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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:neuronal ceroid lipofuscinosis
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Accession:DOID:14503 term browser browse the term
Definition:A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.
Synonyms:exact_synonym: Batten Mayou Disease;   Ceroid Storage Disease;   Ceroid Storage Diseases;   Jansky Bielschowsky Disease;   Kuf Disease;   Kuf's Diseases;   Kuf's disease;   Kufs Disease Autosomal Recessive;   Kufs Type Neuronal Ceroid Lipofuscinosis;   Kufs disease;   Lipofuscin Storage Disease;   hereditary ceroid lipofuscinosis;   lipofuscin storage diseases;   neuronal ceroid lipofuscinoses
 narrow_synonym: Infantile Neuronal Ceroid Lipofuscinosis;   Juvenile Cerebroretinal Degeneration;   Juvenile Cerebroretinal Degenerations;   Late-Infantile Neuronal Ceroid Lipofuscinosis;   adult neuronal ceroid lipofuscinosis;   amaurotic idiocy, adult type;   neuronal ceroid lipofuscinosis, 12;   neuronal ceroid lipofuscinosis, adult type
 primary_id: MESH:D009472
 alt_id: OMIA:001503;   OMIA:001552
 xref: EFO:0003111;   EFO:0003112;   GARD:10739;   MONDO:0015674;   MONDO:0016295;   NCI:C61257;   OMIM:PS256730;   ORDO:216;   ORDO:79262
For additional species annotation, visit the Alliance of Genome Resources.



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neuronal ceroid lipofuscinosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD16B abhydrolase domain containing 16B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr17:62,729,995...62,732,060
Ensembl chr17:62,730,062...62,731,474
JBrowse link
G ADRM1 ADRM1 26S proteasome ubiquitin receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,692,923...61,698,138
Ensembl chr17:61,692,945...61,698,144
JBrowse link
G AP2A2 adaptor related protein complex 2 subunit alpha 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:580,169...628,098
Ensembl chr 2:580,182...628,087
JBrowse link
G APBB1 amyloid beta precursor protein binding family B member 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,303,032...3,323,828
Ensembl chr 9:3,303,112...3,324,037
JBrowse link
G APOBR apolipoprotein B receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 3:18,427,788...18,433,689 JBrowse link
G ARFGAP1 ADP ribosylation factor GTPase activating protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,380,060...62,391,836
Ensembl chr17:62,380,091...62,391,856
JBrowse link
G ARFRP1 ADP ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr17:62,636,584...62,642,485
Ensembl chr17:62,636,588...62,642,490
JBrowse link
G ARHGEF10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:15024724 PMID:28116333 PMID:28492532 NCBI chr15:33,370,093...33,465,852
Ensembl chr15:33,370,126...33,446,598
JBrowse link
G ARSG arylsulfatase G ISO Lysosomal storage disease, ARSG related OMIA PMID:12951908 PMID:15058771 PMID:15365721 PMID:16916197 PMID:20429032 More... NCBI chr12:11,751,930...11,882,844
Ensembl chr12:11,751,937...11,843,055
JBrowse link
G ASCL2 achaete-scute family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:1,558,459...1,560,112
Ensembl chr 2:1,558,459...1,560,112
JBrowse link
G ATP13A2 ATPase cation transporting 13A2 ISO CTD Direct Evidence: marker/mechanism
Neuronal ceroid lipofuscinosis, 12
CTD
OMIA
PMID:1471473 PMID:1609844 PMID:12061538 PMID:15691038 PMID:15771740 More... NCBI chr 6:75,618,317...75,638,591
Ensembl chr 6:75,618,319...75,638,591
JBrowse link
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 3:18,545,064...18,568,312
Ensembl chr 3:18,545,071...18,568,310
JBrowse link
G ATXN2L ataxin 2 like ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 3:18,506,082...18,519,060
Ensembl chr 3:18,506,052...18,519,056
JBrowse link
G BHLHE23 basic helix-loop-helix family member e23 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,217,583...62,228,599
Ensembl chr17:62,227,916...62,228,638
JBrowse link
G BIRC7 baculoviral IAP repeat containing 7 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,351,663...62,356,220 JBrowse link
G BRSK2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:896,720...953,908
Ensembl chr 2:896,585...953,108
JBrowse link
G C9H11orf42 chromosome 9 C11orf42 homolog ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,464,556...3,469,512
Ensembl chr 9:3,463,555...3,469,790
JBrowse link
