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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.


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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 1:266,451,021...266,464,903
Ensembl chr 1:266,451,021...266,464,903
JBrowse link
G Ireb2 iron responsive element binding protein 2 ISO protein:increased expression:brain (mouse) RGD PMID:26506412 RGD:11344088 NCBI chr 8:59,450,974...59,503,634
Ensembl chr 8:59,420,123...59,501,118
JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO Schindler disease, OMIM:609241, DNA:point mutation:exon:E325K
CTD Direct Evidence: marker/mechanism
CTD PMID:2243144, PMID:2243144 RGD:1600557 NCBI chr 7:123,563,047...123,572,074
Ensembl chr 7:123,563,059...123,572,082
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 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26555167 NCBI chr 6:135,304,536...135,405,865
Ensembl chr 6:135,313,008...135,402,814
JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO DNA:deletion RGD PMID:11555633 RGD:1302546 NCBI chr14:43,133,224...43,143,942
Ensembl chr14:43,133,218...43,143,973
JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO RGD PMID:11555633 RGD:1302546 NCBI chr15:86,153,624...86,198,127
Ensembl chr15:86,153,628...86,198,127
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: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:166,981,738...166,985,363
Ensembl chr 1:166,983,175...166,985,054
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904
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: Cerebral folate deficiency
ClinVar Annotator: match by OMIM:613068
OMIM
ClinVar
PMID:18842806, PMID:19732866, PMID:20018644, PMID:20683905, PMID:21752681, PMID:21937992, PMID:22586289, PMID:22695967, PMID:24556562, PMID:25741868, PMID:26467025, PMID:27535533, PMID:27781028, PMID:27884173, PMID:28054128, PMID:28492532, PMID:29661558 NCBI chr 1:166,934,457...166,945,864
Ensembl chr 1:166,934,460...166,943,592
JBrowse link
G Il18bp interleukin 18 binding protein ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:167,091,521...167,095,727
Ensembl chr 1:167,091,522...167,093,560
JBrowse link
G Lamtor1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:166,991,474...166,997,045
Ensembl chr 1:166,991,474...166,997,045
JBrowse link
G LOC685544 hypothetical protein LOC685544 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:215,460,226...215,460,918
Ensembl chr 1:215,460,226...215,460,918
JBrowse link
G Lrtomt leucine rich transmembrane and O-methyltransferase domain containing ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:166,985,468...166,989,681
Ensembl chr 1:166,986,013...166,988,062
JBrowse link
G Nadsyn1 NAD synthetase 1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:216,985,710...217,013,743
Ensembl chr 1:216,985,714...217,013,702
JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:167,044,544...167,091,453
Ensembl chr 1:167,051,209...167,091,453
JBrowse link
G Rnf121 ring finger protein 121 ISO ClinVar Annotator: match by term: Cerebral folate deficiency ClinVar PMID:28492532 NCBI chr 1:167,095,916...167,165,257
Ensembl chr 1:167,095,962...167,165,265
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, PMID:14638969, PMID:15565311, PMID:15659606, PMID:15834858, PMID:16272150, PMID:16437574, PMID:16450344, PMID:22221393, PMID:22416811, PMID:23968566, PMID:24075960, PMID:24215330, PMID:24348190, PMID:25741868, PMID:25802776, PMID:26087139, PMID:26795593, PMID:27185474, PMID:28492532, PMID:28708303, PMID:28781879, PMID:29590070, PMID:30311386, PMID:32581362 NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797
JBrowse link
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 null ClinVar PMID:16783378 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
