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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 2A
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Accession:DOID:0110735 term browser browse the term
Definition:A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life. (DO)
Synonyms:exact_synonym: INAD;   INAD1;   Infantile neuroaxonal dystrophy 1;   NBIA2A;   PLAN;   Seitelberger disease;   Seitelberger's disease;   Seitelbergers disease;   infantile neuroaxonal dystrophy;   neurodegeneration, PLA2G6-associated
 primary_id: MIM:256600
 xref: GARD:2751;   NCI:C202073;   NCI:C84927


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neurodegeneration with brain iron accumulation 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD54 ankyrin repeat domain 54 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,748,498...18,766,233 JBrowse link
G C1QTNF6 C1q and TNF related 6 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,093,940...18,112,459
Ensembl chr22:35,928,835...35,937,021 		JBrowse link
G C23H22orf23 chromosome 23 C22orf23 homolog ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,846,688...18,868,886 JBrowse link
G CARD10 caspase recruitment domain family member 10 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,407,374...18,437,728
Ensembl chr22:36,240,898...36,268,546 		JBrowse link
G CBY1 chibby 1, beta catenin antagonist ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:19,571,658...19,588,872
Ensembl chr22:37,389,948...37,406,879 		JBrowse link
G CDC42EP1 CDC42 effector protein 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,478,478...18,487,416
Ensembl chr22:36,316,902...36,319,349 		JBrowse link
G CIMIP4 ciliary microtubule inner protein 4 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:17,905,387...17,922,201
Ensembl chr22:35,740,255...35,758,056 		JBrowse link
G CLCN1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy 1 ClinVar PMID:1379744 PMID:8301644 PMID:8533761 PMID:9040760 PMID:10360989 More... NCBI chr 7:135,308,966...135,346,734
Ensembl chr 7:147,801,440...147,836,701 		JBrowse link
G CSF2RB colony stimulating factor 2 receptor subunit beta ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:17,831,313...17,858,272
Ensembl chr22:35,666,734...35,693,701 		JBrowse link
G CSNK1E casein kinase 1 epsilon ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:19,202,599...19,229,344
Ensembl chr22:37,027,094...37,072,942 		JBrowse link
G CYTH4 cytohesin 4 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,197,307...18,230,274
Ensembl chr22:36,040,326...36,061,264 		JBrowse link
G DDX17 DEAD-box helicase 17 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:19,398,801...19,421,587
Ensembl chr22:37,218,884...37,241,425 		JBrowse link
G DMC1 DNA meiotic recombinase 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:19,433,989...19,485,804
Ensembl chr22:37,253,609...37,305,769 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy 1 ClinVar PMID:11727201 PMID:12673792 PMID:12955720 PMID:16385454 PMID:16783378 More... NCBI chr19:10,747,850...10,811,483
Ensembl chr19:11,459,062...11,513,220 		JBrowse link
G EIF3L eukaryotic translation initiation factor 3 subunit L ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,765,793...18,803,910
Ensembl chr22:36,595,956...36,632,513 		JBrowse link
G ELFN2 extracellular leucine rich repeat and fibronectin type III domain containing 2 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,254,614...18,343,027
Ensembl chr22:36,120,755...36,123,217 		JBrowse link
G FAM227A family with sequence similarity 227 member A ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:19,500,521...19,571,585
Ensembl chr22:37,317,585...37,383,992 		JBrowse link
G GALR3 galanin receptor 3 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,736,957...18,741,207 JBrowse link
G GCAT glycine C-acetyltransferase ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,722,886...18,731,963
Ensembl chr22:36,554,067...36,563,429 		JBrowse link
G GGA1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,526,456...18,551,640
Ensembl chr22:36,359,744...36,384,707 		JBrowse link
G GTPBP1 GTP binding protein 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:19,621,159...19,648,848
Ensembl chr22:37,438,626...37,462,933 		JBrowse link
G IFT27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:17,672,602...17,690,568
Ensembl chr22:35,509,449...35,519,079 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,039,469...18,069,952
Ensembl chr22:35,874,898...35,899,038 		JBrowse link
G JOSD1 Josephin domain containing 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:19,600,557...19,616,314
Ensembl chr22:37,418,283...37,433,250 		JBrowse link
G KCNJ4 potassium inwardly rectifying channel subfamily J member 4 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:19,341,699...19,370,666
Ensembl chr22:37,163,760...37,165,097 		JBrowse link
G KCTD17 potassium channel tetramerization domain containing 17 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:17,965,397...17,977,048
