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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: Amaurotic Idiocy, Adult Type;   Batten Mayou Disease;   Ceroid Lipofuscinosis, Neuronal 4;   Ceroid Storage Disease;   Ceroid Storage Diseases;   Infantile Neuronal Ceroid Lipofuscinosis;   Jansky Bielschowsky Disease;   Juvenile Cerebroretinal Degeneration;   Juvenile Cerebroretinal Degenerations;   Kuf Disease;   Kuf's Diseases;   Kuf's disease;   Kufs Disease Autosomal Recessive;   Kufs Type Neuronal Ceroid Lipofuscinosis;   Kufs disease;   Late-Infantile Neuronal Ceroid Lipofuscinosis;   Lipofuscin Storage Disease;   adult neuronal ceroid lipofuscinosis;   hereditary ceroid lipofuscinosis;   lipofuscin storage diseases;   neuronal ceroid lipofuscinoses;   neuronal ceroid lipofuscinosis, adult type
 narrow_synonym: Neuronal ceroid lipofuscinosis, 12
 primary_id: MESH:D009472
 alt_id: OMIA:001503;   OMIA:001552;   RDO:0003873
 xref: GARD:10739;   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:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,985,900...176,987,797
Ensembl chr 3:176,985,900...176,987,796
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 chr 3:175,548,181...175,552,943
Ensembl chr 3:175,548,174...175,552,947
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 1:214,534,217...214,607,497
Ensembl chr 1:214,534,284...214,606,169
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 1:170,387,625...170,411,263
Ensembl chr 1:170,387,609...170,404,056
JBrowse link
G Apobr apolipoprotein B receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:197,999,209...198,003,839
Ensembl chr 1:197,999,037...198,003,839
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 chr 3:176,475,847...176,490,642
Ensembl chr 3:176,475,893...176,489,925
JBrowse link
G Arfip2 ADP-ribosylation factor interacting protein 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,464,995...170,471,138
Ensembl chr 1:170,466,395...170,471,076
JBrowse link
G Arfrp1 ADP-ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,857,667...176,865,105
Ensembl chr 3:176,859,151...176,865,103
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 1:216,154,002...216,156,409
Ensembl chr 1:216,154,002...216,156,409
JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22022275 PMID:22847264 NCBI chr 5:159,512,208...159,531,631
Ensembl chr 5:159,512,285...159,531,637
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 chr 3:176,279,997...176,282,211
Ensembl chr 3:176,279,997...176,282,211
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 chr 3:176,438,335...176,443,864
Ensembl chr 3:176,439,199...176,443,195
JBrowse link
G Brsk2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,918,757...214,940,883
Ensembl chr 1:214,927,172...214,947,624
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 chr 3:175,630,266...175,644,994
Ensembl chr 3:175,631,881...175,644,988
JBrowse link
G Cavin3 caveolae associated protein 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,317,099...170,318,688
Ensembl chr 1:170,317,113...170,318,935
JBrowse link
G Cckbr cholecystokinin B receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,262,218...170,272,298
Ensembl chr 1:170,262,156...170,272,298
JBrowse link
G Cd151 CD151 molecule (Raph blood group) ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,446,659...214,450,668
Ensembl chr 1:214,009,784...214,013,765
Ensembl chr 1:214,009,784...214,013,765
JBrowse link
G Cd81 Cd81 molecule ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:216,237,663...216,253,460
Ensembl chr 1:216,237,697...216,253,311
JBrowse link
G Cdhr5 cadherin-related family member 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,255,118...214,263,848
Ensembl chr 1:214,255,110...214,263,581
JBrowse link
G Cdkn1c cyclin-dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:216,661,067...216,663,791
Ensembl chr 1:216,661,080...216,663,721
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 1:214,407,072...214,410,069
Ensembl chr 1:214,408,100...214,408,549
Ensembl chr 1:214,408,100...214,408,549
JBrowse link
G Chid1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,476,418...214,511,569
Ensembl chr 1:214,476,387...214,511,529
Ensembl chr 1:214,476,387...214,511,529
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
JBrowse link
G Clcn3 chloride voltage-gated channel 3 ISO RGD PMID:12059962 RGD:734783 NCBI chr16:32,448,821...32,520,649
Ensembl chr16:32,449,116...32,519,148
JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Lipofuscin storage disease
CTD
ClinVar
PMID:7553855 PMID:9311735 PMID:9450775 PMID:9536098 PMID:9618513 PMID:10332042 PMID:10749980 PMID:10924275 PMID:11339651 PMID:11589014 PMID:12189165 PMID:15818814 PMID:16291725 PMID:17475770 PMID:17576681 PMID:17868323 PMID:17947292 PMID:18414213 PMID:19132115 PMID:19489875 PMID:20187884 PMID:21228398 PMID:21499717 PMID:21990111 PMID:22013180 PMID:22545070 PMID:22748208 PMID:23374165 PMID:23539563 PMID:23847139 PMID:24154662 PMID:24271013 PMID:25525159 PMID:25741868 PMID:25976102 PMID:26467025 PMID:26633542 PMID:26766544 PMID:27533158 PMID:27843123 PMID:28041643 PMID:28492532 PMID:28542676 PMID:28559085 PMID:29343940 PMID:30446867 PMID:30769084 PMID:31568712 PMID:32441891 NCBI chr 1:197,986,384...197,999,726
