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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 chr21:25,880,550...26,171,128
Ensembl chr21:25,880,550...26,171,128
JBrowse link
G ATP7A ATPase copper transporting alpha severity ISO mRNA:increased expression:duodenum (mouse)
mRNA:increased expression:small intestine mucosa (rat)
DNA:deletion:cds:p.A799_L800del (mouse)
RGD PMID:23776592 PMID:15637178 PMID:23776592 RGD:11252172, RGD:2315589, RGD:11252172 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395
JBrowse link
G C1QA complement C1q A chain ISO mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr 1:22,636,463...22,639,678
Ensembl chr 1:22,635,077...22,639,678
JBrowse link
G CRP C-reactive protein ISO protein:increased expression:plasma RGD PMID:19730160 RGD:5131463 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CST3 cystatin C ISO mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
JBrowse link
G FN1 fibronectin 1 ISO mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO
IDA
associated with Renal Insufficiency, Chronic RGD PMID:7861256 PMID:24691014 RGD:11352760, RGD:11352819 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,176...49,358,353
JBrowse link
G GSR glutathione-disulfide reductase IEP protein:increased activity:plasma: RGD PMID:25097522 RGD:11059505 NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:17218383 PMID:22457245 RGD:11041606, RGD:11041634 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
JBrowse link
G HFE homeostatic iron regulator IAGP associated with celiac disease;DNA:missense mutations: :p.H63D, p.C282Y (human) RGD PMID:29194702 RGD:14701052 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343
JBrowse link
G HP haptoglobin IEP protein:decreased expression:serum RGD PMID:647925 RGD:11041798 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
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 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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 chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453
JBrowse link
G ITGA2 integrin subunit alpha 2 IAGP DNA:SNP: :807C>T (human) RGD PMID:12225391 RGD:11530068 NCBI chr 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779
JBrowse link
G KAT5 lysine acetyltransferase 5 ISO mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604
JBrowse link
G PON1 paraoxonase 1 treatment IEP
IDA
protein:decreased activity:serum (human) RGD PMID:16684543 PMID:26926576 RGD:11552586, RGD:11553834 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G SLC11A2 solute carrier family 11 member 2 ISO
EXP
protein:increased expression:nasal cavity olfactory epithelium
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17116712 PMID:17116743 RGD:2311409 NCBI chr12:50,952,263...51,028,886
Ensembl chr12:50,979,401...51,028,566
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 chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141
JBrowse link
G SOD1 superoxide dismutase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17057260 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
JBrowse link
G TF transferrin susceptibility IAGP 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 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
JBrowse link
G TFRC transferrin receptor IEP
EXP
ISO
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 chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153
JBrowse link
G TMPRSS6 transmembrane serine protease 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18408718 PMID:22169218 NCBI chr22:37,065,436...37,110,536
Ensembl chr22:37,065,436...37,109,713
JBrowse link
G TNF tumor necrosis factor IAGP DNA:SNP:promoter:rs1800629 (human) RGD PMID:18716131 RGD:10450563 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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 IAGP ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to
ClinVar Annotator: match by term: Lymphatic malformation 7
ClinVar
OMIM
PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29905864 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
JBrowse link
G SLC12A9 solute carrier family 12 member 9 IAGP ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:100,826,869...100,867,012
Ensembl chr 7:100,826,820...100,867,010
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 IAGP ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema ClinVar PMID:25741868 NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976
JBrowse link
G LOC100289580 uncharacterized LOC100289580 IAGP ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH
ClinVar PMID:25741868 PMID:28492532 PMID:28716860 NCBI chr16:88,731,180...88,741,425 JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 IAGP ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH
ClinVar Annotator: match by term: Pseudohyperkalemia, familial, 1, due to red cell leak
ClinVar
OMIM
PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 More... NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220
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) IAGP ClinVar Annotator: match by term: Radin blood group ClinVar PMID:12393480 NCBI chr 1:42,817,122...42,844,991