Ensembl chr22:35,801,379...35,813,005 		JBrowse link
G KDELR3 KDEL endoplasmic reticulum protein retention receptor 3 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:19,370,008...19,398,810
Ensembl chr22:37,203,671...37,218,893 		JBrowse link
G LGALS1 galectin 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,593,154...18,597,432
Ensembl chr22:36,426,228...36,430,356 		JBrowse link
G LGALS2 galectin 2 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,488,257...18,498,401
Ensembl chr22:36,320,775...36,330,281 		JBrowse link
G LOC100968722 chronophin ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,552,737...18,585,014
Ensembl chr22:36,391,200...36,407,938 		JBrowse link
G LOC100970460 histone H1.0 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,720,235...18,722,440
Ensembl chr22:36,551,693...36,552,277 		JBrowse link
G MAFF MAF bZIP transcription factor F ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:19,114,929...19,129,901 JBrowse link
G MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,385,664...18,407,056
Ensembl chr22:36,218,403...36,239,804 		JBrowse link
G MICALL1 MICAL like 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,821,562...18,857,261
Ensembl chr22:36,646,377...36,684,644 		JBrowse link
G MPST mercaptopyruvate sulfurtransferase ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:17,933,995...17,944,196
Ensembl chr22:35,770,209...35,780,250 		JBrowse link
G NCF4 neutrophil cytosolic factor 4 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:17,775,590...17,795,725
Ensembl chr22:35,611,589...35,631,400 		JBrowse link
G NOL12 nucleolar protein 12 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,603,990...18,611,060
Ensembl chr22:36,436,402...36,443,662 		JBrowse link
G PICK1 protein interacting with PRKCA 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 Ensembl chr22:36,796,015...36,814,469 JBrowse link
G PLA2G6 phospholipase A2 group VI ISO 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 | ClinVar Annotator: match by term: Seitelberger disease OMIM
ClinVar		 PMID:2668131 PMID:9536098 PMID:16199547 PMID:16783378 PMID:17033970 More... NCBI chr22:18,998,060...19,094,507
Ensembl chr22:36,849,794...36,919,509
Ensembl chr22:36,849,794...36,919,509 		JBrowse link
G POLR2F RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,868,872...18,988,918
Ensembl chr22:36,796,015...36,814,469 		JBrowse link
G PVALB parvalbumin ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:17,715,109...17,731,587
Ensembl chr22:35,551,448...35,568,316 		JBrowse link
G RAC2 Rac family small GTPase 2 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,138,517...18,159,023
Ensembl chr22:35,973,229...35,992,026 		JBrowse link
G SLC16A8 solute carrier family 16 member 8 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,991,316...18,996,071
Ensembl chr22:36,817,117...36,821,606 		JBrowse link
G SOX10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,885,679...18,897,927
Ensembl chr22:36,713,310...36,723,439 		JBrowse link
G SSTR3 somatostatin receptor 3 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,116,993...18,125,170
Ensembl chr22:35,954,232...35,955,488 		JBrowse link
G SUN2 Sad1 and UNC84 domain containing 2 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:19,649,993...19,671,340
Ensembl chr22:37,466,953...37,487,779 		JBrowse link
G TMEM184B transmembrane protein 184B ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:19,129,580...19,184,852
Ensembl chr22:36,957,324...37,010,074 		JBrowse link
G TMPRSS6 transmembrane serine protease 6 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:17,979,094...18,032,590
Ensembl chr22:35,815,051...35,859,940 		JBrowse link
G TOMM22 translocase of outer mitochondrial membrane 22 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:19,596,941...19,599,499
Ensembl chr22:37,414,704...37,417,229 		JBrowse link
G TRIOBP TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:18,662,794...18,693,138
Ensembl chr22:36,451,860...36,522,391 		JBrowse link
G TST thiosulfate sulfurtransferase ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr22:17,925,215...17,933,919
Ensembl chr22:35,761,073...35,768,992 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15804
    disease of anatomical entity 15482
      nervous system disease 13564
        neurodegenerative disease 4848
          neurodegeneration with brain iron accumulation 191
            neurodegeneration with brain iron accumulation 2A 51
Path 2
Term Annotations click to browse term
  disease 15804
    disease of anatomical entity 15482
      nervous system disease 13564
        central nervous system disease 12125
          brain disease 11399
            cerebral degeneration 681
              neuroaxonal dystrophy 216
                neurodegeneration with brain iron accumulation 191
                  neurodegeneration with brain iron accumulation 2A 51
paths to the root