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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:iron deficiency anemia
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Accession:DOID:11758 term browser browse the term
Definition:A nutritional deficiency disease that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells. (DO)
Synonyms:exact_synonym: iron deficiency anemias
 primary_id: MESH:D018798
 xref: ICD9CM:280.8
For additional species annotation, visit the Alliance of Genome Resources.



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iron deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APP amyloid beta precursor protein ISO mRNA:decreased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr13:189,434,854...189,716,120
Ensembl chr13:189,435,094...189,716,056
JBrowse link
G ATP7A ATPase copper transporting alpha severity ISO DNA:deletion:cds:p.A799_L800del (mouse)
mRNA:increased expression:small intestine mucosa (rat)
mRNA:increased expression:duodenum (mouse)
RGD PMID:15637178 PMID:23776592 RGD:11252172 RGD:2315589 NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,991...62,110,048
JBrowse link
G C1QA complement C1q A chain ISO mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr 6:80,586,259...80,589,213
Ensembl chr 6:80,586,280...80,589,204
JBrowse link
G CRP C-reactive protein, pentraxin-related ISO protein:increased expression:plasma RGD PMID:19730160 RGD:5131463 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
JBrowse link
G CST3 cystatin C ISO mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr17:30,471,056...30,474,486
Ensembl chr17:30,470,855...30,474,590
JBrowse link
G FN1 fibronectin 1 ISO mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014
JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO associated with Renal Insufficiency, Chronic RGD PMID:7861256 PMID:24691014 RGD:11352760 RGD:11352819 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433
JBrowse link
G GSR glutathione-disulfide reductase ISO protein:increased activity:plasma: RGD PMID:25097522 RGD:11059505 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,984
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:17218383 PMID:22457245 RGD:11041606 RGD:11041634 NCBI chr 6:44,785,863...44,787,303
Ensembl chr 6:44,784,160...44,787,305
JBrowse link
G HFE homeostatic iron regulator ISO associated with celiac disease;DNA:missense mutations: :p.H63D, p.C282Y (human) RGD PMID:29194702 RGD:14701052 NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,767,000
JBrowse link
G HP haptoglobin ISO protein:decreased expression:serum RGD PMID:647925 RGD:11041798 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G IL6 interleukin 6 ISO associated with Renal Insufficiency, Chronic;protein:increased expression:heart, kidney (rat) RGD PMID:18808386 RGD:11062011 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
JBrowse link
G IREB2 iron responsive element binding protein 2 ISO protein:altered activity:intestinal villus of duodenum (rat)
mRNA:increased expression:duodenal mucosa (rat)
RGD PMID:10095770 PMID:18549630 RGD:12904038 RGD:12910699 NCBI chr 7:47,481,539...47,529,199
Ensembl chr 7:47,478,706...47,529,242
JBrowse link
G ITGA2 integrin subunit alpha 2 ISO DNA:SNP: :807C>T (human) RGD PMID:12225391 RGD:11530068 NCBI chr16:32,336,240...32,440,311
Ensembl chr16:32,336,292...32,437,103
JBrowse link
G KAT5 lysine acetyltransferase 5 ISO mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr 2:6,560,544...6,572,461
Ensembl chr 2:6,560,513...6,572,466
JBrowse link
G PON1 paraoxonase 1 treatment ISO protein:decreased activity:serum (human) RGD PMID:16684543 PMID:26926576 RGD:11552586 RGD:11553834 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723
JBrowse link
G SLC11A2 solute carrier family 11 member 2 ISO protein:increased expression:nasal cavity olfactory epithelium
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17116712 PMID:17116743 RGD:2311409
G SLC4A1 solute carrier family 4 member 1 ISO protein:decreased expression:erythrocyte, membrane (rat) RGD PMID:1317772 RGD:10450513 NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,807...18,974,208
JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17057260 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
JBrowse link
G TF transferrin susceptibility ISO DNA:missense mutation:exon:p.G277S
ClinVar Annotator: match by term: Iron deficiency anemia
RGD
ClinVar
PMID:11703331 PMID:12752114 PMID:16398662 PMID:28492532 RGD:1601513 NCBI chr13:74,930,655...74,970,599
Ensembl chr13:74,930,655...74,972,763
JBrowse link
G TFRC transferrin receptor ISO mRNA:increased expression:placenta:
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:
RGD
CTD
PMID:15104997 PMID:16733738 PMID:17162259 PMID:17163184 PMID:17877204 More... RGD:11062096 RGD:11062104 RGD:11062105 NCBI chr13:133,976,765...133,997,554
Ensembl chr13:133,970,985...134,000,276
JBrowse link
G TMPRSS6 transmembrane serine protease 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18408718 PMID:22169218 NCBI chr 5:10,663,491...10,704,583
Ensembl chr 5:10,663,635...10,705,471
JBrowse link
