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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 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,861,498...63,862,988
Ensembl chr20:63,861,498...63,862,988
JBrowse link
G ADRM1 ADRM1 26S proteasome ubiquitin receptor IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,302,896...62,308,862
Ensembl chr20:62,302,093...62,308,862
JBrowse link
G AP2A2 adaptor related protein complex 2 subunit alpha 2 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:925,870...1,012,240
Ensembl chr11:924,881...1,012,245
JBrowse link
G APBB1 amyloid beta precursor protein binding family B member 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,395,124...6,419,453
Ensembl chr11:6,395,125...6,419,414
JBrowse link
G APOBR apolipoprotein B receptor IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr16:28,494,643...28,498,964
Ensembl chr16:28,494,643...28,498,964
JBrowse link
G ARFGAP1 ADP ribosylation factor GTPase activating protein 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,272,813...63,289,790
Ensembl chr20:63,272,785...63,289,790
JBrowse link
G ARFIP2 ADP ribosylation factor interacting protein 2 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,476,519...6,481,331
Ensembl chr11:6,474,683...6,481,479
JBrowse link
G ARFRP1 ADP ribosylation factor related protein 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,698,647...63,707,976
Ensembl chr20:63,698,642...63,708,025
JBrowse link
G ARHGEF10 Rho guanine nucleotide exchange factor 10 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:15024724 PMID:28116333 PMID:28492532 NCBI chr 8:1,823,300...1,958,641
Ensembl chr 8:1,823,926...1,958,641
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 chr17:68,259,170...68,452,019
Ensembl chr17:68,259,182...68,422,731
JBrowse link
G ASCL2 achaete-scute family bHLH transcription factor 2 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,268,498...2,270,588
Ensembl chr11:2,268,498...2,270,588
JBrowse link
G ATP13A2 ATPase cation transporting 13A2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22022275 PMID:22847264 NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928
JBrowse link
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr16:28,878,488...28,904,466
Ensembl chr16:28,878,405...28,904,466
JBrowse link
G ATXN2L ataxin 2 like IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr16:28,822,999...28,837,232
Ensembl chr16:28,822,999...28,837,237
JBrowse link
G BHLHE23 basic helix-loop-helix family member e23 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,005,927...63,006,964
Ensembl chr20:63,005,927...63,007,035
JBrowse link
G BIRC7 baculoviral IAP repeat containing 7 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,235,905...63,240,495
Ensembl chr20:63,235,883...63,240,495
JBrowse link
G BRSK2 BR serine/threonine kinase 2 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,389,934...1,462,689
Ensembl chr11:1,389,899...1,462,689
JBrowse link
G C11orf21 chromosome 11 open reading frame 21 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,295,628...2,303,140
Ensembl chr11:2,295,628...2,303,049
JBrowse link
G C11orf42 chromosome 11 open reading frame 42 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,205,557...6,211,135
Ensembl chr11:6,205,557...6,211,135
JBrowse link
G CABLES2 Cdk5 and Abl enzyme substrate 2 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,388,634...62,407,285
Ensembl chr20:62,388,634...62,407,285
JBrowse link
G CAVIN3 caveolae associated protein 3 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,318,946...6,320,501
Ensembl chr11:6,318,946...6,320,532
JBrowse link
G CCKBR cholecystokinin B receptor IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,259,838...6,272,127
Ensembl chr11:6,259,806...6,272,127
JBrowse link
G CD151 CD151 molecule (Raph blood group) IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:832,952...838,831
Ensembl chr11:832,887...839,831
JBrowse link
G CD19 CD19 molecule IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342
JBrowse link
G CD81 CD81 molecule IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802
JBrowse link
G CDHR5 cadherin related family member 5 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:616,583...624,955
Ensembl chr11:616,577...626,078
JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
JBrowse link
G CEND1 cell cycle exit and neuronal differentiation 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:787,115...790,090
Ensembl chr11:787,115...790,113
JBrowse link
G CHID1 chitinase domain containing 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:867,859...915,214
Ensembl chr11:867,859...915,058
JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,343,223...63,361,349
Ensembl chr20:63,343,223...63,378,401