Ensembl chr 1:197,986,385...197,997,664
JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Adult neuronal ceroid lipofuscinosis
ClinVar PMID:9536098 PMID:9662406 PMID:10953198 PMID:11971870 PMID:12134079 PMID:15728307 PMID:16814585 PMID:17576681 PMID:18414213 PMID:19201763 PMID:19309691 PMID:19383612 PMID:20052765 PMID:20157158 PMID:20301601 PMID:20960652 PMID:21990111 PMID:22532218 PMID:22727047 PMID:23374165 PMID:24038957 PMID:24058541 PMID:24767253 PMID:25741868 PMID:25976102 PMID:26342652 PMID:26467025 PMID:26990548 PMID:27069701 PMID:27149842 PMID:27533158 PMID:27884173 PMID:28492532 PMID:29482223 PMID:30037983 PMID:30078242 PMID:30264640 PMID:30919163 PMID:31105743 NCBI chr15:93,634,815...93,644,146 JBrowse link
G Cln6 CLN6, transmembrane ER protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
DNA:mutations: :
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:204300
ClinVar
CTD
PMID:3284607 PMID:11727201 PMID:11791207 PMID:12673792 PMID:12815591 PMID:14997940 PMID:15265688 PMID:17046213 PMID:17988881 PMID:18684116 PMID:18811591 PMID:18846690 PMID:19135028 PMID:20430023 PMID:21359198 PMID:21549341 PMID:21990111 PMID:22883287 PMID:23789114 PMID:24102492 PMID:24215330 PMID:25359263 PMID:25401298 PMID:25741868 PMID:26075876 PMID:26115733 PMID:26206375 PMID:26374131 PMID:26467025 PMID:27535533 PMID:27903347 PMID:28492532 PMID:28587997 PMID:28831385 PMID:30019023 PMID:30285654 PMID:30561534 PMID:31489614, PMID:11791207, PMID:21549341, PMID:11791207 RGD:1358512, RGD:11064442, RGD:1358512 NCBI chr 8:67,733,215...67,748,170
Ensembl chr 8:67,733,215...67,748,172
JBrowse link
G Cln8 CLN8, transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:2199011 PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 PMID:15074367 PMID:15160397 PMID:16828266 PMID:19807737 PMID:21990111 PMID:22220808 PMID:23374165 PMID:25326637 PMID:25741868 PMID:25976102 PMID:26075876 PMID:26467025 PMID:26657971 PMID:27884173 PMID:28116333 PMID:28454995 PMID:28492532 PMID:29503925 PMID:30741402 NCBI chr16:79,828,321...79,838,212
Ensembl chr16:79,828,324...79,838,212
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 1:170,238,959...170,246,858
Ensembl chr 1:170,242,846...170,246,858
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 chr 3:176,491,292...176,526,009
Ensembl chr 3:176,494,768...176,526,018
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 chr 3:176,102,287...176,124,839
Ensembl chr 3:176,102,351...176,124,306
JBrowse link
G Cracr2b calcium release activated channel regulator 2B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,439,810...214,445,876
Ensembl chr 1:214,440,503...214,445,874
Ensembl chr 1:214,440,503...214,445,874
JBrowse link
G Ctsd cathepsin D ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9536098 PMID:16670177 PMID:17576681 PMID:18762956 PMID:24767253 PMID:25741868 PMID:26059544 PMID:26467025 PMID:28492532 NCBI chr 1:215,541,570...215,553,446
Ensembl chr 1:215,541,542...215,553,451
JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,283,787...214,317,466
Ensembl chr 1:214,283,790...214,317,466
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 chr 3:176,162,886...176,216,868
Ensembl chr 3:176,162,886...176,197,753
JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25741868 PMID:25921748 PMID:26467025 PMID:28492532 PMID:30866059 NCBI chr 3:177,012,714...177,047,787
Ensembl chr 3:177,013,604...177,043,902
JBrowse link
G Dnhd1 dynein heavy chain domain 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,473,792...170,570,220
Ensembl chr 1:170,471,272...170,565,063
JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,278,296...214,282,818
Ensembl chr 1:214,278,296...214,281,483
JBrowse link
G Dusp8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:215,030,429...215,043,111
Ensembl chr 1:215,030,429...215,033,460
JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,657,104...176,666,282
Ensembl chr 3:176,657,107...176,666,282
JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,327,992...214,353,466
Ensembl chr 1:214,328,071...214,353,461
JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Adult neuronal ceroid lipofuscinosis
ClinVar PMID:9536098 PMID:9662406 PMID:10953198 PMID:11971870 PMID:12134079 PMID:15728307 PMID:16814585 PMID:17576681 PMID:18414213 PMID:19201763 PMID:19309691 PMID:19383612 PMID:20052765 PMID:20157158 PMID:20301601 PMID:20960652 PMID:21990111 PMID:22532218 PMID:22727047 PMID:23374165 PMID:24038957 PMID:24058541 PMID:24767253 PMID:25741868 PMID:25976102 PMID:26342652 PMID:26467025 PMID:27149842 PMID:28492532 PMID:30037983 PMID:30078242 PMID:30264640 PMID:30919163 PMID:31105743 NCBI chr15:93,647,307...93,667,395
Ensembl chr15:93,647,310...93,667,395
