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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 metabolism disease
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Accession:DOID:2351 term browser browse the term
Definition:Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)
Synonyms:exact_synonym: disorder of iron metabolism;   iron disorder;   iron metabolism disorder;   iron metabolism disorders
 primary_id: MESH:D019189
 alt_id: RDO:0001410
 xref: ICD9CM:275.0
For additional species annotation, visit the Alliance of Genome Resources.


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iron metabolism disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clu clusterin ISO RGD PMID:18723004 RGD:2301196 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Cp ceruloplasmin IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:16988052, PMID:10660599 RGD:727562 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Ftl1 ferritin light chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16822677 NCBI chr 1:101,448,190...101,450,034
Ensembl chr 1:101,448,346...101,449,829
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9884342 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Mon1a MON1 homolog A, secretory trafficking associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632513 NCBI chr 8:116,657,345...116,682,172
Ensembl chr 8:116,657,371...116,682,178
JBrowse link
G Tfrc transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17163184, PMID:17254562 NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
JBrowse link
aceruloplasminemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar Annotator: match by term: Aceruloplasminemia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:604290
OMIM
ClinVar
CTD
PMID:1458725, PMID:2016084, PMID:3574673, PMID:5675426, PMID:5912351, PMID:7539672, PMID:7708681, PMID:7820540, PMID:8641692, PMID:8789443, PMID:11756598, PMID:11909923, PMID:12351628, PMID:12572680, PMID:14719552, PMID:15082597, PMID:15654567, PMID:16629161, PMID:16775387, PMID:16831606, PMID:17710675, PMID:18200628, PMID:18414213, PMID:19095659, PMID:20801540, PMID:22243965, PMID:24033266, PMID:25089372, PMID:25741868, PMID:25864092, PMID:26777753, PMID:28012953, PMID:28258281, PMID:28492532 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Aceruloplasminemia
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar PMID:18414213, PMID:24033266, PMID:28492532 NCBI chr 2:104,789,423...104,832,964
Ensembl chr 2:104,789,423...104,830,898
JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20655381 NCBI chr 9:52,819,451...52,830,461
Ensembl chr 9:52,894,365...52,912,293
JBrowse link
dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema
ClinVar Annotator: match by OMIM:194380
OMIM
ClinVar
PMID:5559828, PMID:9827909, PMID:16898969, PMID:17253968, PMID:21944700, PMID:22529292, PMID:23479567, PMID:23695678, PMID:24033266, PMID:25741868, PMID:29576450 NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
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 5:138,227,168...138,240,509
Ensembl chr 5:138,227,855...138,239,306
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO DNA:polymorphism: : RGD PMID:19129718 RGD:11100009 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Slc29a1 solute carrier family 29 member 1 ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr 9:17,784,468...17,799,008
Ensembl chr 9:17,784,468...17,799,005
JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: GRACILE syndrome
ClinVar Annotator: match by OMIM:603358
OMIM
ClinVar
PMID:11528392, PMID:12215968, PMID:12547234, PMID:12910490, PMID:17314340, PMID:17403714, PMID:18386115, PMID:18771761, PMID:19285991, PMID:19389488, PMID:19508421, PMID:20518024, PMID:20727375, PMID:21274865, PMID:22277166, PMID:22310368, PMID:23892085, PMID:24033266, PMID:24236502, PMID:24655110, PMID:25741868, PMID:25895478, PMID:25914718, PMID:26467025, PMID:26489029, PMID:27959697, PMID:28105683, PMID:28322498, PMID:28492532, PMID:28496993, PMID:29090881, PMID:31435670 NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
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: Greenberg dysplasia
ClinVar Annotator: match by OMIM:215140
DNA:mutations:cds:multiple (human)
OMIM
ClinVar
PMID:14684697, PMID:18382993, PMID:20522425, PMID:21327084, PMID:24033266, PMID:25348816, PMID:25741868, PMID:26467025, PMID:27336722, PMID:27830109, PMID:27875746, PMID:28492532, PMID:30311386, PMID:21327084 RGD:9588626 NCBI chr13:100,431,390...100,450,209 JBrowse link
Heme Oxygenase 1 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmox1 heme oxygenase 1 ISO ClinVar Annotator: match by OMIM:614034 OMIM
ClinVar
PMID:9884342 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
hemochromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1d1 aldo-keto reductase family 1, member D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18624455 NCBI chr 4:65,110,706...65,143,930
Ensembl chr 4:65,110,746...65,143,941
JBrowse link
G Alad aminolevulinate dehydratase treatment IDA RGD PMID:3679087 RGD:12904688 NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
JBrowse link
G Alas2 5'-aminolevulinate synthase 2 severity ISO DNA:mutation:cds:c.15599C>T,p.520L(human) RGD PMID:16446107 RGD:11035246 NCBI chr  X:23,167,576...23,187,356
Ensembl chr  X:23,167,696...23,187,341
JBrowse link
G B2m beta-2 microglobulin ISS OMIM:231100 MouseDO NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:126,335,963...126,346,771
Ensembl chr 3:126,335,863...126,346,318
JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19252486, PMID:19252488 NCBI chr17:26,955,142...27,112,820
Ensembl chr17:26,955,142...27,112,820
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17258727 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO juvenile hereditary hemochromatosis, HFE2B, OMIM:602390
ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemochromatosis type 1