JBrowse link
G CLCN3 chloride voltage-gated channel 3 ISO RGD PMID:12059962 RGD:734783 NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673
JBrowse link
G CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin IAGP
EXP
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lipofuscin storage disease
ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar
CTD
PMID:7553855 PMID:9311735 PMID:9450775 PMID:9536098 PMID:9618513 More... NCBI chr16:28,466,653...28,492,082
Ensembl chr16:28,474,111...28,495,575
JBrowse link
G CLN5 CLN5 intracellular trafficking protein IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9536098 PMID:9662406 PMID:10953198 PMID:11971870 PMID:12134079 More... NCBI chr13:76,992,081...77,005,117
Ensembl chr13:76,990,660...77,019,143
JBrowse link
G CLN6 CLN6 transmembrane ER protein IAGP
ISO
EXP
DNA:mutations: :
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis
ClinVar
CTD
RGD
PMID:3145 PMID:13233 PMID:11727201 PMID:11791207 PMID:12673792 More... RGD:1358512, RGD:1358512, RGD:11064442 NCBI chr15:68,206,992...68,257,215
Ensembl chr15:68,206,992...68,257,211
JBrowse link
G CLN8 CLN8 transmembrane ER and ERGIC protein IAGP
EXP
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2199011 PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 More... NCBI chr 8:1,753,059...1,786,570
Ensembl chr 8:1,755,778...1,801,711
JBrowse link
G CLN8-AS1 CLN8 antisense RNA 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar NCBI chr 8:1,761,963...1,764,584
Ensembl chr 8:1,761,054...1,764,508
JBrowse link
G CNGA4 cyclic nucleotide gated channel subunit alpha 4 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,234,793...6,244,976
Ensembl chr11:6,234,765...6,244,479
JBrowse link
G COL20A1 collagen type XX alpha 1 chain IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,293,186...63,334,806
Ensembl chr20:63,293,186...63,334,851
JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159
JBrowse link
G CRACR2B calcium release activated channel regulator 2B IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:826,157...831,991
Ensembl chr11:826,144...831,991
JBrowse link
G CTSD cathepsin D IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis
ClinVar PMID:9536098 PMID:10218883 PMID:16199547 PMID:16670177 PMID:17576681 More... NCBI chr11:1,752,755...1,763,927
Ensembl chr11:1,752,752...1,764,573
JBrowse link
G CTSF cathepsin F IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar NCBI chr11:66,563,464...66,568,606
Ensembl chr11:66,563,464...66,568,879
JBrowse link
G DEAF1 DEAF1 transcription factor IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118
JBrowse link
G DIDO1 death inducer-obliterator 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,877,743...62,937,904
Ensembl chr20:62,877,738...62,937,952
JBrowse link
G DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9536098 PMID:17576681 PMID:19822871 PMID:23360469 PMID:24811917 More... NCBI chr20:63,895,126...63,936,011
Ensembl chr20:63,895,126...63,936,031
JBrowse link
G DNHD1 dynein heavy chain domain 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,497,280...6,572,020
Ensembl chr11:6,497,260...6,593,758
JBrowse link
G DRD4 dopamine receptor D4 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:637,269...640,706
Ensembl chr11:637,269...640,706
JBrowse link
G DUSP8 dual specificity phosphatase 8 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,554,051...1,572,848
Ensembl chr11:1,554,051...1,572,271
JBrowse link
G EDNRB endothelin receptor type B IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chr13:77,895,481...77,975,527
Ensembl chr13:77,895,481...77,975,529
JBrowse link
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239
JBrowse link
G EIF3C eukaryotic translation initiation factor 3 subunit C IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr16:28,688,558...28,735,730
Ensembl chr16:28,688,558...28,735,727
JBrowse link
G EPS8L2 EPS8 like 2 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:706,231...727,727
Ensembl chr11:694,438...727,727
JBrowse link
G FBXL3 F-box and leucine rich repeat protein 3 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chr13:77,005,260...77,027,159
Ensembl chr13:76,992,598...77,027,195
JBrowse link
G FHIP1B FHF complex subunit HOOK interacting protein 1B IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,211,345...6,234,636
Ensembl chr11:6,211,345...6,234,711
JBrowse link
G FNDC11 fibronectin type III domain containing 11 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,553,020...63,556,708
Ensembl chr20:63,547,891...63,556,695
JBrowse link
G GATA5 GATA binding protein 5 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995
JBrowse link
G GATD1 glutamine amidotransferase class 1 domain containing 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:767,222...777,487
