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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:neurodegeneration with brain iron accumulation
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Accession:DOID:0110734 term browser browse the term
Definition:A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. (DO)
Synonyms:exact_synonym: NBIA;   Neurodegeneration with brain iron accumulation (NBIA)
 narrow_synonym: Neuroaxonal dystrophy, PLA2G6-related;   Neurodegeneration with brain iron accumulation 1, atypical
 related_synonym: Iron Accumulation In Brain
 primary_id: MESH:C538421
 alt_id: OMIA:002105;   RDO:0004395
 xref: GARD:11899;   OMIM:PS234200;   ORDO:385
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
neurodegeneration with brain iron accumulation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Iron accumulation in brain ClinVar PMID:32581362 NCBI chr17:45,503,515...45,520,843
Ensembl chr17:45,506,841...45,520,843
JBrowse link
G Atp13a2 ATPase type 13A2 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:16964263 PMID:21696388 PMID:26467025 PMID:28492532 NCBI chr 4:140,986,216...141,007,330
Ensembl chr 4:140,986,873...141,007,330
JBrowse link
G Crat carnitine acetyltransferase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:25741868 PMID:29395073 NCBI chr 2:30,400,476...30,416,017
Ensembl chr 2:30,400,471...30,415,813
JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 1, atypical
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11479594 PMID:12510040 PMID:15565311 PMID:15659606 PMID:15834858 More... NCBI chr 2:131,262,008...131,299,188
Ensembl chr 2:131,262,495...131,299,188
JBrowse link
G Pla2g6 phospholipase A2, group VI ISO ClinVar Annotator: match by term: Iron accumulation in brain
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar PMID:16783378 PMID:17033970 PMID:18359254 PMID:18414213 PMID:18443314 More... NCBI chr15:79,286,228...79,328,385
Ensembl chr15:79,286,228...79,328,390
JBrowse link
G Polr1c polymerase (RNA) I polypeptide C ISO ClinVar Annotator: match by term: Iron accumulation in brain ClinVar PMID:32581362 NCBI chr17:46,243,920...46,248,045
Ensembl chr17:46,243,920...46,248,054
JBrowse link
G Reps1 RalBP1 associated Eps domain containing protein ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:29395073 NCBI chr10:18,055,562...18,125,155
Ensembl chr10:18,055,861...18,125,155
JBrowse link
G Wdr45 WD repeat domain 45 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
CTD
ClinVar
PMID:23176820 PMID:23435086 PMID:24368176 PMID:24621584 PMID:25741868 More... NCBI chr  X:7,721,987...7,728,201
Ensembl chr  X:7,714,333...7,728,206
JBrowse link
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
ClinVar Annotator: match by OMIM:607236
OMIM
ClinVar
PMID:1734303 PMID:7898702 PMID:11479594 PMID:12058097 PMID:12510040 More... NCBI chr 2:131,262,008...131,299,188
Ensembl chr 2:131,262,495...131,299,188
JBrowse link
neurodegeneration with brain iron accumulation 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2, group VI ISO
IEA
ClinVar Annotator: match by term: Seitelberger disease
ClinVar Annotator: match by term: PLA2G6-associated neurodegeneration
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
OMIM:256600
DNA:deletions, missense mutations, nonsense mutation: exon:multiple
OMIM
ClinVar
MouseDO
RGD
PMID:9536098 PMID:16783378 PMID:17033970 PMID:17576681 PMID:18359254 More... RGD:12910703 NCBI chr15:79,286,228...79,328,385
Ensembl chr15:79,286,228...79,328,390
JBrowse link
neurodegeneration with brain iron accumulation 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2, group VI ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2b
ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED
ClinVar Annotator: match by OMIM:610217
OMIM
ClinVar
PMID:16783378 PMID:17033970 PMID:18359254 PMID:18414213 PMID:18443314 More... NCBI chr15:79,286,228...79,328,385
Ensembl chr15:79,286,228...79,328,390
JBrowse link
neurodegeneration with brain iron accumulation 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftl1 ferritin light polypeptide 1 ISO DNA:insertion:exon:460_461insA(human)
ClinVar Annotator: match by term: Neuroferritinopathy
ClinVar Annotator: match by OMIM:606159
DNA:duplication:cds:458dupA(human)
DNA:mutations:exon:
ClinVar
OMIM
RGD
PMID:11438811 PMID:12746423 PMID:16116125 PMID:17182944 PMID:18413574 More... RGD:5509859, RGD:5509860, RGD:5509861 NCBI chr 7:45,457,944...45,459,886
Ensembl chr 7:45,457,944...45,459,884
JBrowse link
G Gys1 glycogen synthase 1, muscle ISO ClinVar Annotator: match by term: Neuroferritinopathy ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 7:45,434,839...45,456,617
Ensembl chr 7:45,434,844...45,456,619
JBrowse link
neurodegeneration with brain iron accumulation 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1600014C10Rik RIKEN cDNA 1600014C10 gene ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4
