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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:neuroaxonal dystrophy
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Accession:DOID:2367 term browser browse the term
Definition:A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)
Synonyms:exact_synonym: adult neuroaxonal dystrophy;   juvenile neuroaxonal dystrophy;   late infantile neuroaxonal dystrophy;   neuroaxonal dystrophies
 broad_synonym: PLA2G6-associated neurodegeneration;   PLA2G6-related NBIA
 primary_id: MESH:D019150
 alt_id: OMIA:000715
 xref: NCI:C161542
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
neuroaxonal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Borcs7 BLOC-1 related complex subunit 7 ISS MouseDO NCBI chr 1:255,505,745...255,519,579
Ensembl chr 1:255,505,745...255,518,815 		JBrowse link
G Ireb2 iron responsive element binding protein 2 ISO protein:increased expression:brain (mouse) RGD PMID:26506412 RGD:11344088 NCBI chr 8:64,124,152...64,207,702
Ensembl chr 8:64,154,945...64,205,520 		JBrowse link
G Mir103a2 microRNA 103a-2 ISO ClinVar Annotator: match by term: Neuroaxonal dystrophy, late infantile ClinVar PMID:11479594 PMID:12510040 PMID:15565311 PMID:15659606 PMID:16272150 More... NCBI chr 3:138,963,227...138,963,312
Ensembl chr 3:138,963,227...138,963,312 		JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO Schindler disease, OMIM:609241, DNA:point mutation:exon:E325K
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:2243144 PMID:2243144 RGD:1600557 NCBI chr 7:115,726,438...115,735,494
Ensembl chr 7:115,726,624...115,736,828 		JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Neuroaxonal dystrophy, late infantile ClinVar PMID:11479594 PMID:12510040 PMID:15565311 PMID:15659606 PMID:15834858 More... NCBI chr 3:138,936,448...138,974,196
Ensembl chr 3:138,936,452...138,974,194 		JBrowse link
G Pla2g6 phospholipase A2 group VI ISO DNA:insertion:intron (mouse)
DNA:deletion:cds:p.V691del (human)
DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
DNA:point mutation:cds 		RGD PMID:22442204 PMID:17033970 PMID:18305254 PMID:19138334 PMID:19893029 RGD:6482732, RGD:6482740, RGD:6482739, RGD:6482736, RGD:6482735 NCBI chr 7:112,731,803...112,771,978
Ensembl chr 7:112,731,803...112,771,609 		JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26555167 NCBI chr 6:135,720,765...135,823,187
Ensembl chr 6:135,720,656...135,823,187 		JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO DNA:deletion RGD PMID:11555633 RGD:1302546 NCBI chr14:41,838,859...41,849,743
Ensembl chr14:41,838,861...41,849,417 		JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO RGD PMID:11555633 RGD:1302546 NCBI chr15:84,888,847...84,942,095
Ensembl chr15:84,899,806...84,942,095
Ensembl chr 3:84,899,806...84,942,095 		JBrowse link
cerebral folate receptor alpha deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:28492532 NCBI chr 1:165,650,478...165,678,004
Ensembl chr 1:165,675,754...165,679,501 		JBrowse link
G Clpb ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:19732866 PMID:22586289 PMID:28492532 NCBI chr 1:165,440,705...165,563,514
Ensembl chr 1:165,440,861...165,583,815 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:28492532 NCBI chr 1:208,444,434...208,460,408
Ensembl chr 1:208,444,434...208,461,382 		JBrowse link
G Folr1 folate receptor alpha ISO ClinVar Annotator: match by term: NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY | ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18842806 PMID:19732866 More... NCBI chr 1:165,631,462...165,650,430
Ensembl chr 1:165,631,462...165,642,669 		JBrowse link
G Folr2 folate receptor beta ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:19732866 PMID:22586289 PMID:28492532 NCBI chr 1:165,612,047...165,630,382
Ensembl chr 1:165,612,063...165,617,731 		JBrowse link
G Il18bp interleukin 18 binding protein ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:28492532 NCBI chr 1:165,784,916...165,787,990
Ensembl chr 1:165,784,069...165,786,955 		JBrowse link
G Inppl1 inositol polyphosphate phosphatase-like 1 ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:19732866 PMID:22586289 PMID:28492532 NCBI chr 1:165,595,047...165,609,503
Ensembl chr 1:165,595,063...165,609,503 		JBrowse link
G Krtap5-8 keratin associated protein 5-8 ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:28492532 NCBI chr 1:206,875,612...206,876,304
Ensembl chr 1:206,875,612...206,876,304 		JBrowse link
G Lamtor1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:28492532 NCBI chr 1:165,684,001...165,689,698
Ensembl chr 1:165,684,091...165,703,178 		JBrowse link
G Lrtomt leucine rich transmembrane and O-methyltransferase domain containing ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:28492532 NCBI chr 1:165,678,654...165,680,703
