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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
 xref: ICD9CM:275.0
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700 		JBrowse link
G CP ceruloplasmin EXP CTD Direct Evidence: marker/mechanism CTD PMID:16988052 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829 		JBrowse link
G FTL ferritin light chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:16822677 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,966,879 		JBrowse link
G HMOX1 heme oxygenase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9884342 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G MON1A MON1 homolog A, secretory trafficking associated EXP CTD Direct Evidence: marker/mechanism CTD PMID:17632513 NCBI chr 3:49,908,873...49,929,811
Ensembl chr 3:49,907,160...49,930,173 		JBrowse link
G TFRC transferrin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:17163184 PMID:17254562 NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153 		JBrowse link
aceruloplasminemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CP ceruloplasmin IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deficiency of ferroxidase
OMIM:604290
ClinVar Annotator: match by term: Hypoceruloplasminemia
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:2016084 PMID:3574673 PMID:5675426 PMID:5912351 PMID:7539672 More... NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829 		JBrowse link
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 IAGP ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:18414213 PMID:24033266 PMID:28492532 NCBI chr 3:149,129,638...149,173,732
Ensembl chr 3:149,129,638...149,173,732 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20655381 NCBI chr 2:189,560,590...189,580,786
Ensembl chr 2:189,560,590...189,583,758 		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
EXP		 ClinVar Annotator: match by term: Lymphatic malformation 7
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to		 ClinVar
CTD
OMIM		 PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29905864 More... NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523 		JBrowse link
G LOC126860124 CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:100403701-100404900 IAGP ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:27400125 PMID:28687708 PMID:29905864 PMID:30578106 More... NCBI chr 7:100,805,443...100,807,278 JBrowse link
G MDFIC MyoD family inhibitor domain containing ISS
IAGP		 OMIM:617300
ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY		 MouseDO
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr 7:114,922,094...115,019,917
Ensembl chr 7:114,922,094...115,019,917 		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 HSALR1 HSP90AB1 associated lncRNA 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 PMID:25741868 PMID:28492532 PMID:28716860 NCBI chr16:88,731,180...88,741,425 JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 IAGP ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema ClinVar PMID:25741868 NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976 		JBrowse link
G LOC130059751 ATAC-STARR-seq lymphoblastoid silent region 7872 IAGP ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema ClinVar PMID:25741868 PMID:28492532 NCBI chr16:88,737,356...88,737,575 JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP
EXP		 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 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH
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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 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
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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: GRACILE syndrome
OMIM:603358
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443 		JBrowse link
G LOC129935609 ATAC-STARR-seq lymphoblastoid active region 17127 IAGP ClinVar Annotator: match by term: GRACILE syndrome ClinVar PMID:25741868
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP ClinVar Annotator: match by term: neonatal lactic acidosis ClinVar PMID:25741868 PMID:32313153 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		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
EXP		 DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More... RGD:9588626 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		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 IAGP
EXP		 ClinVar Annotator: match by term: Heme oxygenase 1 deficiency
ClinVar Annotator: match by term: HMOX1-related condition | ClinVar Annotator: match by term: Heme oxygenase 1 deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9884342 PMID:16199547 PMID:21088618 PMID:22023467 PMID:25741868 More... NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18624455 NCBI chr 7:138,076,459...138,118,305
Ensembl chr 7:138,002,324...138,118,305 		JBrowse link
G ALAD aminolevulinate dehydratase treatment ISO RGD PMID:3679087 RGD:12904688 NCBI chr 9:113,386,312...113,401,284
Ensembl chr 9:113,386,312...113,401,290 		JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 severity IAGP DNA:mutation:cds:c.15599C>T,p.520L(human) RGD PMID:16446107 RGD:11035246 NCBI chr  X:55,009,055...55,030,977
Ensembl chr  X:55,009,055...55,030,977 		JBrowse link
G B2M beta-2-microglobulin ISS OMIM:231100 MouseDO NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G BMP2 bone morphogenetic protein 2 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BMP6 bone morphogenetic protein 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19252486 PMID:19252488 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728 		JBrowse link
G CP ceruloplasmin EXP CTD Direct Evidence: marker/mechanism CTD PMID:17258727 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829 		JBrowse link
G HAMP hepcidin antimicrobial peptide IAGP
EXP		 juvenile hereditary hemochromatosis, HFE2B, OMIM:602390 DNA:point mutation:CDS:93delG or C166T
ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemochromatosis, juvenile, digenic		 ClinVar
CTD
RGD		 PMID:9536098 PMID:12915468 PMID:14630809 PMID:14670915 PMID:15024747 More... RGD:1599358 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
G HFE homeostatic iron regulator IAGP
EXP
ISO		 ClinVar Annotator: match by term: Hereditary hemochromatosis
ClinVar Annotator: match by term: HFE INTRONIC POLYMORPHISM
ClinVar Annotator: match by term: HFE POLYMORPHISM
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
CTD
RGD		 PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... RGD:7207252, RGD:14746965, RGD:10755540, RGD:8694411, RGD:8694372 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343 		JBrowse link
G HFE-AS1 HFE antisense RNA 1 IAGP ClinVar Annotator: match by term: Hereditary hemochromatosis
ClinVar Annotator: match by term: HFE POLYMORPHISM		 ClinVar PMID:8696333 PMID:8896550 PMID:9162021 PMID:9356458 PMID:9462220 More... NCBI chr 6:26,086,290...26,091,034 JBrowse link
G HJV hemojuvelin BMP co-receptor IAGP
EXP		 juvenile hemochromatosis, type 2A, OMIM:602390 protein:substitution:CDS:G320V
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16868025 PMID:17255318 PMID:19252486 PMID:21411349 PMID:14647275 RGD:1599478 NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746 		JBrowse link
G HMOX1 heme oxygenase 1 ISS OMIM:231100 MouseDO NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G HP haptoglobin EXP CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055 		JBrowse link
G LOC113687175 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100224056-100224820 IAGP ClinVar Annotator: match by term: Hereditary hemochromatosis ClinVar PMID:9536098 PMID:16424658 PMID:17576681 PMID:17951290 PMID:22890139 More... NCBI chr 7:100,626,433...100,627,197 JBrowse link
G LOC129998967 ATAC-STARR-seq lymphoblastoid silent region 18453 IAGP ClinVar Annotator: match by term: Hereditary hemochromatosis ClinVar PMID:28492532
G SLC11A2 solute carrier family 11 member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11439223 NCBI chr12:50,952,263...51,028,886
Ensembl chr12:50,979,401...51,028,566 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary hemochromatosis		 CTD
ClinVar		 PMID:16457665 PMID:21411349 NCBI chr 2:189,560,590...189,580,786
Ensembl chr 2:189,560,590...189,583,758 		JBrowse link
G TFR2 transferrin receptor 2 IAGP
EXP		 hemochromatosis, type 3, HFE3, OMIM:604250
ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9536098 PMID:10802645 PMID:11102989 PMID:11313241 PMID:11358389 More... RGD:1599386 NCBI chr 7:100,620,420...100,641,552
Ensembl chr 7:100,620,416...100,642,779 		JBrowse link
G TNF tumor necrosis factor IAGP
EXP		 DNA:SNP:promoter:-308G>A (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:-238G>A (rs361525) (human)		 CTD