ClinVar Annotator: match by term: MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION
ClinVar Annotator: match by OMIM:614298
OMIM
ClinVar
PMID:18414213 PMID:20039086 PMID:21981780 PMID:22508347 PMID:22584950 More... NCBI chr 7:38,183,217...38,197,568
Ensembl chr 7:38,183,217...38,197,568
JBrowse link
neurodegeneration with brain iron accumulation 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btbd35f6 BTB domain containing 35, family member 6 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:33,954,674...33,956,593
Ensembl chr  X:33,955,044...33,956,540
JBrowse link
G Cacna1f calcium channel, voltage-dependent, alpha 1F subunit ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,607,103...7,635,196
Ensembl chr  X:7,607,083...7,635,196
JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,731,714...7,741,324
Ensembl chr  X:7,731,714...7,750,905
JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,593,809...7,605,420
Ensembl chr  X:7,593,809...7,605,517
JBrowse link
G Clcn5 chloride channel, voltage-sensitive 5 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,153,810...7,319,358
Ensembl chr  X:7,153,810...7,319,358
JBrowse link
G Ebp phenylalkylamine Ca2+ antagonist (emopamil) binding protein ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:8,185,329...8,193,512
Ensembl chr  X:8,185,329...8,193,512
JBrowse link
G Eras ES cell-expressed Ras ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,924,276...7,928,607
Ensembl chr  X:7,924,276...7,928,607
JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,579,676...7,595,243
Ensembl chr  X:7,573,644...7,595,245
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,959,260...7,976,663
Ensembl chr  X:7,959,260...7,978,071
JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:8,004,201...8,018,492
Ensembl chr  X:8,004,200...8,018,492
JBrowse link
G Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,697,134...7,710,261
Ensembl chr  X:7,697,131...7,710,262
JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,789,961...7,820,567
Ensembl chr  X:7,789,765...7,820,567
JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,930,116...7,948,047
Ensembl chr  X:7,930,120...7,947,889
JBrowse link
G Kcnd1 potassium voltage-gated channel, Shal-related family, member 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,823,759...7,838,278
Ensembl chr  X:7,822,289...7,838,280
JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,673,166...7,681,251
Ensembl chr  X:7,673,164...7,681,251
JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,237,683...7,237,774
Ensembl chr  X:7,237,683...7,237,774
JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,248,402...7,248,497
Ensembl chr  X:7,248,402...7,248,497
JBrowse link
G Otud5 OTU domain containing 5 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,839,613...7,876,626
Ensembl chr  X:7,841,364...7,876,626
JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,919,822...7,924,410
Ensembl chr  X:7,919,822...7,924,410
JBrowse link
G Pim2 proviral integration site 2 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,878,306...7,883,432
Ensembl chr  X:7,878,262...7,883,432
JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,667,941...7,671,390
Ensembl chr  X:7,667,941...7,671,390
JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,558,562...7,574,281
Ensembl chr  X:7,557,296...7,574,283
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,894,519...7,899,269
Ensembl chr  X:7,894,519...7,899,269
JBrowse link
G Praf2 PRA1 domain family 2 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,728,571...7,731,063
Ensembl chr  X:7,728,439...7,731,064
JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,657,379...7,668,197
Ensembl chr  X:7,657,260...7,668,186
JBrowse link
G Rbm3 RNA binding motif (RNP1, RRM) protein 3 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:8,138,975...8,145,880
Ensembl chr  X:8,138,975...8,145,880
JBrowse link
G Slc35a2 solute carrier family 35 (UDP-galactose transporter), member A2 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,883,921...7,894,492
Ensembl chr  X:7,884,028...7,894,492
JBrowse link
G Suv39h1 suppressor of variegation 3-9 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:8,061,171...8,074,760
Ensembl chr  X:8,061,171...8,074,760
JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,638,580...7,653,256
Ensembl chr  X:7,638,471...7,653,256
JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:8,154,470...8,176,181
Ensembl chr  X:8,154,472...8,176,181
JBrowse link
G Tfe3 transcription factor E3 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,762,530...7,775,202
Ensembl chr  X:7,762,560...7,775,202
JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17b ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,899,336...7,907,652
Ensembl chr  X:7,899,357...7,908,351
JBrowse link