Ensembl chr 1:165,678,654...165,680,703 		JBrowse link
G Nadsyn1 NAD synthetase 1 ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:28492532 NCBI chr 1:208,410,914...208,439,242
Ensembl chr 1:208,410,914...208,439,207 		JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:28492532 NCBI chr 1:165,709,893...165,784,848
Ensembl chr 1:165,709,905...165,784,848 		JBrowse link
G Phox2a paired-like homeobox 2a ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:19732866 PMID:22586289 PMID:28492532 NCBI chr 1:165,590,757...165,595,122
Ensembl chr 1:165,590,757...165,595,122 		JBrowse link
G Rnf121 ring finger protein 121 ISO ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency ClinVar PMID:28492532 NCBI chr 1:156,377,368...156,439,936
Ensembl chr 1:165,789,360...165,858,884 		JBrowse link
Karak Syndrome 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: Karak syndrome ClinVar PMID:16783378 PMID:19087156 PMID:20619503 PMID:20886109 PMID:25741868 More... NCBI chr 7:112,731,803...112,771,978
Ensembl chr 7:112,731,803...112,771,609 		JBrowse link
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 chr 9:22,981,880...22,993,536
Ensembl chr 9:22,794,978...22,993,536 		JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:16199547 PMID:16964263 PMID:17485642 PMID:20683840 PMID:21060012 More... NCBI chr 5:158,575,727...158,595,157
Ensembl chr 5:158,575,749...158,595,156 		JBrowse link
G C1h19orf12 similar to human chromosome 19 open reading frame 12 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:21981780 PMID:22584950 PMID:23166001 PMID:23269600 PMID:23278385 More... NCBI chr 1:100,010,280...100,023,907
Ensembl chr 1:100,010,323...100,023,903 		JBrowse link
G Coasy Coenzyme A synthase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:21264299 PMID:24360804 PMID:25741868 PMID:27021474 PMID:28357284 More... NCBI chr10:86,514,850...86,519,130
Ensembl chr10:86,514,874...86,519,130 		JBrowse link
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:12351628 PMID:15885371 PMID:16629161 PMID:18408989 PMID:18414213 More... NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:104,368,456...104,427,087 		JBrowse link
G Crat carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:25741868 PMID:28492532 PMID:29395073 PMID:34085946 NCBI chr 3:34,073,504...34,087,099
Ensembl chr 3:34,073,506...34,087,099 		JBrowse link
G Dcaf17 DDB1 and CUL4 associated factor 17 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar NCBI chr 3:76,271,503...76,303,321
Ensembl chr 3:76,271,519...76,303,320 		JBrowse link
G Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:20853438 PMID:25741868 PMID:27217339 PMID:27316240 PMID:28492532 More... NCBI chr19:56,222,240...56,273,480
Ensembl chr19:56,222,242...56,273,623 		JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar NCBI chr 2:104,413,618...104,455,091
Ensembl chr 2:104,413,417...104,455,091 		JBrowse link
G Pank2 pantothenate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20629144 NCBI chr 3:138,936,448...138,974,196
Ensembl chr 3:138,936,452...138,974,194 		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:2668131 PMID:2939507 PMID:16199547 PMID:16783378 PMID:17033970 More... NCBI chr 7:112,731,803...112,771,978
Ensembl chr 7:112,731,803...112,771,609 		JBrowse link
G Reps1 RALBP1 associated Eps domain containing 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:28492532 PMID:29395073 NCBI chr 1:14,517,589...14,595,404
Ensembl chr 1:14,517,589...14,595,404 		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:16199547 PMID:23176820 PMID:23435086 PMID:24368176 PMID:24621584 More... NCBI chr  X:17,448,195...17,454,117
Ensembl chr  X:17,448,207...17,454,117 		JBrowse link
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 chr 7:112,495,396...112,508,186
Ensembl chr 7:112,495,462...112,508,128 		JBrowse link
G Baiap2l2 BAR/IMD domain containing adaptor protein 2 like 2 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,704,798...112,731,691
Ensembl chr 7:112,704,682...112,731,127 		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 chr 7:111,958,348...111,964,948
Ensembl chr 7:111,958,350...111,966,871 		JBrowse link
G C7h22orf23 similar to human chromosome 22 open reading frame 23 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:110,704,894...110,712,485
Ensembl chr 7:112,584,818...112,593,109 		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 chr 7:112,210,944...112,252,044
Ensembl chr 7:112,210,776...112,239,806 		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 chr 7:113,097,220...113,103,831 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 chr 7:112,275,759...112,283,665
Ensembl chr 7:112,275,792...112,283,664 		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 chr 7:109,928,165...109,944,994