G CABLES2 Cdk5 and Abl enzyme substrate 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,764,933...61,778,394
Ensembl chr17:61,764,937...61,778,394
JBrowse link
G CAVIN3 caveolae associated protein 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,378,144...3,379,851
Ensembl chr 9:3,378,207...3,379,847
JBrowse link
G CCKBR cholecystokinin B receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,409,222...3,419,513 JBrowse link
G CD151 CD151 molecule ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:525,000...529,568
Ensembl chr 2:525,051...529,565
JBrowse link
G CD19 CD19 molecule ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 3:18,592,785...18,601,273
Ensembl chr 3:18,592,880...18,601,263
JBrowse link
G CD81 CD81 molecule ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:1,625,728...1,641,662
Ensembl chr 2:1,625,736...1,641,663
JBrowse link
G CDHR5 cadherin related family member 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:376,449...382,713
Ensembl chr 2:375,726...382,719
JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:2,019,391...2,022,092
Ensembl chr 2:2,019,830...2,021,853
JBrowse link
G CEND1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:487,817...490,704
Ensembl chr 2:487,821...490,699
JBrowse link
G CHID1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:551,973...570,849
Ensembl chr 2:552,324...571,753
JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr17:62,424,672...62,436,646
Ensembl chr17:62,423,878...62,435,728
JBrowse link
G CLCN3 chloride voltage-gated channel 3 ISO RGD PMID:12059962 RGD:734783 NCBI chr14:20,037,628...20,127,160
Ensembl chr14:20,026,685...20,127,155
JBrowse link
G CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:7553855 PMID:9311735 PMID:9450775 PMID:9536098 PMID:9618513 More... NCBI chr 3:18,433,564...18,450,296
Ensembl chr 3:18,433,836...18,450,290
JBrowse link
G CLN5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar PMID:9536098 PMID:9662406 PMID:10953198 PMID:11727201 PMID:11971870 More... NCBI chr11:49,105,822...49,128,425
Ensembl chr11:49,105,878...49,129,886
JBrowse link
G CLN6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:3145 PMID:13233 PMID:11727201 PMID:11791207 PMID:12673792 More... NCBI chr 1:166,107,895...166,126,054
Ensembl chr 1:166,107,228...166,126,808
JBrowse link
G CLN8 CLN8 transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:2199011 PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 More... NCBI chr15:33,282,524...33,325,598
Ensembl chr15:33,288,301...33,304,631
JBrowse link
G CNGA4 cyclic nucleotide gated channel subunit alpha 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,430,995...3,438,411
Ensembl chr 9:3,431,340...3,442,426
JBrowse link
G COL20A1 collagen type XX alpha 1 chain ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,395,383...62,419,054 JBrowse link
G COL9A3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,074,108...62,094,228
Ensembl chr17:62,074,855...62,093,703
JBrowse link
G CRACR2B calcium release activated channel regulator 2B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:518,102...524,085
Ensembl chr 2:518,544...524,081
JBrowse link
G CTSD cathepsin D ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9536098 PMID:10218883 PMID:16199547 PMID:16670177 PMID:17576681 More... NCBI chr 2:1,188,548...1,197,642
Ensembl chr 2:1,188,549...1,197,643
JBrowse link
G CTSF cathepsin F ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar NCBI chr 2:5,855,083...5,860,258
Ensembl chr 2:5,855,111...5,860,251
JBrowse link
G DEAF1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:404,514...427,584
Ensembl chr 2:404,533...427,542
JBrowse link
G DIDO1 death inducer-obliterator 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,126,026...62,174,095
Ensembl chr17:62,125,122...62,174,071
JBrowse link
G DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9536098 PMID:17576681 PMID:19822871 PMID:23360469 PMID:24811917 More... NCBI chr17:62,754,630...62,780,470
Ensembl chr17:62,754,802...62,780,468
JBrowse link
G DNHD1 dynein heavy chain domain 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,177,007...3,242,892 JBrowse link
G DRD4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:398,766...401,539
Ensembl chr 2:398,766...402,433
JBrowse link
G DUSP8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:1,006,589...1,022,444
Ensembl chr 2:1,008,761...1,022,460
JBrowse link
