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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:Niemann-Pick disease type C1
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Accession:DOID:0070113 term browser browse the term
Definition:A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2. (DO)
Synonyms:exact_synonym: NPC1;   Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia;   Niemann Pick Disease, Chronic Neuronopathic Form;   Niemann Pick disease, Subacute Juvenile Form;   Niemann-Pick disease type C1, adult form;   Niemann-Pick disease type C1, juvenile form;   Niemann-Pick disease with cholesterol esterification block;   Niemann-Pick disease without sphingomyelinase deficiency
 narrow_synonym: NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA NIEMANN-PICK DISEASE, TYPE D
 broad_synonym: NPC;   NPC1-RELATED CONDITION;   Niemann-Pick disease, type C;   Niemann-Pick's disease type C
 primary_id: MESH:D052556
 alt_id: MIM:257220
 xref: GARD:7207;   NCI:C126864

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Niemann-Pick disease type C1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd3 abhydrolase domain containing 3, phospholipase ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chrNW_004955402:10,316,881...10,355,760
Ensembl chrNW_004955402:10,316,297...10,356,052 		JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase treatment ISO RGD PMID:18591368 RGD:10047095 NCBI chrNW_004955513:652,048...799,182
Ensembl chrNW_004955513:653,252...799,239 		JBrowse link
G Acyp1 acylphosphatase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:23352160 PMID:23773996 PMID:24386122 PMID:24767253 PMID:25741868 More... NCBI chrNW_004955523:499,508...507,809
Ensembl chrNW_004955523:499,508...508,273 		JBrowse link
G Ankrd29 ankyrin repeat domain 29 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chrNW_004955402:11,751,417...11,775,499 JBrowse link
G Cables1 Cdk5 and Abl enzyme substrate 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chrNW_004955402:11,415,913...11,514,132
Ensembl chrNW_004955402:11,414,271...11,513,030 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: NIEMANN-PICK DISEASE, CHRONIC NEURONOPATHIC FORM ClinVar PMID:25326637 PMID:28492532 NCBI chrNW_004955403:9,562,401...9,703,828
Ensembl chrNW_004955403:9,562,401...9,703,828 		JBrowse link
G Esco1 establishment of sister chromatid cohesion N-acetyltransferase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chrNW_004955402:10,207,621...10,257,363
Ensembl chrNW_004955402:10,207,527...10,262,995 		JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chrNW_004955402:9,865,934...10,204,990
Ensembl chrNW_004955402:10,104,225...10,201,479 		JBrowse link
G Jak2 Janus kinase 2 treatment ISO RGD PMID:21176403 RGD:10403054 NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208 		JBrowse link
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chrNW_004955402:11,980,980...12,362,143 JBrowse link
G Lipa lipase A, lysosomal acid type ISO CTD Direct Evidence: therapeutic CTD PMID:20557099 NCBI chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142 		JBrowse link
G Mib1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chrNW_004955402:10,392,308...10,502,576
Ensembl chrNW_004955402:10,392,308...10,502,576 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form
ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Niemann-Pick disease, subacute juvenile form | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form		 OMIM
ClinVar		 PMID:3165081 PMID:3378364 PMID:4795418 PMID:5465421 PMID:9211849 More... NCBI chrNW_004955402:11,699,434...11,742,899
Ensembl chrNW_004955402:11,699,434...11,742,899 		JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:11125141 PMID:11333381 PMID:11567215 PMID:12955717 PMID:15465422 More... NCBI chrNW_004955523:1,010,976...1,021,048
Ensembl chrNW_004955523:1,010,976...1,021,144 		JBrowse link
G Rbbp8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chrNW_004955402:11,245,857...11,331,872
Ensembl chrNW_004955402:11,245,819...11,335,367 		JBrowse link
G Riok3 RIO kinase 3 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chrNW_004955402:11,649,160...11,670,010
Ensembl chrNW_004955402:11,648,849...11,672,545 		JBrowse link
G Rmc1 regulator of MON1-CCZ1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:25741868 PMID:28492532 NCBI chrNW_004955402:11,676,883...11,699,715
Ensembl chrNW_004955402:11,676,671...11,699,709 		JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:12369017 PMID:15221801 PMID:25741868 PMID:26499107 PMID:27243974 More... NCBI chrNW_004955414:22,117,929...22,121,744
Ensembl chrNW_004955414:22,117,930...22,121,744 		JBrowse link
G Snrpd1 small nuclear ribonucleoprotein D1 polypeptide ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chrNW_004955402:10,283,970...10,294,869
Ensembl chrNW_004955402:10,283,970...10,296,495 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment ISO RGD PMID:21176403 RGD:10403054 NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687 		JBrowse link
G Syndig1l synapse differentiation inducing 1 like ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:25741868 NCBI chrNW_004955523:1,092,463...1,095,567
Ensembl chrNW_004955523:1,091,744...1,095,652 		JBrowse link
G Tmem241 transmembrane protein 241 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chrNW_004955402:11,514,232...11,641,494
Ensembl chrNW_004955402:11,530,611...11,641,687 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14337
    Nutritional and Metabolic Diseases 6993
      disease of metabolism 6993
        lipid metabolism disorder 1629
          lipid storage disease 757
            sphingolipidosis 146
              Niemann-Pick disease 23
                Niemann-Pick disease type C1 22
Path 2
Term Annotations click to browse term
  disease 14337
    disease of anatomical entity 14030
      nervous system disease 12351
        central nervous system disease 11076
          brain disease 10393
            Metabolic Brain Diseases 1388
              Metabolic Brain Diseases, Inborn 1269
                Lysosomal Storage Diseases, Nervous System 173
                  sphingolipidosis 146
                    Niemann-Pick disease 23
                      Niemann-Pick disease type C1 22
paths to the root