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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 chr21:12,324,455...12,608,594
Ensembl chr21:25,684,355...25,995,072
JBrowse link
G ATP7A ATPase copper transporting alpha severity ISO mRNA:increased expression:small intestine mucosa (rat)
mRNA:increased expression:duodenum (mouse)
DNA:deletion:cds:p.A799_L800del (mouse)
RGD PMID:15637178 PMID:23776592 RGD:11252172 RGD:2315589 NCBI chr  X:67,093,675...67,231,318
Ensembl chr  X:77,255,312...77,342,756
JBrowse link
G CRP C-reactive protein ISO protein:increased expression:plasma RGD PMID:19730160 RGD:5131463 NCBI chr 1:135,062,102...135,064,402 JBrowse link
G CST3 cystatin C ISO mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr20:23,583,043...23,587,399
Ensembl chr20:23,935,942...23,940,425
JBrowse link
G FN1 fibronectin 1 ISO mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003
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 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
JBrowse link
G GSR glutathione-disulfide reductase ISO protein:increased activity:plasma: RGD PMID:25097522 RGD:11059505 NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:17218383 PMID:22457245 RGD:11041606 RGD:11041634 NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861
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 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591
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 7:23,415,922...23,420,767 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 chr15:57,367,314...57,430,322
Ensembl chr15:76,331,610...76,394,476
JBrowse link
G ITGA2 integrin subunit alpha 2 ISO DNA:SNP: :807C>T (human) RGD PMID:12225391 RGD:11530068 NCBI chr 5:60,935,452...61,040,726
Ensembl chr 5:62,555,370...62,659,720
JBrowse link
G KAT5 lysine acetyltransferase 5 ISO mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr11:61,071,118...61,078,667
Ensembl chr11:64,404,572...64,412,667
JBrowse link
G LOC100995326 serotransferrin 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 chr 3:130,799,063...130,830,227
Ensembl chr 3:138,274,159...138,305,476
JBrowse link
G PON1 paraoxonase 1 treatment ISO protein:decreased activity:serum (human) RGD PMID:16684543 PMID:26926576 RGD:11552586 RGD:11553834 NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
JBrowse link
G SLC11A2 solute carrier family 11 member 2 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:nasal cavity olfactory epithelium
CTD
RGD
PMID:17116712 PMID:17116743 RGD:2311409 NCBI chr12:37,726,158...37,774,554
Ensembl chr12:38,629,686...38,677,377
JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO protein:decreased expression:erythrocyte, membrane (rat) RGD PMID:1317772 RGD:10450513 NCBI chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312
JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17057260 NCBI chr21:18,029,831...18,037,526 JBrowse link
G TFRC transferrin receptor ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:
mRNA:increased expression:placenta:
RGD
CTD
PMID:15104997 PMID:16733738 PMID:17162259 PMID:17163184 PMID:17877204 More... RGD:11062096 RGD:11062104 RGD:11062105 NCBI chr 3:193,384,817...193,417,532
Ensembl chr 3:203,333,953...203,373,998
JBrowse link
G TMPRSS6 transmembrane serine protease 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18408718 PMID:22169218 NCBI chr22:17,979,094...18,032,590
Ensembl chr22:35,815,051...35,859,940
JBrowse link
G TNF tumor necrosis factor ISO DNA:SNP:promoter:rs1800629 (human) RGD PMID:18716131 RGD:10450563 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022
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 7:92,877,655...92,891,957
Ensembl chr 7:106,274,404...106,288,392
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 chr19:40,715,621...40,735,025
Ensembl chr19:49,321,403...49,335,900
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 chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068
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 (Scianna blood group) ISO ClinVar Annotator: match by term: Radin blood group ClinVar PMID:12393480 NCBI chr 1:42,115,812...42,143,314
Ensembl chr 1:43,505,756...43,520,622
JBrowse link
G FCGR2A Fc fragment of IgG receptor IIa ISO DNA:polymorphism: : RGD PMID:19129718 RGD:11100009 NCBI chr 1:136,892,311...136,906,450 JBrowse link
G POLR1C RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr 6:43,101,771...43,121,460
Ensembl chr 6:44,395,787...44,412,257
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 chr18:39,007,475...39,035,489
Ensembl chr18:42,550,210...42,575,723
JBrowse link
G SLC29A1 solute carrier family 29 member 1 (Augustine blood group) ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr 6:43,815,006...43,830,290
Ensembl chr 6:45,099,243...45,113,689
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 chr 1:200,865,602...200,892,199
Ensembl chr 1:205,870,394...205,893,032
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 chr 1:204,975,646...204,978,523
Ensembl chr 1:210,007,622...210,010,469