RGD		 PMID:16793930 PMID:16793930 PMID:11389006 RGD:12904050, RGD:12904656 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		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 IAGP OMIM NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G HAMP hepcidin antimicrobial peptide IAGP ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:12915468 PMID:19214511 PMID:25741868 PMID:28492532 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
G HFE homeostatic iron regulator IAGP
ISS		 ClinVar Annotator: match by term: Hemochromatosis type 1
OMIM:235200		 ClinVar
OMIM
MouseDO		 PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343 		JBrowse link
G HFE-AS1 HFE antisense RNA 1 IAGP ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:8696333 PMID:8896550 PMID:9162021 PMID:9356458 PMID:9462220 More... NCBI chr 6:26,086,290...26,091,034 JBrowse link
G HJV hemojuvelin BMP co-receptor IAGP ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 PMID:15138164 More... NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746 		JBrowse link
G LOC113687175 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100224056-100224820 IAGP ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:23600741 PMID:25741868 PMID:26029709 PMID:28492532 NCBI chr 7:100,626,433...100,627,197 JBrowse link
G SLC40A1 solute carrier family 40 member 1 IAGP ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:28492532 NCBI chr 2:189,560,590...189,580,786
Ensembl chr 2:189,560,590...189,583,758 		JBrowse link
G TFR2 transferrin receptor 2 IAGP ClinVar Annotator: match by term: Hemochromatosis type 1
ClinVar Annotator: match by term: Hemochromatosis, type 1, modifier of		 ClinVar PMID:12150153 PMID:16424658 PMID:20301523 PMID:22890139 PMID:23600741 More... NCBI chr 7:100,620,420...100,641,552
Ensembl chr 7:100,620,416...100,642,779 		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 IAGP ClinVar Annotator: match by term: Juvenile hemochromatosis ClinVar NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
G HFE homeostatic iron regulator IAGP ClinVar Annotator: match by term: Juvenile hemochromatosis ClinVar PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343 		JBrowse link
G HJV hemojuvelin BMP co-receptor IAGP
EXP		 ClinVar Annotator: match by term: Juvenile hemochromatosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:25741868 PMID:28492532 PMID:29764732 NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746 		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 IAGP ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr 1:145,959,441...145,964,575
Ensembl chr 1:145,959,441...145,964,575 		JBrowse link
G HAMP hepcidin antimicrobial peptide IAGP ClinVar Annotator: match by term: Hemochromatosis, type 2a, modifier of ClinVar PMID:12915468 PMID:19214511 PMID:25741868 PMID:28492532 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
G HJV hemojuvelin BMP co-receptor IAGP
ISS		 ClinVar Annotator: match by term: Hemochromatosis type 2A
ClinVar Annotator: match by term: HJV-related condition | ClinVar Annotator: match by term: Hemochromatosis type 2A
OMIM:602390		 ClinVar
MouseDO
OMIM		 PMID:12482411 PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 More... NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746 		JBrowse link
G POLR3GL RNA polymerase III subunit GL IAGP ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr 1:145,964,690...145,978,848
Ensembl chr 1:145,964,690...145,978,848 		JBrowse link
G TXNIP thioredoxin interacting protein IAGP ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr 1:145,992,435...145,996,579
Ensembl chr 1:145,992,435...145,996,579 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Hemochromatosis type 2B
OMIM:613313
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:12469120 PMID:12915468 PMID:15082576 PMID:15099344 PMID:15198949 More... NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
hemochromatosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC113687175 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100224056-100224820 IAGP ClinVar Annotator: match by term: Hemochromatosis type 3
ClinVar Annotator: match by term: Hemochromatosis type 3 | ClinVar Annotator: match by term: Hereditary hemochromatosis type 3		 ClinVar PMID:9536098 PMID:12130528 PMID:16424658 PMID:17576681 PMID:17951290 More... NCBI chr 7:100,626,433...100,627,197 JBrowse link
G TFR2 transferrin receptor 2 IAGP
ISS
EXP
ISO		 ClinVar Annotator: match by term: Hereditary hemochromatosis type 3
ClinVar Annotator: match by term: Hemochromatosis due to defect in transferrin receptor 2 | ClinVar Annotator: match by term: Hemochromatosis type 3 | ClinVar Annotator: match by term: Hereditary hemochromatosis type 3
OMIM:604250
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:Ala679Gly (rat)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:10802645 PMID:11102989 PMID:11313241 PMID:11358389 More... RGD:150520058 NCBI chr 7:100,620,420...100,641,552
Ensembl chr 7:100,620,416...100,642,779 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Hemochromatosis type 4
ClinVar Annotator: match by term: Hemochromatosis due to defect in ferroportin | ClinVar Annotator: match by term: Hemochromatosis type 4
OMIM:606069
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:11431687 PMID:11518736 PMID:12730114 PMID:12857562 More... NCBI chr 2:189,560,590...189,580,786
Ensembl chr 2:189,560,590...189,583,758 		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 IAGP ClinVar Annotator: match by term: Hemochromatosis type 5 ClinVar PMID:14615048 PMID:25741868 PMID:28492532 NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515 		JBrowse link
G FTH1 ferritin heavy chain 1 IAGP
EXP		 ClinVar Annotator: match by term: Hemochromatosis type 5
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:11389486 PMID:14615048 PMID:25741868 PMID:28492532 NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634 		JBrowse link
G LOC399900 uncharacterized LOC399900 IAGP ClinVar Annotator: match by term: Hemochromatosis type 5 ClinVar PMID:11389486 PMID:25741868 NCBI chr11:61,967,294...61,968,879
Ensembl chr11:61,967,794...61,969,490 		JBrowse link
G TFR2 transferrin receptor 2 IAGP ClinVar Annotator: match by term: Hereditary hemochromatosis type 5 ClinVar PMID:28492532 NCBI chr 7:100,620,420...100,641,552
Ensembl chr 7:100,620,416...100,642,779 		JBrowse link
hemosiderosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CP ceruloplasmin susceptibility IAGP DNA:splice-site mutation RGD PMID:7539672 RGD:1599626 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829 		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:25741913 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 PMID:28492532 PMID:30471718 PMID:33027564 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 PMID:25741914 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:16920951 PMID:22590469 PMID:25546394 More... NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G FZD6 frizzled class receptor 6 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:25741914 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:1779626 PMID:7573038 PMID:7680524 PMID:8644704 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: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G HSALR1 HSP90AB1 associated lncRNA 1 IAGP 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 chr16:88,731,180...88,741,425 JBrowse link
G JAK3 Janus kinase 3 IAGP ClinVar Annotator: match by term: Fetal edema 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 LOC106804612 hemoglobin subunit alpha 2 recombination region 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 chr16:170,362...173,729 JBrowse link
G LOC126805881 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:157556896-157558095 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741914 NCBI chr 1:157,587,106...157,588,305 JBrowse link
G LOC126860055 MED14-independent group 3 enhancer GRCh37_chr7:65432190-65433389 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 7:65,967,203...65,968,940 JBrowse link
G LOC126862505 BRD4-independent group 4 enhancer GRCh37_chr17:11572478-11573677 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:28492532 PMID:30471718 PMID:33027564 NCBI chr17:11,668,892...11,670,360 JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP 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 chr22:20,982,297...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...29,180,398
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 PMID:31130284 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:25741868 PMID:25741916 PMID:26036949 More... 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 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: Hydrops fetalis		 ClinVar PMID:25741868 PMID:28492532 PMID:28619848 PMID:30187933 PMID:30244526 More... 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:25741913 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: 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:24939608 PMID:25049390 PMID:25124994 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:21911697 PMID:22473935 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:22670144 PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 More... NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,038 		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:25741915 PMID:26036949 PMID:28749478 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
