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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 (A4) precursor protein ISO mRNA:decreased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr16:84,751,236...84,972,187
Ensembl chr16:84,746,573...84,970,654
JBrowse link
G Atp7a ATPase, Cu++ transporting, alpha polypeptide severity IEP
IAGP
ISO
mRNA:increased expression:duodenum (mouse)
DNA:deletion:cds:p.A799_L800del (mouse)
mRNA:increased expression:small intestine mucosa (rat)
RGD PMID:23776592 PMID:23776592 PMID:15637178 RGD:11252172, RGD:11252172, RGD:2315589 NCBI chr  X:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532
JBrowse link
G C1qa complement component 1, q subcomponent, alpha polypeptide ISO mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr 4:136,623,227...136,626,155
Ensembl chr 4:136,623,228...136,626,114
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO protein:increased expression:plasma RGD PMID:19730160 RGD:5131463 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
JBrowse link
G Cst3 cystatin C ISO mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr 2:148,713,642...148,717,432
Ensembl chr 2:148,713,642...148,717,612
JBrowse link
G Fn1 fibronectin 1 ISO mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO associated with Renal Insufficiency, Chronic RGD PMID:7861256 PMID:24691014 RGD:11352760, RGD:11352819 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542
JBrowse link
G Gsr glutathione reductase ISO protein:increased activity:plasma: RGD PMID:25097522 RGD:11059505 NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191
JBrowse link
G Hamp hepcidin antimicrobial peptide IMP
ISO
mRNA:decreased expression:liver RGD PMID:17218383 PMID:22457245 RGD:11041606, RGD:11041634 NCBI chr 7:30,641,793...30,643,454
Ensembl chr 7:30,641,793...30,643,457
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 chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837
JBrowse link
G Hp haptoglobin ISO protein:decreased expression:serum RGD PMID:647925 RGD:11041798 NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
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 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
JBrowse link
G Ireb2 iron responsive element binding protein 2 ISO mRNA:increased expression:duodenal mucosa (rat)
protein:altered activity:intestinal villus of duodenum (rat)
RGD PMID:18549630 PMID:10095770 RGD:12904038, RGD:12910699 NCBI chr 9:54,769,942...54,819,818
Ensembl chr 9:54,771,073...54,819,814
JBrowse link
G Itga2 integrin alpha 2 ISO DNA:SNP: :807C>T (human) RGD PMID:12225391 RGD:11530068 NCBI chr13:114,969,617...115,068,636
Ensembl chr13:114,969,617...115,068,636
JBrowse link
G Kat5 K(lysine) acetyltransferase 5 ISO mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr19:5,653,042...5,661,584
Ensembl chr19:5,653,042...5,660,265
JBrowse link
G Pon1 paraoxonase 1 treatment ISO protein:decreased activity:serum (human) RGD PMID:16684543 PMID:26926576 RGD:11552586, RGD:11553834 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Slc11a2 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 ISO protein:increased expression:nasal cavity olfactory epithelium
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17116712 PMID:17116743 RGD:2311409 NCBI chr15:100,285,779...100,322,090
Ensembl chr15:100,285,779...100,322,953
JBrowse link
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 ISO protein:decreased expression:erythrocyte, membrane (rat) RGD PMID:1317772 RGD:10450513 NCBI chr11:102,239,646...102,256,107
Ensembl chr11:102,239,650...102,257,029
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO CTD Direct Evidence: marker/mechanism CTD PMID:17057260 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
JBrowse link
G Tfrc transferrin receptor ISO
IMP
protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:placenta:
CTD
RGD
PMID:16733738 PMID:17162259 PMID:17163184 PMID:15104997 PMID:17877204 More... RGD:11062096, RGD:11062105, RGD:11062104 NCBI chr16:32,427,714...32,451,612
Ensembl chr16:32,427,738...32,451,612
JBrowse link
G Tmprss6 transmembrane serine protease 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18408718 PMID:22169218 NCBI chr15:78,323,867...78,352,848
Ensembl chr15:78,323,867...78,352,834
JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP:promoter:rs1800629 (human) RGD PMID:18716131 RGD:10450563 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
G Trf transferrin susceptibility ISO DNA:missense mutation:exon:p.G277S
ClinVar Annotator: match by term: Iron deficiency anemia
ClinVar
RGD
PMID:11703331 PMID:12752114 PMID:16398662 PMID:28492532 PMID:11703331 RGD:1601513 NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643
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 5:137,348,371...137,372,784
Ensembl chr 5:137,348,371...137,376,931
JBrowse link
G Slc12a9 solute carrier family 12 (potassium/chloride transporters), member 9 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:137,312,820...137,338,331
Ensembl chr 5:137,312,820...137,331,859
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 intermediate/small conductance 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 7:24,069,251...24,084,637
Ensembl chr 7:24,069,688...24,086,115
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 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068
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 4:119,032,654...119,047,210
Ensembl chr 4:119,032,654...119,047,208
JBrowse link
G Fcgr3 Fc receptor, IgG, low affinity III ISO DNA:polymorphism: : RGD PMID:19129718 RGD:11100009 NCBI chr 1:170,878,738...170,893,476
Ensembl chr 1:170,878,743...170,892,504
JBrowse link
G Polr1c polymerase (RNA) I polypeptide C ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr17:46,554,846...46,558,971
Ensembl chr17:46,554,846...46,558,980
JBrowse link