JBrowse link
G ALB albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
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 chr16:3,621,185...3,659,570
Ensembl chr16:4,788,093...4,820,760
JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239
JBrowse link
G C1H1orf105 chromosome 1 C1orf105 homolog ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 1:147,942,148...147,966,867
Ensembl chr 1:151,628,511...151,676,565
JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr18:52,819,591...53,087,772
Ensembl chr18:56,149,036...56,412,222
JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr2B:62,022,498...62,039,370
Ensembl chr2B:179,476,677...179,504,763
JBrowse link
G CTSA cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr20:42,229,064...42,237,627
Ensembl chr20:43,316,530...43,324,671
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 1:54,126,170...54,163,713
Ensembl chr 1:55,714,693...55,754,698
JBrowse link
G DNAH14 dynein axonemal heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 1:200,399,800...200,863,406
Ensembl chr 1:205,405,249...205,868,182
JBrowse link
G DNAH9 dynein axonemal heavy chain 9 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr17:39,673,338...40,047,090
Ensembl chr17:44,422,928...44,796,983
JBrowse link
G EHBP1L1 EH domain binding protein 1 like 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr11:60,935,156...60,951,756
Ensembl chr11:64,273,027...64,285,950
JBrowse link
G FCRL4 Fc receptor like 4 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:132,935,602...132,960,346
Ensembl chr 1:136,728,473...136,752,838
JBrowse link
G FEN1 flap structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr11:57,092,270...57,096,828
Ensembl chr11:60,455,474...60,456,616
JBrowse link
G FOXC2 forkhead box C2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr16:67,237,476...67,239,545 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:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029
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 8:99,954,523...99,989,153
Ensembl chr 8:102,110,317...102,144,363
JBrowse link
G GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr2A:30,923,029...31,150,626
Ensembl chr2A:30,995,180...31,221,784
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 7:60,087,130...60,109,289
Ensembl chr 7:64,724,841...64,744,909
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 chr11:537,488...540,810
Ensembl chr11:568,305...571,078
JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25741868 PMID:28492532 NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964
JBrowse link
G KIF19 kinesin family member 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr17:68,265,125...68,294,738
Ensembl chr17:73,823,342...73,852,266
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:24549645 PMID:25741868 NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
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 chr11:514,227...559,838
Ensembl chr11:575,495...588,750
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 chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007
JBrowse link
G MOCS3 molybdenum cofactor synthesis 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr20:47,305,561...47,310,809
Ensembl chr20:48,432,519...48,433,901
JBrowse link
G MYBPHL myosin binding protein H like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:111,670,110...111,684,979
Ensembl chr 1:110,833,438...110,847,780
JBrowse link
G MYO18A myosin XVIIIA ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr17:27,593,787...27,700,801
Ensembl chr17:28,116,279...28,208,301
JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 PMID:28492532 NCBI chr18:11,057,733...11,215,998
Ensembl chr18:13,368,052...13,523,834
JBrowse link
G MYRF myelin regulatory factor ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr11:57,052,219...57,088,105
Ensembl chr11:60,412,780...60,448,579
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 chr2B:38,796,991...39,038,824 JBrowse link
G NEU1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr 6:31,522,392...31,526,097
Ensembl chr 6:32,409,217...32,412,971
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 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351
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 chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068
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 1:147,891,867...147,942,057
Ensembl chr 1:151,649,468...151,650,361
JBrowse link
G PRPF19 pre-mRNA processing factor 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr11:56,153,965...56,169,821
Ensembl chr11:59,595,120...59,607,828
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 More... NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
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 chr11:47,387,324...47,398,579
Ensembl chr11:47,940,530...47,951,667
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 1:131,232,277...131,245,437
Ensembl chr 1:135,063,000...135,074,942