EXP		 ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
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
Hyperferritinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STAB1 stabilin 1 IAGP ClinVar Annotator: match by term: Hyperferritinemia ClinVar PMID:37490907 NCBI chr 3:52,495,338...52,524,495
Ensembl chr 3:52,495,338...52,524,495 		JBrowse link
hyperferritinemia-cataract syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FTL ferritin light chain IAGP
EXP		 DNA:deletion:5' utr: (human)
ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts
CTD Direct Evidence: marker/mechanism
DNA:mutations:5'utr:		 ClinVar
CTD
OMIM
RGD		 PMID:2336358 PMID:7492760 PMID:7493028 PMID:7669675 PMID:8233801 More... RGD:1598966, RGD:5509864 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,966,879 		JBrowse link
G GYS1 glycogen synthase 1 IAGP ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr19:48,968,130...48,993,309
Ensembl chr19:48,968,130...48,993,310 		JBrowse link
G LOC119369037 CRISPRi-FlowFISH-validated FTL regulatory element 4 IAGP ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts ClinVar PMID:25741868 PMID:28492532 NCBI chr19:48,970,828...48,971,348 JBrowse link
G LOC130064891 ATAC-STARR-seq lymphoblastoid silent region 10909 IAGP ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts ClinVar PMID:28492532 NCBI chr19:48,965,139...48,965,298 JBrowse link
G LOC130064892 ATAC-STARR-seq lymphoblastoid active region 14919 IAGP ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts ClinVar PMID:19176363 PMID:25741868 PMID:28492532 NCBI chr19:48,965,549...48,965,598 JBrowse link
G LOC130064893 ATAC-STARR-seq lymphoblastoid active region 14920 IAGP ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts ClinVar PMID:25741868 NCBI chr19:48,968,329...48,968,558 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 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 ClinVar Annotator: match by term: SLC11A2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:35457224 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
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 chr21:25,880,535...26,171,128 		JBrowse link
G ATP7A ATPase copper transporting alpha severity ISO mRNA:increased expression:duodenum (mouse)
DNA:deletion:cds:p.A799_L800del (mouse)
mRNA:increased expression:small intestine mucosa (rat)		 RGD PMID:23776592 PMID:23776592 PMID:15637178 RGD:11252172, RGD:11252172, RGD:2315589 NCBI chr  X: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 3:49,357,174...49,358,605 		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:25741868 PMID:28492532 More... 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
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 ISO associated with type 2 diabetes mellitus RGD PMID:27222135 RGD:13782085 NCBI chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093 		JBrowse link
G BEST1 bestrophin 1 IAGP ClinVar Annotator: match by term: Iron Overload ClinVar PMID:14615048 PMID:25741868 PMID:28492532 PMID:28687848 NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515 		JBrowse link
G BMP6 bone morphogenetic protein 6 susceptibility IAGP ClinVar Annotator: match by term: Iron overload, susceptibility to OMIM
ClinVar		 PMID:25741868 PMID:26582087 PMID:28335084 PMID:32464486 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728 		JBrowse link
G CP ceruloplasmin EXP CTD Direct Evidence: marker/mechanism CTD PMID:20801540 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829 		JBrowse link
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 ISO protein:enzyme activity:platelet RGD PMID:17119848 RGD:9685486 NCBI chr10:95,694,186...95,877,266
Ensembl chr10:95,711,779...95,877,266 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 treatment ISO associated with Beta-Thalassemia; RGD PMID:24282296 RGD:11041571 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697 		JBrowse link
G FTH1 ferritin heavy chain 1 IAGP
EXP		 DNA:snp:5' utr:c.-165T>A (human)
ClinVar Annotator: match by term: Iron Overload
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:11389486 PMID:14615048 PMID:25741868 PMID:28492532 PMID:28687848 More... RGD:737708 NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634 		JBrowse link
G GGT1 gamma-glutamyltransferase 1 ISO protein:increased activity:liver RGD PMID:9559866 RGD:14747018 NCBI chr22:24,583,750...24,628,996
Ensembl chr22:24,594,811...24,629,005 		JBrowse link
G GPX1 glutathione peroxidase 1 IDA associated with Beta-Thalassemia RGD PMID:16317757 RGD:11352779 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP associated with Beta-Thalassemia;DNA:deletion: : (human) RGD PMID:19838709 RGD:10755320 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G GSTT1 glutathione S-transferase theta 1 IAGP associated with Beta-Thalassemia;DNA:deletion: : (human) RGD PMID:19838709 RGD:10755320
G HAMP hepcidin antimicrobial peptide IAGP
EXP
ISO		 associated with Beta-Thalassemia;DNA:SNP:promoter:c.-582A>G (rs10421768) (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum		 CTD
RGD		 PMID:20801540 PMID:22659129 PMID:19734422 PMID:19524651 RGD:11041610, RGD:11041720 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
G HFE homeostatic iron regulator no_association IAGP 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 chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,281...26,098,343 		JBrowse link
G IREB2 iron responsive element binding protein 2 ISO mRNA:decreased expression:cerebral cortex (rat) RGD PMID:19943190 RGD:6893272 NCBI chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453 		JBrowse link
G LOC130005817 ATAC-STARR-seq lymphoblastoid silent region 3410 IAGP ClinVar Annotator: match by term: Iron Overload ClinVar NCBI chr11:61,967,631...61,967,980 JBrowse link
G LOC399900 uncharacterized LOC399900 IAGP ClinVar Annotator: match by term: Iron Overload ClinVar NCBI chr11:61,967,294...61,968,879
Ensembl chr11:61,967,794...61,969,490 		JBrowse link
G MAPT microtubule associated protein tau treatment ISO RGD PMID:27403880 RGD:13800907 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G SLC11A2 solute carrier family 11 member 2 IAGP DNA:snp:exon:c.1285G>C (human) RGD PMID:15459009 RGD:1580431 NCBI chr12:50,952,263...51,028,886
Ensembl chr12:50,979,401...51,028,566 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17052926 NCBI chr 2:189,560,590...189,580,786
Ensembl chr 2:189,560,590...189,583,758 		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
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
L-Ferritin Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FTL ferritin light chain IAGP
EXP		 ClinVar Annotator: match by term: L-ferritin deficiency, autosomal recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:15173247 PMID:17182944 PMID:18414213 PMID:23940258 PMID:25741868 More... NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,966,879 		JBrowse link
G GYS1 glycogen synthase 1 IAGP ClinVar Annotator: match by term: L-ferritin deficiency ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr19:48,968,130...48,993,309
Ensembl chr19:48,968,130...48,993,310 		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 IAGP ClinVar Annotator: match by term: Lymphatic malformation 12 OMIM
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr 7:114,922,094...115,019,917
Ensembl chr 7:114,922,094...115,019,917 		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 IAGP ClinVar Annotator: match by term: Lymphatic malformation 13 OMIM
ClinVar		 PMID:25741868 PMID:25741915 PMID:26036949 PMID:28749478 PMID:30055085 More... NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373 		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 2:187,003,273...187,547,525
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 CLPB ClpB family mitochondrial disaggregase IAGP ClinVar Annotator: match by term: Microcytic anemia ClinVar PMID:34140661 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G DNM2 dynamin 2 ISS OMIM:206200 MouseDO NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488 		JBrowse link
G TMPRSS6 transmembrane serine protease 6 IAGP
EXP		 ClinVar Annotator: match by term: Iron-refractory iron deficiency anemia
ClinVar Annotator: match by term: Microcytic anemia
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
ClinVar Annotator: match by term: Iron-refractory iron deficiency anemia | ClinVar Annotator: match by term: TMPRSS6-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:17576681 PMID:18408718 PMID:18596229 PMID:19357398 More... NCBI chr22:37,065,436...37,110,536
Ensembl chr22:37,065,436...37,109,713 		JBrowse link