Ensembl chr11:767,220...777,488
JBrowse link
G GID8 GID complex subunit 8 homolog IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,938,147...62,948,475
Ensembl chr20:62,938,147...62,948,475
JBrowse link
G GMEB2 glucocorticoid modulatory element binding protein 2 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,587,605...63,627,101
Ensembl chr20:63,587,602...63,627,101
JBrowse link
G H19 H19 imprinted maternally expressed transcript IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,001,470
JBrowse link
G HAR1A highly accelerated region 1A IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,101,292...63,104,386
Ensembl chr20:63,102,205...63,104,386
JBrowse link
G HAR1B highly accelerated region 1B IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,095,493...63,102,319
Ensembl chr20:63,090,806...63,102,631
JBrowse link
G HELZ2 helicase with zinc finger 2 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,558,086...63,574,239
Ensembl chr20:63,558,086...63,574,239
JBrowse link
G HPX hemopexin IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,431,049...6,440,987
Ensembl chr11:6,431,049...6,442,617
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO protein:increased expression:brain RGD PMID:21094208 RGD:5686293 NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,382
JBrowse link
G IFITM10 interferon induced transmembrane protein 10 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,732,406...1,750,595
Ensembl chr11:1,732,406...1,750,595
JBrowse link
G IGF2 insulin like growth factor 2 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
JBrowse link
G IGF2-AS IGF2 antisense RNA IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,140,512...2,148,666
Ensembl chr11:2,140,501...2,148,666
JBrowse link
G IL27 interleukin 27 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
JBrowse link
G ILK integrin linked kinase IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,603,774...6,610,870
Ensembl chr11:6,603,708...6,610,874
JBrowse link
G INS insulin IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
JBrowse link
G INS-IGF2 INS-IGF2 readthrough IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,129,117...2,161,209
Ensembl chr11:2,132,538...2,161,209
JBrowse link
G IRF7 interferon regulatory factor 7 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:612,555...615,950
Ensembl chr11:612,553...615,983
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,445,008...2,849,110
Ensembl chr11:2,444,684...2,849,105
JBrowse link
G KCNQ1DN KCNQ1 downstream neighbor IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,870,033...2,872,105
Ensembl chr11:2,870,033...2,872,105
JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,608,328...2,699,998
Ensembl chr11:2,608,328...2,699,994
JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677
JBrowse link
G KCTD7 potassium channel tetramerization domain containing 7 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar PMID:22748208 PMID:25976102 PMID:27742667 PMID:28492532 PMID:30295347 More... NCBI chr 7:66,628,881...66,643,229
Ensembl chr 7:66,628,881...66,649,067
JBrowse link
G KRTAP5-1 keratin associated protein 5-1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,584,342...1,585,283
Ensembl chr11:1,584,342...1,585,283
JBrowse link
G KRTAP5-2 keratin associated protein 5-2 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,597,177...1,598,294
Ensembl chr11:1,597,177...1,598,294
JBrowse link
G KRTAP5-3 keratin associated protein 5-3 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,607,565...1,608,463
Ensembl chr11:1,607,565...1,608,463
JBrowse link
G KRTAP5-4 keratin associated protein 5-4 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,620,958...1,622,138
Ensembl chr11:1,620,958...1,622,138
JBrowse link
G KRTAP5-5 keratin associated protein 5-5 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,629,775...1,630,930
Ensembl chr11:1,629,775...1,630,930
JBrowse link
G KRTAP5-6 keratin associated protein 5-6 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,697,195...1,697,755
Ensembl chr11:1,697,195...1,697,755
JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312
JBrowse link
G LIME1 Lck interacting transmembrane adaptor 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,735,701...63,739,103
Ensembl chr20:63,736,283...63,739,103
JBrowse link
G LMNTD2 lamin tail domain containing 2 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:554,850...560,738
Ensembl chr11:554,850...560,738
JBrowse link
G LMNTD2-AS1 LMNTD2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:559,262...560,107
Ensembl chr11:557,595...560,107
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
JBrowse link
G LSP1 lymphocyte specific protein 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,853,084...1,892,263
