation group D1
CTD Direct Evidence: marker/mechanism		 MouseDO
OMIM
ClinVar
CTD		 PMID:1234 PMID:184056 PMID:251866 PMID:278235 PMID:668580 More... NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794 		JBrowse link
Fanconi anemia complementation group D2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancd2 Fanconi anemia, complementation group D2 ISO
IAGP		 ClinVar Annotator: match by term: Fanconi anemia complementation group D2
CTD Direct Evidence: marker/mechanism
OMIM:227646		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17308347 More... NCBI chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978 		JBrowse link
G Fancd2os Fancd2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D2 ClinVar PMID:11239453 PMID:16199547 PMID:16280053 PMID:17436244 PMID:23285130 More... NCBI chr 6:113,573,722...113,577,735
Ensembl chr 6:113,573,722...113,577,676 		JBrowse link
Fanconi anemia complementation group E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fance Fanconi anemia, complementation group E ISO ClinVar Annotator: match by term: Fanconi anemia complementation group E
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7662964 PMID:9382107 PMID:9536098 PMID:10205272 PMID:11001585 More... NCBI chr17:28,532,504...28,545,548
Ensembl chr17:28,532,493...28,545,546 		JBrowse link
Fanconi anemia complementation group F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancf Fanconi anemia, complementation group F ISO ClinVar Annotator: match by term: Fanconi anemia complementation group F
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9382107 PMID:10615118 PMID:11063725 PMID:12649160 PMID:15262960 More... NCBI chr 7:51,510,325...51,512,015
Ensembl chr 7:51,510,325...51,512,015 		JBrowse link
Fanconi anemia complementation group G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancg Fanconi anemia, complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia complementation group G
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:09806548 PMID:10567393 PMID:10807541 PMID:10961856 More... NCBI chr 4:43,002,337...43,010,565
Ensembl chr 4:43,002,343...43,010,506 		JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Fanconi anemia complementation group G ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507 		JBrowse link
Fanconi anemia complementation group I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci Fanconi anemia, complementation group I ISO ClinVar Annotator: match by term: Fanconi anemia complementation group I
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon, intron:multiple		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:16199547 PMID:17412408 PMID:17452773 PMID:17460694 More... RGD:11344924 NCBI chr 7:79,042,056...79,100,013
Ensembl chr 7:79,041,677...79,100,012 		JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: Fanconi anemia complementation group I ClinVar PMID:18414213 PMID:22778927 PMID:23524600 PMID:25741868 PMID:26467025 More... NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110 		JBrowse link
Fanconi anemia complementation group J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brip1 BRCA1 interacting protein C-terminal helicase 1 susceptibility ISO DNA:nonsense mutation:cds:p.R798* (human)
ClinVar Annotator: match by term: Fanconi anemia complementation group J
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:2455662 PMID:3375802 PMID:9536098 PMID:11301010 PMID:12565990 More... RGD:11251781 NCBI chr11:85,948,957...86,092,041
Ensembl chr11:85,948,964...86,092,019 		JBrowse link
Fanconi anemia complementation group L term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancl Fanconi anemia, complementation group L ISO ClinVar Annotator: match by term: Fanconi anemia complementation group L
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More... NCBI chr11:26,337,084...26,421,883
Ensembl chr11:26,336,135...26,421,876 		JBrowse link
G Vrk2 vaccinia related kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group L ClinVar PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 More... NCBI chr11:26,421,398...26,544,006
Ensembl chr11:26,421,322...26,543,999 		JBrowse link
Fanconi Anemia Complementation Group M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancm Fanconi anemia, complementation group M ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group M ClinVar PMID:16116422 PMID:19423727 PMID:19737859 PMID:25741868 PMID:28492532 More... NCBI chr12:65,120,884...65,178,616