JBrowse link
neurodegeneration with brain iron accumulation 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 9:17,869,301...17,881,762
Ensembl chr 9:17,869,124...17,880,706
JBrowse link
G Crat carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:25741868, PMID:29395073 NCBI chr 3:8,967,984...8,981,959
Ensembl chr 3:8,968,417...8,981,362
JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 1, atypical
ClinVar Annotator: match by term: Iron accumulation in brain
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11479594, PMID:12510040, PMID:15565311, PMID:15659606, PMID:15834858, PMID:16272150, PMID:16437574, PMID:16450344, PMID:20629144, PMID:22221393, PMID:22416811, PMID:23968566, PMID:24075960, PMID:24215330, PMID:24348190, PMID:25741868, PMID:25802776, PMID:26087139, PMID:26795593, PMID:27185474, PMID:28492532, PMID:28708303, PMID:28781879, PMID:29590070, PMID:30311386 NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797
JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Iron accumulation in brain
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar PMID:10227637, PMID:12843330, PMID:16783378, PMID:17033970, PMID:18359254, PMID:18414213, PMID:18443314, PMID:18570303, PMID:18799783, PMID:19138334, PMID:19893029, PMID:20301718, PMID:20584031, PMID:20619503, PMID:20886109, PMID:20938027, PMID:20947703, PMID:22934738, PMID:24033266, PMID:24108619, PMID:24130795, PMID:24745848, PMID:24800972, PMID:24847269, PMID:25164370, PMID:25326635, PMID:25326637, PMID:25558065, PMID:25741868, PMID:26668131, PMID:27196560, PMID:27378808, PMID:28492532, PMID:29472584, PMID:29915382, PMID:30340910, PMID:30619057 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
JBrowse link
G Reps1 RALBP1 associated Eps domain containing 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:29395073 NCBI chr 1:13,262,049...13,298,347
Ensembl chr 1:13,212,324...13,298,347
JBrowse link
G Wdr45 WD repeat domain 45 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
CTD
ClinVar
PMID:23176820, PMID:23435086, PMID:24368176, PMID:24621584, PMID:25741868, PMID:25744623, PMID:28492532, PMID:28711740 NCBI chr  X:15,621,249...15,627,159
Ensembl chr  X:15,621,209...15,627,235
JBrowse link
neurodegeneration with brain iron accumulation 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: PLA2G6-associated neurodegeneration
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
DNA:deletions, missense mutations, nonsense mutation: exon:multiple
OMIM
ClinVar
PMID:10227637, PMID:12843330, PMID:16783378, PMID:17033970, PMID:18359254, PMID:18414213, PMID:18443314, PMID:18570303, PMID:18799783, PMID:18981035, PMID:19138334, PMID:19893029, PMID:20186954, PMID:20584031, PMID:20619503, PMID:20669327, PMID:20886109, PMID:20938027, PMID:20947703, PMID:21368765, PMID:21700586, PMID:21812034, PMID:22213678, PMID:22934738, PMID:23182313, PMID:24033266, PMID:24088041, PMID:24108619, PMID:24130795, PMID:24745848, PMID:24800972, PMID:24847269, PMID:25164370, PMID:25174650, PMID:25326635, PMID:25326637, PMID:25660576, PMID:25741868, PMID:26196026, PMID:26467025, PMID:26539891, PMID:26633545, PMID:26668131, PMID:27127721, PMID:27196560, PMID:27268037, PMID:27294386, PMID:27378808, PMID:27709683, PMID:27942883, PMID:28295203, PMID:28492532, PMID:28821231, PMID:29124790, PMID:29915382, PMID:30042723, PMID:30065071, PMID:30232368, PMID:30302010, PMID:30340910, PMID:32860008, PMID:22934738 RGD:12910703 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
JBrowse link
neurodegeneration with brain iron accumulation 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2b
ClinVar Annotator: match by OMIM:610217
OMIM
ClinVar