ClinVar
CTD
PMID:12915468, PMID:14630809, PMID:14670915, PMID:15024747, PMID:15082576, PMID:16574947, PMID:16627556, PMID:17255318, PMID:19214511, PMID:19252486, PMID:19787796, PMID:21088809, PMID:21411349, PMID:22383097, PMID:25741868, PMID:28492532, PMID:12469120 RGD:1599358 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: Hereditary hemochromatosis
DNA:missense mutation: :p.C282Y (rs1800562) (human)
CTD Direct Evidence: marker/mechanism
associated with Immunologic Deficiency Syndromes;DNA:missense mutation: :p.C282Y (human)
DNA:missense mutation:cds:p.S65C (human)
ClinVar Annotator: match by OMIM:235200
ClinVar
CTD
PMID:678784, PMID:8696333, PMID:8896549, PMID:8896550, PMID:8931958, PMID:8943161, PMID:9024376, PMID:9106528, PMID:9138148, PMID:9162021, PMID:9211748, PMID:9321765, PMID:9326341, PMID:9341868, PMID:9356458, PMID:9439654, PMID:9462220, PMID:9482831, PMID:9546397, PMID:9585606, PMID:9851896, PMID:9851897, PMID:10194428, PMID:10381492, PMID:10401000, PMID:10431233, PMID:10612845, PMID:10660483, PMID:10930379, PMID:10953950, PMID:11050162, PMID:11336458, PMID:11358905, PMID:11399207, PMID:11423500, PMID:11479183, PMID:11532995, PMID:11812557, PMID:11874997, PMID:11904676, PMID:12241803, PMID:12377814, PMID:12429850, PMID:12436244, PMID:12537660, PMID:12542741, PMID:12584229, PMID:12681966, PMID:12737937, PMID:12885340, PMID:12915468, PMID:12952143, PMID:14618419, PMID:14673107, PMID:14729817, PMID:15025725, PMID:15046077, PMID:15060098, PMID:15070663, PMID:15280838, PMID:15347835, PMID:15350019, PMID:15477198, PMID:15775762, PMID:15858186, PMID:15965644, PMID:16132052, PMID:16793930, PMID:16879202, PMID:17079357, PMID:17119292, PMID:17236123, PMID:17255318, PMID:17258727, PMID:17376729, PMID:17600748, PMID:17828789, PMID:18199861, PMID:18317567, PMID:18499578, PMID:18504828, PMID:18566337, PMID:18762941, PMID:19084217, PMID:19159930, PMID:19214108, PMID:19444013, PMID:19554541, PMID:19759876, PMID:19787796, PMID:20107990, PMID:20160468, PMID:20301613, PMID:20843714, PMID:21243428, PMID:21411349, PMID:21452290, PMID:22383097, PMID:22531912, PMID:22624560, PMID:23705020, PMID:24033266, PMID:24729993, PMID:24872867, PMID:25741868, PMID:25741869, PMID:25850353, PMID:25874029, PMID:26153218, PMID:26365338, PMID:26456104, PMID:26799139, PMID:27124787, PMID:27173269, PMID:27518069, PMID:28443246, PMID:28492532, PMID:28617828, PMID:29590070, PMID:30291871, PMID:30311386, PMID:31220083, PMID:8696333, PMID:30651232, PMID:12850493, PMID:12190960, PMID:10194428 RGD:7207252, RGD:14746965, RGD:10755540, RGD:8694411, RGD:8694372 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO juvenile hemochromatosis, type 2A, OMIM:602390
CTD Direct Evidence: marker/mechanism
CTD PMID:16868025, PMID:17255318, PMID:19252486, PMID:21411349, PMID:14647275 RGD:1599478 NCBI chr 2:198,655,437...198,659,318
Ensembl chr 2:198,655,437...198,659,317
JBrowse link
G Hmox1 heme oxygenase 1 ISS OMIM:231100 MouseDO NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11439223 NCBI chr 7:142,025,812...142,062,892
Ensembl chr 7:142,025,815...142,063,212
JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD
ClinVar
PMID:16457665, PMID:21411349 NCBI chr 9:52,819,451...52,830,461
Ensembl chr 9:52,894,365...52,912,293
JBrowse link
G Tfr2 transferrin receptor 2 ISO hemochromatosis, type 3, HFE3, OMIM:604250
ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemochromatosis type 1
ClinVar
CTD
PMID:12130528, PMID:12150153, PMID:14633868, PMID:16424658, PMID:16935854, PMID:17241880, PMID:17562347, PMID:17951290, PMID:18245657, PMID:18450729, PMID:18762941, PMID:20301523, PMID:21411349, PMID:21770687, PMID:21901660, PMID:22383097, PMID:22890139, PMID:23556518, PMID:23600741, PMID:24055163, PMID:25741868, PMID:26029709, PMID:26408288, PMID:27667161, PMID:28276324, PMID:28492532, PMID:10802645 RGD:1599386 NCBI chr12:22,177,382...22,194,330
Ensembl chr12:22,177,382...22,194,299
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:-238G>A (rs361525) (human)
DNA:SNP:promoter:-308G>A (human)
CTD PMID:16793930, PMID:11389006, PMID:16793930 RGD:12904656, RGD:12904050 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
hemochromatosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp2 bone morphogenetic protein 2 ISO OMIM NCBI chr 3:126,335,963...126,346,771
Ensembl chr 3:126,335,863...126,346,318
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:12915468, PMID:19214511, PMID:28492532 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: Hemochromatosis type 1 OMIM
ClinVar
PMID:678784, PMID:8696333, PMID:8896549, PMID:8896550, PMID:8931958, PMID:8943161, PMID:9024376, PMID:9106528, PMID:9138148, PMID:9162021, PMID:9211748, PMID:9321765, PMID:9326341, PMID:9341868, PMID:9356458, PMID:9439654, PMID:9462220, PMID:9482831, PMID:9546397, PMID:9585606, PMID:9851896, PMID:9851897, PMID:9858853, PMID:10194428, PMID:10381492, PMID:10401000, PMID:10431233, PMID:10575540, PMID:10612845, PMID:10660483, PMID:10930379, PMID:10950943, PMID:10953950, PMID:11336458, PMID:11358905, PMID:11399207, PMID:11423500, PMID:11479183, PMID:11532995, PMID:11812557, PMID:11874997, PMID:11904676, PMID:12241803, PMID:12377814, PMID:12429850, PMID:12436244, PMID:12537660, PMID:12542741, PMID:12584229, PMID:12681966, PMID:12737937, PMID:12885340, PMID:12915468, PMID:12952143, PMID:14618419, PMID:14673107, PMID:14729817, PMID:15025725, PMID:15046077, PMID:15060098, PMID:15070663, PMID:15280838, PMID:15347835, PMID:15350019, PMID:15477198, PMID:15775762, PMID:15858186, PMID:15965644, PMID:16132052, PMID:16879202, PMID:17079357, PMID:17600748, PMID:17828789, PMID:18199861, PMID:18499578, PMID:18504828, PMID:18566337, PMID:18762941, PMID:19084217, PMID:19159930, PMID:19214108, PMID:19444013, PMID:19554541, PMID:19759876, PMID:19787796, PMID:20107990, PMID:20301613, PMID:20609690, PMID:20722017, PMID:21243428, PMID:21452290, PMID:22531912, PMID:22624560, PMID:24033266, PMID:24729993, PMID:24872867, PMID:25741868, PMID:25741869, PMID:25850353, PMID:26153218, PMID:26365338, PMID:26456104, PMID:26799139, PMID:27124787, PMID:27173269, PMID:27667161, PMID:28443246, PMID:28492532, PMID:28617828, PMID:29590070, PMID:30291871, PMID:30311386, PMID:31220083 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:12891378, PMID:14647275, PMID:14982867, PMID:14982873, PMID:15138164, PMID:15254010, PMID:15610558, PMID:15811010, PMID:16103117, PMID:17339196, PMID:18827264, PMID:19796184, PMID:22408404, PMID:24033266, PMID:28492532 NCBI chr 2:198,655,437...198,659,318