Ensembl chr12:65,122,377...65,178,832 		JBrowse link
Fanconi anemia complementation group N term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Palb2 partner and localizer of BRCA2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia complementation group N		 CTD
OMIM
ClinVar		 PMID:100849 PMID:16793542 PMID:17200668 PMID:17200671 PMID:17200672 More... NCBI chr 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208 		JBrowse link
Fanconi anemia complementation group O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsf5 heat shock transcription factor family member 5 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr11:87,507,225...87,550,715
Ensembl chr11:87,507,990...87,550,368 		JBrowse link
G Mtmr4 myotubularin related protein 4 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr11:87,482,769...87,507,128
Ensembl chr11:87,482,988...87,507,128 		JBrowse link
G Rad51c RAD51 paralog C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia complementation group O | ClinVar Annotator: match by term: RAD51C-related condition		 CTD
OMIM
ClinVar		 PMID:122156 PMID:1241858 PMID:1731253 PMID:2159791 PMID:2927873 More... NCBI chr11:87,267,471...87,295,780
Ensembl chr11:87,267,471...87,295,780 		JBrowse link
G Rnf43 ring finger protein 43 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr11:87,553,913...87,626,365
Ensembl chr11:87,553,548...87,626,365 		JBrowse link
G Septin4 septin 4 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr11:87,457,515...87,481,365
Ensembl chr11:87,457,479...87,481,365 		JBrowse link
G Tex14 testis expressed gene 14 intercellular bridge forming factor ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr11:87,295,839...87,446,649
Ensembl chr11:87,295,891...87,446,649 		JBrowse link
Fanconi anemia complementation group P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slx4 SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Fanconi anemia complementation group P
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:21240275 PMID:21240277 PMID:21805310 More... NCBI chr16:3,796,969...3,821,708
Ensembl chr16:3,796,969...3,821,634 		JBrowse link
Fanconi anemia complementation group Q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc4 excision repair cross-complementing rodent repair deficiency, complementation group 4 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group Q
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8797827 PMID:9485007 PMID:9579555 PMID:15159313 PMID:15886521 More... NCBI chr16:12,927,600...12,969,873
Ensembl chr16:12,927,548...12,968,481 		JBrowse link
Fanconi anemia complementation group R term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rad51 RAD51 recombinase ISO ClinVar Annotator: match by term: Fanconi anemia complementation group R
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:15908697 PMID:25741868 PMID:26253028 PMID:26681308 NCBI chr 2:118,943,295...118,966,554
Ensembl chr 2:118,943,274...118,977,926 		JBrowse link
Fanconi Anemia Complementation Group S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca1 breast cancer 1, early onset ISO ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP S | ClinVar Annotator: match by term: Fanconi anemia, complementation group S ClinVar
OMIM		 PMID:1514655 PMID:2618727 PMID:3347199 PMID:7493024 PMID:7545954 More... NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781 		JBrowse link
Fanconi anemia complementation group T term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lgr6 leucine-rich repeat-containing G protein-coupled receptor 6 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group T ClinVar PMID:26046368 NCBI chr 1:134,911,038...135,033,112
Ensembl chr 1:134,911,039...135,033,014 		JBrowse link
G Ube2t ubiquitin-conjugating enzyme E2T ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia complementation group T		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26046368 PMID:26119737 PMID:28492532 NCBI chr 1:134,890,303...134,901,918
Ensembl chr 1:134,890,303...134,901,900 		JBrowse link
Fanconi anemia complementation group U term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xrcc2 X-ray repair complementing defective repair in Chinese hamster cells 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group U
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11118202 PMID:19690184 PMID:22232082 PMID:22464251 PMID:23054243 More... NCBI chr 5:25,894,812...25,910,795