Ensembl chr 7:111,808,670...111,825,412 		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 chr 7:111,756,950...111,782,089
Ensembl chr 7:111,757,405...111,784,654 		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 chr 7:112,863,726...112,887,338
Ensembl chr 7:112,863,731...112,884,101 		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 chr 7:112,032,711...112,057,204
Ensembl chr 7:112,032,775...112,057,204 		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 chr 7:112,971,522...112,989,747
Ensembl chr 7:112,971,523...112,989,747 		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 chr 7:113,005,278...113,047,854
Ensembl chr 7:113,005,281...113,047,854 		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 chr 8:28,618,523...28,670,741
Ensembl chr 8:28,618,523...28,670,648 		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 chr 7:112,522,222...112,544,063
Ensembl chr 7:112,507,831...112,544,062 		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 chr 7:112,101,998...112,153,280
Ensembl chr 7:112,074,331...112,153,451 		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 chr 7:113,054,751...113,096,898
Ensembl chr 7:113,054,751...113,096,868 		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 chr 7:112,483,183...112,496,359
Ensembl chr 7:112,485,672...112,488,136 		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 chr 7:112,475,572...112,481,920
Ensembl chr 7:112,475,496...112,482,664 		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 chr 7:112,316,530...112,332,249
Ensembl chr 7:112,315,449...112,332,249 		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 chr 7:113,128,645...113,153,094
Ensembl chr 7:113,128,670...113,154,621 		JBrowse link
G H1f0 H1.0 linker histone ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,473,280...112,475,140
Ensembl chr 7:112,473,222...112,475,006 		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 chr 7:111,619,145...111,635,129
Ensembl chr 7:111,619,077...111,634,936 		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 chr 7:111,913,828...111,928,537
Ensembl chr 7:111,913,828...111,928,537 		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 chr 7:113,110,709...113,124,632
Ensembl chr 7:113,110,717...113,124,632 		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 chr 7:112,927,494...112,954,547
Ensembl chr 7:112,922,532...112,954,826 		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 chr 7:111,859,556...111,891,869
Ensembl chr 7:111,859,256...111,870,692 		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 chr 7:112,959,632...112,969,858
Ensembl chr 7:112,959,718...112,969,858 		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 chr 7:112,365,695...112,368,801
Ensembl chr 7:112,361,850...112,368,800 		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 chr 7:112,283,630...112,290,228
Ensembl chr 7:112,282,822...112,285,392 		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 chr 7:112,792,787...112,804,139
Ensembl chr 7:112,791,416...112,804,147 		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 chr 7:112,191,288...112,209,129
Ensembl chr 7:112,161,071...112,209,129 		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 chr 7:112,557,192...112,587,618
Ensembl chr 7:112,557,192...112,587,618 		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 chr 7:111,836,079...111,843,651
Ensembl chr 7:111,835,587...111,843,650 		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 chr 7:111,705,926...111,723,893
Ensembl chr 7:111,706,520...111,723,898 		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 chr 7:112,373,749...112,379,362
Ensembl chr 7:112,373,845...112,380,357 		JBrowse link
G Pdxp pyridoxal phosphatase ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,352,971...112,358,419
Ensembl chr 7:112,352,726...112,358,419 		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 NCBI chr 7:112,676,890...112,697,275
Ensembl chr 7:112,677,322...112,697,257 		JBrowse link
G Pla2g6 phospholipase A2 group VI ISO
ISS 		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:256600
DNA:deletions, missense mutations, nonsense mutation: exon:multiple 		OMIM
ClinVar
MouseDO
RGD		 PMID:2668131 PMID:2939507 PMID:9536098 PMID:16199547 PMID:16783378 More... RGD:12910703 NCBI chr 7:112,731,803...112,771,978
Ensembl chr 7:112,731,803...112,771,609 		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 chr 7:112,592,977...112,604,681
Ensembl chr 7:112,593,027...112,604,666 		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 chr 7:111,653,820...111,668,469
Ensembl chr 7:111,653,111...111,668,446 		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 chr 7:111,981,825...112,009,201
Ensembl chr 7:111,996,742...112,009,267 		JBrowse link
G Sh3bp1 SH3-domain binding protein 1 ISO ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr 7:112,338,087...112,350,659