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 1:170,216,505...170,238,898
Ensembl chr 1:170,212,817...170,238,890
JBrowse link
G Fndc11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,721,100...176,724,736
Ensembl chr 3:176,721,827...176,725,837
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 chr 3:175,701,278...175,709,465
Ensembl chr 3:175,701,280...175,709,465
JBrowse link
G Gatd1 glutamine amidotransferase like class 1 domain containing 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,389,006...214,394,451
Ensembl chr 1:214,389,255...214,394,411
Ensembl chr 1:214,389,255...214,394,411
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 chr 3:176,217,128...176,223,645
Ensembl chr 3:176,217,128...176,223,645
JBrowse link
G Gmeb2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,756,006...176,791,960
Ensembl chr 3:176,753,860...176,791,960
JBrowse link
G Helz2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,730,024...176,744,382
Ensembl chr 3:176,731,769...176,744,377
JBrowse link
G Hpx hemopexin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,423,558...170,431,066
Ensembl chr 1:170,423,483...170,431,073
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO protein:increased expression:brain RGD PMID:21094208 RGD:5686293 NCBI chr 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
JBrowse link
G Ifitm10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:215,521,604...215,538,283
Ensembl chr 1:215,515,764...215,536,980
JBrowse link
G Igf2 insulin-like growth factor 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Il27 interleukin 27 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:198,003,615...198,010,112
Ensembl chr 1:198,003,683...198,008,893
JBrowse link
G Ilk integrin-linked kinase ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,578,941...170,585,192
Ensembl chr 1:170,578,889...170,585,189
JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347
JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,249,388...214,252,909
Ensembl chr 1:214,248,837...214,252,456
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 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
JBrowse link
G Krtap5-1 keratin associated protein 5-1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:215,126,994...215,127,583 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 chr 3:175,553,042...175,601,112
Ensembl chr 3:175,553,045...175,601,127
JBrowse link
G Lime1 Lck interacting transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,881,881...176,888,230
Ensembl chr 3:176,882,027...176,884,350
JBrowse link
G Lmntd2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,197,126...214,202,828
Ensembl chr 1:214,196,430...214,202,853
JBrowse link
G LOC686660 similar to olfactory receptor 692 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,205,323...170,206,774
Ensembl chr 1:170,205,591...170,206,460
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
JBrowse link
G Lsp1 lymphocyte-specific protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:215,628,750...215,662,505
Ensembl chr 1:215,628,785...215,662,504
JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar PMID:17564970 PMID:18414213 PMID:19177532 PMID:19201763 PMID:21990111 PMID:24033266 PMID:25227500 PMID:25439737 PMID:25741868 PMID:26467025 PMID:26681805 PMID:28224992 PMID:28492532 PMID:28586915 PMID:28600779 PMID:33546218 NCBI chr 2:127,706,618...127,784,129
Ensembl chr 2:127,699,761...127,781,003
JBrowse link
G Mir1b microRNA 1b ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:175,769,716...175,769,800
Ensembl chr 3:175,769,716...175,769,800
JBrowse link
G Mir210 microRNA 210 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,208,355...214,208,464 JBrowse link
G Mob2 MOB kinase activator 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,953,992...214,962,106
Ensembl chr 1:214,954,553...214,971,929
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 chr 3:175,924,456...175,927,925
Ensembl chr 3:176,087,700...176,090,268
Ensembl chr 3:176,087,700...176,090,268
JBrowse link
G Mrpl23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:215,701,544...215,709,313
Ensembl chr 1:215,701,544...215,709,313
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,663,929...214,693,197 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,725,482...214,756,653 JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,778,459...214,811,237
Ensembl chr 1:214,778,496...214,810,720
JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,608,453...214,630,524
Ensembl chr 1:214,608,704...214,629,938
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 chr 3:176,444,545...176,465,197
Ensembl chr 3:176,444,544...176,465,162
JBrowse link
G Ntsr1 neurotensin receptor 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:175,982,313...176,046,345
Ensembl chr 3:175,885,894...176,046,345
JBrowse link
G Nupr1 nuclear protein 1, transcriptional regulator ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:194,767,484...194,769,519