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884
JBrowse link
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr17:62,517,811...62,526,379
Ensembl chr17:62,517,503...62,526,190
JBrowse link
G EPS8L2 EPS8 like 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:435,257...452,630
Ensembl chr 2:433,649...452,630
JBrowse link
G FBXL3 F-box and leucine rich repeat protein 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chr11:49,131,663...49,151,380
Ensembl chr11:49,131,665...49,151,009
JBrowse link
G FHIP1B FHF complex subunit HOOK interacting protein 1B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,441,613...3,464,237
Ensembl chr 9:3,446,075...3,464,226
JBrowse link
G FNDC11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr17:62,558,294...62,559,961
Ensembl chr17:62,558,684...62,559,688
JBrowse link
G GATA5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,824,891...61,834,742
Ensembl chr17:61,824,899...61,834,267
JBrowse link
G GATD1 glutamine amidotransferase class 1 domain containing 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:472,766...484,609
Ensembl chr 2:474,296...480,736
JBrowse link
G GID8 GID complex subunit 8 homolog ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,174,222...62,181,107
Ensembl chr17:62,174,231...62,181,107
JBrowse link
G GMEB2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr17:62,568,546...62,595,880
Ensembl chr17:62,568,549...62,584,820
JBrowse link
G HELZ2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr 6:59,916,378...59,932,537
Ensembl chr 6:59,919,847...59,932,546
JBrowse link
G HPX hemopexin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,288,288...3,297,051
Ensembl chr 9:3,288,172...3,297,047
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO protein:increased expression:brain RGD PMID:21094208 RGD:5686293 NCBI chr 1:265,930,044...265,934,959
Ensembl chr 1:265,930,045...265,934,894
JBrowse link
G IFITM10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:1,166,975...1,183,309
Ensembl chr 2:1,166,971...1,183,315
JBrowse link
G IGF2 insulin like growth factor 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G IL27 interleukin 27 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
JBrowse link
G ILK integrin linked kinase ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,145,647...3,152,097
Ensembl chr 9:3,145,608...3,159,858
JBrowse link
G INS insulin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841
JBrowse link
G IRF7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:372,235...375,572
Ensembl chr 2:372,238...375,378
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111
JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr17:62,459,277...62,506,403
Ensembl chr17:62,459,281...62,506,424
JBrowse link
G KCTD7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:22748208 PMID:25976102 PMID:27742667 PMID:28492532 PMID:30295347 More... NCBI chr 3:16,382,333...16,393,861
Ensembl chr 3:16,385,006...16,393,841
JBrowse link
G LAMA5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,698,370...61,747,795
Ensembl chr17:61,697,517...61,747,955
JBrowse link
G LIME1 Lck interacting transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr17:62,652,618...62,655,342 JBrowse link
G LMNTD2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:323,642...329,782
Ensembl chr 2:323,647...329,660
JBrowse link
G LOC100514118 olfactory receptor 52B2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,487,855...3,490,641
Ensembl chr 9:3,488,681...3,489,649
JBrowse link
G LOC100514860 olfactory receptor 56A3-like ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,572,258...3,573,205 JBrowse link
G LOC100515042 olfactory receptor 56A4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,592,979...3,593,920 JBrowse link
G LOC100515562 olfactory receptor 52N2-like ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,653,979...3,654,941 JBrowse link
G LOC100515742 olfactory receptor 52N1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,675,410...3,676,375 JBrowse link
G LOC100516093 olfactory receptor 52N4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:4,071,226...4,072,185 JBrowse link
G LOC100520039 olfactory receptor 56B4-like ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,522,175...3,523,170
Ensembl chr 9:3,522,175...3,523,170
JBrowse link