Ensembl chr 5:25,894,810...25,910,823 		JBrowse link
Fanconi anemia complementation group V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mad2l2 MAD2 mitotic arrest deficient-like 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group V
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:27500492 NCBI chr 4:148,214,615...148,230,161
Ensembl chr 4:148,214,841...148,230,156 		JBrowse link
Fanconi Anemia Complementation Group W term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rfwd3 ring finger and WD repeat domain 3 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group W OMIM
ClinVar		 PMID:25741868 PMID:26474068 PMID:28492532 PMID:28691929 PMID:33044890 NCBI chr 8:111,997,576...112,026,854
Ensembl chr 8:111,997,576...112,026,854 		JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia		 OMIM
CTD
ClinVar		 PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr 9:123,196,001...123,291,731
Ensembl chr 9:123,195,992...123,291,731 		JBrowse link
Hypochromic Microcytic Anemia with Iron Overload 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc11a2 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 ISO ClinVar Annotator: match by term: SLC11A2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:35457224 NCBI chr15:100,285,779...100,322,090
Ensembl chr15:100,285,779...100,322,953 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr16:16,130,092...16,176,863
Ensembl chr16:16,130,094...16,176,823 		JBrowse link
G Pus1 pseudouridine synthase 1 IAGP
ISO		 OMIM:500011 | OMIM:600462 | OMIM:613561
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD		 PMID:25741868 PMID:28492532 NCBI chr 5:110,921,533...110,928,523
Ensembl chr 5:110,921,533...110,928,525 		JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 (mitochondrial) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr16:16,120,829...16,127,504
Ensembl chr16:16,120,829...16,127,504 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pus1 pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 | ClinVar Annotator: match by term: PUS1-related condition OMIM
ClinVar		 PMID:7726239 PMID:9536098 PMID:14981724 PMID:15108122 PMID:15772074 More... NCBI chr 5:110,921,533...110,928,523
Ensembl chr 5:110,921,533...110,928,525 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:16,130,092...16,176,863
Ensembl chr16:16,130,094...16,176,823 		JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 OMIM
ClinVar		 PMID:12075011 PMID:20598274 PMID:22504945 PMID:23918765 PMID:24088041 More... NCBI chr16:16,120,829...16,127,504
Ensembl chr16:16,120,829...16,127,504 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Atp6 ATP synthase 6, mitochondrial ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3 ClinVar PMID:25037980 PMID:27812026 PMID:29350304 NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607 		JBrowse link
pure red-cell aplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphisms, haplotype:cds:HLA-DQB1*0309 (human) RGD PMID:18689790 RGD:11041748 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphisms, haplotype:cds:HLA-DRB1*09 (human) RGD PMID:18689790 RGD:11041748 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO mRNA:increased expression:liver RGD PMID:25580431 RGD:11041717 NCBI chr 7:30,641,793...30,643,454
Ensembl chr 7:30,641,793...30,643,457 		JBrowse link
sideroblastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP-binding cassette, sub-family B member 7 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16892088 PMID:18637800 PMID:18398482 RGD:11038732 NCBI chr  X:103,324,171...103,457,452
Ensembl chr  X:103,324,263...103,457,462 		JBrowse link
G Alad aminolevulinate, delta-, dehydratase IDA protein:decreased activity:kidney, liver, spleen RGD PMID:5891055 RGD:12904678 NCBI chr 4:62,422,762...62,438,300
Ensembl chr 4:62,427,406...62,438,155 		JBrowse link
G Alas2 aminolevulinic acid synthase 2, erythroid susceptibility ISO DNA:transversion:cds:p.F165L (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16716198 PMID:16892088 PMID:7949148 RGD:1599037 NCBI chr  X:149,330,443...149,353,614
Ensembl chr  X:149,330,371...149,353,634 		JBrowse link
G Calr calreticulin ISO DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human) RGD PMID:24325359 RGD:11352763 NCBI chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563 		JBrowse link
G Gdf15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19036111 NCBI chr 8:71,082,043...71,085,106
Ensembl chr 8:71,082,043...71,085,106 		JBrowse link