G TNF tumor necrosis factor ISO DNA:SNP:promoter:rs1800629 (human) RGD PMID:18716131 RGD:10450563 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
central conducting lymphatic anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 OMIM
ClinVar
PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29905864 NCBI chr 3:8,671,052...8,689,778
Ensembl chr 3:8,668,859...8,689,783
JBrowse link
G SLC12A9 solute carrier family 12 member 9 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:8,696,593...8,712,904
Ensembl chr 3:8,697,439...8,712,918
JBrowse link
dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNN4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema ClinVar PMID:25741868 NCBI chr 6:50,580,016...50,593,518
Ensembl chr 6:50,580,022...50,593,544
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH OMIM
ClinVar
PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 More... NCBI chr 6:914,480...967,113
Ensembl chr 6:914,709...967,111
JBrowse link
fetal erythroblastosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERMAP erythroblast membrane associated protein ISO ClinVar Annotator: match by term: Radin blood group ClinVar PMID:12393480 NCBI chr 6:168,596,522...168,643,437
Ensembl chr 6:168,595,907...168,621,952
JBrowse link
G POLR1C RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr 7:38,511,521...38,531,938
Ensembl chr 7:38,507,073...38,537,943
JBrowse link
G SLC14A1 solute carrier family 14 member 1 (Kidd blood group) ISO ClinVar Annotator: match by term: BLOOD GROUP--KIDD SYSTEM ClinVar NCBI chr 1:95,354,848...95,381,492
Ensembl chr 1:95,355,016...95,381,489
JBrowse link
G SLC29A1 solute carrier family 29 member 1 (Augustine blood group) ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr 7:39,217,974...39,234,683
Ensembl chr 7:39,218,051...39,234,685
JBrowse link
Greenberg dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBR lamin B receptor ISO ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia OMIM
ClinVar
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:24033266 More... NCBI chr10:13,389,896...13,416,831
Ensembl chr10:13,386,946...13,416,759
JBrowse link
Hydrops Fetalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674
JBrowse link
G ALB albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696
JBrowse link
G ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 3:37,664,182...37,689,502
Ensembl chr 3:37,650,256...37,689,500
JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349
JBrowse link
G C9H1orf105 chromosome 9 C1orf105 homolog ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 9:114,828,414...114,850,267
Ensembl chr 9:114,814,030...114,851,040
JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr 1:161,320,627...161,556,539
Ensembl chr 1:161,321,273...161,556,537
JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr15:80,673,072...80,692,256
Ensembl chr15:80,673,067...80,692,208
JBrowse link
G CTSA cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr17:48,082,480...48,089,971
Ensembl chr17:48,082,448...48,089,971
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 6:157,483,794...157,519,060
Ensembl chr 6:157,483,783...157,519,061
JBrowse link
G DNAH14 dynein axonemal heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr10:13,048,002...13,389,497
Ensembl chr10:13,104,564...13,389,992
JBrowse link
G DNAH9 dynein axonemal heavy chain 9 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr12:56,045,079...56,366,327
Ensembl chr12:56,045,381...56,358,236
JBrowse link
G EHBP1L1 EH domain binding protein 1 like 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 2:6,662,460...6,678,721
Ensembl chr 2:6,662,463...6,678,888
JBrowse link
G FCRL4 Fc receptor like 4 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 4:92,542,380...92,570,481
Ensembl chr 4:92,543,263...92,567,723
JBrowse link
G FEN1 flap structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 2:9,752,004...9,756,863
Ensembl chr 2:9,752,013...9,756,728
JBrowse link
G FOXC2 forkhead box C2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 6:2,552,141...2,555,041
Ensembl chr 6:2,552,862...2,554,367
JBrowse link
G FOXP3 forkhead box P3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11137992 PMID:11295725 PMID:25546394 PMID:25741868 PMID:28492532 More... NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968
JBrowse link
G FZD6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr 4:33,811,159...33,844,556
Ensembl chr 4:33,809,809...33,844,656
JBrowse link
G GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:108,223,315...108,439,602
Ensembl chr 3:108,223,996...108,440,189
JBrowse link
G GUSB glucuronidase beta ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:1702266 PMID:7573038 PMID:7680524 PMID:8644704 PMID:9099834 More... NCBI chr 3:16,672,071...16,686,520
Ensembl chr 3:16,671,389...16,689,203
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16443854 PMID:17384584 More... NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495
JBrowse link
G KIF19 kinesin family member 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr12:6,775,695...6,803,066
Ensembl chr12:6,775,705...6,803,014