G LOC100521811 olfactory receptor 52E4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,623,979...3,624,914
Ensembl chr 9:3,609,512...3,624,914
JBrowse link
G LOC100523626 olfactory receptor 56B1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:4,082,601...4,083,584
Ensembl chr 9:4,082,655...4,083,563
JBrowse link
G LOC102164011 DNA-directed RNA polymerases I, II, and III subunit RPABC5-like ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:109,821,516...109,823,848 JBrowse link
G LOC110255216 olfactory receptor 56A1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,533,935...3,534,882
Ensembl chr 9:3,533,926...3,534,882
JBrowse link
G LOC110255223 olfactory receptor 52L1-like ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,895,239...3,896,912 JBrowse link
G LOC110255363 olfactory receptor 52W1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,472,870...3,477,853
Ensembl chr 9:3,474,365...3,475,327
JBrowse link
G LOC110262266 olfactory receptor 56A4-like ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,885,910...3,887,115 JBrowse link
G LOC110262327 olfactory receptor 52N5-like ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,981,366...3,982,307
Ensembl chr 9:3,981,366...3,982,307
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699
JBrowse link
G LSP1 lymphocyte specific protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:1,261,957...1,295,891
Ensembl chr 2:1,262,079...1,295,887
JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19201763 PMID:19277732 PMID:22668694 PMID:25333361 PMID:25741868 More... NCBI chr 8:96,925,063...96,972,390
Ensembl chr 8:96,925,081...96,972,383
JBrowse link
G MIR1 microRNA mir-1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,894,036...61,894,143
Ensembl chr17:61,894,036...61,894,143
JBrowse link
G MIR133A-1 microRNA mir-133a-1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,904,781...61,904,883
Ensembl chr17:61,904,781...61,904,883
JBrowse link
G MOB2 MOB kinase activator 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:959,203...993,674
Ensembl chr 2:958,904...971,402
JBrowse link
G MRGBP MRG domain binding protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,058,401...62,062,962
Ensembl chr17:62,058,424...62,062,960
JBrowse link
G MRPL23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:1,346,864...1,356,539 JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:689,363...719,542
Ensembl chr 2:689,364...710,330
JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:757,897...790,321 JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:807,685...842,096 JBrowse link
G MUC6 mucin 6, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:630,075...657,967
Ensembl chr 2:629,796...655,380
JBrowse link
G MYCBP2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chr11:49,163,969...49,432,865
Ensembl chr11:49,163,684...49,432,583
JBrowse link
G NKAIN4 sodium/potassium transporting ATPase interacting 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,356,862...62,369,461
Ensembl chr17:62,356,422...62,380,859
JBrowse link
G NTSR1 neurotensin receptor 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,989,601...62,038,299
Ensembl chr17:61,989,402...62,033,548
JBrowse link
G NUPR1 nuclear protein 1, transcriptional regulator ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 3:18,402,781...18,404,411
Ensembl chr 3:18,402,935...18,511,087
JBrowse link
G OGFR opioid growth factor receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,065,483...62,072,950
Ensembl chr17:62,065,456...62,072,950
JBrowse link
G OSBPL2 oxysterol binding protein like 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,643,263...61,683,178
Ensembl chr17:61,643,377...61,685,819
JBrowse link
G PHRF1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:340,536...371,699
Ensembl chr 2:340,528...371,692
JBrowse link
G PIDD1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:499,294...505,740
Ensembl chr 2:499,303...504,871
JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:513,065...517,962
Ensembl chr 2:513,077...518,182
JBrowse link
G PPDPF pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr17:62,537,510...62,539,012 JBrowse link
G PPT1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:2538469 PMID:7637805 PMID:9425237 PMID:9571187 PMID:9664077 More... NCBI chr 6:95,840,906...95,860,858
Ensembl chr 6:95,840,908...95,860,858
JBrowse link
G PPT2 palmitoyl-protein thioesterase 2 ISO RGD