Ensembl chr 2:198,655,437...198,659,317
JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar NCBI chr 9:52,819,451...52,830,461
Ensembl chr 9:52,894,365...52,912,293
JBrowse link
G Tfr2 transferrin receptor 2 ISO ClinVar Annotator: match by term: Hemochromatosis type 1
ClinVar Annotator: match by term: Hemochromatosis, type 1, modifier of
ClinVar PMID:12150153, PMID:16424658, PMID:22890139, PMID:23600741, PMID:24055163, PMID:26029709, PMID:28492532 NCBI chr12:22,177,382...22,194,330
Ensembl chr12:22,177,382...22,194,299
JBrowse link
hemochromatosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Juvenile hemochromatosis
ClinVar Annotator: match by term: Hemochromatosis, type 2a, modifier of
ClinVar PMID:12915468, PMID:19214511, PMID:28492532 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: Hemochromatosis type 2 ClinVar PMID:678784, PMID:8696333, PMID:8896549, PMID:8896550, PMID:8931958, PMID:8943161, PMID:9024376, PMID:9138148, PMID:9162021, PMID:9211748, PMID:9321765, PMID:9326341, PMID:9341868, PMID:9356458, PMID:9439654, PMID:9462220, PMID:9482831, PMID:9585606, PMID:9851896, PMID:9851897, PMID:10381492, PMID:10401000, PMID:10431233, PMID:11532995, PMID:11812557, PMID:12241803, PMID:12429850, PMID:12436244, PMID:12915468, PMID:14618419, PMID:14729817, PMID:15060098, PMID:15070663, PMID:15280838, PMID:15347835, PMID:15858186, PMID:16132052, PMID:16879202, PMID:17828789, PMID:18199861, PMID:18499578, PMID:18504828, PMID:18566337, PMID:19084217, PMID:19159930, PMID:19444013, PMID:19554541, PMID:20301613, PMID:21243428, PMID:21452290, PMID:22531912, PMID:24033266, PMID:25741868, PMID:25741869, PMID:26153218, PMID:26365338, PMID:27124787, PMID:28492532 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by OMIM:602390
ClinVar Annotator: match by term: Hemochromatosis type 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 NCBI chr 2:198,655,437...198,659,318
Ensembl chr 2:198,655,437...198,659,317
JBrowse link
hemochromatosis type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd34a ankyrin repeat domain 34A ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr 2:198,720,277...198,725,155
Ensembl chr 2:198,721,724...198,725,154
JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar
OMIM
PMID:12482411, PMID:12891378, PMID:14647275, PMID:14982867, PMID:14982873, PMID:15138164, PMID:15254010, PMID:15461631, PMID:15610558, PMID:15775751, PMID:15811010, PMID:16103117, PMID:17339196, PMID:17490902, PMID:17726683, PMID:17938254, PMID:18492090, PMID:18827264, PMID:18976966, PMID:19342478, PMID:19796184, PMID:19907145, PMID:21411349, PMID:21901660, PMID:22408404, PMID:24033266, PMID:25741868, PMID:28363629, PMID:28492532, PMID:30195625 NCBI chr 2:198,655,437...198,659,318
Ensembl chr 2:198,655,437...198,659,317
JBrowse link
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr 2:198,698,044...198,719,609
Ensembl chr 2:198,702,587...198,719,202
JBrowse link
G Txnip thioredoxin interacting protein ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr 2:198,683,168...198,686,971
Ensembl chr 2:198,683,159...198,686,974
JBrowse link
hemochromatosis type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hemochromatosis type 2B
ClinVar Annotator: match by OMIM:613313
OMIM
ClinVar
PMID:12469120, PMID:12915468, PMID:15082576, PMID:15198949, PMID:19214511, PMID:21088809, PMID:25741868, PMID:28492532 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
hemochromatosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfr2 transferrin receptor 2 ISO ClinVar Annotator: match by term: Hemochromatosis type 3
ClinVar Annotator: match by OMIM:604250
OMIM
ClinVar
PMID:10802645, PMID:11313241, PMID:12130528, PMID:12150153, PMID:14633868, PMID:16424658, PMID:16838333, PMID:17562347, PMID:17951290, PMID:18245657, PMID:18450729, PMID:20301523, PMID:21524769, PMID:21901660, PMID:22890139, PMID:23556518, PMID:24055163, PMID:25741868, PMID:26029709, PMID:26183747, PMID:27667161, PMID:28492532 NCBI chr12:22,177,382...22,194,330
Ensembl chr12:22,177,382...22,194,299
JBrowse link
hemochromatosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc40a1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 4
ClinVar Annotator: match by OMIM:606069
OMIM
ClinVar
PMID:11431687, PMID:11518736, PMID:12730114, PMID:12857562, PMID:14636642, PMID:15338274, PMID:15692071, PMID:15831700, PMID:16351644, PMID:16440176, PMID:16813613, PMID:17276706, PMID:17490902, PMID:17951290, PMID:17997113, PMID:19150361, PMID:20460119, PMID:21199650, PMID:21231898, PMID:21396368, PMID:21411349, PMID:22584997, PMID:23065513, PMID:23943237, PMID:25396007, PMID:25741868, PMID:27896572, PMID:28110135, PMID:28492532, PMID:30002125, PMID:32360131 NCBI chr 9:52,819,451...52,830,461
Ensembl chr 9:52,894,365...52,912,293
JBrowse link
hemochromatosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 5 ClinVar PMID:14615048 NCBI chr 1:226,033,146...226,049,893
Ensembl chr 1:226,030,875...226,049,929
JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 5
ClinVar Annotator: match by OMIM:615517
OMIM
ClinVar
PMID:11389486, PMID:14615048 NCBI chr 1:226,030,940...226,033,228
Ensembl chr 1:226,030,938...226,033,228
JBrowse link
hemosiderosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cp ceruloplasmin susceptibility ISO DNA:splice-site mutation RGD PMID:7539672, PMID:7539672 RGD:1599626, RGD:1599626 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
