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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 chr18:58,795,497...58,842,714
Ensembl chr18:58,795,865...58,842,824 		JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase treatment ISO RGD PMID:18591368 RGD:10047095 NCBI chr12:7,258,932...7,435,658
Ensembl chr12:7,256,648...7,312,734 		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 chr24:52,267,734...52,283,724 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 chr18:56,879,788...56,943,189
Ensembl chr18:56,880,636...56,944,306 		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 chr18:57,253,843...57,378,969
Ensembl chr18:57,257,081...57,378,855 		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 chr10:74,509,704...74,659,251
Ensembl chr10:74,507,772...74,659,366 		JBrowse link
G CTAGE1 cutaneous T cell lymphoma-associated antigen 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:58,092,734...58,100,018
Ensembl chr18:58,093,110...58,099,989 		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 chr18:58,887,158...58,957,605
Ensembl chr18:58,900,663...58,956,545 		JBrowse link
G GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:58,312,328...58,345,472
Ensembl chr18:58,311,482...58,343,746 		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 chr18:58,960,397...59,104,188
Ensembl chr18:58,963,914...59,103,993 		JBrowse link
G JAK2 Janus kinase 2 treatment ISO RGD PMID:21176403 RGD:10403054 NCBI chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710 		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 chr18:56,580,245...56,851,381
Ensembl chr18:56,580,700...56,850,451 		JBrowse link
G LIPA lipase A, lysosomal acid type ISO CTD Direct Evidence: therapeutic CTD PMID:20557099 NCBI chr 9:82,639,220...82,677,479
Ensembl chr 9:82,638,621...82,677,488 		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 chr18:58,628,381...58,759,692
Ensembl chr18:58,633,926...58,759,609 		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, 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
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		 OMIM
ClinVar		 PMID:3165081 PMID:3378364 PMID:4795418 PMID:5465421 PMID:9211849 More... NCBI chr18:56,956,557...57,007,951
Ensembl chr18:56,956,174...57,007,474 		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 chr24:51,685,699...51,700,557
Ensembl chr24:51,685,609...51,700,557 		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 chr18:57,501,070...57,617,301
Ensembl chr18:57,501,271...57,597,670 		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 chr18:57,048,500...57,078,770
Ensembl chr18:57,048,447...57,078,312 		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 chr18:57,007,889...57,036,438
Ensembl chr18:57,007,974...57,036,231 		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 chr 1:58,431,677...58,436,233
Ensembl chr 1:58,432,068...58,436,236 		JBrowse link
G SNRPD1 small nuclear ribonucleoprotein D1 polypeptide ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:58,860,447...58,876,216
Ensembl chr18:58,858,822...58,876,198 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 treatment ISO RGD PMID:21176403 RGD:10403054 NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984 		JBrowse link
G SYNDIG1L synapse differentiation inducing 1 like ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:25741868 NCBI chr24:51,617,631...51,638,382
Ensembl chr24:51,617,437...51,638,659 		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 chr18:57,088,629...57,238,430
Ensembl chr18:57,088,994...57,171,912 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15416
    Nutritional and Metabolic Diseases 7386
      disease of metabolism 7386
        lipid metabolism disorder 1710
          lipid storage disease 803
            sphingolipidosis 153
              Niemann-Pick disease 26
                Niemann-Pick disease type C1 24
Path 2
Term Annotations click to browse term
  disease 15416
    disease of anatomical entity 15079
      nervous system disease 13232
        central nervous system disease 11823
          brain disease 11092
            Metabolic Brain Diseases 1490
              Metabolic Brain Diseases, Inborn 1357
                Lysosomal Storage Diseases, Nervous System 185
                  sphingolipidosis 153
                    Niemann-Pick disease 26
                      Niemann-Pick disease type C1 24
paths to the root