Neonatal Hemochromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP6 bone morphogenetic protein 6 IAGP ClinVar Annotator: match by term: Neonatal hemochromatosis ClinVar PMID:25741868 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728 		JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 IAGP ClinVar Annotator: match by term: Neonatal hemochromatosis ClinVar PMID:25741868 NCBI chr16:30,985,207...30,989,147
Ensembl chr16:30,985,207...30,989,147 		JBrowse link
G STX1B syntaxin 1B IAGP ClinVar Annotator: match by term: Neonatal hemochromatosis ClinVar PMID:25741868 NCBI chr16:30,989,256...31,010,638
Ensembl chr16:30,989,256...31,010,638 		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 IAGP ClinVar Annotator: match by term: Iron accumulation in brain ClinVar PMID:32581362 NCBI chr 6:44,298,731...44,313,347
Ensembl chr 6:44,298,731...44,313,347 		JBrowse link
G ATP13A2 ATPase cation transporting 13A2 IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:16199547 PMID:16964263 PMID:20683840 PMID:21060012 PMID:21665991 More... NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928 		JBrowse link
G C19orf12 chromosome 19 open reading frame 12 IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:21981780 PMID:22584950 PMID:23269600 PMID:23436634 PMID:23494994 More... NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789 		JBrowse link
G COASY Coenzyme A synthase IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:21264299 PMID:24360804 PMID:25741868 PMID:27021474 PMID:28357284 More... NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277 		JBrowse link
G CP ceruloplasmin IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:16629161 PMID:25741868 PMID:28492532 PMID:30901137 PMID:32235485 More... NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829 		JBrowse link
G CRAT carnitine O-acetyltransferase IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:25741868 PMID:28492532 PMID:29395073 NCBI chr 9:129,094,794...129,110,793
Ensembl chr 9:129,094,142...129,111,189 		JBrowse link
G DCAF17 DDB1 and CUL4 associated factor 17 IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar NCBI chr 2:171,434,226...171,485,052
Ensembl chr 2:171,434,217...171,485,052 		JBrowse link
G FA2H fatty acid 2-hydroxylase IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:20853438 PMID:25741868 PMID:27217339 PMID:27316240 PMID:28492532 More... NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831 		JBrowse link
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar NCBI chr 3:149,129,638...149,173,732
Ensembl chr 3:149,129,638...149,173,732 		JBrowse link
G LOC130059394 ATAC-STARR-seq lymphoblastoid silent region 7701 IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:27316240 PMID:28492532 PMID:31135052 PMID:33059505 NCBI chr16:74,774,547...74,774,916 JBrowse link
G PANK2 pantothenate kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20629144 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar Annotator: match by term: Iron accumulation in brain		 ClinVar PMID:2668131 PMID:16199547 PMID:16783378 PMID:17033970 PMID:18359254 More... NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP ClinVar Annotator: match by term: Iron accumulation in brain ClinVar PMID:32581362 NCBI chr 6:43,517,089...44,461,400
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G REPS1 RALBP1 associated Eps domain containing 1 IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:29395073 NCBI chr 6:138,903,493...138,988,253
Ensembl chr 6:138,903,493...138,988,261 		JBrowse link
G WDR45 WD repeat domain 45 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation		 CTD
ClinVar		 PMID:16199547 PMID:23176820 PMID:23435086 PMID:24368176 PMID:24621584 More... NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170 		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 ANKRD54 ankyrin repeat domain 54 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,830,855...37,849,341
Ensembl chr22:37,830,855...37,849,327 		JBrowse link
G BAIAP2L2 BAR/IMD domain containing adaptor protein 2 like 2 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,084,900...38,110,967
Ensembl chr22:38,084,652...38,111,015 		JBrowse link
G C1QTNF6 C1q and TNF related 6 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,180,166...37,199,423
Ensembl chr22:37,180,166...37,199,385 		JBrowse link
G C22orf23 chromosome 22 open reading frame 23 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,943,050...37,953,669
Ensembl chr22:37,943,050...37,953,669 		JBrowse link
G CARD10 caspase recruitment domain family member 10 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,490,362...37,519,415
Ensembl chr22:37,490,362...37,519,542 		JBrowse link
G CBY1 chibby 1, beta catenin antagonist IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,656,638...38,673,850
Ensembl chr22:38,656,636...38,673,854 		JBrowse link
G CDC42EP1 CDC42 effector protein 1 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,560,480...37,569,405
Ensembl chr22:37,560,480...37,569,405 		JBrowse link
G CIMIP4 ciliary microtubule inner protein 4 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:36,991,125...37,007,851
Ensembl chr22:36,991,120...37,007,851 		JBrowse link
G CSF2RB colony stimulating factor 2 receptor subunit beta IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:36,913,628...36,940,439
Ensembl chr22:36,913,628...36,940,439 		JBrowse link
G CSNK1E casein kinase 1 epsilon IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,290,691...38,318,084
Ensembl chr22:38,290,691...38,318,084 		JBrowse link
G CYTH4 cytohesin 4 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,282,508...37,315,341
Ensembl chr22:37,282,027...37,315,341 		JBrowse link
G DDX17 DEAD-box helicase 17 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,483,438...38,506,311
Ensembl chr22:38,483,438...38,507,660 		JBrowse link
G DMC1 DNA meiotic recombinase 1 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,509,147...38,570,183
Ensembl chr22:38,518,948...38,570,204 		JBrowse link
G EIF3L eukaryotic translation initiation factor 3 subunit L IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,849,419...37,889,407
Ensembl chr22:37,848,868...37,889,407 		JBrowse link
G ELFN2 extracellular leucine rich repeat and fibronectin type III domain containing 2 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,340,644...37,427,479
Ensembl chr22:37,367,960...37,427,479
Ensembl chr22:37,367,960...37,427,479 		JBrowse link
G FAM227A family with sequence similarity 227 member A IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,578,118...38,656,392
Ensembl chr22:38,578,118...38,656,629 		JBrowse link
G GALR3 galanin receptor 3 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,823,382...37,825,485
Ensembl chr22:37,823,382...37,825,485 		JBrowse link
G GCAT glycine C-acetyltransferase IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,807,934...37,817,183
Ensembl chr22:37,807,905...37,817,176 		JBrowse link
G GGA1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,608,834...37,633,564
Ensembl chr22:37,608,725...37,633,564 		JBrowse link
G GTPBP1 GTP binding protein 1 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,705,944...38,743,115
Ensembl chr22:38,705,742...38,738,299 		JBrowse link
G H1-0 H1.0 linker histone IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,805,229...37,807,432
Ensembl chr22:37,805,229...37,807,432 		JBrowse link
G IFT27 intraflagellar transport 27 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118 		JBrowse link
G JOSD1 Josephin domain containing 1 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,685,543...38,701,403
Ensembl chr22:38,685,543...38,701,556 		JBrowse link
G KCNJ4 potassium inwardly rectifying channel subfamily J member 4 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,426,327...38,455,199
Ensembl chr22:38,426,327...38,455,199 		JBrowse link
G KCTD17 potassium channel tetramerization domain containing 17 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,051,742...37,063,390
Ensembl chr22:37,051,739...37,063,390 		JBrowse link
G KDELR3 KDEL endoplasmic reticulum protein retention receptor 3 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,468,096...38,483,447
Ensembl chr22:38,468,078...38,483,447 		JBrowse link
G LGALS1 galectin 1 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,675,636...37,679,802
Ensembl chr22:37,675,636...37,679,802 		JBrowse link
G LGALS2 galectin 2 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,570,248...37,580,087
Ensembl chr22:37,570,248...37,582,616 		JBrowse link
G LOC112695092 Sharpr-MPRA regulatory region 6169 IAGP ClinVar Annotator: match by term: PLA2G6-associated neurodegeneration ClinVar PMID:21812034 NCBI chr22:38,181,383...38,182,102 JBrowse link
G MAFF MAF bZIP transcription factor F IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,201,994...38,216,511
Ensembl chr22:38,200,767...38,216,507 		JBrowse link
G MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,469,063...37,486,384
Ensembl chr22:37,469,063...37,486,393 		JBrowse link