Ensembl chr11:1,850,904...1,892,267
JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Ceroid storage disease
ClinVar PMID:19201763 PMID:19277732 PMID:22668694 PMID:25333361 PMID:25741868 More... NCBI chr 4:127,917,732...127,965,963
Ensembl chr 4:127,917,799...127,966,034
JBrowse link
G MIR1-1 microRNA 1-1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,554,306...62,554,376
Ensembl chr20:62,554,306...62,554,376
JBrowse link
G MIR1-1HG MIR1-1 host gene IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,550,453...62,570,764
Ensembl chr20:62,550,447...62,570,767
JBrowse link
G MIR133A2 microRNA 133a-2 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,564,912...62,565,013
Ensembl chr20:62,564,912...62,565,013
JBrowse link
G MIR210 microRNA 210 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:568,089...568,198
Ensembl chr11:568,089...568,198
JBrowse link
G MIR210HG MIR210 host gene IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:565,657...568,457
Ensembl chr11:565,657...568,457
JBrowse link
G MOB2 MOB kinase activator 2 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,469,448...1,486,779
Ensembl chr11:1,469,457...1,501,247
JBrowse link
G MRGBP MRG domain binding protein IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,796,473...62,801,729
Ensembl chr20:62,796,473...62,801,729
JBrowse link
G MRPL23 mitochondrial ribosomal protein L23 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,947,332...2,014,944
Ensembl chr11:1,947,278...1,984,522
JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,074,875...1,110,508
Ensembl chr11:1,074,875...1,110,511
JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172
JBrowse link
G MUC6 mucin 6, oligomeric mucus/gel-forming IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,012,823...1,036,718
Ensembl chr11:1,012,823...1,036,718
JBrowse link
G MYCBP2 MYC binding protein 2 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chr13:77,044,657...77,327,094
Ensembl chr13:77,042,474...77,327,094
JBrowse link
G NKAIN4 sodium/potassium transporting ATPase interacting 4 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,240,784...63,254,921
Ensembl chr20:63,240,784...63,272,694
JBrowse link
G NTSR1 neurotensin receptor 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,708,836...62,762,771
Ensembl chr20:62,708,836...62,762,771
JBrowse link
G NUPR1 nuclear protein 1, transcriptional regulator IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr16:28,532,708...28,538,974
Ensembl chr16:28,532,708...28,539,008
JBrowse link
G OGFR opioid growth factor receptor IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,804,835...62,814,000
Ensembl chr20:62,804,835...62,814,000
JBrowse link
G OR52B2 olfactory receptor family 52 subfamily B member 2 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,169,355...6,170,326
Ensembl chr11:6,169,355...6,170,326
JBrowse link
G OR52E4 olfactory receptor family 52 subfamily E member 4 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:5,880,629...5,887,079
Ensembl chr11:5,880,629...5,887,079
JBrowse link
G OR52E6 olfactory receptor family 52 subfamily E member 6 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:5,840,928...5,841,897
Ensembl chr11:5,840,928...5,841,952
JBrowse link
G OR52E8 olfactory receptor family 52 subfamily E member 8 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:5,856,749...5,857,690
Ensembl chr11:5,856,749...5,857,690
JBrowse link
G OR52L1 olfactory receptor family 52 subfamily L member 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:5,985,892...5,986,985
Ensembl chr11:5,985,892...5,986,985
JBrowse link
G OR52N1 olfactory receptor family 52 subfamily N member 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:5,786,471...5,791,265
Ensembl chr11:5,786,471...5,791,265
JBrowse link
G OR52N2 olfactory receptor family 52 subfamily N member 2 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:5,808,924...5,821,483
Ensembl chr11:5,808,924...5,821,483
JBrowse link
G OR52N4 olfactory receptor family 52 subfamily N member 4 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:5,726,472...5,755,958
Ensembl chr11:5,754,243...5,755,958
JBrowse link
G OR52N5 olfactory receptor family 52 subfamily N member 5 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:5,776,165...5,783,355
Ensembl chr11:5,776,165...5,783,355
JBrowse link
G OR52W1 olfactory receptor family 52 subfamily W member 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,199,224...6,200,186
Ensembl chr11:6,199,224...6,200,186
JBrowse link
G OR56A1 olfactory receptor family 56 subfamily A member 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,019,336...6,034,338
Ensembl chr11:6,019,336...6,034,338
JBrowse link