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:24549645 PMID:25741868 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16443854 PMID:17384584 More... NCBI chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699
JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33258288 NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397
JBrowse link
G MOCS3 molybdenum cofactor synthesis 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr17:52,377,343...52,379,711
Ensembl chr17:52,377,348...52,380,260
JBrowse link
G MYBPHL myosin binding protein H like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 4:110,792,628...110,809,479
Ensembl chr 4:110,793,408...110,808,248
JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 PMID:28492532 NCBI chr 6:103,451,206...103,593,093
Ensembl chr 6:103,451,343...103,597,297
JBrowse link
G MYRF myelin regulatory factor ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 2:9,761,230...9,795,873 JBrowse link
G NEB nebulin ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:18330676 PMID:25205138 PMID:26036949 PMID:26841830 PMID:28492532 NCBI chr15:546,187...766,131
Ensembl chr15:546,173...766,125
JBrowse link
G NEU1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr 7:23,953,721...23,958,659
Ensembl chr 7:23,947,061...23,958,666
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 2:80,649,882...80,810,934
Ensembl chr 2:80,654,379...80,809,059
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:28492532 PMID:30244526 PMID:31680349 NCBI chr 6:914,480...967,113
Ensembl chr 6:914,709...967,111
JBrowse link
G PIGC phosphatidylinositol glycan anchor biosynthesis class C ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 9:114,824,795...114,827,731
Ensembl chr 9:114,824,802...114,827,413
JBrowse link
G PRPF19 pre-mRNA processing factor 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 2:10,851,779...10,860,315
Ensembl chr 2:10,851,579...10,860,836
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 More... NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003
JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:23791108 PMID:24469055 PMID:25124994 PMID:25741868 PMID:26242988 More... NCBI chr 4:94,117,721...94,127,882
Ensembl chr 4:94,117,882...94,127,384
JBrowse link
G ROCK2 Rho associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 3:125,353,063...125,493,368
Ensembl chr 3:125,352,920...125,493,362
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:20583297 PMID:20839240 More... NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458
JBrowse link
G RYR3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr 7:80,640,030...81,208,576
Ensembl chr 7:80,640,123...81,208,491
JBrowse link
G SERPINA11 serpin family A member 11 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 7:115,666,071...115,681,890
Ensembl chr 7:115,666,070...115,681,790
JBrowse link
G SFTPA1 surfactant protein A1 ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,095,393
JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30348783 NCBI chr14:121,347,938...121,444,144
Ensembl chr14:121,349,059...121,444,136
JBrowse link
G SLC26A3 solute carrier family 26 member 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:9718329 PMID:21394828 PMID:25741868 PMID:31680349 NCBI chr 9:107,480,629...107,518,771
Ensembl chr 9:107,480,641...107,518,728
JBrowse link
G SVOPL SVOP like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr18:10,968,717...11,045,365
Ensembl chr18:10,968,790...11,043,021
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr11:15,668,435...15,698,031
Ensembl chr11:15,668,813...15,697,872
JBrowse link
G UBN1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:37,512,306...37,555,255
Ensembl chr 3:37,512,313...37,555,203
JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 6:72,256,865...72,514,256
Ensembl chr 6:72,256,828...72,510,058
JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARS2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia OMIM
ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr13:28,524,778...28,692,327
Ensembl chr13:28,524,796...28,692,327
JBrowse link
hypochromic microcytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRX5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr 6:30,511,263...30,515,015
Ensembl chr 6:30,511,894...30,514,808
JBrowse link
G TF transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11110675 NCBI chr13:74,930,655...74,970,599
Ensembl chr13:74,930,655...74,972,763
JBrowse link
G TFRC transferrin receptor ISO mRNA,protein:decreased expression: erythrocyte: RGD PMID:18552213 RGD:11062089 NCBI chr13:133,976,765...133,997,554
Ensembl chr13:133,970,985...134,000,276
JBrowse link
G TNF tumor necrosis factor ISO associated with Arthritis, Rheumatoid RGD PMID:18205195 RGD:10450526 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
Hypochromic Microcytic Anemia with Iron Overload term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC11A2 solute carrier family 11 member 2 ISO ClinVar Annotator: match by term: Microcytic anemia with liver iron overload ClinVar PMID:15459009 PMID:16023393 PMID:16091455 PMID:16140868 PMID:16160008 More...