MouseDO
PMID:11717424 RGD:734785 NCBI chr 7:24,188,335...24,200,707
Ensembl chr 7:24,188,030...24,200,704
JBrowse link
G PRPF6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,815,509...62,857,795
Ensembl chr17:62,815,085...62,858,382
JBrowse link
G PTK6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr17:62,538,853...62,547,866
Ensembl chr17:62,538,855...62,546,870
JBrowse link
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 3:18,568,264...18,586,259
Ensembl chr 3:18,568,266...18,585,925
JBrowse link
G RASSF7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:329,830...332,505
Ensembl chr 2:329,851...332,520
JBrowse link
G RBBP8NL RBBP8 N-terminal like ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,778,579...61,794,258
Ensembl chr17:61,782,605...61,787,321
JBrowse link
G RPLP2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:507,891...509,818
Ensembl chr 2:507,848...510,782
JBrowse link
G RPS21 ribosomal protein S21 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,763,606...61,764,823
Ensembl chr17:61,763,574...61,764,832
JBrowse link
G RRP8 ribosomal RNA processing 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,152,162...3,169,380
Ensembl chr 9:3,152,209...3,162,540
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr17:62,611,844...62,636,628
Ensembl chr17:62,611,909...62,634,690
JBrowse link
G SAMD10 sterile alpha motif domain containing 10 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,809,504...62,813,993
Ensembl chr17:62,809,504...62,813,991
JBrowse link
G SCEL sciellin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chr11:49,651,589...49,777,777
Ensembl chr11:49,651,673...49,775,429
JBrowse link
G SCT secretin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:382,783...385,082
Ensembl chr 2:383,799...384,841
JBrowse link
G SGF29 SAGA complex associated factor 29 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 3:18,354,798...18,387,930
Ensembl chr 3:18,354,799...18,387,856
JBrowse link
G SH2B1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 3:18,533,282...18,543,133
Ensembl chr 3:18,524,820...18,543,135
JBrowse link
G SLAIN1 SLAIN motif family member 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chr11:49,807,976...49,886,829
Ensembl chr11:49,807,994...49,886,822
JBrowse link
G SLC17A9 solute carrier family 17 member 9 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,186,114...62,200,091
Ensembl chr17:62,186,112...62,200,084
JBrowse link
G SLC25A22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:491,288...498,773
Ensembl chr 2:491,293...498,767
JBrowse link
G SLC2A4RG SLC2A4 regulator ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr17:62,655,992...62,659,620
Ensembl chr17:62,657,566...62,659,615
JBrowse link
G SLCO4A1 solute carrier organic anion transporter family member 4A1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,947,636...61,969,391
Ensembl chr17:61,947,628...61,969,970
JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,324,091...3,328,493
Ensembl chr 9:3,324,442...3,328,457
JBrowse link
G SOD2 superoxide dismutase 2 ISO RGD PMID:12946273 RGD:1581253 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
JBrowse link
G SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr17:62,549,025...62,555,904
Ensembl chr17:62,548,182...62,556,975
JBrowse link
G STMN3 stathmin 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr17:62,600,450...62,609,851
Ensembl chr17:62,600,455...62,609,018
JBrowse link
G SULT1A3 sulfotransferase family 1A member 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 3:18,351,205...18,354,653
Ensembl chr 3:18,351,194...18,354,649
JBrowse link
G SYT8 synaptotagmin 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:1,245,988...1,250,422
Ensembl chr 2:1,247,878...1,250,437
JBrowse link
G TAF10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,144,262...3,145,702
Ensembl chr 9:3,144,277...3,145,720
JBrowse link
G TALDO1 transaldolase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:464,781...472,836
Ensembl chr 2:464,728...472,835
JBrowse link
G TCFL5 transcription factor like 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,093,906...62,115,669
Ensembl chr17:62,093,907...62,115,650
JBrowse link
G TH tyrosine hydroxylase ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:1,499,628...1,506,180
Ensembl chr 2:1,499,620...1,506,170
JBrowse link