Ensembl chr 1:194,767,474...194,769,524
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 chr 3:176,093,662...176,099,949
Ensembl chr 3:175,930,505...176,099,987
JBrowse link
G Olr158 olfactory receptor 158 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:169,636,914...169,637,873
Ensembl chr 1:169,636,914...169,637,873
JBrowse link
G Olr163 olfactory receptor 163 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:169,698,323...169,699,288
Ensembl chr 1:169,698,323...169,699,288
JBrowse link
G Olr170 olfactory receptor 170 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532
G Olr172 olfactory receptor 172 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532
G Olr184 olfactory receptor 184 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:169,902,961...169,903,914
Ensembl chr 1:169,902,961...169,903,914
JBrowse link
G Olr188 olfactory receptor 188 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:169,944,609...169,945,547
Ensembl chr 1:169,944,609...169,945,547
JBrowse link
G Olr190 olfactory receptor 190 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:169,966,190...169,967,137
Ensembl chr 1:169,966,190...169,967,137
JBrowse link
G Olr193 olfactory receptor 193 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,004,634...170,005,597
Ensembl chr 1:169,990,693...170,005,597
JBrowse link
G Olr194 olfactory receptor 194 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,033,942...170,034,892
Ensembl chr 1:170,033,942...170,034,892
JBrowse link
G Olr197 olfactory receptor 197 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,091,109...170,092,062
Ensembl chr 1:170,091,109...170,092,062
JBrowse link
G Olr198 olfactory receptor 198 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,109,291...170,110,256
Ensembl chr 1:170,109,291...170,110,256
JBrowse link
G Olr202 olfactory receptor 202 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,185,494...170,186,462
Ensembl chr 1:170,185,494...170,186,462
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 chr 3:175,493,650...175,538,965
Ensembl chr 3:175,493,698...175,538,963
JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,215,673...214,248,906
Ensembl chr 1:214,215,992...214,248,901
JBrowse link
G Pidd1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,418,751...214,423,959
Ensembl chr 1:214,419,240...214,423,881
Ensembl chr 1:214,419,240...214,423,881
JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,434,638...214,439,720
Ensembl chr 1:214,434,626...214,439,720
Ensembl chr 1:214,434,626...214,439,720
JBrowse link
G Polr2l RNA polymerase II, I and III subunit L ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,451,966...214,453,974 JBrowse link
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,690,507...176,692,272
Ensembl chr 3:176,691,329...176,692,271
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 PMID:9733046 PMID:10191107 PMID:10477428 PMID:10649502 PMID:10679943 PMID:10781062 PMID:11001811 PMID:11073228 PMID:11332767 PMID:11440996 PMID:11506414 PMID:11589012 PMID:12382155 PMID:15965709 PMID:16759889 PMID:17261688 PMID:17565660 PMID:19302939 PMID:19793312 PMID:19941651 PMID:21228398 PMID:21990111 PMID:23374165 PMID:23539563 PMID:23772246 PMID:24082928 PMID:24997880 PMID:25205113 PMID:25525159 PMID:25574475 PMID:25741868 PMID:26467025 PMID:26707855 PMID:26795593 PMID:28492532 PMID:28878621 PMID:29631617 NCBI chr 5:140,538,260...140,558,163
Ensembl chr 5:140,538,260...140,558,162
JBrowse link
G Ppt2 palmitoyl-protein thioesterase 2 ISO
ISS
MouseDO PMID:11717424 RGD:734785 NCBI chr20:4,381,455...4,401,638
Ensembl chr20:4,381,455...4,401,610
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 chr 3:177,098,137...177,162,937
Ensembl chr 3:177,098,073...177,162,916
JBrowse link
G Ptk6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,698,305...176,706,896
Ensembl chr 3:176,698,305...176,706,896
JBrowse link
G Rassf7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,202,722...214,205,799
Ensembl chr 1:214,203,861...214,205,782
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 chr 3:175,646,786...175,661,377
Ensembl chr 3:175,645,281...175,654,707
JBrowse link
G RGD1561034 similar to hypothetical protein MGC34805 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,212,817...170,216,387
Ensembl chr 1:170,212,817...170,216,518
JBrowse link
G Rplp2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,428,280...214,430,551
Ensembl chr 1:214,428,526...214,430,515
Ensembl chr 1:214,428,526...214,430,515
JBrowse link
G Rps21-ps1 ribosomal protein S21, pseudogene 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 5:159,606,647...159,606,990 JBrowse link
G Rrp8 ribosomal RNA processing 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,574,670...170,578,693
Ensembl chr 1:170,574,349...170,579,616
JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,818,012...176,856,531
Ensembl chr 3:176,818,437...176,856,531