G OR56A3 olfactory receptor family 56 subfamily A member 3 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:5,942,251...6,022,010
Ensembl chr11:5,938,751...5,951,347
JBrowse link
G OR56A4 olfactory receptor family 56 subfamily A member 4 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:5,999,445...6,006,946
Ensembl chr11:5,999,445...6,006,946
JBrowse link
G OR56A5 olfactory receptor family 56 subfamily A member 5 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:5,967,553...5,968,494
Ensembl chr11:5,967,177...5,968,494
JBrowse link
G OR56B1 olfactory receptor family 56 subfamily B member 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:5,736,448...5,738,523
Ensembl chr11:5,736,448...5,738,523
JBrowse link
G OR56B4 olfactory receptor family 56 subfamily B member 4 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,107,684...6,108,835
Ensembl chr11:6,107,684...6,108,835
JBrowse link
G OSBPL2 oxysterol binding protein like 2 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,238,521...62,296,183
Ensembl chr20:62,231,922...62,296,213
JBrowse link
G PHRF1 PHD and ring finger domains 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:576,470...612,222
Ensembl chr11:576,470...612,222
JBrowse link
G PIDD1 p53-induced death domain protein 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:799,184...809,501
Ensembl chr11:799,179...809,753
JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573
JBrowse link
G POLR2L RNA polymerase II, I and III subunit L IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:839,721...842,529
Ensembl chr11:837,356...842,529
JBrowse link
G PPDPF pancreatic progenitor cell differentiation and proliferation factor IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,520,741...63,522,206
Ensembl chr20:63,520,765...63,522,206
JBrowse link
G PPT1 palmitoyl-protein thioesterase 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:2538469 PMID:7637805 PMID:9425237 PMID:9571187 PMID:9664077 More... NCBI chr 1:40,071,461...40,097,252
Ensembl chr 1:40,072,710...40,097,260
JBrowse link
G PPT2 palmitoyl-protein thioesterase 2 ISO
ISS
MouseDO
RGD
PMID:11717424 RGD:734785 NCBI chr 6:32,153,528...32,163,675
Ensembl chr 6:32,153,441...32,163,678
JBrowse link
G PRPF6 pre-mRNA processing factor 6 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,981,132...64,033,100
Ensembl chr20:63,981,132...64,033,100
JBrowse link
G PTK6 protein tyrosine kinase 6 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,528,001...63,537,376
Ensembl chr20:63,528,001...63,537,376
JBrowse link
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr16:28,904,421...28,925,238
Ensembl chr16:28,904,421...28,936,526
JBrowse link
G RASSF7 Ras association domain family member 7 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:560,970...564,025
Ensembl chr11:560,404...564,025
JBrowse link
G RBBP8NL RBBP8 N-terminal like IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,410,237...62,427,539
Ensembl chr20:62,410,237...62,427,539
JBrowse link
G RPLP2 ribosomal protein lateral stalk subunit P2 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:809,967...812,876
Ensembl chr11:809,965...812,880
JBrowse link
G RPS21 ribosomal protein S21 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,387,103...62,388,520
Ensembl chr20:62,387,103...62,388,520
JBrowse link
G RRP8 ribosomal RNA processing 8 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,595,072...6,603,616
Ensembl chr11:6,595,072...6,603,616
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
JBrowse link
G SAMD10 sterile alpha motif domain containing 10 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,974,116...63,980,144
Ensembl chr20:63,974,116...63,980,008
JBrowse link
G SCEL sciellin IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chr13:77,535,706...77,645,263
Ensembl chr13:77,535,674...77,645,263
JBrowse link
G SCT secretin IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:626,309...627,181
Ensembl chr11:626,309...627,181
JBrowse link
G SGF29 SAGA complex associated factor 29 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr16:28,553,920...28,591,790
Ensembl chr16:28,553,915...28,591,790
JBrowse link
G SH2B1 SH2B adaptor protein 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212
JBrowse link
G SLAIN1 SLAIN motif family member 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:20157158 PMID:28492532 PMID:32393339 NCBI chr13:77,697,687...77,764,229
Ensembl chr13:77,697,687...77,764,242
JBrowse link
G SLC17A9 solute carrier family 17 member 9 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,952,709...62,969,585
Ensembl chr20:62,952,707...62,969,585
JBrowse link
G SLC25A22 solute carrier family 25 member 22 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281
JBrowse link