G MICALL1 MICAL like 1 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,906,297...37,942,822
Ensembl chr22:37,905,657...37,942,822 		JBrowse link
G MIR659 microRNA 659 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,847,678...37,847,774
Ensembl chr22:37,847,678...37,847,774 		JBrowse link
G MPST mercaptopyruvate sulfurtransferase IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,019,742...37,029,815
Ensembl chr22:37,019,635...37,029,821 		JBrowse link
G NCF4 neutrophil cytosolic factor 4 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:36,861,006...36,878,015
Ensembl chr22:36,860,988...36,878,017 		JBrowse link
G NOL12 nucleolar protein 12 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,686,343...37,693,474
Ensembl chr22:37,681,673...37,693,476 		JBrowse link
G PDXP pyridoxal phosphatase IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,658,723...37,666,932
Ensembl chr22:37,658,723...37,666,932 		JBrowse link
G PICK1 protein interacting with PRKCA 1 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,057,255...38,075,701
Ensembl chr22:38,056,311...38,075,701 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP
ISS
EXP		 DNA:deletions, missense mutations, nonsense mutation: exon:multiple
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy | ClinVar Annotator: match by term: PLA2G6-associated neurodegeneration
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy | ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy 1 | ClinVar Annotator: match by term: PLA2G6-associated neurodegeneration
OMIM:256600
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seitelberger disease		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2668131 PMID:9536098 PMID:16199547 PMID:16783378 PMID:17033970 More... RGD:12910703 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G POLR2F RNA polymerase II, I and III subunit F IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,953,663...38,041,915
Ensembl chr22:37,952,607...38,041,915 		JBrowse link
G PVALB parvalbumin IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:36,800,703...36,819,499
Ensembl chr22:36,800,684...36,819,479 		JBrowse link
G RAC2 Rac family small GTPase 2 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594 		JBrowse link
G RBM20 RNA binding motif protein 20 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy 1 ClinVar PMID:16783378 PMID:20301718 PMID:24033266 PMID:25351510 PMID:25741868 More... NCBI chr10:110,643,245...110,839,468
Ensembl chr10:110,644,336...110,839,468 		JBrowse link
G SH3BP1 SH3 domain binding protein 1 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,639,669...37,656,117
Ensembl chr22:37,634,654...37,656,117 		JBrowse link
G SLC16A8 solute carrier family 16 member 8 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,078,137...38,084,184
Ensembl chr22:38,078,134...38,084,184 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G SSTR3 somatostatin receptor 3 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,204,237...37,220,548
Ensembl chr22:37,204,237...37,212,477 		JBrowse link
G SUN2 Sad1 and UNC84 domain containing 2 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,734,734...38,755,998
Ensembl chr22:38,733,290...38,794,143 		JBrowse link
G TMEM184B transmembrane protein 184B IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,216,395...38,273,010
Ensembl chr22:38,219,291...38,273,010 		JBrowse link
G TMPRSS6 transmembrane serine protease 6 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,065,436...37,110,536
Ensembl chr22:37,065,436...37,109,713 		JBrowse link
G TOMM22 translocase of outer mitochondrial membrane 22 IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:38,681,957...38,685,421
Ensembl chr22:38,681,957...38,685,421 		JBrowse link
G TRIOBP TRIO and F-actin binding protein IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,697,048...37,776,556
Ensembl chr22:37,697,048...37,776,556 		JBrowse link
G TST thiosulfate sulfurtransferase IAGP ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:37,010,859...37,020,183
Ensembl chr22:37,010,859...37,020,183 		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 IAGP
EXP		 ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2b
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2B
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED		 OMIM
ClinVar
CTD		 PMID:2668131 PMID:16199547 PMID:16783378 PMID:17033970 PMID:18359254 More... NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		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 FTL ferritin light chain IAGP
EXP		 DNA:insertion:exon:460_461insA(human)
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 3 | ClinVar Annotator: match by term: Neuroferritinopathy
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon:
DNA:duplication:cds:458dupA(human)		 ClinVar
CTD
OMIM
RGD		 PMID:9414300 PMID:11438811 PMID:12746423 PMID:14662596 PMID:16116125 More... RGD:5509859, RGD:5509861, RGD:5509860 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,966,879 		JBrowse link
G GYS1 glycogen synthase 1 IAGP ClinVar Annotator: match by term: Neuroferritinopathy ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr19:48,968,130...48,993,309
Ensembl chr19:48,968,130...48,993,310 		JBrowse link
G LOC119369037 CRISPRi-FlowFISH-validated FTL regulatory element 4 IAGP ClinVar Annotator: match by term: Neuroferritinopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr19:48,970,828...48,971,348 JBrowse link
G LOC130064892 ATAC-STARR-seq lymphoblastoid active region 14919 IAGP ClinVar Annotator: match by term: Neuroferritinopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr19:48,965,549...48,965,598 JBrowse link
G LOC130064893 ATAC-STARR-seq lymphoblastoid active region 14920 IAGP ClinVar Annotator: match by term: Neuroferritinopathy ClinVar PMID:25741868 NCBI chr19:48,968,329...48,968,558 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 C19orf12 chromosome 19 open reading frame 12 IAGP
EXP		 ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:20039086 PMID:21981780 More... NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789 		JBrowse link
G LOC130064129 ATAC-STARR-seq lymphoblastoid silent region 10465 IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4 ClinVar NCBI chr19:29,714,796...29,715,585 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 AKAP4 A-kinase anchoring protein 4 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:50,190,777...50,201,007
Ensembl chr  X:50,190,777...50,201,007 		JBrowse link
G ARAF A-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:47,561,205...47,571,908
Ensembl chr  X:47,561,205...47,571,908 		JBrowse link
G BMP15 bone morphogenetic protein 15 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:50,910,735...50,916,641
Ensembl chr  X:50,910,735...50,916,641 		JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,205,063...49,233,340
Ensembl chr  X:49,205,063...49,233,371 		JBrowse link
G CCDC120 coiled-coil domain containing 120 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,053,572...49,069,858
Ensembl chr  X:49,053,572...49,069,857 		JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		JBrowse link
G CCNB3 cyclin B3 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:50,202,713...50,351,914
Ensembl chr  X:50,202,713...50,351,914 		JBrowse link
G CDK16 cyclin dependent kinase 16 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:47,218,303...47,229,997
Ensembl chr  X:47,217,860...47,229,997 		JBrowse link
G CFP complement factor properdin IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:47,623,282...47,630,305
Ensembl chr  X:47,623,172...47,630,305 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G DGKK diacylglycerol kinase kappa IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:50,365,409...50,470,825
Ensembl chr  X:50,365,409...50,470,825 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G ELK1 ETS transcription factor ELK1 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:47,635,520...47,650,604
Ensembl chr  X:47,635,521...47,650,604 		JBrowse link
G ERAS ES cell expressed Ras IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,826,513...48,829,869
Ensembl chr  X:48,826,513...48,830,138 		JBrowse link
G FOXP3 forkhead box P3 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,476,021...48,486,364
Ensembl chr  X:48,476,021...48,486,364 		JBrowse link
G GAGE1 G antigen 1 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,599,013...49,608,538
Ensembl chr  X:49,599,020...49,608,538 		JBrowse link
G GAGE12B G antigen 12B IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,341,164...49,529,982
Ensembl chr  X:49,529,869...49,529,985
Ensembl chr  X:49,529,869...49,529,985 		JBrowse link
G GAGE12C G antigen 12C IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,532,177...49,539,538
Ensembl chr  X:49,532,177...49,539,538 		JBrowse link
G GAGE12D G antigen 12D IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,541,733...49,549,094