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 chr 3:177,091,467...177,095,599
Ensembl chr 3:177,091,457...177,095,597
JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,264,865...214,277,437
Ensembl chr 1:214,264,754...214,265,668
JBrowse link
G Sgf29 SAGA complex associated factor 29 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:198,066,974...198,100,494
Ensembl chr 1:198,067,066...198,100,493
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 chr 3:176,228,433...176,246,971
Ensembl chr 3:176,230,378...176,246,953
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,410,388...214,418,236
Ensembl chr 1:214,410,417...214,414,897
Ensembl chr 1:214,410,417...214,414,897
JBrowse link
G Slc2a4rg SLC2A4 regulator ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059
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 chr 3:175,838,994...175,857,985
Ensembl chr 3:175,838,994...175,857,983
JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,383,682...170,387,525
Ensembl chr 1:170,383,682...170,387,524
JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:12946273 RGD:1581253 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,709,742...176,716,146
Ensembl chr 3:176,709,743...176,716,146
JBrowse link
G Stmn3 stathmin 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,808,016...176,816,108
Ensembl chr 3:176,808,017...176,816,162
JBrowse link
G Syt8 synaptotagmin 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:215,605,408...215,607,602
Ensembl chr 1:215,605,404...215,607,696
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 1:170,585,160...170,586,428
Ensembl chr 1:170,585,167...170,586,603
JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,375,555...214,385,886
Ensembl chr 1:214,375,515...214,385,885
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 chr 3:176,124,846...176,144,531
Ensembl chr 3:176,125,482...176,144,531
JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
G Timm10b translocase of inner mitochondrial membrane 10B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,471,265...170,474,111
Ensembl chr 1:170,471,238...170,474,113
JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,317,300...214,326,293
Ensembl chr 1:214,317,682...214,326,294
JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:215,609,110...215,611,652
Ensembl chr 1:215,609,036...215,611,658
JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:215,666,628...215,683,628
Ensembl chr 1:215,666,628...215,683,628
JBrowse link
G Tollip toll interacting protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,823,993...214,844,861
Ensembl chr 1:214,823,978...214,844,858
JBrowse link
G Tpd52l2 TPD52 like 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,989,333...177,009,425
Ensembl chr 3:176,989,672...177,008,419
JBrowse link
G Tpp1 tripeptidyl peptidase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
CTD
ClinVar
PMID:9295267 PMID:9788728 PMID:10320038 PMID:10330339 PMID:10356316 PMID:10665500 PMID:11017954 PMID:11054422 PMID:11071145 PMID:11339651 PMID:11462245 PMID:11589009 PMID:12125808 PMID:12376936 PMID:12414822 PMID:12488460 PMID:12698559 PMID:12796825 PMID:12950156 PMID:14736728 PMID:15317752 PMID:15520412 PMID:16782851 PMID:16814585 PMID:17679671 PMID:17959406 PMID:18283468 PMID:18414213 PMID:18473686 PMID:18684116 PMID:19038966 PMID:19038967 PMID:19201763 PMID:19246452 PMID:19793312 PMID:20340139 PMID:21990111 PMID:22245569 PMID:22612257 PMID:22832778 PMID:23266810 PMID:23418007 PMID:23539563 PMID:24033266 PMID:24091540 PMID:24767253 PMID:25326635 PMID:25356970 PMID:25525159 PMID:25741868 PMID:25976102 PMID:26026925 PMID:26075876 PMID:26224725 PMID:26467025 PMID:26795593 PMID:27407112 PMID:27553520 PMID:27776828 PMID:28335910 PMID:28464005 PMID:28492532 PMID:28717666 PMID:29056246 PMID:30541466 PMID:30792901 PMID:31283065 NCBI chr 1:170,588,036...170,594,159
Ensembl chr 1:170,588,035...170,594,168
JBrowse link
G Trim3 tripartite motif-containing 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:170,441,662...170,464,341
Ensembl chr 1:170,441,639...170,464,341
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 1:216,256,653...216,281,504
Ensembl chr 1:216,257,820...216,274,930
JBrowse link
G Tspan32 tetraspanin 32 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:216,189,535...216,206,202
Ensembl chr 1:216,191,886...216,206,200
JBrowse link
G Tspan4 tetraspanin 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:214,454,090...214,473,789
Ensembl chr 1:214,454,090...214,473,741
Ensembl chr 1:214,454,090...214,473,741
JBrowse link
G Tssc4 tumor suppressing subtransferable candidate 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr 1:216,253,786...216,256,610
Ensembl chr 1:216,254,979...216,256,608
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 chr 3:177,066,022...177,078,611
Ensembl chr 3:177,066,014...177,078,594
JBrowse link
G Ythdf1 YTH N(6)-methyladenosine RNA binding protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,415,911...176,431,423