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 chr2A:11,167,353...11,331,339
Ensembl chr2A:11,318,370...11,478,986
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 chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
JBrowse link
G RYR3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr15:11,816,430...12,379,101
Ensembl chr15:30,817,428...31,214,494
JBrowse link
G SERPINA11 serpin family A member 11 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr14:75,065,755...75,076,662
Ensembl chr14:94,398,596...94,408,909
JBrowse link
G SFTPA1 surfactant protein A1 ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr10:76,571,312...76,575,820 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 chr10:107,512,795...107,606,627
Ensembl chr10:110,993,556...111,055,312
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 7:99,747,405...99,776,763
Ensembl chr 7:112,470,041...112,507,671
JBrowse link
G SVOPL SVOP like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 7:130,555,572...130,661,267
Ensembl chr 7:143,045,251...143,127,415
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:33,442,480...33,472,259
Ensembl chr13:52,301,206...52,330,504
JBrowse link
G UBN1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr16:3,771,623...3,806,575
Ensembl chr16:4,942,191...4,970,986
JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:10,978,555...11,260,839
Ensembl chr 1:12,197,389...12,476,612
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 chr 3:45,296,129...45,455,836
Ensembl chr 3:46,405,636...46,564,994
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 chr16:35,164,884...35,168,189
Ensembl chr16:54,272,412...54,275,124
JBrowse link
G LOC100995326 serotransferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11110675 NCBI chr 3:130,799,063...130,830,227
Ensembl chr 3:138,274,159...138,305,476
JBrowse link
G TFRC transferrin receptor ISO mRNA,protein:decreased expression: erythrocyte: RGD PMID:18552213 RGD:11062089 NCBI chr 3:193,384,817...193,417,532
Ensembl chr 3:203,333,953...203,373,998
JBrowse link
G TNF tumor necrosis factor ISO associated with Arthritis, Rheumatoid RGD PMID:18205195 RGD:10450526 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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... NCBI chr12:37,726,158...37,774,554
Ensembl chr12:38,629,686...38,677,377
JBrowse link
G STEAP3 STEAP3 metalloreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr2B:6,166,296...6,208,338
Ensembl chr2B:119,752,363...119,787,051
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 NCBI chr12:37,726,158...37,774,554
Ensembl chr12:38,629,686...38,677,377
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 STEAP3 metalloreductase ISO ClinVar Annotator: match by term: Hypochromic microcytic anemia with iron overload 2 OMIM
ClinVar
PMID:22031863 NCBI chr2B:6,166,296...6,208,338
Ensembl chr2B:119,752,363...119,787,051
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 chr2B:74,622,892...74,728,067
Ensembl chr2B:192,422,283...192,463,064
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 chr22:17,979,094...18,032,590
Ensembl chr22:35,815,051...35,859,940
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 chr15:57,367,314...57,430,322
Ensembl chr15:76,331,610...76,394,476
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 chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864
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 chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007
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 chr2A:39,019,046...39,162,248
Ensembl chr2A:39,773,760...39,911,961
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:mutations:exons:p.K299Q,A172T(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)
OMIM
ClinVar
RGD
PMID:1570328 PMID:7560104 PMID:7705839 PMID:7949148 PMID:8107717 More... RGD:11035241 RGD:11035243 NCBI chr  X:47,219,588...47,241,592
Ensembl chr  X:55,451,794...55,473,680
JBrowse link
G APEX2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar NCBI chr  X:47,210,552...47,218,320
Ensembl chr  X:55,442,599...55,450,402
JBrowse link
G PAGE2B PAGE family member 2B ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia ClinVar PMID:12663458 PMID:18823803 PMID:23315997 PMID:28492532 NCBI chr  X:47,240,021...47,346,837 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 3:39,287,934...39,301,810
Ensembl chr 3:39,567,737...39,581,957
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14631
    disease of anatomical entity 0
      hematopoietic system disease 2664
        anemia 630
          hypochromic anemia 90
            iron deficiency anemia 90
              microcytic anemia + 75
Path 2
Term Annotations click to browse term
  disease 14631
    Nutritional and Metabolic Diseases 5573
      disease of metabolism 5573
        acquired metabolic disease 1839
          nutrition disease 824
            Malnutrition 298
              nutritional deficiency disease 287
                iron deficiency anemia 90
                  microcytic anemia + 75
paths to the root