Ensembl chr  X:49,541,733...49,549,094 		JBrowse link
G GAGE12E G antigen 12E IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,551,289...49,558,645
Ensembl chr  X:49,551,289...49,558,645 		JBrowse link
G GAGE12F G antigen 12F IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,560,842...49,568,205
Ensembl chr  X:49,551,278...49,568,218 		JBrowse link
G GAGE12G G antigen 12G IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,570,397...49,577,757
Ensembl chr  X:49,570,400...49,577,754 		JBrowse link
G GAGE12H G antigen 12H IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,579,949...49,587,301
Ensembl chr  X:49,579,949...49,587,301 		JBrowse link
G GAGE12I G antigen 12I IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,341,210...49,529,985
Ensembl chr  X:49,551,278...49,568,218
Ensembl chr  X:49,551,278...49,568,218 		JBrowse link
G GAGE12J G antigen 12J IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,322,037...49,329,384
Ensembl chr  X:49,322,037...49,329,384 		JBrowse link
G GAGE13 G antigen 13 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,331,582...49,338,949
Ensembl chr  X:49,331,582...49,338,949 		JBrowse link
G GAGE2A G antigen 2A IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,589,496...49,596,824
Ensembl chr  X:49,589,496...49,596,824 		JBrowse link
G GAGE2B G antigen 2B IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,331,615...49,338,933 JBrowse link
G GAGE2C G antigen 2C IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,331,615...49,338,962 JBrowse link
G GAGE2D G antigen 2D IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,560,844...49,568,208 JBrowse link
G GAGE2E G antigen 2E IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,560,886...49,568,208
Ensembl chr  X:49,341,192...49,345,922 		JBrowse link
G GAGE8 G antigen 8 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532
G GATA1 GATA binding protein 1 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GLOD5 glyoxalase domain containing 5 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,761,747...48,773,648
Ensembl chr  X:48,761,747...48,773,648 		JBrowse link
G GPKOW G-patch domain and KOW motifs IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,113,407...49,123,735
Ensembl chr  X:49,113,407...49,123,735 		JBrowse link
G GRIPAP1 GRIP1 associated protein 1 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,973,723...49,002,264
Ensembl chr  X:48,973,720...49,002,265 		JBrowse link
G HDAC6 histone deacetylase 6 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982 		JBrowse link
G INE1 inactivation escape 1 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:47,204,848...47,205,861
Ensembl chr  X:47,204,921...47,205,865 		JBrowse link
G KCND1 potassium voltage-gated channel subfamily D member 1 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,961,380...48,971,844
Ensembl chr  X:48,961,378...48,971,844 		JBrowse link
G LINC01560 long intergenic non-protein coding RNA 1560 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:47,482,716...47,485,227
Ensembl chr  X:47,483,571...47,484,823 		JBrowse link
G LOC126863256 BRD4-independent group 4 enhancer GRCh37_chrX:48934848-48936047 IAGP 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 term: Neurodegeneration with brain iron accumulation 5		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23176820 PMID:23435086 More... NCBI chr  X:49,077,189...49,078,388 JBrowse link
G MAGIX MAGI family member, X-linked IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,162,665...49,168,774
Ensembl chr  X:49,162,564...49,168,774 		JBrowse link
G MIR502 microRNA 502 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:50,014,598...50,014,683
Ensembl chr  X:50,014,598...50,014,683 		JBrowse link
G MIR532 microRNA 532 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:50,003,148...50,003,238
Ensembl chr  X:50,003,148...50,003,238 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration		 ClinVar PMID:28492532 NCBI chr  X:48,922,024...48,958,381
Ensembl chr  X:48,922,024...48,958,386 		JBrowse link
G PAGE1 PAGE family member 1 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,687,447...49,695,984
Ensembl chr  X:49,687,447...49,695,984 		JBrowse link
G PAGE4 PAGE family member 4 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,829,260...49,834,264
Ensembl chr  X:49,829,260...49,834,264 		JBrowse link
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,831,096...48,835,610
Ensembl chr  X:48,831,096...48,835,610 		JBrowse link
G PIM2 Pim-2 proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,913,182...48,919,024
Ensembl chr  X:48,913,182...48,919,024 		JBrowse link
G PLP2 proteolipid protein 2 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,171,898...49,175,235
Ensembl chr  X:49,171,898...49,175,235 		JBrowse link
G PORCN porcupine O-acyltransferase IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814 		JBrowse link
G PPP1R3F protein phosphatase 1 regulatory subunit 3F IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,269,793...49,301,469
Ensembl chr  X:49,269,793...49,301,461 		JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402 		JBrowse link
G PRAF2 PRA1 domain family member 2 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,071,161...49,074,002
Ensembl chr  X:49,071,161...49,074,002 		JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,174,802...49,186,373
Ensembl chr  X:49,174,802...49,186,528 		JBrowse link
G RBM10 RNA binding motif protein 10 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:47,145,221...47,186,813
Ensembl chr  X:47,145,221...47,186,813 		JBrowse link
G RBM3 RNA binding motif protein 3 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,574,484...48,581,162
Ensembl chr  X:48,574,449...48,581,162 		JBrowse link
G SHROOM4 shroom family member 4 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:50,575,534...50,814,194
Ensembl chr  X:50,586,796...50,814,302 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958 		JBrowse link
G SLC38A5 solute carrier family 38 member 5 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,458,544...48,470,260
Ensembl chr  X:48,458,537...48,470,260 		JBrowse link
G SPACA5 sperm acrosome associated 5 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,004,336...48,009,733
Ensembl chr  X:48,004,336...48,009,733 		JBrowse link
G SPACA5B sperm acrosome associated 5B IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,130,626...48,132,620
Ensembl chr  X:48,130,626...48,132,620 		JBrowse link
G SSX1 SSX family member 1 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,255,392...48,267,444
Ensembl chr  X:48,255,392...48,267,444 		JBrowse link
G SSX3 SSX family member 3 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,346,427...48,356,703
Ensembl chr  X:48,346,427...48,356,707 		JBrowse link
G SSX4 SSX family member 4 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,383,539...48,393,347
Ensembl chr  X:48,383,516...48,393,347
Ensembl chr  X:48,383,516...48,393,347 		JBrowse link
G SSX4B SSX family member 4B IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,402,082...48,411,960
Ensembl chr  X:48,402,082...48,411,960
Ensembl chr  X:48,402,082...48,411,960 		JBrowse link
G SSX5 SSX family member 5 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,186,220...48,196,795
Ensembl chr  X:48,186,220...48,196,795 		JBrowse link
G SUV39H1 SUV39H1 histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,695,554...48,709,016
Ensembl chr  X:48,695,554...48,709,016 		JBrowse link
G SYN1 synapsin I IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:47,571,901...47,619,857
Ensembl chr  X:47,571,901...47,619,857 		JBrowse link
G SYP synaptophysin IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,187,815...49,200,193
Ensembl chr  X:49,187,815...49,200,218 		JBrowse link
G TBC1D25 TBC1 domain family member 25 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,539,714...48,562,609
Ensembl chr  X:48,539,714...48,562,609 		JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,028,726...49,043,357
Ensembl chr  X:49,028,726...49,043,410 		JBrowse link
G TIMM17B translocase of inner mitochondrial membrane 17B IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,893,447...48,898,143
Ensembl chr  X:48,893,447...48,898,143 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:47,582,436...47,586,789
Ensembl chr  X:47,582,408...47,586,789 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
G USP11 ubiquitin specific peptidase 11 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:47,233,009...47,248,328
Ensembl chr  X:47,232,866...47,248,328 		JBrowse link
G USP27X ubiquitin specific peptidase 27 X-linked IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:49,879,484...49,882,558
Ensembl chr  X:49,879,484...49,882,558 		JBrowse link
G UXT ubiquitously expressed prefoldin like chaperone IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:47,651,796...47,659,180