G TIMM10B translocase of inner mitochondrial membrane 10B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,248,474...3,249,975
Ensembl chr 9:3,248,159...3,250,050
JBrowse link
G TMEM80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:428,297...433,533
Ensembl chr 2:428,303...433,528
JBrowse link
G TNFRSF6B TNF receptor superfamily member 6b ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr17:62,635,024...62,637,520 JBrowse link
G TNNI2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:1,251,566...1,253,883
Ensembl chr 2:1,251,527...1,253,893
JBrowse link
G TNNT3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:1,297,826...1,316,865
Ensembl chr 2:1,299,174...1,316,517
JBrowse link
G TOLLIP toll interacting protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:852,198...864,337
Ensembl chr 2:851,512...864,483
JBrowse link
G TPD52L2 TPD52 like 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr17:62,733,555...62,750,566
Ensembl chr17:62,733,593...62,750,557
JBrowse link
G TPP1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:10356316 More... NCBI chr 9:3,135,580...3,143,408
Ensembl chr 9:3,135,642...3,143,404
JBrowse link
G TRIM3 tripartite motif containing 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 9:3,256,915...3,281,846
Ensembl chr 9:3,272,798...3,282,366
JBrowse link
G TRPM5 transient receptor potential cation channel subfamily M member 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:1,646,597...1,664,935
Ensembl chr 2:1,647,160...1,664,933
JBrowse link
G TSPAN32 tetraspanin 32 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:1,584,486...1,599,411
Ensembl chr 2:1,584,842...1,602,888
JBrowse link
G TSPAN4 tetraspanin 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:532,087...550,706
Ensembl chr 2:534,341...550,697
JBrowse link
G TSSC4 tumor suppressing subtransferable candidate 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 2:1,642,693...1,645,860
Ensembl chr 2:1,643,006...1,645,858
JBrowse link
G TUFM Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr 3:18,521,119...18,524,705
Ensembl chr 3:18,521,128...18,524,959
JBrowse link
G UCKL1 uridine-cytidine kinase 1 like 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,785,419...62,796,396
Ensembl chr17:62,785,422...62,796,378
JBrowse link
G YTHDF1 YTH N6-methyladenosine RNA binding protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,329,302...62,341,312
Ensembl chr17:62,329,302...62,341,413
JBrowse link
G ZBTB46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr17:62,659,779...62,715,221
Ensembl chr17:62,659,786...62,709,235
JBrowse link
G ZGPAT zinc finger CCCH-type and G-patch domain containing ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr17:62,640,988...62,652,478
Ensembl chr17:62,635,018...62,652,483
JBrowse link
G ZNF512B zinc finger protein 512B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,796,583...62,807,340
Ensembl chr17:62,796,585...62,807,091
JBrowse link
neuronal ceroid lipofuscinosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIS1 fission, mitochondrial 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr 3:8,938,250...8,942,102
Ensembl chr 3:8,937,453...8,946,955
JBrowse link
G GFAP glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr12:18,456,268...18,466,594
Ensembl chr12:18,456,263...18,466,592
JBrowse link
G MFN1 mitofusin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr13:117,404,637...117,441,750
Ensembl chr13:117,404,699...117,442,481
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,160...14,241,196
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992
JBrowse link
G PPT1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 OMIM
ClinVar
PMID:2538469 PMID:7637805 PMID:9425237 PMID:9536098 PMID:9571187 More... NCBI chr 6:95,840,906...95,860,858
Ensembl chr 6:95,840,908...95,860,858
JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr12:36,111,584...36,159,287
Ensembl chr12:36,111,653...36,160,376
JBrowse link
G SIRT1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,167...71,123,297
JBrowse link
G SYP synaptophysin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr  X:43,232,190...43,246,764
Ensembl chr  X:43,232,192...43,246,680
JBrowse link
G TFAM transcription factor A, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr14:92,261,713...92,279,731
Ensembl chr14:92,259,403...92,279,731
JBrowse link