Ensembl chr 3:176,415,914...176,431,423
JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,888,502...176,959,009
Ensembl chr 3:176,890,806...176,958,880
JBrowse link
G Zfp512b zinc finger protein 512B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:177,078,708...177,089,210
Ensembl chr 3:177,078,709...177,089,199
JBrowse link
G Zgpat zinc finger CCCH-type and G-patch domain containing ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 3:176,865,078...176,881,603
Ensembl chr 3:176,865,156...176,881,549
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 chr12:22,750,485...22,765,324
Ensembl chr12:22,750,485...22,765,308
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
JBrowse link
G Mfn1 mitofusin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr 2:118,929,738...118,971,689
Ensembl chr 2:118,929,738...118,973,698
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1
ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 1, VARIABLE AGE AT ONSET
ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:256730
OMIM
ClinVar
CTD
PMID:2538469 PMID:7637805 PMID:9425237 PMID:9536098 PMID:9571187 PMID:9664077 PMID:9733046 PMID:9793631 PMID:10191107 PMID:10191109 PMID:10416973 PMID:10477428 PMID:10649502 PMID:10679943 PMID:10781062 PMID:11001811 PMID:11073228 PMID:11332767 PMID:11440996 PMID:11506414 PMID:11520175 PMID:11589012 PMID:12125808 PMID:12382155 PMID:12796825 PMID:12855696 PMID:14997939 PMID:15464427 PMID:15965709 PMID:16759889 PMID:17044973 PMID:17261688 PMID:17565660 PMID:17576681 PMID:18414213 PMID:19302939 PMID:19440452 PMID:19793312 PMID:19793631 PMID:19941651 PMID:21224254 PMID:21228398 PMID:21499717 PMID:21704547 PMID:21990111 PMID:22387303 PMID:23374165 PMID:23539563 PMID:23772246 PMID:23857568 PMID:24033266 PMID:24082928 PMID:24997880 PMID:25205113 PMID:25525159 PMID:25574475 PMID:25741868 PMID:26075876 PMID:26275418 PMID:26467025 PMID:26510000 PMID:26707855 PMID:26795593 PMID:27722792 PMID:28492532 PMID:28559085 PMID:28878621 PMID:29631617 PMID:29655203 PMID:30541466, PMID:11717424 RGD:734785 NCBI chr 5:140,538,260...140,558,163
Ensembl chr 5:140,538,260...140,558,162
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr10:73,824,200...73,865,503
Ensembl chr10:73,824,202...73,865,364
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Syp synaptophysin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr  X:15,694,699...15,709,244
Ensembl chr  X:15,695,566...15,707,436
JBrowse link
G Tfam transcription factor A, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
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
ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 10
ClinVar Annotator: match by OMIM:610127
OMIM
ClinVar
PMID:10218883 PMID:16670177 PMID:16685649 PMID:24767253 PMID:25298308 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:215,541,570...215,553,446
Ensembl chr 1:215,541,542...215,553,451
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: Ceroid lipofuscinosis, neuronal, 11 OMIM
ClinVar
PMID:17698705 PMID:18245784 PMID:18392865 PMID:18723524 PMID:20142524 PMID:20522652 PMID:22312439 PMID:22608501 PMID:23117491 PMID:25525159 PMID:25546130 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29614680 PMID:30279455 PMID:30528841 PMID:31122931 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
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: Ceroid lipofuscinosis, neuronal, 13
ClinVar Annotator: match by OMIM:615362
OMIM
ClinVar
PMID:17828264 PMID:23297359 PMID:25274848 PMID:25741868 PMID:26467025 PMID:27120077 PMID:28492532 NCBI chr 1:220,114,228...220,119,976
Ensembl chr 1:220,114,228...220,119,976
JBrowse link
neuronal ceroid lipofuscinosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpp1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 2
ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 2
ClinVar Annotator: match by OMIM:204500
OMIM
ClinVar
PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:10356316 PMID:10477428 PMID:10665500 PMID:10862088 PMID:11017954 PMID:11054422 PMID:11071145 PMID:11339651 PMID:11462245 PMID:11589012 PMID:11589013 PMID:12125808 PMID:12376936 PMID:12414822 PMID:12488460 PMID:12698559 PMID:12796825 PMID:12950156 PMID:14736728 PMID:15317752 PMID:15520412 PMID:16782851 PMID:16814585 PMID:16880378 PMID:17576681 PMID:17679671 PMID:17959406 PMID:18283468 PMID:18411270 PMID:18414213 PMID:18473686 PMID:18684116 PMID:19038966 PMID:19038967 PMID:19201763 PMID:19246452 PMID:19793312 PMID:20340139 PMID:20820830 PMID:21990111 PMID:22221116 PMID:22245569 PMID:22612257 PMID:22752289 PMID:22832778 PMID:23266810 PMID:23374165 PMID:23418007 PMID:23539563 PMID:24033266 PMID:24091540 PMID:24767253 PMID:25326635 PMID:25356970 PMID:25525159 PMID:25741868 PMID:25976102 PMID:26026925 PMID:26032578 PMID:26075876 PMID:26224725 PMID:26467025 PMID:26633542 PMID:26795593 PMID:27407112 PMID:27553520 PMID:27776828 PMID:28335910 PMID:28464005 PMID:28492532 PMID:28554332 PMID:28717666 PMID:29056246 PMID:29924869 PMID:30541466 PMID:30792901 PMID:31059981 PMID:31283065 NCBI chr 1:170,588,036...170,594,159