Ensembl chr 1:42,817,122...42,844,991
JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP DNA:polymorphism: : RGD PMID:19129718 RGD:11100009 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr 6:43,517,089...44,461,400
Ensembl chr 6:43,509,702...43,562,419
JBrowse link
G SLC14A1 solute carrier family 14 member 1 (Kidd blood group) IAGP ClinVar Annotator: match by term: BLOOD GROUP--KIDD SYSTEM ClinVar NCBI chr18:45,724,181...45,752,520
Ensembl chr18:45,687,025...45,752,520
JBrowse link
G SLC29A1 solute carrier family 29 member 1 (Augustine blood group) IAGP ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr 6:44,219,615...44,234,142
Ensembl chr 6:44,219,553...44,234,142
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 IAGP DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Greenberg dysplasia
ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops
ClinVar
OMIM
RGD
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:24033266 More... RGD:9588626 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
JBrowse link
G ALB albumin disease_progression IEP RGD PMID:17195148 RGD:11036098 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr16:4,696,511...4,734,271
Ensembl chr16:4,696,510...4,734,378
JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G C1orf105 chromosome 1 open reading frame 105 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 1:172,420,685...172,468,829
Ensembl chr 1:172,420,685...172,468,831
JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662
JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935
JBrowse link
G CTSA cathepsin A IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr20:45,891,335...45,898,820
Ensembl chr20:45,890,144...45,898,949
JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
JBrowse link
G DNAH14 dynein axonemal heavy chain 14 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 1:224,929,654...225,399,286
Ensembl chr 1:224,896,262...225,399,292
JBrowse link
G DNAH9 dynein axonemal heavy chain 9 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748
JBrowse link
G EHBP1L1 EH domain binding protein 1 like 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr11:65,576,053...65,592,650
Ensembl chr11:65,576,046...65,592,650
JBrowse link
G FCRL4 Fc receptor like 4 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:157,573,747...157,598,085
Ensembl chr 1:157,573,747...157,598,085
JBrowse link
G FEN1 flap structure-specific endonuclease 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr11:61,792,911...61,797,238
Ensembl chr11:61,792,911...61,797,238
JBrowse link
G FOXC2 forkhead box C2 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728
JBrowse link
G FOXP3 forkhead box P3 IAGP ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11137992 PMID:11295725 PMID:25546394 PMID:25741868 PMID:28492532 More... NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,270,477
JBrowse link
G FZD6 frizzled class receptor 6 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr 8:103,298,494...103,332,866
Ensembl chr 8:103,298,433...103,332,866
JBrowse link
G GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 2:30,886,782...31,138,440
Ensembl chr 2:30,910,467...31,155,202
JBrowse link
G GUSB glucuronidase beta IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:1702266 PMID:7573038 PMID:7680524 PMID:8644704 PMID:9099834 More... NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215
JBrowse link
G HBA2 hemoglobin subunit alpha 2 IAGP ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar PMID:868864 PMID:8237999 PMID:9029003 PMID:11722414 PMID:17296578 More... NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: Fetal edema
ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16443854 PMID:17384584 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G JAK3 Janus kinase 3 IAGP ClinVar Annotator: match by term: Hydrops fetalis, non-immune ClinVar PMID:25741868 PMID:28492532 NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
JBrowse link
G KIF19 kinesin family member 19 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr17:74,326,226...74,355,820
Ensembl chr17:74,326,210...74,355,820
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:24549645 PMID:25741868 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LOC100289580 uncharacterized LOC100289580 IAGP 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 chr16:88,731,180...88,741,425 JBrowse link
G LOC106804612 hemoglobin subunit alpha 2 recombination region IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME
ClinVar PMID:868864 PMID:8237999 PMID:9029003 PMID:11722414 PMID:17296578 More... NCBI chr16:170,362...173,729 JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: Fetal edema
ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16443854 PMID:17384584 More... NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 IAGP ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33258288 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
JBrowse link
G MOCS3 molybdenum cofactor synthesis 3 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr20:50,958,818...50,963,929