G SLC2A4RG SLC2A4 regulator IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,739,776...63,744,050
Ensembl chr20:63,739,776...63,744,050
JBrowse link
G SLCO4A1 solute carrier organic anion transporter family member 4A1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,642,503...62,690,740
Ensembl chr20:62,642,503...62,685,785
JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
JBrowse link
G SOD2 superoxide dismutase 2 IDA RGD PMID:12946273 RGD:1581253 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,538,489...63,547,749
Ensembl chr20:63,538,489...63,547,749
JBrowse link
G STMN3 stathmin 3 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,639,712...63,653,424
Ensembl chr20:63,639,705...63,657,682
JBrowse link
G SULT1A1 sulfotransferase family 1A member 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr16:28,605,258...28,623,375
Ensembl chr16:28,605,196...28,614,279
JBrowse link
G SULT1A2 sulfotransferase family 1A member 2 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr16:28,591,943...28,597,050
Ensembl chr16:28,591,943...28,597,050
JBrowse link
G SYT8 synaptotagmin 8 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,831,784...1,837,521
Ensembl chr11:1,828,307...1,837,521
JBrowse link
G TAF10 TATA-box binding protein associated factor 10 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,606,294...6,612,216
Ensembl chr11:6,606,294...6,612,539
JBrowse link
G TALDO1 transaldolase 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:747,464...765,012
Ensembl chr11:747,415...765,012
JBrowse link
G TCFL5 transcription factor like 5 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,841,005...62,861,822
Ensembl chr20:62,841,005...62,861,822
JBrowse link
G TH tyrosine hydroxylase IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815
JBrowse link
G TIMM10B translocase of inner mitochondrial membrane 10B IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,481,501...6,484,681
Ensembl chr11:6,481,501...6,484,681
JBrowse link
G TMEM80 transmembrane protein 80 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:695,639...705,028
Ensembl chr11:695,591...705,028
JBrowse link
G TNFRSF6B TNF receptor superfamily member 6b IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,696,652...63,698,684
Ensembl chr20:63,696,652...63,698,684
JBrowse link
G TNNI2 troponin I2, fast skeletal type IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680
JBrowse link
G TNNT3 troponin T3, fast skeletal type IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706
JBrowse link
G TOLLIP toll interacting protein IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,274,371...1,309,632
Ensembl chr11:1,274,371...1,309,654
JBrowse link
G TPD52L2 TPD52 like 2 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,865,270...63,891,538
Ensembl chr20:63,865,228...63,891,545
JBrowse link
G TPP1 tripeptidyl peptidase 1 IAGP
EXP
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9295267 PMID:9536098 PMID:9788728 PMID:10320038 PMID:10330339 More... NCBI chr11:6,612,768...6,619,422
Ensembl chr11:6,612,768...6,619,448
JBrowse link
G TRIM22 tripartite motif containing 22 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:5,689,790...5,710,863
Ensembl chr11:5,689,610...5,737,089
JBrowse link
G TRIM3 tripartite motif containing 3 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,448,613...6,474,459
Ensembl chr11:6,448,613...6,474,459
JBrowse link
G TRPM5 transient receptor potential cation channel subfamily M member 5 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,403,991...2,444,514
Ensembl chr11:2,404,515...2,444,514
JBrowse link
G TSPAN32 tetraspanin 32 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,302,013...2,318,204
Ensembl chr11:2,301,997...2,318,204
JBrowse link
G TSPAN4 tetraspanin 4 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:842,852...867,111
Ensembl chr11:842,812...867,116
JBrowse link
G TSSC4 tumor suppressing subtransferable candidate 4 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,400,750...2,403,876
Ensembl chr11:2,400,488...2,403,878
JBrowse link
G TUFM Tu translation elongation factor, mitochondrial IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 NCBI chr16:28,842,411...28,846,348
Ensembl chr16:28,842,411...28,846,348
JBrowse link
G UCKL1 uridine-cytidine kinase 1 like 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,939,829...63,956,416
Ensembl chr20:63,939,829...63,956,416
JBrowse link
G YTHDF1 YTH N6-methyladenosine RNA binding protein 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,195,429...63,216,131
Ensembl chr20:63,195,429...63,216,139
JBrowse link
G ZBTB46 zinc finger and BTB domain containing 46 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,743,670...63,833,895
Ensembl chr20:63,743,668...63,832,038
JBrowse link