Ensembl chr  X:47,651,796...47,659,180 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
G WDR13 WD repeat domain 13 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,597,492...48,608,869
Ensembl chr  X:48,590,042...48,608,869 		JBrowse link
G WDR45 WD repeat domain 45 IAGP
ISS
EXP		 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 term: Neurodegeneration with brain iron accumulation 5
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 | ClinVar Annotator: match by term: STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD
OMIM:300894
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22892189 PMID:23176820 More... NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170 		JBrowse link
G ZNF157 zinc finger protein 157 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:47,370,578...47,414,498
Ensembl chr  X:47,370,578...47,414,498 		JBrowse link
G ZNF182 zinc finger protein 182 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:47,974,851...48,003,989
Ensembl chr  X:47,974,851...48,003,989 		JBrowse link
G ZNF41 zinc finger protein 41 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:47,445,178...47,483,222
Ensembl chr  X:47,445,178...47,483,222 		JBrowse link
G ZNF630 zinc finger protein 630 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:48,057,516...48,071,640
Ensembl chr  X:47,983,356...48,071,658 		JBrowse link
G ZNF81 zinc finger protein 81 IAGP ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:47,836,902...47,925,627
Ensembl chr  X:47,836,902...48,002,561 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6
OMIM:615643
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21264299 PMID:24360804 More... NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277 		JBrowse link
G LOC130060908 ATAC-STARR-seq lymphoblastoid active region 12207 IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:42,562,484...42,562,673 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 IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 7 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29395073 NCBI chr 6:138,903,493...138,988,253
Ensembl chr 6:138,903,493...138,988,261 		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 IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 8 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29395073 NCBI chr 9:129,094,794...129,110,793
Ensembl chr 9:129,094,142...129,111,189 		JBrowse link
Neurodegeneration with Brain Iron Accumulation 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BEST1 bestrophin 1 IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 9 ClinVar PMID:37660254 NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515 		JBrowse link
G FTH1 ferritin heavy chain 1 IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 9 OMIM
ClinVar		 PMID:37660254 NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634 		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 OMIM
ClinVar		 PMID:25741868 PMID:25741905 PMID:28492532 PMID:30915432 PMID:31243445 NCBI chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hemochromatosis ClinVar
OMIM		 PMID:24259288 PMID:34875027 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		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:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 More... 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 post translational regulator 1 IAGP ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25741905 PMID:25795793 PMID:28492532 PMID:30368668 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
pantothenate kinase-associated neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM33 ADAM metallopeptidase domain 33 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:3,667,975...3,682,010
Ensembl chr20:3,667,965...3,682,246 		JBrowse link
G ADISSP adipose secreted signaling protein IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:3,753,508...3,768,388
Ensembl chr20:3,753,508...3,767,781 		JBrowse link
G ADRA1D adrenoceptor alpha 1D IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:4,220,630...4,249,287
Ensembl chr20:4,220,630...4,249,287 		JBrowse link
G AP5S1 adaptor related protein complex 5 subunit sigma 1 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:3,820,547...3,828,838
Ensembl chr20:3,820,524...3,828,838 		JBrowse link
G ATRN attractin IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:3,471,018...3,651,118
Ensembl chr20:3,471,018...3,651,118 		JBrowse link
G AVP arginine vasopressin IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:3,082,556...3,084,724
Ensembl chr20:3,082,556...3,084,724 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G C20orf141 chromosome 20 open reading frame 141 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:2,814,987...2,815,830
Ensembl chr20:2,814,987...2,815,833 		JBrowse link
G CDC25B cell division cycle 25B IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:3,786,951...3,806,115
Ensembl chr20:3,786,772...3,806,121 		JBrowse link
G CDS2 CDP-diacylglycerol synthase 2 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:5,127,008...5,197,887
Ensembl chr20:5,126,879...5,197,887 		JBrowse link
G CENPB centromere protein B IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:3,783,851...3,786,740
Ensembl chr20:3,783,851...3,786,740 		JBrowse link
G CHGB chromogranin B IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:5,911,510...5,925,353
Ensembl chr20:5,911,510...5,925,353 		JBrowse link
G CPXM1 carboxypeptidase X, M14 family member 1 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:2,794,074...2,800,627
Ensembl chr20:2,794,074...2,800,627 		JBrowse link
G CRLS1 cardiolipin synthase 1 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:6,005,938...6,040,053
Ensembl chr20:6,006,093...6,040,053 		JBrowse link
G DDRGK1 DDRGK domain containing 1 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,190,350...3,204,685 		JBrowse link
G DNAAF9 dynein axonemal assembly factor 9 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:3,249,306...3,407,669
Ensembl chr20:3,249,306...3,407,669 		JBrowse link
G EBF4 EBF family member 4 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:2,692,780...2,760,108
Ensembl chr20:2,692,780...2,760,108 		JBrowse link
G FASTKD5 FAST kinase domains 5 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:3,146,519...3,159,865
Ensembl chr20:3,146,519...3,159,865 		JBrowse link
G FERMT1 FERM domain containing kindlin 1 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214 		JBrowse link
G GFRA4 GDNF family receptor alpha 4 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:3,659,248...3,663,399
Ensembl chr20:3,659,248...3,663,399 		JBrowse link
G GNRH2 gonadotropin releasing hormone 2 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:3,043,622...3,045,747
Ensembl chr20:3,043,622...3,045,747 		JBrowse link
G GPCPD1 glycerophosphocholine phosphodiesterase 1 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:5,544,439...5,611,006
Ensembl chr20:5,544,439...5,611,006 		JBrowse link
G HSPA12B heat shock protein family A (Hsp70) member 12B IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:3,732,685...3,753,111
Ensembl chr20:3,732,685...3,753,111 		JBrowse link
G IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:2,658,395...2,664,216
Ensembl chr20:2,658,395...2,664,219 		JBrowse link
G ITPA inosine triphosphatase IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:3,204,065...3,227,449
Ensembl chr20:3,208,868...3,223,870 		JBrowse link
G LOC125384566 Sharpr-MPRA regulatory region 6416 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:11479594 PMID:12510040 PMID:16437574 PMID:28492532 NCBI chr20:3,896,302...3,896,596 JBrowse link
G LOC130065344 ATAC-STARR-seq lymphoblastoid silent region 12634 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:11479594 PMID:12510040 PMID:16437574 PMID:28492532 NCBI chr20:3,889,022...3,889,081 JBrowse link
G LOC130065345 ATAC-STARR-seq lymphoblastoid silent region 12635 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | ClinVar Annotator: match by term: Pigmentary pallidal degeneration		 ClinVar PMID:3043782 PMID:9536098 PMID:11479594 PMID:12510040 PMID:15565311 More... NCBI chr20:3,889,272...3,889,771 JBrowse link
G LOC130065346 ATAC-STARR-seq lymphoblastoid active region 17488 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:11479594 PMID:12510040 PMID:16437574 PMID:28492532 NCBI chr20:3,897,613...3,897,842 JBrowse link
G LOC130065347 ATAC-STARR-seq lymphoblastoid active region 17489 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:11479594 PMID:12510040 PMID:16437574 PMID:28492532 NCBI chr20:3,906,738...3,906,817 JBrowse link
G LRRN4 leucine rich repeat neuronal 4 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:6,040,546...6,054,060
Ensembl chr20:6,040,546...6,054,060 		JBrowse link
G LZTS3 leucine zipper tumor suppressor family member 3 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:3,162,617...3,173,549
Ensembl chr20:3,162,617...3,173,549 		JBrowse link