Ensembl chr20:50,958,818...50,963,929
JBrowse link
G MYBPHL myosin binding protein H like IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:109,292,365...109,307,011
Ensembl chr 1:109,292,365...109,307,011
JBrowse link
G MYO18A myosin XVIIIA IAGP ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr17:29,071,122...29,212,727
Ensembl chr17:29,071,122...29,180,398
JBrowse link
G MYOM1 myomesin 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 PMID:28492532 NCBI chr18:3,066,807...3,247,376
Ensembl chr18:3,066,807...3,219,968
JBrowse link
G MYRF myelin regulatory factor IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518
JBrowse link
G NEB nebulin IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:18330676 PMID:25205138 PMID:26036949 PMID:26841830 PMID:28492532 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487
JBrowse link
G NEU1 neuraminidase 1 IAGP ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:177,133,015...177,300,213
Ensembl chr 5:177,131,830...177,300,213
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 IAGP 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 chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220
JBrowse link
G PIGC phosphatidylinositol glycan anchor biosynthesis class C IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 1:172,441,457...172,444,069
Ensembl chr 1:172,370,189...172,444,086
JBrowse link
G PRPF19 pre-mRNA processing factor 19 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr11:60,890,547...60,906,585
Ensembl chr11:60,890,547...60,906,585
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: Fetal edema
ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 More... NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G RAPSN receptor associated protein of the synapse IAGP ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:10449659 PMID:25741868 PMID:31680349 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143
JBrowse link
G RIT1 Ras like without CAAX 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: Fetal edema
ClinVar PMID:23791108 PMID:24469055 PMID:25124994 PMID:25741868 PMID:26242988 More... NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404
JBrowse link
G ROCK2 Rho associated coiled-coil containing protein kinase 2 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 2:11,179,759...11,345,437
Ensembl chr 2:11,179,759...11,348,330
JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:20583297 PMID:20839240 More... NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
JBrowse link
G RYR3 ryanodine receptor 3 IAGP ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121
JBrowse link
G SERPINA11 serpin family A member 11 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr14:94,442,464...94,452,800
Ensembl chr14:94,442,464...94,452,800
JBrowse link
G SFTPA1 surfactant protein A1 IEP protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30348783 NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307
JBrowse link
G SLC26A3 solute carrier family 26 member 3 IAGP ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:9718329 PMID:21394828 PMID:25741868 PMID:31680349 NCBI chr 7:107,765,469...107,803,223
Ensembl chr 7:107,765,467...107,803,225
JBrowse link
G SVOPL SVOP like IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 7:138,594,285...138,701,362
Ensembl chr 7:138,594,285...138,701,362
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373
JBrowse link
G UBN1 ubinuclein 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr16:4,847,481...4,882,401
Ensembl chr16:4,846,665...4,882,401
JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:12,230,030...12,512,047
Ensembl chr 1:12,230,030...12,512,047
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 IAGP ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia ClinVar
OMIM
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726
JBrowse link
G LARS2-AS1 LARS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia ClinVar PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr 3:45,482,695...45,509,545
Ensembl chr 3:45,483,974...45,509,545
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr16:54,930,865...54,934,485
Ensembl chr16:54,930,865...54,934,485
JBrowse link
G SLC11A2 solute carrier family 11 member 2 IEA OMIM:206100 | OMIM:615234 MouseDO NCBI chr12:50,952,263...51,028,886
Ensembl chr12:50,979,401...51,028,566
JBrowse link
G STEAP3 STEAP3 metalloreductase IEA OMIM:206100 | OMIM:615234 MouseDO NCBI chr 2:119,223,834...119,265,652
Ensembl chr 2:119,223,831...119,265,652
JBrowse link
G TF transferrin EXP CTD Direct Evidence: marker/mechanism CTD PMID:11110675 NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
JBrowse link
G TFRC transferrin receptor ISO mRNA,protein:decreased expression: erythrocyte: RGD PMID:18552213 RGD:11062089 NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153
JBrowse link
G TNF tumor necrosis factor IMP associated with Arthritis, Rheumatoid RGD PMID:18205195 RGD:10450526 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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 EXP
IAGP