neuronal ceroid lipofuscinosis 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSD cathepsin D ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 10 OMIM
ClinVar
PMID:10218883 PMID:16670177 PMID:16685649 PMID:24767253 PMID:25298308 More... NCBI chr 2:1,188,548...1,197,642
Ensembl chr 2:1,188,549...1,197,643
JBrowse link
neuronal ceroid lipofuscinosis 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRN granulin precursor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 11 OMIM
ClinVar
PMID:16862116 PMID:16950801 PMID:17698705 PMID:18245784 PMID:18392865 More... NCBI chr12:18,893,772...18,900,444
Ensembl chr12:18,893,770...18,900,446
JBrowse link
neuronal ceroid lipofuscinosis 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSF cathepsin F ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 13 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17828264 PMID:23297359 More... NCBI chr 2:5,855,083...5,860,258
Ensembl chr 2:5,855,111...5,860,251
JBrowse link
neuronal ceroid lipofuscinosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MFSD8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis ClinVar PMID:16199547 PMID:17564970 PMID:18414213 PMID:19177532 PMID:19201763 More... NCBI chr 8:96,925,063...96,972,390
Ensembl chr 8:96,925,081...96,972,383
JBrowse link
G TPP1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2
ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2
OMIM
ClinVar
PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:10356316 More... NCBI chr 9:3,135,580...3,143,408
Ensembl chr 9:3,135,642...3,143,404
JBrowse link
neuronal ceroid lipofuscinosis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN3 chloride voltage-gated channel 3 ISO OMIM:204200 MouseDO NCBI chr14:20,037,628...20,127,160
Ensembl chr14:20,026,685...20,127,155
JBrowse link
G CLCN6 chloride voltage-gated channel 6 ISO OMIM:204200 MouseDO NCBI chr 6:71,881,912...71,915,016
Ensembl chr 6:71,881,972...71,916,029
JBrowse link
G CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: CLN3-Related Neuronal Ceroid-Lipofuscinosis | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 3, protracted | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 3 | ClinVar Annotator: match by term: Spielmeyer Sjogren disease OMIM
ClinVar
PMID:7553855 PMID:7887420 PMID:9004140 PMID:9311735 PMID:9392580 More... NCBI chr 3:18,433,564...18,450,296
Ensembl chr 3:18,433,836...18,450,290
JBrowse link
G PPT1 palmitoyl-protein thioesterase 1 ISO OMIM:204200 MouseDO NCBI chr 6:95,840,906...95,860,858
Ensembl chr 6:95,840,908...95,860,858
JBrowse link
neuronal ceroid lipofuscinosis 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Kufs disease autosomal dominant | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4B OMIM
ClinVar
PMID:11489285 PMID:12112194 PMID:21820099 PMID:22073189 PMID:22235333 More... NCBI chr17:62,754,630...62,780,470
Ensembl chr17:62,754,802...62,780,468
JBrowse link
neuronal ceroid lipofuscinosis 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLN5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 5 OMIM
ClinVar
PMID:9536098 PMID:9662406 PMID:10953198 PMID:11971870 PMID:12134079 More... NCBI chr11:49,105,822...49,128,425
Ensembl chr11:49,105,878...49,129,886
JBrowse link
neuronal ceroid lipofuscinosis 6A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLN6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6 OMIM
ClinVar
PMID:3145 PMID:13233 PMID:11727201 PMID:11791207 PMID:12673792 More... NCBI chr 1:166,107,895...166,126,054
Ensembl chr 1:166,107,228...166,126,808
JBrowse link
G GSK3B glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr13:140,136,109...140,370,197
Ensembl chr13:140,136,158...140,369,569
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567
JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A ClinVar PMID:12369017 PMID:15221801 PMID:15234149 PMID:15241805 PMID:19405096 More... NCBI chr 9:3,324,091...3,328,493
Ensembl chr 9:3,324,442...3,328,457
JBrowse link
G STX6 syntaxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr 9:122,533,737...122,580,631
Ensembl chr 9:122,529,727...122,580,608
JBrowse link
G SYP synaptophysin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr  X:43,232,190...43,246,764
Ensembl chr  X:43,232,192...43,246,680
JBrowse link
neuronal ceroid lipofuscinosis 6B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLN6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 4A autosomal recessive | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4A OMIM