G ZGPAT zinc finger CCCH-type and G-patch domain containing IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,707,442...63,736,142
Ensembl chr20:63,707,465...63,736,142
JBrowse link
G ZNF512B zinc finger protein 512B IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,956,704...63,969,930
Ensembl chr20:63,956,704...63,969,930
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr 7:101,239,472...101,245,081
Ensembl chr 7:101,239,458...101,252,316
JBrowse link
G GFAP glial fibrillary acidic protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937
JBrowse link
G LOC121725014 Sharpr-MPRA regulatory region 13734 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 ClinVar PMID:28492532 NCBI chr 1:40,084,697...40,084,991 JBrowse link
G MFN1 mitofusin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr 3:179,347,709...179,394,936
Ensembl chr 3:179,347,709...179,394,936
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
JBrowse link
G PPT1 palmitoyl-protein thioesterase 1 ISO
IAGP
EXP
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1
ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:2538469 PMID:7637805 PMID:9425237 PMID:9536098 PMID:9571187 More... RGD:734785 NCBI chr 1:40,071,461...40,097,252
Ensembl chr 1:40,072,710...40,097,260
JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr17:59,893,121...59,950,574
Ensembl chr17:59,893,046...59,950,574
JBrowse link
G SIRT1 sirtuin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
JBrowse link
G SYP synaptophysin EXP CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr  X:49,187,815...49,200,193
Ensembl chr  X:49,187,815...49,200,218
JBrowse link
G TFAM transcription factor A, mitochondrial EXP CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr10:58,385,410...58,399,220
Ensembl chr10:58,385,345...58,399,220
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 IAGP ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 10
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 10
ClinVar
OMIM
PMID:10218883 PMID:16670177 PMID:16685649 PMID:24767253 PMID:25298308 More... NCBI chr11:1,752,755...1,763,927
Ensembl chr11:1,752,752...1,764,573
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 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 11
ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 11
OMIM
ClinVar
PMID:16862116 PMID:16950801 PMID:17698705 PMID:18245784 PMID:18392865 More... NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106
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 IAGP ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 13
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 13
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17828264 PMID:23297359 More... NCBI chr11:66,563,464...66,568,606
Ensembl chr11:66,563,464...66,568,879
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 IAGP ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 2
ClinVar PMID:16199547 PMID:17564970 PMID:18414213 PMID:19177532 PMID:19201763 More... NCBI chr 4:127,917,732...127,965,963
Ensembl chr 4:127,917,799...127,966,034
JBrowse link
G TPP1 tripeptidyl peptidase 1 IAGP ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 2
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2
ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 2
ClinVar
OMIM
PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:10356316 More... NCBI chr11:6,612,768...6,619,422
Ensembl chr11:6,612,768...6,619,448
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 ISS OMIM:204200 MouseDO NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673
JBrowse link
G CLCN6 chloride voltage-gated channel 6 ISS OMIM:204200 MouseDO NCBI chr 1:11,806,191...11,843,130
Ensembl chr 1:11,806,096...11,848,079
JBrowse link
G CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin IAGP ClinVar Annotator: match by term: Juvenile neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 3
ClinVar Annotator: match by term: Spielmeyer Sjogren disease
ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 3, protracted
ClinVar
OMIM
PMID:7553855 PMID:7887420 PMID:9004140 PMID:9311735 PMID:9392580 More... NCBI chr16:28,466,653...28,492,082
Ensembl chr16:28,474,111...28,495,575
JBrowse link
G PPT1 palmitoyl-protein thioesterase 1 ISS OMIM:204200 MouseDO NCBI chr 1:40,071,461...40,097,252
Ensembl chr 1:40,072,710...40,097,260
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 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4B
ClinVar Annotator: match by term: Kufs disease autosomal dominant
OMIM
ClinVar
PMID:11489285 PMID:12112194 PMID:21820099 PMID:22073189 PMID:22235333 More... NCBI chr20:63,895,126...63,936,011
Ensembl chr20:63,895,126...63,936,031
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 IAGP ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 5