PMID:10227637, PMID:12843330, PMID:16783378, PMID:17033970, PMID:18414213, PMID:18443314, PMID:18570303, PMID:18799783, PMID:18981035, PMID:20301718, PMID:20619503, PMID:20669327, PMID:20886109, PMID:20938027, PMID:24088041, PMID:24130795, PMID:24745848, PMID:24800972, PMID:24847269, PMID:25741868, PMID:26196026, PMID:26633545, PMID:26668131, PMID:27268037, PMID:28492532, PMID:29472584, PMID:29915382, PMID:30619057, PMID:32581362, PMID:32860008 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
JBrowse link
neurodegeneration with brain iron accumulation 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftl1 ferritin light chain 1 ISO DNA:insertion:exon:460_461insA(human)
ClinVar Annotator: match by term: Neuroferritinopathy
ClinVar Annotator: match by OMIM:606159
DNA:mutations:exon:
DNA:duplication:cds:458dupA(human)
ClinVar
OMIM
PMID:11438811, PMID:12746423, PMID:16116125, PMID:17182944, PMID:18413574, PMID:18414213, PMID:18854324, PMID:25741868, PMID:28492532, PMID:17142829, PMID:19117339, PMID:18854324 RGD:5509859, RGD:5509861, RGD:5509860 NCBI chr 1:101,448,190...101,450,034
Ensembl chr 1:101,448,346...101,449,829
JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Neuroferritinopathy ClinVar PMID:17182944, PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 1:101,427,195...101,447,092
Ensembl chr 1:101,427,195...101,447,092
JBrowse link
neurodegeneration with brain iron accumulation 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC690000 similar to CG3740-PA ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4
ClinVar Annotator: match by term: MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION
ClinVar Annotator: match by OMIM:614298
OMIM
ClinVar
PMID:18414213, PMID:20039086, PMID:21981780, PMID:22508347, PMID:22584950, PMID:23166001, PMID:23269600, PMID:23278385, PMID:23436634, PMID:23494994, PMID:23857908, PMID:24033266, PMID:24209434, PMID:25592411, PMID:25741868, PMID:26187298, PMID:26539891, PMID:27112773, PMID:28347615, PMID:28492532, PMID:28641177, PMID:29295770, PMID:30088953, PMID:30392167, PMID:31087512, PMID:32581362 NCBI chr 1:94,572,714...94,587,842
Ensembl chr 1:94,579,080...94,587,219
JBrowse link
neurodegeneration with brain iron accumulation 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar NCBI chr  X:15,471,212...15,504,372
Ensembl chr  X:15,471,211...15,504,165
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar Annotator: match by term: Beta-Propeller protein-associated Neurodegeneration
ClinVar Annotator: match by OMIM:300894
OMIM
ClinVar
PMID:20562859, PMID:22892189, PMID:23176820, PMID:23435086, PMID:23687123, PMID:24368176, PMID:24621584, PMID:24847269, PMID:24896178, PMID:25263061, PMID:25326635, PMID:25356899, PMID:25592411, PMID:25741868, PMID:25741887, PMID:25744623, PMID:26173968, PMID:26467025, PMID:26609730, PMID:26633542, PMID:26790960, PMID:27030146, PMID:27159028, PMID:27652284, PMID:28191889, PMID:28492532, PMID:28554332, PMID:28711740, PMID:28932395, PMID:29082105, PMID:29171013, PMID:29981852, PMID:30311386, PMID:30612247, PMID:30713893 NCBI chr  X:15,621,249...15,627,159
Ensembl chr  X:15,621,209...15,627,235
JBrowse link
neurodegeneration with brain iron accumulation 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coasy Coenzyme A synthase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6
ClinVar Annotator: match by OMIM:615643
OMIM
ClinVar
PMID:24360804, PMID:25741868, PMID:28489334, PMID:28492532 NCBI chr10:88,992,413...88,996,677
Ensembl chr10:88,992,487...88,996,676
JBrowse link
Neurodegeneration with Brain Iron Accumulation 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reps1 RALBP1 associated Eps domain containing 1 ISO ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 ClinVar
OMIM
PMID:25741868, PMID:29395073 NCBI chr 1:13,262,049...13,298,347
Ensembl chr 1:13,212,324...13,298,347
JBrowse link
Neurodegeneration with Brain Iron Accumulation 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crat carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 OMIM