Ensembl chr 7:112,338,107...112,350,659 		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 chr 7:112,698,701...112,702,496
Ensembl chr 7:112,698,701...112,702,496 		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 chr 7:112,605,721...112,615,097
Ensembl chr 7:112,605,721...112,615,990 		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 chr 7:111,973,049...111,980,250
Ensembl chr 7:111,972,811...111,997,368 		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 chr 7:113,155,766...113,172,950
Ensembl chr 7:113,155,766...113,172,940 		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 chr 7:112,805,512...112,848,398
Ensembl chr 7:112,805,512...112,848,351 		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 chr 7:111,871,504...111,902,127
Ensembl chr 7:111,871,031...111,902,116 		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 chr 7:113,103,863...113,109,056
Ensembl chr 7:113,103,860...113,109,053 		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 chr 7:112,386,371...112,452,130
Ensembl chr 7:112,386,420...112,442,924 		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 chr 7:111,828,557...111,836,980
Ensembl chr 7:111,828,558...111,837,116 		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, PLA2G6-RELATED | 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 		OMIM
ClinVar
CTD		 PMID:2668131 PMID:16199547 PMID:16783378 PMID:17033970 PMID:18359254 More... NCBI chr 7:112,731,803...112,771,978
Ensembl chr 7:112,731,803...112,771,609 		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 chain 1 ISO DNA:insertion:exon:460_461insA(human)
ClinVar Annotator: match by term: BASAL GANGLIA DISEASE, ADULT-ONSET | 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:9226182 PMID:9414300 PMID:11438811 PMID:12200611 PMID:12746423 More... RGD:5509859, RGD:5509861, RGD:5509860 NCBI chr 1:105,072,858...105,074,705
Ensembl chr  X:45,399,355...45,399,915
Ensembl chr 2:45,399,355...45,399,915
Ensembl chr 1:45,399,355...45,399,915 		JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Neuroferritinopathy ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:105,051,916...105,071,763
Ensembl chr 1:105,051,961...105,072,419 		JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: Neuroferritinopathy ClinVar PMID:29091079 PMID:31345363 PMID:38876456 NCBI chr  X:101,572,338...101,625,571
Ensembl chr  X:101,572,340...101,595,520 		JBrowse link
neurodegeneration with brain iron accumulation 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1h19orf12 similar to human chromosome 19 open reading frame 12 ISO ClinVar Annotator: match by term: C19orf12-related condition | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:20039086 PMID:21981780 More... NCBI chr 1:100,010,280...100,023,907
Ensembl chr 1:100,010,323...100,023,903 		JBrowse link
neurodegeneration with brain iron accumulation 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:18,107,256...18,117,549
Ensembl chr  X:18,107,275...18,117,549 		JBrowse link
G Araf A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:3,780,932...3,845,919
Ensembl chr  X:3,780,932...3,792,611 		JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:18,840,943...18,846,006
Ensembl chr  X:18,840,829...18,847,438 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:17,539,920...17,568,308 		JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,437,219...17,443,716
Ensembl chr  X:17,425,624...17,444,717 		JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,570,184...17,582,130
Ensembl chr  X:17,535,659...17,582,130 		JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:18,149,915...18,214,801
Ensembl chr  X:18,149,915...18,214,801 		JBrowse link
G Cdk16 cyclin-dependent kinase 16 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:4,046,330...4,057,825
Ensembl chr  X:4,026,866...4,057,380 		JBrowse link
G Cfp complement factor properdin ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:3,715,551...3,721,113
Ensembl chr  X:3,710,425...3,721,112 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,857,260...18,011,844
Ensembl chr  X:17,857,260...18,011,844 		JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:18,253,849...18,385,805
Ensembl chr  X:18,256,463...18,385,640 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:16,971,372...16,977,782
Ensembl chr  X:16,971,405...16,977,781 		JBrowse link
G Elk1 ETS transcription factor ELK1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:3,692,367...3,709,252
Ensembl chr  X:3,693,293...3,709,249 		JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,245,915...17,250,301
Ensembl chr  X:17,245,789...17,250,293 		JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,580,380...17,601,181
Ensembl chr  X:17,580,380...17,595,894 		JBrowse link
G Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:16,915,087...16,929,426