G STEAP3 STEAP3 metalloreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:24,736,556...24,785,376
Ensembl chr15:24,736,594...24,787,865
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 member 2 ISO OMIM
Hypochromic Microcytic Anemia with Iron Overload 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STEAP3 STEAP3 metalloreductase ISO ClinVar Annotator: match by term: Hypochromic microcytic anemia with iron overload 2 OMIM
ClinVar
PMID:22031863 NCBI chr15:24,736,556...24,785,376
Ensembl chr15:24,736,594...24,787,865
JBrowse link
Lymphatic Malformation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALCRL calcitonin receptor like receptor ISO ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar
PMID:25741868 NCBI chr15:92,233,264...92,332,459
Ensembl chr15:92,233,841...92,332,386
JBrowse link
microcytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMPRSS6 transmembrane serine protease 6 ISO ClinVar Annotator: match by term: Iron-refractory iron deficiency anemia | ClinVar Annotator: match by term: Microcytic anemia OMIM
ClinVar
PMID:18408718 PMID:18596229 PMID:19357398 PMID:19592582 PMID:19818657 More... NCBI chr 5:10,663,491...10,704,583
Ensembl chr 5:10,663,635...10,705,471
JBrowse link
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IREB2 iron responsive element binding protein 2 ISO ClinVar Annotator: match by term: Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia OMIM
ClinVar
PMID:25741868 PMID:30915432 PMID:31243445 NCBI chr 7:47,481,539...47,529,199
Ensembl chr 7:47,478,706...47,529,242
JBrowse link
Nuchal Bleb, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFTR CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:28492532 PMID:29879995 PMID:31036917 PMID:32357917 NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 More... NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Nuchal bleb, familial ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 More... NCBI chr 3:101,209,568...101,366,057
Ensembl chr 3:101,209,641...101,362,723
JBrowse link
sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAS2 5'-aminolevulinate synthase 2 onset ISO 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
DNA:mutation:exon: 1236 G> A, p.C395Y (human)
DNA:mutations:exons:p.K299Q,A172T(human)
OMIM
ClinVar
RGD
PMID:1570328 PMID:7560104 PMID:7705839 PMID:7949148 PMID:8107717 More... RGD:11035241 RGD:11035243 NCBI chr  X:47,871,519...47,896,041
Ensembl chr  X:47,871,523...47,896,000
JBrowse link
G APEX2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar NCBI chr  X:47,862,682...47,870,579
Ensembl chr  X:47,862,667...47,871,184
JBrowse link
G PAGE2B PAGE family member 2B ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar PMID:12663458 PMID:18823803 PMID:23315997 PMID:28492532 NCBI chr  X:47,916,076...47,919,904
Ensembl chr  X:47,916,069...47,919,898
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:28492532 NCBI chr13:24,030,571...24,043,866
Ensembl chr13:24,030,653...24,044,782
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14396
    disease of anatomical entity 14114
      hematopoietic system disease 2596
        anemia 620
          hypochromic anemia 89
            iron deficiency anemia 89
              microcytic anemia + 72
Path 2
Term Annotations click to browse term
  disease 14396
    Nutritional and Metabolic Diseases 5592
      disease of metabolism 5592
        acquired metabolic disease 1863
          nutrition disease 814
            Malnutrition 288
              nutritional deficiency disease 279
                iron deficiency anemia 89
                  microcytic anemia + 72
paths to the root