G Slc14a1 solute carrier family 14 (urea transporter), member 1 ISO ClinVar Annotator: match by term: BLOOD GROUP--KIDD SYSTEM ClinVar NCBI chr18:78,143,306...78,185,334
Ensembl chr18:78,143,306...78,185,334
JBrowse link
G Slc29a1 solute carrier family 29 (nucleoside transporters), member 1 ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr17:45,896,126...45,910,544
Ensembl chr17:45,896,126...45,910,532
JBrowse link
Greenberg dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia
DNA:mutations:cds:multiple (human)
OMIM
ClinVar
RGD
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:24033266 More... RGD:9588626 NCBI chr 1:181,642,880...181,669,966
Ensembl chr 1:181,642,900...181,670,611
JBrowse link
Hydrops Fetalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930558K02Rik RIKEN cDNA 4930558K02 gene ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 1:161,769,658...161,809,940
Ensembl chr 1:161,769,655...161,807,205
JBrowse link
G Acta1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 8:124,618,497...124,621,514
Ensembl chr 8:124,618,508...124,621,490
JBrowse link
G Alb albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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 chr16:4,759,279...4,783,362
Ensembl chr16:4,759,300...4,782,069
JBrowse link
G Arid1a AT rich interactive domain 1A (SWI-like) ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080
JBrowse link
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr18:66,189,926...66,424,909
Ensembl chr18:66,178,373...66,435,812
JBrowse link
G Chrna1 cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle) ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 2:73,393,625...73,410,682
Ensembl chr 2:73,393,559...73,410,682
JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 2:164,674,792...164,682,952
Ensembl chr 2:164,674,793...164,682,952
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 4:106,418,235...106,446,310
Ensembl chr 4:106,418,235...106,446,310
JBrowse link
G Dnah14 dynein, axonemal, heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 1:181,404,158...181,642,306
Ensembl chr 1:181,404,124...181,643,339
JBrowse link
G Dnah9 dynein, axonemal, heavy chain 9 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr11:65,722,150...66,059,379
Ensembl chr11:65,722,108...66,059,377
JBrowse link
G Ehbp1l1 EH domain binding protein 1-like 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr19:5,757,397...5,776,504
Ensembl chr19:5,757,404...5,776,345
JBrowse link
G Fen1 flap structure specific endonuclease 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr19:10,176,496...10,181,757
Ensembl chr19:10,176,496...10,181,533
JBrowse link
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634
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:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484
JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr15:38,869,667...38,901,587
Ensembl chr15:38,869,429...38,901,583
JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr17:73,800,202...74,019,138
Ensembl chr17:73,800,223...74,017,448
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 5:130,011,278...130,031,890
Ensembl chr 5:130,017,852...130,031,890
JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16443854 PMID:17384584 More... NCBI chr 7:140,769,847...140,773,938
Ensembl chr 7:140,769,018...140,773,918
JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219
JBrowse link
G Kif19a kinesin family member 19A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr11:114,656,215...114,681,401
Ensembl chr11:114,656,214...114,681,565
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:24549645 PMID:25741868 NCBI chr 6:145,162,425...145,196,144
Ensembl chr 6:145,162,425...145,195,965
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 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968
JBrowse link
G Lztr1 leucine-zipper-like transcriptional regulator, 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33258288 NCBI chr16:17,326,124...17,344,197
Ensembl chr16:17,326,552...17,344,197
JBrowse link
G Mocs3 molybdenum cofactor synthesis 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 2:168,072,542...168,074,223
Ensembl chr 2:168,072,542...168,074,514
JBrowse link
G Mybphl myosin binding protein H-like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 3:108,272,227...108,287,373
Ensembl chr 3:108,272,227...108,287,373
JBrowse link
G Myo18a myosin XVIIIA ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr11:77,654,066...77,756,814
Ensembl chr11:77,654,072...77,756,806
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 PMID:28492532 NCBI chr17:71,326,455...71,433,851
Ensembl chr17:71,309,628...71,433,851
JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr19:10,185,635...10,218,134
Ensembl chr19:10,185,636...10,218,112
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 chr 2:52,026,652...52,228,810
Ensembl chr 2:52,026,659...52,268,486
JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr17:35,150,229...35,156,273
Ensembl chr17:35,150,229...35,154,929
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 chr13:55,357,595...55,466,138
Ensembl chr13:55,357,595...55,466,138
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 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068
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 1:161,796,757...161,801,029
Ensembl chr 1:161,796,755...161,801,004
JBrowse link
G Prpf19 pre-mRNA processing factor 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr19:10,872,595...10,886,923
Ensembl chr19:10,872,595...10,886,923
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 chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:10449659 PMID:25741868 PMID:31680349 NCBI chr 2:90,865,810...90,876,074
Ensembl chr 2:90,865,965...90,876,074
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 3:88,624,151...88,638,355
Ensembl chr 3:88,624,145...88,638,356