Hemosiderosis, Systemic, due to Aceruloplasminemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Hemosiderosis, systemic, due to aceruloplasminemia
ClinVar Annotator: match by term: Systemic hemosiderosis due to aceruloplasminemia
ClinVar PMID:1458725, PMID:2016084, PMID:3574673, PMID:5675426, PMID:5912351, PMID:7539672, PMID:7708681, PMID:7820540, PMID:8641692, PMID:16629161, PMID:28492532 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
Hydrops Fetalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr18:61,758,754...62,013,194
Ensembl chr18:61,759,289...61,788,863
JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:161,298,750...161,304,627
Ensembl chr 3:161,298,962...161,304,625
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:8259166, PMID:8737829, PMID:9024557, PMID:9653161, PMID:9683613, PMID:10677299, PMID:10807690, PMID:10814720, PMID:10995508, PMID:11078571, PMID:11161831, PMID:11175299, PMID:11241839, PMID:11427181, PMID:11562938, PMID:12794707, PMID:15286151, PMID:15464432, PMID:15521979, PMID:15670717, PMID:15776424, PMID:15805162, PMID:15952211, PMID:16497572, PMID:16761297, PMID:16906538, PMID:17965227, PMID:18285838, PMID:19365639, PMID:19390132, PMID:20301322, PMID:20556518, PMID:20635399, PMID:21777499, PMID:22438180, PMID:22975760, PMID:23042628, PMID:23293579, PMID:23918729, PMID:24033266, PMID:24824134, PMID:25108116, PMID:25741868, PMID:25807282, PMID:26467025, PMID:28166604, PMID:28492532, PMID:30311386 NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904
JBrowse link
G Dnah14 dynein axonemal heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:99,886,373...100,072,674
NCBI chr13:101,936,210...101,973,640
JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 7:77,898,329...77,931,034
Ensembl chr 7:77,899,322...77,931,029
JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 6:24,770,308...24,985,711
Ensembl chr 6:24,770,317...24,985,716
JBrowse link
G Gusb glucuronidase, beta ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: Nonimmune hydrops fetalis
ClinVar PMID:1702266, PMID:7573038, PMID:7680524, PMID:8644704, PMID:9099834, PMID:19224584, PMID:25741868, PMID:26036949, PMID:28492532, PMID:29620724, PMID:30311386 NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Hydrops fetalis, non-immune ClinVar PMID:25741868, PMID:28492532 NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
JBrowse link
G Myo18a myosin XVIIIa ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr10:64,979,770...65,080,535
Ensembl chr10:64,979,770...65,080,535
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949, PMID:28492532 NCBI chr 9:119,353,840...119,469,196
Ensembl chr 9:119,353,840...119,468,715
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 3:37,658,081...37,855,843
Ensembl chr 3:37,658,563...37,854,561
JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr20:4,610,995...4,615,258
Ensembl chr20:4,610,995...4,615,247
JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:79,886,832...79,889,305
Ensembl chr13:79,886,832...79,889,304
JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G RGD1309106 similar to hypothetical protein ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:79,856,479...79,901,830
Ensembl chr13:79,856,479...79,899,479
JBrowse link
G Sftpa1 surfactant protein A1 ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr16:74,680,621...74,712,368
Ensembl chr16:74,680,621...74,710,704
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
JBrowse link
G Ubn1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr10:10,690,224...10,725,655
Ensembl chr10:10,690,224...10,725,655
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 OMIM:617021
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia
ClinVar
OMIM
PMID:23541342, PMID:24033266, PMID:25741868, PMID:26537577, PMID:26970254 NCBI chr 8:132,441,277...132,537,176
Ensembl chr 8:132,441,285...132,536,369
JBrowse link
hyperferritinemia-cataract syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftl1 ferritin light chain 1 ISO DNA:deletion:5' utr: (human)
ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts
ClinVar Annotator: match by term: Hyperferritinemia cataract syndrome
ClinVar Annotator: match by OMIM:600886
DNA:mutations:5'utr:
ClinVar
OMIM
PMID:2336358, PMID:7492760, PMID:7493028, PMID:7669675, PMID:8233801, PMID:8781450, PMID:9226182, PMID:9292547, PMID:9414300, PMID:9414313, PMID:9726965, PMID:10366790, PMID:10366804, PMID:10383191, PMID:10759702, PMID:11703332, PMID:11849230, PMID:12199804, PMID:12200611, PMID:14662596, PMID:15690351, PMID:16900584, PMID:17182944, PMID:18414213, PMID:19176363, PMID:19800271, PMID:21907119, PMID:22881709, PMID:23300176, PMID:23421845, PMID:24766965, PMID:25741868, PMID:26633542, PMID:27096259, PMID:28492532, PMID:9292547, PMID:22020773 RGD:1598966, RGD:5509864 NCBI chr 1:101,448,190...101,450,034
Ensembl chr 1:101,448,346...101,449,829
JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Hyperferritinemia cataract syndrome ClinVar PMID:17182944, PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 1:101,427,195...101,447,092
Ensembl chr 1:101,427,195...101,447,092
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 chr19:16,415,813...16,421,088
Ensembl chr19:16,415,636...16,421,191
JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISS OMIM:206100 | OMIM:615234 MouseDO NCBI chr 7:142,025,812...142,062,892
Ensembl chr 7:142,025,815...142,063,212
JBrowse link
G Steap3 STEAP3 metalloreductase ISS OMIM:206100 | OMIM:615234 MouseDO NCBI chr13:36,257,220...36,274,144
Ensembl chr13:36,257,112...36,290,531
JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11110675 NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
JBrowse link
G Tfrc transferrin receptor ISO mRNA,protein:decreased expression: erythrocyte: RGD PMID:18552213 RGD:11062089 NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