Ensembl chr 1:170,588,035...170,594,168
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 chr16:32,448,821...32,520,649
Ensembl chr16:32,449,116...32,519,148
JBrowse link
G Clcn6 chloride voltage-gated channel 6 ISS OMIM:204200 MouseDO NCBI chr 5:164,811,815...164,844,554
Ensembl chr 5:164,811,816...164,844,586
JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 3
ClinVar Annotator: match by term: Spielmeyer Sjogren disease
ClinVar Annotator: match by term: Juvenile neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 3, protracted
OMIM
ClinVar
PMID:7553855 PMID:7887420 PMID:9004140 PMID:9311735 PMID:9392580 PMID:9450775 PMID:9536098 PMID:9618513 PMID:9932957 PMID:10332042 PMID:10749980 PMID:10924275 PMID:11339651 PMID:11589014 PMID:12189165 PMID:14699076 PMID:16291725 PMID:17475770 PMID:17576681 PMID:17868323 PMID:17947292 PMID:18414213 PMID:19132115 PMID:19489875 PMID:20187884 PMID:21228398 PMID:21499717 PMID:21990111 PMID:22013180 PMID:22545070 PMID:22748208 PMID:23374165 PMID:23539563 PMID:23847139 PMID:24154662 PMID:24271013 PMID:24827497 PMID:25525159 PMID:25741868 PMID:25976102 PMID:26467025 PMID:26633542 PMID:26766544 PMID:27843123 PMID:28041643 PMID:28492532 PMID:28542676 PMID:28559085 PMID:29343940 PMID:30769084 PMID:31568712 PMID:32441891 NCBI chr 1:197,986,384...197,999,726
Ensembl chr 1:197,986,385...197,997,664
JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISS OMIM:204200 MouseDO NCBI chr 5:140,538,260...140,558,163
Ensembl chr 5:140,538,260...140,558,162
JBrowse link
neuronal ceroid lipofuscinosis 4A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cln6 CLN6, transmembrane ER protein ISO OMIM NCBI chr 8:67,733,215...67,748,170
Ensembl chr 8:67,733,215...67,748,172
JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE ClinVar PMID:10338095 PMID:11727201 PMID:12673792 PMID:15986423 PMID:20301601 PMID:24156116 PMID:25741868 PMID:28492532 PMID:31761138 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
neuronal ceroid lipofuscinosis 4B 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: Neuronal ceroid lipofuscinosis 4B
ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 4B autosomal dominant
OMIM
ClinVar
PMID:11489285 PMID:12112194 PMID:21820099 PMID:22073189 PMID:22235333 PMID:22978711 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:177,012,714...177,047,787
Ensembl chr 3:177,013,604...177,043,902
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 OMIM:256731
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 5
ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 5
ClinVar
OMIM
PMID:9662406 PMID:10953198 PMID:11971870 PMID:12134079 PMID:15207259 PMID:15349861 PMID:15728307 PMID:16814585 PMID:18414213 PMID:18684116 PMID:19201763 PMID:19309691 PMID:19383612 PMID:20052765 PMID:20157158 PMID:20301601 PMID:20960652 PMID:21990111 PMID:22532218 PMID:22727047 PMID:23160995 PMID:23374165 PMID:24038957 PMID:24058541 PMID:24767253 PMID:25359263 PMID:25741868 PMID:25976102 PMID:26342652 PMID:26467025 PMID:26990548 PMID:27069701 PMID:27149842 PMID:27533158 PMID:27884173 PMID:28492532 PMID:29482223 PMID:30037983 PMID:30078242 PMID:30264640 PMID:30919163 PMID:31105743 PMID:31319225 NCBI chr15:93,634,815...93,644,146 JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 5
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 5
ClinVar PMID:9662406 PMID:10953198 PMID:11971870 PMID:12134079 PMID:15349861 PMID:15728307 PMID:16814585 PMID:18414213 PMID:18684116 PMID:19201763 PMID:19309691 PMID:19383612 PMID:20052765 PMID:20157158 PMID:20301601 PMID:20960652 PMID:21990111 PMID:22532218 PMID:22727047 PMID:23160995 PMID:23374165 PMID:24038957 PMID:24058541 PMID:24767253 PMID:25359263 PMID:25741868 PMID:25976102 PMID:26342652 PMID:26467025 PMID:27149842 PMID:28492532 PMID:30037983 PMID:30078242 PMID:30264640 PMID:30919163 PMID:31105743 PMID:31319225 NCBI chr15:93,647,307...93,667,395
Ensembl chr15:93,647,310...93,667,395
JBrowse link
neuronal ceroid lipofuscinosis 6 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: Neuronal ceroid lipofuscinosis 6
ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 6
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:601780
OMIM
ClinVar
CTD
PMID:11727201 PMID:11791207 PMID:12673792 PMID:12815591 PMID:15265688 PMID:15996215 PMID:17453415 PMID:18414213 PMID:18684116 PMID:18846690 PMID:19135028 PMID:19201763 PMID:21359198 PMID:21549341 PMID:21990111 PMID:23516525 PMID:23735787 PMID:25359263 PMID:25401298 PMID:25590979 PMID:25741868 PMID:26075876 PMID:26206375 PMID:26374131 PMID:26467025 PMID:27903347 PMID:28492532 PMID:28587997 PMID:28831385 PMID:30019023 PMID:30285654 PMID:30561534 NCBI chr 8:67,733,215...67,748,170
Ensembl chr 8:67,733,215...67,748,172
JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6 ClinVar PMID:10338095 PMID:11727201 PMID:12673792 PMID:15986423 PMID:20301601 PMID:24156116 PMID:25741868 PMID:28492532 PMID:31761138 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6 ClinVar PMID:12369017 PMID:15221801 PMID:15234149 PMID:15241805 PMID:19405096 PMID:23252888 PMID:23430884 PMID:24767253 PMID:25741868 PMID:28492532 NCBI chr 1:170,383,682...170,387,525
Ensembl chr 1:170,383,682...170,387,524
JBrowse link
G Stx6 syntaxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr13:72,804,218...72,850,757
Ensembl chr13:72,804,218...72,852,967
JBrowse link
G Syp synaptophysin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr  X:15,694,699...15,709,244
Ensembl chr  X:15,695,566...15,707,436
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: Ceroid lipofuscinosis neuronal 7
ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7
ClinVar PMID:28492532 NCBI chr 2:127,770,588...127,828,218
Ensembl chr 2:127,770,676...127,827,800
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:28492532 NCBI chr 2:127,625,737...127,682,864
Ensembl chr 2:127,625,683...127,677,503
JBrowse link
G Intu inturned planar cell polarity protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:28492532 NCBI chr 2:127,459,089...127,521,327
Ensembl chr 2:127,459,012...127,525,437
JBrowse link
G Larp1b La ribonucleoprotein 1B ISO ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 7 ClinVar PMID:28492532 NCBI chr 2:127,845,034...127,876,793
Ensembl chr 2:127,845,034...127,876,793
JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7
ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 7
ClinVar Annotator: match by OMIM:610951
OMIM
ClinVar
PMID:9536098 PMID:15074367 PMID:17564970 PMID:17576681 PMID:18414213 PMID:18850119 PMID:19177532 PMID:19201763 PMID:19277732 PMID:20826447 PMID:21990111 PMID:22668694 PMID:24033266 PMID:25227500 PMID:25333361 PMID:25439737 PMID:25741868 PMID:25976102 PMID:26467025 PMID:26681805 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28586915 PMID:28600779 PMID:28708303 PMID:29389947 PMID:29924869 PMID:31597037 PMID:33546218 NCBI chr 2:127,706,618...127,784,129
Ensembl chr 2:127,699,761...127,781,003
JBrowse link
G Plk4 polo-like kinase 4 ISO ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 7 ClinVar PMID:28492532 NCBI chr 2:127,686,911...127,705,518
Ensembl chr 2:127,686,925...127,705,518
JBrowse link
G Slc25a31 solute carrier family 25 member 31 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:28492532 NCBI chr 2:127,538,323...127,554,276
Ensembl chr 2:127,538,659...127,554,307
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
ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 8
ClinVar Annotator: match by OMIM:600143
OMIM
ClinVar
PMID:2199011 PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 PMID:15074367 PMID:15160397 PMID:16570191 PMID:16828266 PMID:19201763 PMID:19431184 PMID:19807737 PMID:21990111 PMID:22220808 PMID:23374165 PMID:25326637 PMID:25741868 PMID:25976102 PMID:26075876 PMID:26467025 PMID:27884173 PMID:28116333 PMID:28454995 PMID:28492532 PMID:29503925 PMID:30741402 NCBI chr16:79,828,321...79,838,212
Ensembl chr16:79,828,324...79,838,212
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: Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant OMIM
ClinVar
PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 PMID:15074367 PMID:15160397 PMID:16828266 PMID:19807737 PMID:21990111 PMID:23374165 PMID:25326637 PMID:25741868 PMID:27884173 PMID:28492532 NCBI chr16:79,828,321...79,838,212
Ensembl chr16:79,828,324...79,838,212
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        lipid metabolism disorder 925
          lipid storage disease 518
            neuronal ceroid lipofuscinosis 167
              neuronal ceroid lipofuscinosis 1 10
              neuronal ceroid lipofuscinosis 10 1
              neuronal ceroid lipofuscinosis 11 1
              neuronal ceroid lipofuscinosis 13 1
              neuronal ceroid lipofuscinosis 2 1
              neuronal ceroid lipofuscinosis 3 4
              neuronal ceroid lipofuscinosis 4A 2
              neuronal ceroid lipofuscinosis 4B 1
              neuronal ceroid lipofuscinosis 5 2
              neuronal ceroid lipofuscinosis 6 8
              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 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          inherited metabolic disorder 2355
            lipid metabolism disorder 925
              lipid storage disease 518
                neuronal ceroid lipofuscinosis 167
                  neuronal ceroid lipofuscinosis 1 10
                  neuronal ceroid lipofuscinosis 10 1
                  neuronal ceroid lipofuscinosis 11 1
                  neuronal ceroid lipofuscinosis 13 1
                  neuronal ceroid lipofuscinosis 2 1
                  neuronal ceroid lipofuscinosis 3 4
                  neuronal ceroid lipofuscinosis 4A 2
                  neuronal ceroid lipofuscinosis 4B 1
                  neuronal ceroid lipofuscinosis 5 2
                  neuronal ceroid lipofuscinosis 6 8
                  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