G MAVS mitochondrial antiviral signaling protein IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:25741868 PMID:28492532 NCBI chr20:3,846,834...3,876,118
Ensembl chr20:3,846,799...3,876,123 		JBrowse link
G MCM8 minichromosome maintenance 8 homologous recombination repair factor IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:5,950,652...5,998,977
Ensembl chr20:5,950,652...5,998,977 		JBrowse link
G MIR103A2 microRNA 103a-2 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:11479594 PMID:12510040 PMID:15565311 PMID:15659606 PMID:16272150 More... NCBI chr20:3,917,494...3,917,571
Ensembl chr20:3,917,494...3,917,571 		JBrowse link
G MIR103B2 microRNA 103b-2 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:11479594 PMID:12510040 PMID:15565311 PMID:15659606 PMID:16272150 More... NCBI chr20:3,917,502...3,917,563
Ensembl chr20:3,917,502...3,917,563 		JBrowse link
G MIR1292 microRNA 1292 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:2,652,777...2,652,842
Ensembl chr20:2,652,777...2,652,842 		JBrowse link
G MRPS26 mitochondrial ribosomal protein S26 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:3,046,052...3,048,250
Ensembl chr20:3,046,052...3,048,250 		JBrowse link
G NOP56 NOP56 ribonucleoprotein IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:2,652,632...2,658,393
Ensembl chr20:2,652,593...2,658,393 		JBrowse link
G OXT oxytocin/neurophysin I prepropeptide IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:3,071,620...3,072,517
Ensembl chr20:3,071,620...3,072,517 		JBrowse link
G PANK2 pantothenate kinase 2 IAGP
EXP		 ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | ClinVar Annotator: match by term: Pigmentary pallidal degeneration
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1301187 PMID:1734303 PMID:3043782 PMID:7898702 PMID:9536098 More... NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887 		JBrowse link
G PCED1A PC-esterase domain containing 1A IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:2,835,314...2,841,151
Ensembl chr20:2,835,314...2,841,190 		JBrowse link
G PCNA proliferating cell nuclear antigen IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626 		JBrowse link
G PCNA-AS1 PCNA antisense RNA 1 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:5,119,586...5,119,969 JBrowse link
G PDYN prodynorphin IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:1,978,756...1,994,285
Ensembl chr20:1,978,757...1,994,285 		JBrowse link
G PRND prion like protein doppel IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:4,721,909...4,728,460
Ensembl chr20:4,721,909...4,728,460 		JBrowse link
G PRNP prion protein (Kanno blood group) IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590 		JBrowse link
G PROKR2 prokineticin receptor 2 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G PTPRA protein tyrosine phosphatase receptor type A IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:2,864,184...3,038,669
Ensembl chr20:2,873,420...3,039,076 		JBrowse link
G RASSF2 Ras association domain family member 2 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:4,780,023...4,823,608
Ensembl chr20:4,780,023...4,823,608 		JBrowse link
G RNF24 ring finger protein 24 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:3,927,311...4,015,558
Ensembl chr20:3,927,309...4,015,558 		JBrowse link
G SHLD1 shieldin complex subunit 1 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:5,750,193...5,864,395
Ensembl chr20:5,750,393...5,864,395 		JBrowse link
G SIGLEC1 sialic acid binding Ig like lectin 1 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:3,686,970...3,712,600
Ensembl chr20:3,686,970...3,712,600 		JBrowse link
G SLC23A2 solute carrier family 23 member 2 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:4,852,358...5,010,313
Ensembl chr20:4,852,356...5,010,293 		JBrowse link
G SLC4A11 solute carrier family 4 member 11 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:3,227,417...3,239,559
Ensembl chr20:3,227,417...3,239,559 		JBrowse link
G SMOX spermine oxidase IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:4,148,828...4,187,727
Ensembl chr20:4,120,980...4,187,747 		JBrowse link
G SNCA synuclein alpha IEP RGD PMID:10934140 RGD:6480098 NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315 		JBrowse link
G SNCB synuclein beta IEP RGD PMID:10934140 RGD:6480098 NCBI chr 5:176,620,082...176,630,534
Ensembl chr 5:176,620,082...176,630,556 		JBrowse link
G SNCG synuclein gamma IEP RGD PMID:10934140 RGD:6480098 NCBI chr10:86,955,759...86,963,258
Ensembl chr10:86,958,599...86,963,258 		JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853 		JBrowse link
G SPEF1 sperm flagellar 1 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:3,777,504...3,781,448
Ensembl chr20:3,777,504...3,781,448 		JBrowse link
G STK35 serine/threonine kinase 35 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:2,101,827...2,148,555
Ensembl chr20:2,101,827...2,177,038 		JBrowse link
G TGM3 transglutaminase 3 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:2,296,001...2,341,079
Ensembl chr20:2,296,001...2,341,079 		JBrowse link
G TGM6 transglutaminase 6 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:2,380,901...2,432,753
Ensembl chr20:2,380,901...2,432,753 		JBrowse link
G TMC2 transmembrane channel like 2 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:2,536,573...2,643,580
Ensembl chr20:2,536,573...2,643,580 		JBrowse link
G TMEM230 transmembrane protein 230 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:5,059,116...5,113,076
Ensembl chr20:5,068,232...5,113,103 		JBrowse link
G TMEM239 transmembrane protein 239 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:2,815,784...2,820,284
Ensembl chr20:2,816,302...2,820,284 		JBrowse link
G TRMT6 tRNA methyltransferase 6 non-catalytic subunit IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:5,937,228...5,950,533
Ensembl chr20:5,937,228...5,950,558 		JBrowse link
G UBOX5 U-box domain containing 5 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:3,107,573...3,159,865
Ensembl chr20:3,107,573...3,160,196 		JBrowse link
G VPS16 VPS16 core subunit of CORVET and HOPS complexes IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:2,840,745...2,866,732
Ensembl chr20:2,840,703...2,866,732 		JBrowse link
G ZNF343 zinc finger protein 343 IAGP ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr20:2,481,817...2,524,999
Ensembl chr20:2,481,817...2,524,702 		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, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia
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
ClinVar Annotator: match by term: ALAS2-related condition | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.R452H, R452C, K156E(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)		 ClinVar
CTD
OMIM
RGD		 PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 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 Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1
ClinVar Annotator: match by term: ALAS2-related condition | ClinVar Annotator: match by term: Anemia, sideroblastic, 1
ClinVar Annotator: match by term: ALAS2-related condition | ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory		 ClinVar PMID:18823803 PMID:23315997 PMID:24166784 PMID:25741868 PMID:28492532 More... NCBI chr  X:55,023,757...55,030,982 JBrowse link
G LOC129936510 ATAC-STARR-seq lymphoblastoid active region 19704 IAGP ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar PMID:28492532
G PAGE2B PAGE family member 2B IAGP ClinVar Annotator: match by term: Anemia, sideroblastic, 1
ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory
ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia		 ClinVar PMID:12663458 PMID:18823803 PMID:23315997 PMID:24166784 PMID:25741868 More... 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 Annotator: match by term: X chromosome-linked sideroblastic anemia ClinVar PMID:25741868 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 41189
    Nutritional and Metabolic Diseases 10566
      disease of metabolism 10566
        mineral metabolism disease 1494
          iron metabolism disease 373
            Heme Oxygenase 1 Deficiency 1
            Hyperferritinemia + 7
            Iron Overload + 42
            L-Ferritin Deficiency 2
            aceruloplasminemia 3
            iron deficiency anemia + 109
            neurodegeneration with brain iron accumulation + 234
Path 2
Term Annotations click to browse term
  disease 41189
    Nutritional and Metabolic Diseases 10566
      disease of metabolism 10566
        acquired metabolic disease 3463
          mineral metabolism disease 1494
            iron metabolism disease 373
              Heme Oxygenase 1 Deficiency 1
              Hyperferritinemia + 7
              Iron Overload + 42
              L-Ferritin Deficiency 2
              aceruloplasminemia 3
              iron deficiency anemia + 109
              neurodegeneration with brain iron accumulation + 234
paths to the root