JBrowse link
G Tnf tumor necrosis factor ISO associated with Arthritis, Rheumatoid RGD PMID:18205195 RGD:10450526 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:142,025,812...142,062,892
Ensembl chr 7:142,025,815...142,063,212
JBrowse link
G Steap3 STEAP3 metalloreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:36,257,220...36,274,144
Ensembl chr13:36,257,112...36,290,531
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: Anemia, hypochromic microcytic, with iron overload 1 OMIM
ClinVar
PMID:15459009, PMID:16023393, PMID:16091455, PMID:16140868, PMID:16160008, PMID:16439678, PMID:25741868, PMID:28492532 NCBI chr 7:142,025,812...142,062,892
Ensembl chr 7:142,025,815...142,063,212
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 OMIM:615234 OMIM
ClinVar
PMID:22031863 NCBI chr13:36,257,220...36,274,144
Ensembl chr13:36,257,112...36,290,531
JBrowse link
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
ClinVar Annotator: match by OMIM:607236
OMIM
ClinVar
PMID:1734303, PMID:7898702, PMID:11479594, PMID:12058097, PMID:12510040, PMID:14638969, PMID:15565311, PMID:15659606, PMID:15834858, PMID:16272150, PMID:16437574, PMID:16450344, PMID:22221393, PMID:22416811, PMID:23968566, PMID:24075960, PMID:24215330, PMID:24348190, PMID:25741868, PMID:25802776, PMID:26087139, PMID:26795593, PMID:27185474, PMID:28492532, PMID:28708303, PMID:28781879, PMID:29590070, PMID:30311386, PMID:32581362 NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797
JBrowse link
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 IEP mRNA:decreased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Atp7a ATPase copper transporting alpha severity ISO
IEP
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:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G C1qa complement C1q A chain IEP mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr 5:155,261,254...155,264,101
Ensembl chr 5:155,261,250...155,264,143
JBrowse link
G Crp C-reactive protein IEP protein:increased expression:plasma RGD PMID:19730160 RGD:5131463 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cst3 cystatin C IEP mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
JBrowse link
G Fn1 fibronectin 1 IEP mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IEP
ISO
associated with Renal Insufficiency, Chronic RGD PMID:7861256, PMID:24691014 RGD:11352760, RGD:11352819 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased activity:plasma: RGD PMID:25097522 RGD:11059505 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO
IEP
mRNA:decreased expression:liver RGD PMID:17218383, PMID:22457245 RGD:11041606, RGD:11041634 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
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 chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hp haptoglobin ISO protein:decreased expression:serum RGD PMID:647925 RGD:11041798 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Il6 interleukin 6 IEP associated with Renal Insufficiency, Chronic;protein:increased expression:heart, kidney (rat) RGD PMID:18808386 RGD:11062011 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Ireb2 iron responsive element binding protein 2 IEP 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 8:59,450,974...59,503,634
Ensembl chr 8:59,420,123...59,501,118
JBrowse link
G Itga2 integrin subunit alpha 2 ISO DNA:SNP: :807C>T (human) RGD PMID:12225391 RGD:11530068 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Kat5 lysine acetyltransferase 5 IEP mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr 1:220,967,795...220,974,596
Ensembl chr 1:220,967,796...220,974,597
JBrowse link
G Pon1 paraoxonase 1 treatment ISO protein:decreased activity:serum (human) RGD PMID:16684543, PMID:26926576 RGD:11552586, RGD:11553834 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO ClinVar Annotator: match by term: Iron deficiency anemia ClinVar PMID:11971877, PMID:16527883, PMID:20506269, PMID:22161697, PMID:22513199, PMID:25845478, PMID:26025129, PMID:28492532, PMID:30311386 NCBI chr 8:60,760,040...60,799,364
Ensembl chr 8:60,760,078...60,799,361
JBrowse link
G Slc11a2 solute carrier family 11 member 2 IEP
ISO
protein:increased expression:nasal cavity olfactory epithelium
CTD Direct Evidence: marker/mechanism
CTD PMID:17116712, PMID:17116743 RGD:2311409 NCBI chr 7:142,025,812...142,062,892
Ensembl chr 7:142,025,815...142,063,212
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) IEP protein:decreased expression:erythrocyte, membrane (rat) RGD PMID:1317772 RGD:10450513 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17057260 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Tf transferrin susceptibility ISO DNA:missense mutation:exon:p.G277S
ClinVar Annotator: match by term: Iron deficiency anemia, UMLS MESH term: Anemia, Iron-Deficiency
ClinVar PMID:11703331, PMID:12752114, PMID:16398662, PMID:11703331 RGD:1601513 NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
JBrowse link
G Tfrc transferrin receptor ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:placenta:
CTD PMID:16733738, PMID:17162259, PMID:17163184, PMID:15104997, PMID:17877204, PMID:26303393 RGD:11062096, RGD:11062105, RGD:11062104 NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
JBrowse link
G Tmprss6 transmembrane serine protease 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18408718, PMID:22169218 NCBI chr 7:119,659,323...119,689,953
Ensembl chr 7:119,659,324...119,689,938
JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP:promoter:rs1800629 (human) RGD PMID:18716131 RGD:10450563 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
Iron Overload term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 IDA associated with type 2 diabetes mellitus RGD PMID:27222135 RGD:13782085 NCBI chr12:39,553,903...39,603,326
Ensembl chr12:39,553,903...39,603,326
JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Iron Overload ClinVar PMID:10453731, PMID:11713080, PMID:14615048, PMID:17898294, PMID:21273940, PMID:25741868, PMID:28492532, PMID:28687848 NCBI chr 1:226,033,146...226,049,893
Ensembl chr 1:226,030,875...226,049,929
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20801540 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 IEP protein:enzyme activity:platelet RGD PMID:17119848 RGD:9685486 NCBI chr 1:259,692,020...259,818,922
Ensembl chr 1:259,739,955...259,819,494
JBrowse link
G Epas1 endothelial PAS domain protein 1 treatment ISO associated with Beta-Thalassemia; RGD PMID:24282296 RGD:11041571 NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
JBrowse link
G Fth1 ferritin heavy chain 1 ISO DNA:snp:5' utr:c.-165T>A (human)
ClinVar Annotator: match by term: Iron Overload
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10453731, PMID:11389486, PMID:11713080, PMID:14615048, PMID:17898294, PMID:21273940, PMID:25741868, PMID:28492532, PMID:28687848, PMID:11389486 RGD:737708 NCBI chr 1:226,030,940...226,033,228
Ensembl chr 1:226,030,938...226,033,228
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 IEP protein:increased activity:liver RGD PMID:9559866 RGD:14747018 NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO associated with Beta-Thalassemia RGD PMID:16317757 RGD:11352779 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO associated with Beta-Thalassemia;DNA:deletion: : (human) RGD PMID:19838709 RGD:10755320 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO associated with Beta-Thalassemia;DNA:deletion: : (human) RGD PMID:19838709 RGD:10755320 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO
IEP
associated with Beta-Thalassemia;DNA:SNP:promoter:c.-582A>G (rs10421768) (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
CTD PMID:20801540, PMID:22659129, PMID:19734422, PMID:19524651 RGD:11041610, RGD:11041720 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Hfe homeostatic iron regulator no_association ISO DNA:missense mutation: :p.C282Y (human)
DNA:missense mutations: :p.C282Y, p.H63D (human)
associated with Beta-Thalassemia;DNA:missense mutation: :p.H63D (human)
DNA:missense mutation: :multiple
RGD PMID:14636644, PMID:10895137, PMID:11869934, PMID:14636644 RGD:10755536, RGD:10755542, RGD:10755541, RGD:10755536 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Ireb2 iron responsive element binding protein 2 IEP mRNA:decreased expression:cerebral cortex (rat) RGD PMID:19943190 RGD:6893272 NCBI chr 8:59,450,974...59,503,634
Ensembl chr 8:59,420,123...59,501,118
JBrowse link
G Mapt microtubule-associated protein tau treatment IDA RGD PMID:27403880 RGD:13800907 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISO DNA:snp:exon:c.1285G>C (human) RGD PMID:15459009 RGD:1580431 NCBI chr 7:142,025,812...142,062,892
Ensembl chr 7:142,025,815...142,063,212
JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17052926 NCBI chr 9:52,819,451...52,830,461
Ensembl chr 9:52,894,365...52,912,293
JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11110675 NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20194756, PMID:28167773 NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
L-Ferritin Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftl1 ferritin light chain 1 ISO ClinVar Annotator: match by term: L-ferritin deficiency, autosomal recessive
ClinVar Annotator: match by OMIM:615604
OMIM
ClinVar
PMID:15173247, PMID:23940258 NCBI chr 1:101,448,190...101,450,034
Ensembl chr 1:101,448,346...101,449,829
JBrowse link
Lymphatic Malformation 7 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: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to
ClinVar
OMIM
PMID:27400125, PMID:29905864 NCBI chr12:22,393,338...22,418,332
Ensembl chr12:22,393,330...22,417,980
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 OMIM NCBI chr 3:71,747,938...71,845,487
Ensembl chr 3:71,747,956...71,845,232
JBrowse link
microcytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcytic anemia ClinVar PMID:30311386 NCBI chr19:43,193,264...43,215,281
Ensembl chr19:43,193,257...43,215,281
JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Microcytic anemia ClinVar PMID:1734721, PMID:2867271, PMID:6162860, PMID:6457059, PMID:6896219, PMID:8095930, PMID:21228398, PMID:21389146, PMID:21417574, PMID:22271886, PMID:22975760, PMID:23321370, PMID:24033266, PMID:25087612, PMID:25572186, PMID:25741868, PMID:27427187, PMID:27821015, PMID:28366028, PMID:28492532, PMID:28670940, PMID:30311386 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO ClinVar Annotator: match by term: Microcytic anemia ClinVar PMID:30311386 NCBI chr19:26,196,797...26,216,981
Ensembl chr19:26,196,837...26,216,267
JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Microcytic anemia ClinVar PMID:30311386 NCBI chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493
JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Microcytic anemia ClinVar PMID:25741868, PMID:28492532, PMID:29121657, PMID:30311386 NCBI chr 4:6,559,153...6,799,888
Ensembl chr 4:6,559,545...6,799,632
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Microcytic anemia ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Microcytic anemia ClinVar PMID:28492532, PMID:30311386 NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064
JBrowse link
G Tmprss6 transmembrane serine protease 6 ISO ClinVar Annotator: match by term: Microcytic anemia
ClinVar Annotator: match by term: PSEUDO-IRON-DEFICIENCY ANEMIA
ClinVar Annotator: match by OMIM:206200
OMIM
ClinVar
PMID:18408718, PMID:18596229, PMID:19357398, PMID:19592582, PMID:19818657, PMID:20719010, PMID:25156943, PMID:25741868, PMID:25873000, PMID:28492532, PMID:32581362 NCBI chr 7:119,659,323...119,689,953
Ensembl chr 7:119,659,324...119,689,938
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Microcytic anemia ClinVar PMID:30311386 NCBI chr 3:63,565,160...63,837,815 JBrowse link