ClinVar
PMID:25741868, PMID:29395073 NCBI chr 3:8,967,984...8,981,959
Ensembl chr 3:8,968,417...8,981,362
JBrowse link
pantothenate kinase-associated neurodegeneration 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: Pigmentary pallidal degeneration
ClinVar Annotator: match by OMIM:234200
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1301187, PMID:1734303, PMID:7898702, PMID:11479594, PMID:12058097, PMID:12510040, PMID:12811783, PMID:14580665, PMID:14638969, PMID:15465096, PMID:15565311, PMID:15659606, PMID:15834858, PMID:15843062, PMID:15911822, PMID:16023068, PMID:16240131, PMID:16272150, PMID:16437574, PMID:16450344, PMID:17903678, PMID:19224615, PMID:20193558, PMID:20603201, PMID:20629144, PMID:21198414, PMID:21459825, PMID:21480873, PMID:22103354, PMID:22127788, PMID:22221393, PMID:22416811, PMID:22682757, PMID:23634310, PMID:23757202, PMID:23968566, PMID:24033266, PMID:24075960, PMID:24209433, PMID:24215330, PMID:24348190, PMID:24712887, PMID:25741868, PMID:25802776, PMID:25915509, PMID:26087139, PMID:26467025, PMID:26795593, PMID:26828213, PMID:27185474, PMID:28094106, PMID:28357202, PMID:28492532, PMID:28708303, PMID:28781879, PMID:28821231, PMID:28845923, PMID:28881514, PMID:29590070, PMID:30311386, PMID:30681573, PMID:32581362 NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797
JBrowse link
G Snca synuclein alpha ISO RGD PMID:10934140 RGD:6480098 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Sncb synuclein, beta ISO RGD PMID:10934140 RGD:6480098 NCBI chr17:10,384,472...10,392,776
Ensembl chr17:10,384,511...10,392,843
JBrowse link
G Sncg synuclein, gamma ISO RGD PMID:10934140 RGD:6480098 NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707
JBrowse link
Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
ClinVar Annotator: match by term: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
ClinVar Annotator: match by term: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
ClinVar
OMIM
PMID:24033266, PMID:25741868, PMID:26805781, PMID:26805782, PMID:27711071, PMID:29369572, PMID:30245509, PMID:32576985 NCBI chr11:86,793,959...86,840,556
Ensembl chr11:86,797,557...86,840,573
JBrowse link
Schindler Disease, Type I 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 2
ClinVar Annotator: match by term: SCHINDLER DISEASE, TYPE II
ClinVar Annotator: match by term: Schindler disease, type 1
ClinVar Annotator: match by OMIM:609242
ClinVar Annotator: match by OMIM:609241
ClinVar Annotator: match by term: NAGA DEFICIENCY, TYPE I
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1131374, PMID:2243144, PMID:2372288, PMID:2564952, PMID:7707696, PMID:8040340, PMID:8071745, PMID:8782044, PMID:11251574, PMID:11313741, PMID:14685826, PMID:15619430, PMID:17171432, PMID:18414213, PMID:19683538, PMID:24033266, PMID:25741868, PMID:27138754, PMID:28492532, PMID:29431110, PMID:30487145, PMID:32860008 NCBI chr 7:123,563,047...123,572,074
Ensembl chr 7:123,563,059...123,572,082
JBrowse link
G Wbp2nl WBP2 N-terminal like ISO ClinVar Annotator: match by term: Schindler disease, type 1 ClinVar NCBI chr 7:123,531,657...123,548,574
Ensembl chr 7:123,531,682...123,548,081
JBrowse link

Term paths to the root
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  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            cerebral degeneration 272
              neuroaxonal dystrophy 32
                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
                Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 1
                Schindler Disease, Type I 2
                cerebral folate receptor alpha deficiency 10
                neurodegeneration with brain iron accumulation + 14
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.