G Usp27x ubiquitin specific peptidase 27, X chromosome ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:7,372,591...7,375,830
Ensembl chr  X:7,371,274...7,375,830
Ensembl chr  X:7,371,274...7,375,830
JBrowse link
G Was Wiskott-Aldrich syndrome ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:8,081,466...8,090,491
Ensembl chr  X:8,081,453...8,090,498
JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:8,123,301...8,132,858
Ensembl chr  X:8,123,301...8,132,892
JBrowse link
G Wdr45 WD repeat domain 45 ISO
IEA
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
OMIM:300894
ClinVar Annotator: match by term: Beta-Propeller protein-associated Neurodegeneration
ClinVar Annotator: match by OMIM:300894
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22892189 PMID:23176820 More... NCBI chr  X:7,721,987...7,728,201
Ensembl chr  X:7,714,333...7,728,206
JBrowse link
neurodegeneration with brain iron accumulation 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coasy Coenzyme A synthase ISO
IEA
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6
OMIM:615643
ClinVar Annotator: match by OMIM:615643
OMIM
ClinVar
MouseDO
PMID:24360804 PMID:25741868 PMID:28489334 PMID:28492532 PMID:28688840 More... NCBI chr11:101,082,565...101,086,619
Ensembl chr11:101,082,565...101,086,619
JBrowse link
Neurodegeneration with Brain Iron Accumulation 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reps1 RalBP1 associated Eps domain containing protein ISO ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 ClinVar
OMIM
PMID:25741868 PMID:29395073 NCBI chr10:18,055,562...18,125,155
Ensembl chr10:18,055,861...18,125,155
JBrowse link
Neurodegeneration with Brain Iron Accumulation 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crat carnitine acetyltransferase ISO ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 8
OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29395073 NCBI chr 2:30,400,476...30,416,017
Ensembl chr 2:30,400,471...30,415,813
JBrowse link
pantothenate kinase-associated neurodegeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mavs mitochondrial antiviral signaling protein ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:25741868 NCBI chr 2:131,234,063...131,248,025
Ensembl chr 2:131,234,063...131,248,025
JBrowse link
G Mir103-2 microRNA 103-2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:25741868 NCBI chr 2:131,288,052...131,288,137
Ensembl chr 2:131,288,052...131,288,137
JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar Annotator: match by OMIM:234200
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1301187 PMID:1734303 PMID:7898702 PMID:11479594 PMID:12058097 More... NCBI chr 2:131,262,008...131,299,188
Ensembl chr 2:131,262,495...131,299,188
JBrowse link
G Snca synuclein, alpha ISO RGD PMID:10934140 RGD:6480098 NCBI chr 6:60,731,573...60,829,855
Ensembl chr 6:60,731,575...60,829,855
JBrowse link
G Sncb synuclein, beta ISO RGD PMID:10934140 RGD:6480098 NCBI chr13:54,758,860...54,766,622
Ensembl chr13:54,758,860...54,766,595
JBrowse link
G Sncg synuclein, gamma ISO RGD PMID:10934140 RGD:6480098 NCBI chr14:34,370,274...34,374,669
Ensembl chr14:34,370,274...34,374,789
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14615
    disease of anatomical entity 14222
      nervous system disease 11653
        neurodegenerative disease 3437
          neurodegeneration with brain iron accumulation 52
            Neurodegeneration with Brain Iron Accumulation 7 1
            Neurodegeneration with Brain Iron Accumulation 8 1
            neurodegeneration with brain iron accumulation 2A 1
            neurodegeneration with brain iron accumulation 2B 1
            neurodegeneration with brain iron accumulation 3 2
            neurodegeneration with brain iron accumulation 4 1
            neurodegeneration with brain iron accumulation 5 36
            neurodegeneration with brain iron accumulation 6 1
            pantothenate kinase-associated neurodegeneration + 6
Path 2
Term Annotations click to browse term
  disease 14615
    disease of anatomical entity 14222
      nervous system disease 11653
        central nervous system disease 10172
          brain disease 9560
            cerebral degeneration 364
              neuroaxonal dystrophy 70
                neurodegeneration with brain iron accumulation 52
                  Neurodegeneration with Brain Iron Accumulation 7 1
                  Neurodegeneration with Brain Iron Accumulation 8 1
                  neurodegeneration with brain iron accumulation 2A 1
                  neurodegeneration with brain iron accumulation 2B 1
                  neurodegeneration with brain iron accumulation 3 2
                  neurodegeneration with brain iron accumulation 4 1
                  neurodegeneration with brain iron accumulation 5 36
                  neurodegeneration with brain iron accumulation 6 1
                  pantothenate kinase-associated neurodegeneration + 6
paths to the root