neurodegeneration with brain iron accumulation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Iron accumulation in brain ClinVar PMID:32581362 NCBI chr 9:17,869,301...17,881,762
Ensembl chr 9:17,869,124...17,880,706
JBrowse link
G Crat carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:25741868, PMID:29395073 NCBI chr 3:8,967,984...8,981,959
Ensembl chr 3:8,968,417...8,981,362
JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 1, atypical
ClinVar Annotator: match by term: Iron accumulation in brain
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11479594, PMID:12510040, PMID:15565311, PMID:15659606, PMID:15834858, PMID:16272150, PMID:16437574, PMID:16450344, PMID:20629144, PMID:22221393, PMID:22416811, PMID:23968566, PMID:24075960, PMID:24215330, PMID:24348190, PMID:25741868, PMID:25802776, PMID:26087139, PMID:26795593, PMID:27185474, PMID:28492532, PMID:28708303, PMID:28781879, PMID:29590070, PMID:30311386 NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797
JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Iron accumulation in brain
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar PMID:10227637, PMID:12843330, PMID:16783378, PMID:17033970, PMID:18359254, PMID:18414213, PMID:18443314, PMID:18570303, PMID:18799783, PMID:19138334, PMID:19893029, PMID:20301718, PMID:20584031, PMID:20619503, PMID:20886109, PMID:20938027, PMID:20947703, PMID:22934738, PMID:24033266, PMID:24108619, PMID:24130795, PMID:24745848, PMID:24800972, PMID:24847269, PMID:25164370, PMID:25326635, PMID:25326637, PMID:25558065, PMID:25741868, PMID:26668131, PMID:27196560, PMID:27378808, PMID:28492532, PMID:29472584, PMID:29915382, PMID:30340910, PMID:30619057 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
JBrowse link
G Reps1 RALBP1 associated Eps domain containing 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:29395073 NCBI chr 1:13,262,049...13,298,347
Ensembl chr 1:13,212,324...13,298,347
JBrowse link
G Wdr45 WD repeat domain 45 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
CTD
ClinVar
PMID:23176820, PMID:23435086, PMID:24368176, PMID:24621584, PMID:25741868, PMID:25744623, PMID:28492532, PMID:28711740 NCBI chr  X:15,621,249...15,627,159
Ensembl chr  X:15,621,209...15,627,235
JBrowse link
neurodegeneration with brain iron accumulation 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: PLA2G6-associated neurodegeneration
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
DNA:deletions, missense mutations, nonsense mutation: exon:multiple
OMIM
ClinVar
PMID:10227637, PMID:12843330, PMID:16783378, PMID:17033970, PMID:18359254, PMID:18414213, PMID:18443314, PMID:18570303, PMID:18799783, PMID:18981035, PMID:19138334, PMID:19893029, PMID:20186954, PMID:20584031, PMID:20619503, PMID:20669327, PMID:20886109, PMID:20938027, PMID:20947703, PMID:21368765, PMID:21700586, PMID:21812034, PMID:22213678, PMID:22934738, PMID:23182313, PMID:24033266, PMID:24088041, PMID:24108619, PMID:24130795, PMID:24745848, PMID:24800972, PMID:24847269, PMID:25164370, PMID:25174650, PMID:25326635, PMID:25326637, PMID:25660576, PMID:25741868, PMID:26196026, PMID:26467025, PMID:26539891, PMID:26633545, PMID:26668131, PMID:27127721, PMID:27196560, PMID:27268037, PMID:27294386, PMID:27378808, PMID:27709683, PMID:27942883, PMID:28295203, PMID:28492532, PMID:28821231, PMID:29124790, PMID:29915382, PMID:30042723, PMID:30065071, PMID:30232368, PMID:30302010, PMID:30340910, PMID:32860008, PMID:22934738 RGD:12910703 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
JBrowse link
neurodegeneration with brain iron accumulation 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2b
ClinVar Annotator: match by OMIM:610217
OMIM
ClinVar
PMID:10227637, PMID:12843330, PMID:16783378, PMID:17033970, PMID:18414213, PMID:18443314, PMID:18570303, PMID:18799783, PMID:18981035, PMID:20301718, PMID:20619503, PMID:20669327, PMID:20886109, PMID:20938027, PMID:24088041, PMID:24130795, PMID:24745848, PMID:24800972, PMID:24847269, PMID:25741868, PMID:26196026, PMID:26633545, PMID:26668131, PMID:27268037, PMID:28492532, PMID:29472584, PMID:29915382, PMID:30619057, PMID:32581362, PMID:32860008 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
JBrowse link
neurodegeneration with brain iron accumulation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftl1 ferritin light chain 1 ISO DNA:insertion:exon:460_461insA(human)
ClinVar Annotator: match by term: Neuroferritinopathy
ClinVar Annotator: match by OMIM:606159
DNA:mutations:exon:
DNA:duplication:cds:458dupA(human)
ClinVar
OMIM
PMID:11438811, PMID:12746423, PMID:16116125, PMID:17182944, PMID:18413574, PMID:18414213, PMID:18854324, PMID:25741868, PMID:28492532, PMID:17142829, PMID:19117339, PMID:18854324 RGD:5509859, RGD:5509861, RGD:5509860 NCBI chr 1:101,448,190...101,450,034
Ensembl chr 1:101,448,346...101,449,829
JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Neuroferritinopathy ClinVar PMID:17182944, PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 1:101,427,195...101,447,092
Ensembl chr 1:101,427,195...101,447,092
JBrowse link
neurodegeneration with brain iron accumulation 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC690000 similar to CG3740-PA ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4
ClinVar Annotator: match by term: MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION
ClinVar Annotator: match by OMIM:614298
OMIM
ClinVar
PMID:18414213, PMID:20039086, PMID:21981780, PMID:22508347, PMID:22584950, PMID:23166001, PMID:23269600, PMID:23278385, PMID:23436634, PMID:23494994, PMID:23857908, PMID:24033266, PMID:24209434, PMID:25592411, PMID:25741868, PMID:26187298, PMID:26539891, PMID:27112773, PMID:28347615, PMID:28492532, PMID:28641177, PMID:29295770, PMID:30088953, PMID:30392167, PMID:31087512, PMID:32581362 NCBI chr 1:94,572,714...94,587,842
Ensembl chr 1:94,579,080...94,587,219
JBrowse link
neurodegeneration with brain iron accumulation 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar NCBI chr  X:15,471,212...15,504,372
