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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:microcytic anemia
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Accession:DOID:11252 term browser browse the term
Synonyms:exact_synonym: Anemia, Hypochromic Microcytic, with Defect in Iron Metabolism;   IRIDA;   Iron-Handling Disorder, Hereditary;   Iron-Refractory Iron Deficiency Anemia;   Pseudo-Iron-Deficiency Anemia;   TMPRSS6-RELATED CONDITION
 primary_id: MESH:C562385
 alt_id: OMIM:206200
 xref: NCI:C35141
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
microcytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPB ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: Microcytic anemia ClinVar PMID:34140661 NCBI chr11:67,364,012...67,514,035
Ensembl chr11:70,594,633...70,736,699 		JBrowse link
G DNM2 dynamin 2 ISO OMIM:206200 MouseDO NCBI chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478 		JBrowse link
G TMPRSS6 transmembrane serine protease 6 ISO ClinVar Annotator: match by term: Iron-refractory iron deficiency anemia | ClinVar Annotator: match by term: Microcytic anemia | ClinVar Annotator: match by term: TMPRSS6-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18408718 PMID:18596229 PMID:19357398 More... NCBI chr22:17,979,094...18,032,590
Ensembl chr22:35,815,051...35,859,940 		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: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7 OMIM
ClinVar		 PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29905864 More... NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022 		JBrowse link
G MDFIC MyoD family inhibitor domain containing ISO ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY ClinVar PMID:25741868 PMID:35235341 NCBI chr 7:106,886,481...106,983,546
Ensembl chr 7:119,584,817...119,678,614 		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 7:106,288,530...106,294,968
Ensembl chr 7:106,288,530...106,294,968 		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 (Er blood group) 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:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 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 LOC100991644 low affinity immunoglobulin gamma Fc region receptor II-a 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:23824842 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:25741913 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 PMID:28492532 PMID:30471718 PMID:33027564 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 PMID:25741914 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:16920951 PMID:22590469 PMID:25546394 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:25741914 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:1779626 PMID:7573038 PMID:7680524 PMID:8644704 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:16329078 PMID:16443854 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 LOC103783265 pulmonary surfactant-associated protein A1 ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr10:76,571,312...76,575,820 JBrowse link
G LOC103785028 polycomb protein SUZ12 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr17:24,790,921...24,853,790 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:16329078 PMID:16443854 More... NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Hydrops fetalis 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 PMID:31130284 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:25741868 PMID:25741916 PMID:26036949 More... 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 (Er blood group) ISO ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:28492532 PMID:28619848 PMID:30187933 PMID:30244526 More... 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:25741913 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:24939608 PMID:25049390 PMID:25124994 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:21911697 PMID:22473935 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 SHOC2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:22670144 PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 More... NCBI chr10:107,512,795...107,606,627
Ensembl chr10:110,993,556...111,055,312 		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:25741915 PMID:26036949 PMID:28749478 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 TF transferrin 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 ClinVar Annotator: match by term: SLC11A2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:35457224 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 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MDFIC MyoD family inhibitor domain containing ISO ClinVar Annotator: match by term: Lymphatic malformation 12 OMIM
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr 7:106,886,481...106,983,546
Ensembl chr 7:119,584,817...119,678,614 		JBrowse link
Lymphatic Malformation 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 13 OMIM
ClinVar		 PMID:25741868 PMID:25741915 PMID:26036949 PMID:28749478 PMID:30055085 More... NCBI chr13:33,442,480...33,472,259
Ensembl chr13:52,301,206...52,330,504 		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
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:25741905 PMID:28492532 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:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 More... 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 post translational regulator 1 ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25741905 PMID:25795793 PMID:28492532 PMID:30368668 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: ALAS2-related condition | ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia
DNA:mutations:exons:p.K299Q,A172T(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)		 OMIM
ClinVar
RGD		 PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 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, hereditary sideroblastic 1, pyridoxine refractory | 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:24166784 PMID:25741868 More...
G SLC25A38 solute carrier family 25 member 38 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 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 17996
    disease of anatomical entity 15260
      hematopoietic system disease 3221
        anemia 753
          microcytic anemia 78
            NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA 1
            fetal erythroblastosis + 64
            hypochromic microcytic anemia + 10
Path 2
Term Annotations click to browse term
  disease 17996
    Nutritional and Metabolic Diseases 7186
      disease of metabolism 7186
        acquired metabolic disease 2245
          nutrition disease 882
            Malnutrition 330
              nutritional deficiency disease 314
                iron deficiency anemia 93
                  microcytic anemia 78
                    NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA 1
                    fetal erythroblastosis + 64
                    hypochromic microcytic anemia + 10
paths to the root