Ensembl chr  X:16,916,033...16,923,999 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:17,201,633...17,209,459 		JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,145,936...17,160,733
Ensembl chr  X:17,145,938...17,160,619 		JBrowse link
G Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,463,521...17,478,298
Ensembl chr  X:17,463,525...17,478,298 		JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,350,817...17,380,626
Ensembl chr  X:17,350,819...17,380,588 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,222,538...17,244,373
Ensembl chr  X:17,222,856...17,244,370 		JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,333,612...17,349,255
Ensembl chr  X:17,333,612...17,347,799 		JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,496,092...17,504,370
Ensembl chr  X:17,496,225...17,504,369 		JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,930,647...17,930,726
Ensembl chr  X:17,930,637...17,930,728 		JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,919,185...17,919,263
Ensembl chr  X:17,919,185...17,919,263 		JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:4,126,317...4,128,575
Ensembl chr  X:4,126,245...4,128,566 		JBrowse link
G Nudt11 nudix hydrolase 11 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:18,998,587...19,005,208
Ensembl chr  X:18,998,461...19,005,208 		JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar PMID:28492532 NCBI chr  X:17,296,750...17,331,257
Ensembl chr  X:17,298,029...17,331,054 		JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,251,963...17,255,405
Ensembl chr  X:17,251,965...17,257,360 		JBrowse link
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,289,509...17,294,778
Ensembl chr  X:17,289,509...17,294,778 		JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,506,153...17,509,552
Ensembl chr  X:17,506,059...17,509,550 		JBrowse link
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:16,957,811...16,970,440
Ensembl chr  X:16,957,810...16,970,439 		JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,581,467...17,617,087
Ensembl chr  X:17,601,239...17,617,102 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,275,445...17,280,018
Ensembl chr  X:17,275,759...17,280,016 		JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,445,313...17,447,950
Ensembl chr  X:17,445,313...17,447,950 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,509,551...17,520,157
Ensembl chr  X:17,509,554...17,520,122 		JBrowse link
G Rbm10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:4,093,914...4,126,060
Ensembl chr  X:4,093,914...4,126,060 		JBrowse link
G Rbm3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,020,863...17,024,341
Ensembl chr  X:17,020,864...17,024,841 		JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:18,537,371...18,748,665
Ensembl chr  X:18,540,913...18,748,700 		JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,280,072...17,288,928
Ensembl chr  X:17,280,074...17,288,613 		JBrowse link
G Slc38a5 solute carrier family 38, member 5 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:16,885,701...16,894,470
Ensembl chr  X:16,885,701...16,894,470 		JBrowse link
G Spaca5 sperm acrosome associated 5 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:3,472,369...3,475,552
Ensembl chr  X:3,472,369...3,475,822 		JBrowse link
G Ssx1 SSX family member 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:16,603,888...16,612,203
Ensembl chr  X:16,604,449...16,612,210 		JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,093,059...17,105,942
Ensembl chr  X:17,092,986...17,105,942 		JBrowse link
G Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:146,828,818...146,831,485 JBrowse link
G Syn1 synapsin I ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:3,725,745...3,780,940
Ensembl chr  X:3,725,714...3,780,938 		JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,521,348...17,536,449
Ensembl chr  X:17,521,348...17,536,984 		JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:16,986,629...17,010,228
Ensembl chr  X:16,986,269...17,010,230 		JBrowse link
G Tfe3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,401,466...17,414,829
Ensembl chr  X:17,401,466...17,414,685 		JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17b ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,268,257...17,275,424
Ensembl chr  X:17,268,257...17,275,563 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:3,766,509...3,772,578
Ensembl chr  X:3,766,510...3,771,135 		JBrowse link
G Uba1 ubiquitin-like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:4,062,216...4,084,192
Ensembl chr  X:4,062,182...4,084,246 		JBrowse link
G Usp11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:4,026,865...4,043,036 JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,795,506...17,798,741