Ensembl chr  X:15,471,211...15,504,165
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar Annotator: match by term: Beta-Propeller protein-associated Neurodegeneration
ClinVar Annotator: match by OMIM:300894
OMIM
ClinVar
PMID:20562859, PMID:22892189, PMID:23176820, PMID:23435086, PMID:23687123, PMID:24368176, PMID:24621584, PMID:24847269, PMID:24896178, PMID:25263061, PMID:25326635, PMID:25356899, PMID:25592411, PMID:25741868, PMID:25741887, PMID:25744623, PMID:26173968, PMID:26467025, PMID:26609730, PMID:26633542, PMID:26790960, PMID:27030146, PMID:27159028, PMID:27652284, PMID:28191889, PMID:28492532, PMID:28554332, PMID:28711740, PMID:28932395, PMID:29082105, PMID:29171013, PMID:29981852, PMID:30311386, PMID:30612247, PMID:30713893 NCBI chr  X:15,621,249...15,627,159
Ensembl chr  X:15,621,209...15,627,235
JBrowse link
neurodegeneration with brain iron accumulation 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coasy Coenzyme A synthase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6
ClinVar Annotator: match by OMIM:615643
OMIM
ClinVar
PMID:24360804, PMID:25741868, PMID:28489334, PMID:28492532 NCBI chr10:88,992,413...88,996,677
Ensembl chr10:88,992,487...88,996,676
JBrowse link
Neurodegeneration with Brain Iron Accumulation 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reps1 RALBP1 associated Eps domain containing 1 ISO ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 ClinVar
OMIM
PMID:25741868, PMID:29395073 NCBI chr 1:13,262,049...13,298,347
Ensembl chr 1:13,212,324...13,298,347
JBrowse link
Neurodegeneration with Brain Iron Accumulation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crat carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 OMIM
ClinVar
PMID:25741868, PMID:29395073 NCBI chr 3:8,967,984...8,981,959
Ensembl chr 3:8,968,417...8,981,362
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
ClinVar Annotator: match by term: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA
OMIM
ClinVar
PMID:25741868, PMID:30915432, PMID:31243445 NCBI chr 8:59,450,974...59,503,634
Ensembl chr 8:59,420,123...59,501,118
JBrowse link
pantothenate kinase-associated neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar Annotator: match by OMIM:234200
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1301187, PMID:1734303, PMID:7898702, PMID:11479594, PMID:12058097, PMID:12510040, PMID:12811783, PMID:14580665, PMID:14638969, PMID:15465096, PMID:15565311, PMID:15659606, PMID:15834858, PMID:15843062, PMID:15911822, PMID:16023068, PMID:16240131, PMID:16272150, PMID:16437574, PMID:16450344, PMID:17903678, PMID:19224615, PMID:20193558, PMID:20603201, PMID:20629144, PMID:21198414, PMID:21459825, PMID:21480873, PMID:22103354, PMID:22127788, PMID:22221393, PMID:22416811, PMID:22682757, PMID:23634310, PMID:23757202, PMID:23968566, PMID:24033266, PMID:24075960, PMID:24209433, PMID:24215330, PMID:24348190, PMID:24712887, PMID:25741868, PMID:25802776, PMID:25915509, PMID:26087139, PMID:26467025, PMID:26795593, PMID:26828213, PMID:27185474, PMID:28094106, PMID:28357202, PMID:28492532, PMID:28708303, PMID:28781879, PMID:28821231, PMID:28845923, PMID:28881514, PMID:29590070, PMID:30311386, PMID:30681573, PMID:32581362 NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797
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G Snca synuclein alpha ISO RGD PMID:10934140 RGD:6480098 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Sncb synuclein, beta ISO RGD PMID:10934140 RGD:6480098 NCBI chr17:10,384,472...10,392,776
Ensembl chr17:10,384,511...10,392,843
JBrowse link
G Sncg synuclein, gamma ISO RGD PMID:10934140 RGD:6480098 NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707
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, 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)
DNA:mutations:exons:p.K299Q,A172T(human)
ClinVar Annotator: match by OMIM:300751
OMIM
ClinVar
CTD
PMID:1570328, PMID:7705839, PMID:7949148, PMID:8107717, PMID:9488633, PMID:9858242, PMID:10029606, PMID:10444183, PMID:11110715, PMID:12031592, PMID:12531813, PMID:12663458, PMID:16121195, PMID:16446107, PMID:18637800, PMID:18823803, PMID:20848343, PMID:21653323, PMID:22269113, PMID:22740690, PMID:22778251, PMID:22995991, PMID:23315997, PMID:25741868, PMID:28492532, PMID:21252495, PMID:11110715, PMID:7560104 RGD:11035244, RGD:11035243, RGD:11035241 NCBI chr  X:23,167,576...23,187,356
Ensembl chr  X:23,167,696...23,187,341
JBrowse link
G Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar NCBI chr  X:23,146,085...23,166,676
Ensembl chr  X:23,146,085...23,166,675
JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO ClinVar Annotator: match by term: ANEMIA, SIDEROBLASTIC, 1 ClinVar PMID:28492532 NCBI chr 8:128,790,348...128,802,988
Ensembl chr 8:128,790,348...128,802,989
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        mineral metabolism disease 442
          iron metabolism disease 108
            Heme Oxygenase 1 Deficiency 1
            Iron Overload + 32
            L-Ferritin Deficiency 1
            aceruloplasminemia 3
            hemosiderosis + 2
            hyperferritinemia-cataract syndrome 2
            iron deficiency anemia + 68
            neurodegeneration with brain iron accumulation + 14
Path 2
Term Annotations click to browse term
  disease 16045
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        acquired metabolic disease 2788
          mineral metabolism disease 442
            iron metabolism disease 108
              Heme Oxygenase 1 Deficiency 1
              Iron Overload + 32
              L-Ferritin Deficiency 1
              aceruloplasminemia 3
              hemosiderosis + 2
              hyperferritinemia-cataract syndrome 2
              iron deficiency anemia + 68
              neurodegeneration with brain iron accumulation + 14
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.