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 chr12:16,944,808...17,038,275
Ensembl chr12:16,944,896...17,037,824
JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:20583297 PMID:20839240 More... NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604
JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr 2:112,461,699...113,047,755
Ensembl chr 2:112,461,700...113,047,441
JBrowse link
G Serpina11 serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr12:103,946,502...103,956,227
Ensembl chr12:103,946,502...103,956,216
JBrowse link
G Sftpa1 surfactant associated protein A1 ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409
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 chr19:53,932,018...54,021,711
Ensembl chr19:53,932,737...54,021,564
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 chr12:31,483,141...31,523,921
Ensembl chr12:31,440,870...31,523,916
JBrowse link
G Svopl SV2 related protein homolog (rat)-like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 6:37,960,674...38,023,944
Ensembl chr 6:37,960,674...38,023,931
JBrowse link
G Thsd1 thrombospondin, type I, domain 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 8:22,711,623...22,752,973
Ensembl chr 8:22,717,329...22,751,350
JBrowse link
G Ubn1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr16:4,867,921...4,904,153
Ensembl chr16:4,867,921...4,904,153
JBrowse link
G Vps13d vacuolar protein sorting 13D ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 4:144,597,619...144,921,598
Ensembl chr 4:144,699,192...144,921,575
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 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 chr 9:123,195,992...123,291,740
Ensembl chr 9:123,195,992...123,291,731
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 8:93,084,424...93,088,084
Ensembl chr 8:93,084,253...93,102,914
JBrowse link
G Slc11a2 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 ISS OMIM:206100 | OMIM:615234 MouseDO NCBI chr15:100,285,779...100,322,090
Ensembl chr15:100,285,779...100,322,953
JBrowse link
G Steap3 STEAP family member 3 ISS OMIM:206100 | OMIM:615234 MouseDO NCBI chr 1:120,154,137...120,198,810
Ensembl chr 1:120,118,487...120,200,435
JBrowse link
G Tfrc transferrin receptor IEP mRNA,protein:decreased expression: erythrocyte: RGD PMID:18552213 RGD:11062089 NCBI chr16:32,427,714...32,451,612
Ensembl chr16:32,427,738...32,451,612
JBrowse link
G Tnf tumor necrosis factor ISO associated with Arthritis, Rheumatoid RGD PMID:18205195 RGD:10450526 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
G Trf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11110675 NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643
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 (proton-coupled divalent metal ion transporters), member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcytic anemia with liver iron overload
CTD
ClinVar
PMID:15459009 PMID:16023393 PMID:16091455 PMID:16140868 PMID:16160008 More... NCBI chr15:100,285,779...100,322,090
Ensembl chr15:100,285,779...100,322,953
JBrowse link
G Steap3 STEAP family member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:120,154,137...120,198,810
Ensembl chr 1:120,118,487...120,200,435
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 OMIM NCBI chr15:100,285,779...100,322,090
Ensembl chr15:100,285,779...100,322,953
JBrowse link
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 STEAP family member 3 ISO ClinVar Annotator: match by term: Hypochromic microcytic anemia with iron overload 2 OMIM
ClinVar
PMID:22031863 NCBI chr 1:120,154,137...120,198,810
Ensembl chr 1:120,118,487...120,200,435
JBrowse link
kernicterus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20194756 PMID:28167773 NCBI chr 1:88,139,681...88,147,724
Ensembl chr 1:88,139,681...88,146,719
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 ISO ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar
PMID:25741868 NCBI chr 2:84,160,970...84,255,786
Ensembl chr 2:84,160,970...84,255,755
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 chr15:78,323,867...78,352,848
Ensembl chr15:78,323,867...78,352,834
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 9:54,769,942...54,819,818
Ensembl chr 9:54,771,073...54,819,814
JBrowse link
Nuchal Bleb, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr cystic fibrosis transmembrane conductance regulator ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:28492532 PMID:29879995 PMID:31036917 PMID:32357917 NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
JBrowse link
G Lztr1 leucine-zipper-like transcriptional regulator, 1 ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 More... NCBI chr16:17,326,124...17,344,197
Ensembl chr16:17,326,552...17,344,197
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 chr17:80,701,181...80,787,882
Ensembl chr17:80,701,180...80,787,882
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: 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:7705839 PMID:7949148 PMID:8107717 More... RGD:11035244, RGD:11035243, RGD:11035241 NCBI chr  X:149,330,413...149,353,618
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:28492532 NCBI chr 9:119,939,428...119,953,570
Ensembl chr 9:119,939,440...119,953,570
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15270
    disease of anatomical entity 14918
      hematopoietic system disease 2757
        anemia 665
          hypochromic anemia 91
            iron deficiency anemia 91
              microcytic anemia + 74
Path 2
Term Annotations click to browse term
  disease 15270
    Nutritional and Metabolic Diseases 5919
      disease of metabolism 5919
        acquired metabolic disease 1994
          nutrition disease 870
            Malnutrition 299
              nutritional deficiency disease 290
                iron deficiency anemia 91
                  microcytic anemia + 74
paths to the root