Ensembl chr  X:17,794,884...17,798,879 		JBrowse link
G Uxt ubiquitously-expressed, prefoldin-like chaperone ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:3,679,630...3,691,944
Ensembl chr  X:3,679,687...3,695,442 		JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,077,057...17,085,802
Ensembl chr  X:17,073,314...17,085,802 		JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:17,034,779...17,045,682
Ensembl chr  X:17,034,504...17,045,679 		JBrowse link
G Wdr45 WD repeat domain 45 ISO
ISS 		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 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22892189 PMID:23176820 More... NCBI chr  X:17,448,195...17,454,117
Ensembl chr  X:17,448,207...17,454,117 		JBrowse link
G Zfp157 zinc finger protein 157 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr12:21,356,253...21,393,006
Ensembl chr12:21,362,004...21,384,470 		JBrowse link
G Zfp182 zinc finger protein 182 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:3,480,991...3,555,009
Ensembl chr  X:3,472,127...3,555,013 		JBrowse link
G Znf81 zinc finger protein 81 ISO ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration ClinVar PMID:28492532 NCBI chr  X:3,581,501...3,679,905
Ensembl chr  X:3,589,044...3,679,333 		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
ISS 		ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6
OMIM:615643 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21264299 PMID:24360804 More... NCBI chr10:86,514,850...86,519,130
Ensembl chr10:86,514,874...86,519,130 		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 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 7 | ClinVar Annotator: match by term: REPS1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29395073 NCBI chr 1:14,517,589...14,595,404
Ensembl chr 1:14,517,589...14,595,404 		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 O-acetyltransferase ISO ClinVar Annotator: match by term: CRAT-related condition | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 8 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29395073 PMID:31448845 PMID:34085946 NCBI chr 3:34,073,504...34,087,099
Ensembl chr 3:34,073,506...34,087,099 		JBrowse link
Neurodegeneration with Brain Iron Accumulation 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: FTH1-related condition | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 9 ClinVar PMID:14615048 PMID:28492532 PMID:37660254 NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:216,054,395...216,070,974 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: FTH1-related condition | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 9 OMIM
ClinVar		 PMID:14615048 PMID:28492532 PMID:37265023 PMID:37660254 NCBI chr 1:216,052,037...216,054,325
Ensembl chr 1:216,051,998...216,055,214 		JBrowse link
pantothenate kinase-associated neurodegeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam33 ADAM metallopeptidase domain 33 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,715,428...138,736,392
Ensembl chr 3:138,724,046...138,736,347 		JBrowse link
G Adissp adipose secreted signaling protein ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,817,752...138,832,208
Ensembl chr 3:138,813,179...138,831,847 		JBrowse link
G Adra1d adrenoceptor alpha 1D ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:139,246,333...139,262,331
Ensembl chr 3:139,246,323...139,262,331 		JBrowse link
G Ap5s1 adaptor related protein complex 5 subunit sigma 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,429,618...118,432,929
Ensembl chr 3:138,882,634...138,888,899 		JBrowse link
G Atrn attractin ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,563,271...138,697,360
Ensembl chr 3:138,563,312...138,697,360 		JBrowse link
G Avp arginine vasopressin ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,246,544...138,248,522
Ensembl chr 3:138,246,554...138,248,522 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:141,264,646...141,274,760 		JBrowse link
G Cdc25b cell division cycle 25B ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,860,148...138,870,287
Ensembl chr 3:138,860,130...138,870,492 		JBrowse link
G Cds2 CDP-diacylglycerol synthase 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:139,967,870...140,006,459
Ensembl chr 3:139,967,742...140,009,201 		JBrowse link
G Cenpb centromere protein B ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,850,003...138,852,796
Ensembl chr 3:138,841,679...138,854,372 		JBrowse link
G Chgb chromogranin B ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:140,496,712...140,510,057
Ensembl chr 3:140,495,951...140,510,054 		JBrowse link
G Cpxm1 carboxypeptidase X (M14 family), member 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,041,645...138,048,443
Ensembl chr 3:138,041,645...138,048,857 		JBrowse link