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 5
ClinVar
OMIM
PMID:9536098 PMID:9662406 PMID:10953198 PMID:11971870 PMID:12134079 More... NCBI chr13:76,992,081...77,005,117
Ensembl chr13:76,990,660...77,019,143
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 IAGP
EXP
ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 6
ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:3145 PMID:13233 PMID:11727201 PMID:11791207 PMID:12673792 More... NCBI chr15:68,206,992...68,257,215
Ensembl chr15:68,206,992...68,257,211
JBrowse link
G GSK3B glycogen synthase kinase 3 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr 3:119,821,321...120,094,447
Ensembl chr 3:119,821,321...120,094,994
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506
JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A ClinVar PMID:12369017 PMID:15221801 PMID:15234149 PMID:15241805 PMID:19405096 More... NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
JBrowse link
G STX6 syntaxin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr 1:180,972,725...181,022,870
Ensembl chr 1:180,972,712...181,023,121
JBrowse link
G SYP synaptophysin EXP CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr  X:49,187,815...49,200,193
Ensembl chr  X:49,187,815...49,200,218
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 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4A OMIM
ClinVar
PMID:3284607 PMID:12673792 PMID:12815591 PMID:14997940 PMID:18846690 More... NCBI chr15:68,206,992...68,257,215
Ensembl chr15:68,206,992...68,257,211
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 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 4:127,965,406...128,039,953
Ensembl chr 4:127,965,306...128,039,953
JBrowse link
G HSPA4L heat shock protein family A (Hsp70) member 4 like IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 4:127,781,796...127,840,733
Ensembl chr 4:127,781,821...127,840,733
JBrowse link
G INTU inturned planar cell polarity protein IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 4:127,622,953...127,726,737
Ensembl chr 4:127,623,271...127,726,737
JBrowse link
G LARP1B La ribonucleoprotein 1B IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 4:128,060,789...128,222,926
Ensembl chr 4:128,061,286...128,222,931
JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 IAGP ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 7
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7
ClinVar
OMIM
PMID:9536098 PMID:11941481 PMID:15074367 PMID:16199547 PMID:17564970 More... NCBI chr 4:127,917,732...127,965,963
Ensembl chr 4:127,917,799...127,966,034
JBrowse link
G PLK4 polo like kinase 4 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224
JBrowse link
G SLC25A31 solute carrier family 25 member 31 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 4:127,730,400...127,774,292
Ensembl chr 4:127,730,400...127,774,292
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 IAGP ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 8
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8
ClinVar
OMIM
PMID:2199011 PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 More... NCBI chr 8:1,753,059...1,786,570
Ensembl chr 8:1,755,778...1,801,711
JBrowse link
G CLN8-AS1 CLN8 antisense RNA 1 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 ClinVar NCBI chr 8:1,761,963...1,764,584
Ensembl chr 8:1,761,054...1,764,508
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 IAGP ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant
OMIM
ClinVar
PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 PMID:15074367 More... NCBI chr 8:1,753,059...1,786,570
Ensembl chr 8:1,755,778...1,801,711
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22373
    Nutritional and Metabolic Diseases 7470
      disease of metabolism 7470
        lipid metabolism disorder 1179
          lipid storage disease 676
            neuronal ceroid lipofuscinosis 205
              neuronal ceroid lipofuscinosis 1 11
              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 2
              neuronal ceroid lipofuscinosis 8 northern epilepsy variant 1
              neuronal ceroid lipofuscinosis 9 0
Path 2
Term Annotations click to browse term
  disease 22373
    Developmental Disease 16977
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 14781
        genetic disease 14133
          inherited metabolic disorder 5015
            lipid metabolism disorder 1179
              lipid storage disease 676
                neuronal ceroid lipofuscinosis 205
                  neuronal ceroid lipofuscinosis 1 11
                  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 2
                  neuronal ceroid lipofuscinosis 8 northern epilepsy variant 1
                  neuronal ceroid lipofuscinosis 9 0
paths to the root