G Glrx5 glutaredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18637800 NCBI chr12:104,998,877...105,007,170
Ensembl chr12:104,998,947...105,009,165 		JBrowse link
G Hspa9 heat shock protein 9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:35,070,467...35,087,404
Ensembl chr18:35,070,467...35,087,410 		JBrowse link
G mt-Co1 cytochrome c oxidase I, mitochondrial ISO ClinVar Annotator: match by term: Acquired idiopathic sideroblastic anemia ClinVar PMID:9389715 PMID:32906214 NCBI chr MT:5,328...6,872
Ensembl chr MT:5,328...6,872 		JBrowse link
G Pus1 pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:110,921,533...110,928,523
Ensembl chr 5:110,921,533...110,928,525 		JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19412178 NCBI chr 9:119,939,428...119,953,570
Ensembl chr 9:119,939,440...119,953,570 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:16910769 PMID:21326867 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Tfrc transferrin receptor IEP mRNA,protein:increased expression:erythroblast: RGD PMID:21326867 RGD:11062136 NCBI chr16:32,427,714...32,451,612
Ensembl chr16:32,427,738...32,451,612 		JBrowse link
sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas2 aminolevulinic acid synthase 2, erythroid onset ISO ClinVar Annotator: match by term: ALAS2-related condition | ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.R452H, R452C, K156E(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)
DNA:mutations:exons:p.K299Q,A172T(human)		 OMIM
ClinVar
CTD
RGD		 PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 More... RGD:11035244, RGD:11035243, RGD:11035241 NCBI chr  X:149,330,443...149,353,614
Ensembl chr  X:149,330,371...149,353,634 		JBrowse link
G Apex2 apurinic/apyrimidinic endonuclease 2 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar NCBI chr  X:149,286,625...149,371,175
Ensembl chr  X:149,302,515...149,372,864 		JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:119,939,428...119,953,570
Ensembl chr 9:119,939,440...119,953,570 		JBrowse link
Sideroblastic Anemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hscb HscB iron-sulfur cluster co-chaperone ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 5 OMIM
ClinVar		 PMID:32634119 NCBI chr 5:110,976,945...110,987,647
Ensembl chr 5:110,976,936...110,987,643 		JBrowse link
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trnt1 tRNA nucleotidyl transferase, CCA-adding, 1 ISO ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay OMIM
ClinVar		 PMID:2649490 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 6:106,746,099...106,759,435
Ensembl chr 6:106,746,081...106,759,435 		JBrowse link
X-linked sideroblastic anemia with ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP-binding cassette, sub-family B member 7 susceptibility ISO DNA:missense mutation: :p.I400M (human)
ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.V411L (1299G>C) (human)
DNA:missense mutation:exon:p.E433K (1305G>A) (human)		 ClinVar
CTD
OMIM
RGD		 PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11843825 More... RGD:1598600, RGD:11038735, RGD:11038734 NCBI chr  X:103,324,171...103,457,452
Ensembl chr  X:103,324,263...103,457,462 		JBrowse link
G Alas2 aminolevulinic acid synthase 2, erythroid ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia ClinVar NCBI chr  X:149,330,443...149,353,614
Ensembl chr  X:149,330,371...149,353,634 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18302
    disease of anatomical entity 15634
      hematopoietic system disease 3274
        bone marrow disease 763
          Bone Marrow Failure Disorders 309
            aplastic anemia 283
              Aplastic Anemia, Idiopathic 0
              Bone Marrow Failure Syndrome 1 1
              WT Limb Blood Syndrome 0
              congenital hypoplastic anemia + 239
              myelophthisic anemia 0
              sideroblastic anemia + 21
Path 2
Term Annotations click to browse term
  disease 18302
    disease of anatomical entity 15634
      Hemic and Lymphatic Diseases 3776
        hematopoietic system disease 3274
          anemia 790
            normocytic anemia 687
              aplastic anemia 283
                Aplastic Anemia, Idiopathic 0
                Bone Marrow Failure Syndrome 1 1
                WT Limb Blood Syndrome 0
                congenital hypoplastic anemia + 239
                myelophthisic anemia 0
                sideroblastic anemia + 21
paths to the root