G Crls1 cardiolipin synthase 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:140,572,680...140,591,543
Ensembl chr 3:140,572,716...140,591,599 		JBrowse link
G Ddrgk1 DDRGK domain containing 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,315,006...138,336,691
Ensembl chr 3:138,315,282...138,335,766 		JBrowse link
G Dnaaf9 dynein axonemal assembly factor 9 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,918,047...118,052,641
Ensembl chr 3:138,372,531...138,505,695 		JBrowse link
G Ebf4 EBF family member 4 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:137,951,310...138,019,682
Ensembl chr 3:137,951,335...138,019,665 		JBrowse link
G Fastkd5 FAST kinase domains 5 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,830,219...117,847,707
Ensembl chr 3:138,272,928...138,301,291 		JBrowse link
G Fermt1 FERM domain containing kindlin 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:140,624,434...140,666,419
Ensembl chr 3:140,624,434...140,666,419 		JBrowse link
G Gfra4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,707,970...138,715,279
Ensembl chr 3:138,703,114...138,711,561 		JBrowse link
G Gpcpd1 glycerophosphocholine phosphodiesterase 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:119,787,681...119,832,550
Ensembl chr 3:140,240,575...140,285,372 		JBrowse link
G Hspa12b heat shock protein family A (Hsp70) member 12B ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,799,396...138,817,396
Ensembl chr 3:138,799,398...138,818,935 		JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:137,934,971...137,940,275
Ensembl chr 3:137,934,697...137,940,107 		JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,338,549...138,350,329
Ensembl chr 3:138,338,349...138,350,329 		JBrowse link
G Lrrn4 leucine rich repeat neuronal 4 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:140,592,303...140,603,986
Ensembl chr 3:140,592,076...140,605,574 		JBrowse link
G Lzts3 leucine zipper tumor suppressor family member 3 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,303,378...138,313,645
Ensembl chr 3:138,303,378...138,313,611 		JBrowse link
G Mavs mitochondrial antiviral signaling protein ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:138,904,673...138,919,129
Ensembl chr 3:138,904,771...138,919,126 		JBrowse link
G Mcm8 minichromosome maintenance 8 homologous recombination repair factor ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:140,539,590...140,569,891
Ensembl chr 3:140,539,647...140,569,891 		JBrowse link
G Mir103a2 microRNA 103a-2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:11479594 PMID:12510040 PMID:15565311 PMID:15659606 PMID:16272150 More... NCBI chr 3:138,963,227...138,963,312
Ensembl chr 3:138,963,227...138,963,312 		JBrowse link
G Mrps26 mitochondrial ribosomal protein S26 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,222,324...138,223,987
Ensembl chr 3:138,222,165...138,223,987 		JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:137,926,187...137,934,971
Ensembl chr 3:137,929,646...137,934,959 		JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,235,754...138,236,594
Ensembl chr 3:138,235,754...138,236,594 		JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | ClinVar Annotator: match by term: Pantothenate kinase-associated neurodegeneration | ClinVar Annotator: match by term: Pigmentary pallidal degeneration
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1301187 PMID:1734303 PMID:3043782 PMID:7898702 PMID:9536098 More... NCBI chr 3:138,936,448...138,974,196
Ensembl chr 3:138,936,452...138,974,194 		JBrowse link
G Pced1a PC-esterase domain containing 1A ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,049,747...138,076,107
Ensembl chr 3:138,067,891...138,075,146 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:139,951,941...139,955,901 		JBrowse link
G Pdyn prodynorphin ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:137,354,161...137,366,503
Ensembl chr 3:137,354,161...137,366,503 		JBrowse link
G Prnd prion like protein doppel ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:139,666,383...139,671,647
Ensembl chr 3:139,666,068...139,671,890 		JBrowse link
G Prnp prion protein ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:139,630,144...139,658,436 		JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:140,077,629...140,092,327
Ensembl chr 3:140,077,630...140,092,093 		JBrowse link
G Ptpra protein tyrosine phosphatase, receptor type, A ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,103,261...138,212,835
Ensembl chr 3:138,098,110...138,213,126 		JBrowse link
G Rassf2 Ras association domain family member 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:139,697,187...139,733,402
Ensembl chr 3:139,697,187...139,733,368 		JBrowse link