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 chr12:50,952,263...51,028,886
Ensembl chr12:50,979,401...51,028,566
JBrowse link
G STEAP3 STEAP3 metalloreductase EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:119,223,834...119,265,652
Ensembl chr 2:119,223,831...119,265,652
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 IAGP OMIM NCBI chr12:50,952,263...51,028,886
Ensembl chr12:50,979,401...51,028,566
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 IAGP ClinVar Annotator: match by term: Hypochromic microcytic anemia with iron overload 2 ClinVar
OMIM
PMID:22031863 NCBI chr 2:119,223,834...119,265,652
Ensembl chr 2:119,223,831...119,265,652
JBrowse link
G STEAP3-AS1 STEAP3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypochromic microcytic anemia with iron overload 2 ClinVar PMID:22031863 NCBI chr 2:119,244,422...119,249,071
Ensembl chr 2:119,244,422...119,270,714
JBrowse link
kernicterus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UGT1A1 UDP glucuronosyltransferase family 1 member A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20194756 PMID:28167773 NCBI chr 2:233,760,270...233,773,300
Ensembl chr 2:233,760,270...233,773,300
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 IAGP ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar
PMID:25741868 NCBI chr 2:187,341,964...187,448,252
Ensembl chr 2:187,341,964...187,448,460
JBrowse link
G CALCRL-AS1 CALCRL and TFPI antisense RNA 1 IAGP ClinVar Annotator: match by term: Lymphatic malformation 8 ClinVar PMID:25741868 NCBI chr 2:187,188,460...187,557,971
Ensembl chr 2:187,003,220...187,556,288
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 IAGP ClinVar Annotator: match by term: PSEUDO-IRON-DEFICIENCY ANEMIA
ClinVar Annotator: match by term: Microcytic anemia
ClinVar Annotator: match by term: Iron-refractory iron deficiency anemia
ClinVar
OMIM
PMID:18408718 PMID:18596229 PMID:19357398 PMID:19592582 PMID:19818657 More... NCBI chr22:37,065,436...37,110,536
Ensembl chr22:37,065,436...37,109,713
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 IAGP ClinVar Annotator: match by term: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA
ClinVar Annotator: match by term: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA
ClinVar Annotator: match by term: Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
OMIM
ClinVar
PMID:25741868 PMID:30915432 PMID:31243445 NCBI chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453
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 IAGP ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:28492532 PMID:29879995 PMID:31036917 PMID:32357917 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 IAGP ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 More... NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Nuchal bleb, familial ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 More... NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345
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 IAGP
EXP
DNA:mutations:exons:p.K299Q,A172T(human)
ClinVar Annotator: match by term: Anemia, sideroblastic, 1
ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia
ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory
ClinVar Annotator: match by term: ANEMIA, SIDEROBLASTIC, 1
ClinVar Annotator: match by term: Hereditary 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)
ClinVar
CTD
OMIM
RGD
PMID:1570328 PMID:7560104 PMID:7705839 PMID:7949148 PMID:8107717 More... RGD:11035241, RGD:11035244, RGD:11035243 NCBI chr  X:55,009,055...55,030,977
Ensembl chr  X:55,009,055...55,030,977
JBrowse link
G APEX2 apurinic/apyrimidinic endodeoxyribonuclease 2 IAGP ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar NCBI chr  X:55,000,363...55,009,057
Ensembl chr  X:55,000,363...55,009,057
JBrowse link
G LOC108663984 ALAS2 intron 1 and 3 erythroid regulatory elements IAGP ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar PMID:18823803 PMID:23315997 PMID:25741868 PMID:28492532 NCBI chr  X:55,023,757...55,030,982 JBrowse link
G PAGE2B PAGE family member 2B IAGP ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar PMID:12663458 PMID:18823803 PMID:23315997 PMID:28492532 NCBI chr  X:55,028,117...55,078,909
Ensembl chr  X:55,075,030...55,078,909
JBrowse link
G SLC25A38 solute carrier family 25 member 38 IAGP ClinVar Annotator: match by term: ANEMIA, SIDEROBLASTIC, 1 ClinVar PMID:28492532 NCBI chr 3:39,383,370...39,397,351
Ensembl chr 3:39,383,370...39,397,351
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22067
    disease of anatomical entity 20627
      hematopoietic system disease 3276
        anemia 776
          hypochromic anemia 100
            iron deficiency anemia 100
              microcytic anemia + 83
Path 2
Term Annotations click to browse term
  disease 22067
    Nutritional and Metabolic Diseases 7386
      disease of metabolism 7386
        acquired metabolic disease 2650
          nutrition disease 1412
            Malnutrition 333
              nutritional deficiency disease 324
                iron deficiency anemia 100
                  microcytic anemia + 83
paths to the root