ClinVar
PMID:3284607 PMID:12673792 PMID:12815591 PMID:14997940 PMID:18846690 More... NCBI chr 1:166,107,895...166,126,054
Ensembl chr 1:166,107,228...166,126,808
JBrowse link
neuronal ceroid lipofuscinosis 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD18 abhydrolase domain containing 18 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 8:96,887,464...96,924,862
Ensembl chr 8:96,887,464...96,924,927
JBrowse link
G HSPA4L heat shock protein family A (Hsp70) member 4 like ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 8:97,032,179...97,088,240
Ensembl chr 8:97,032,189...97,089,949
JBrowse link
G INTU inturned planar cell polarity protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 8:97,123,062...97,204,659
Ensembl chr 8:97,123,065...97,204,650
JBrowse link
G LARP1B La ribonucleoprotein 1B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 8:96,751,295...96,856,069
Ensembl chr 8:96,751,303...96,856,006
JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 OMIM
ClinVar
PMID:9536098 PMID:11941481 PMID:15074367 PMID:16199547 PMID:17564970 More... NCBI chr 8:96,925,063...96,972,390
Ensembl chr 8:96,925,081...96,972,383
JBrowse link
G PLK4 polo like kinase 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 8:96,989,011...97,013,324
Ensembl chr 8:96,991,847...97,013,461
JBrowse link
G SLC25A31 solute carrier family 25 member 31 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 8:97,095,503...97,120,940
Ensembl chr 8:97,095,517...97,120,250
JBrowse link
neuronal ceroid lipofuscinosis 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLN8 CLN8 transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 OMIM
ClinVar
PMID:2199011 PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 More... NCBI chr15:33,282,524...33,325,598
Ensembl chr15:33,288,301...33,304,631
JBrowse link
neuronal ceroid lipofuscinosis 8 northern epilepsy variant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLN8 CLN8 transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 northern epilepsy variant OMIM
ClinVar
PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 PMID:15074367 More... NCBI chr15:33,282,524...33,325,598
Ensembl chr15:33,288,301...33,304,631
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14583
    Nutritional and Metabolic Diseases 5703
      disease of metabolism 5703
        lipid metabolism disorder 996
          lipid storage disease 617
            neuronal ceroid lipofuscinosis 179
              neuronal ceroid lipofuscinosis 1 10
              neuronal ceroid lipofuscinosis 10 1
              neuronal ceroid lipofuscinosis 11 1
              neuronal ceroid lipofuscinosis 13 1
              neuronal ceroid lipofuscinosis 2 2
              neuronal ceroid lipofuscinosis 3 4
              neuronal ceroid lipofuscinosis 4 1
              neuronal ceroid lipofuscinosis 5 1
              neuronal ceroid lipofuscinosis 6A 7
              neuronal ceroid lipofuscinosis 6B 1
              neuronal ceroid lipofuscinosis 7 7
              neuronal ceroid lipofuscinosis 8 1
              neuronal ceroid lipofuscinosis 8 northern epilepsy variant 1
              neuronal ceroid lipofuscinosis 9 0
Path 2
Term Annotations click to browse term
  disease 14583
    Developmental Disease 11968
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10787
        genetic disease 10341
          inherited metabolic disorder 3981
            lipid metabolism disorder 996
              lipid storage disease 617
                neuronal ceroid lipofuscinosis 179
                  neuronal ceroid lipofuscinosis 1 10
                  neuronal ceroid lipofuscinosis 10 1
                  neuronal ceroid lipofuscinosis 11 1
                  neuronal ceroid lipofuscinosis 13 1
                  neuronal ceroid lipofuscinosis 2 2
                  neuronal ceroid lipofuscinosis 3 4
                  neuronal ceroid lipofuscinosis 4 1
                  neuronal ceroid lipofuscinosis 5 1
                  neuronal ceroid lipofuscinosis 6A 7
                  neuronal ceroid lipofuscinosis 6B 1
                  neuronal ceroid lipofuscinosis 7 7
                  neuronal ceroid lipofuscinosis 8 1
                  neuronal ceroid lipofuscinosis 8 northern epilepsy variant 1
                  neuronal ceroid lipofuscinosis 9 0
paths to the root