G Rnf24 ring finger protein 24 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,973,492...138,987,354
Ensembl chr 3:138,973,492...139,028,177 		JBrowse link
G Shld1 shieldin complex subunit 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:119,938,695...120,011,068
Ensembl chr 3:140,389,220...140,462,609 		JBrowse link
G Siglec1 sialic acid binding Ig like lectin 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,740,171...138,759,966
Ensembl chr 3:138,741,019...138,759,881 		JBrowse link
G Slc23a2 solute carrier family 23 member 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:139,755,583...139,913,304
Ensembl chr 3:139,755,584...139,847,343 		JBrowse link
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,353,305...138,365,983
Ensembl chr 3:138,353,305...138,365,754 		JBrowse link
G Smox spermine oxidase ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:139,184,793...139,220,174
Ensembl chr 3:139,184,798...139,220,170
Ensembl chr  X:139,184,798...139,220,170 		JBrowse link
G Snca synuclein alpha ISO RGD PMID:10934140 RGD:6480098 NCBI chr 4:91,026,474...91,127,444
Ensembl chr 4:91,026,474...91,126,315 		JBrowse link
G Sncb synuclein, beta ISO RGD PMID:10934140 RGD:6480098 NCBI chr17:9,851,825...9,860,143
Ensembl chr17:9,840,019...9,860,142 		JBrowse link
G Sncg synuclein, gamma ISO RGD PMID:10934140 RGD:6480098 NCBI chr16:9,706,765...9,712,072
Ensembl chr16:9,706,753...9,712,076 		JBrowse link
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:137,824,870...137,832,479
Ensembl chr 3:137,824,683...137,832,515 		JBrowse link
G Spef1 sperm flagellar 1 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:118,390,659...118,396,842 JBrowse link
G Stk35 serine/threonine kinase 35 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:137,465,884...137,498,554
Ensembl chr 3:137,470,110...137,498,940 		JBrowse link
G Tgm3 transglutaminase 3 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:137,681,809...137,717,219
Ensembl chr 3:137,681,809...137,717,219 		JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:137,771,368...137,809,000
Ensembl chr 3:137,774,630...137,807,873 		JBrowse link
G Tmc2 transmembrane channel-like 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:137,849,513...137,917,462
Ensembl chr 3:137,849,513...137,917,462 		JBrowse link
G Tmem230 transmembrane protein 230 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:139,925,878...139,950,517 JBrowse link
G Tmem239 transmembrane 239 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,604,765...117,605,978
Ensembl chr 3:138,053,765...138,063,665 		JBrowse link
G Trmt6 tRNA methyltransferase 6 non-catalytic subunit ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:140,527,785...140,539,520
Ensembl chr 3:140,527,788...140,539,509 		JBrowse link
G Ubox5 U-box domain containing 5 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:117,806,212...117,847,711
Ensembl chr 3:138,259,311...138,300,807 		JBrowse link
G Vps16 VPS16 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:28492532 NCBI chr 3:138,075,649...138,097,154
Ensembl chr 3:138,075,660...138,110,632 		JBrowse link
Schindler disease type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1 | ClinVar Annotator: match by term: Neuroaxonal dystrophy, Schindler type
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1131374 PMID:1313741 PMID:2243144 PMID:2372288 PMID:2889023 More... NCBI chr 7:115,726,438...115,735,494
Ensembl chr 7:115,726,624...115,736,828 		JBrowse link
G Wbp2nl WBP2 N-terminal like ISO ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1 ClinVar PMID:25741868 NCBI chr 7:115,694,910...115,710,912
Ensembl chr 7:115,694,922...115,710,689 		JBrowse link
TANGO2-related metabolic encephalopathy and arrythmias term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: TANGO2 Deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr17:15,449,011...15,511,423
Ensembl chr17:15,435,894...15,511,305 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: TANGO2 Deficiency | ClinVar Annotator: match by term: TANGO2-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 More... NCBI chr11:96,150,292...96,196,883
Ensembl chr11:96,150,266...96,196,881 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            cerebral degeneration 681
              neuroaxonal dystrophy 211
                CSF1R-related brain malformation and osteopetrosis 0
                Hunter-Carpenter-Macdonald Syndrome 0
                Karak Syndrome 1
                Maccario Mena Weir Syndrome 0
                Osteopetrosis and Infantile Neuroaxonal Dystrophy 0
                Schindler disease type 1 2
                TANGO2-related metabolic encephalopathy and arrythmias 2
                cerebral folate receptor alpha deficiency 14
                neurodegeneration with brain iron accumulation + 188
paths to the root