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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 IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:21,650,901...21,704,774
Ensembl chr18:21,650,901...21,704,780 		JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase treatment ISO RGD PMID:18591368 RGD:10047095 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675 		JBrowse link
G ACYP1 acylphosphatase 1 IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:23352160 PMID:23773996 PMID:24386122 PMID:24767253 PMID:25741868 More... NCBI chr14:75,053,243...75,069,490
Ensembl chr14:75,053,237...75,069,483 		JBrowse link
G ANKRD29 ankyrin repeat domain 29 IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chr18:23,598,926...23,662,911
Ensembl chr18:23,598,926...23,662,911 		JBrowse link
G CABLES1 Cdk5 and Abl enzyme substrate 1 IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chr18:23,134,564...23,260,470
Ensembl chr18:23,134,564...23,260,470 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP ClinVar Annotator: match by term: NIEMANN-PICK DISEASE, CHRONIC NEURONOPATHIC FORM ClinVar PMID:25326637 PMID:28492532 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G CTAGE1 cutaneous T cell lymphoma-associated antigen 1 IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:22,413,599...22,417,915
Ensembl chr18:22,413,599...22,417,915 		JBrowse link
G ESCO1 establishment of sister chromatid cohesion N-acetyltransferase 1 IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:21,529,284...21,600,704
Ensembl chr18:21,529,281...21,600,884 		JBrowse link
G GATA6 GATA binding protein 6 IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G GREB1L GREB1 like retinoic acid receptor coactivator IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:21,242,232...21,526,112
Ensembl chr18:21,242,232...21,526,112 		JBrowse link
G JAK2 Janus kinase 2 treatment ISO RGD PMID:21176403 RGD:10403054 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G LAMA3 laminin subunit alpha 3 IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222 		JBrowse link
G LIPA lipase A, lysosomal acid type EXP CTD Direct Evidence: therapeutic CTD PMID:20557099 NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557 		JBrowse link
G LOC130056094 ATAC-STARR-seq lymphoblastoid silent region 5931 IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C ClinVar NCBI chr14:74,493,288...74,493,567 JBrowse link
G MIB1 MIB E3 ubiquitin protein ligase 1 IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:21,704,916...21,870,953
Ensembl chr18:21,704,957...21,870,953 		JBrowse link
G MIR1-2 microRNA 1-2 IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:21,829,004...21,829,088
Ensembl chr18:21,829,004...21,829,088 		JBrowse link
G MIR133A1 microRNA 133a-1 IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:21,825,698...21,825,785
Ensembl chr18:21,825,698...21,825,785 		JBrowse link
G MIR4709 microRNA 4709 IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar NCBI chr14:74,480,133...74,480,204
Ensembl chr14:74,480,133...74,480,204 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Niemann-Pick disease, type C1
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:257220
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:3165081 PMID:3378364 PMID:4795418 PMID:5465421 PMID:9211849 More... NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506 		JBrowse link
G NPC2 NPC intracellular cholesterol transporter 2 IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C
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 chr14:74,479,935...74,493,512
Ensembl chr14:74,476,192...74,494,177 		JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488 		JBrowse link
G RIOK3 RIO kinase 3 IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chr18:23,453,287...23,483,140
Ensembl chr18:23,453,287...23,486,603 		JBrowse link
G RMC1 regulator of MON1-CCZ1 IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C1
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 chr18:23,503,470...23,531,822
Ensembl chr18:23,503,496...23,531,822 		JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:12369017 PMID:15221801 PMID:25741868 PMID:26499107 PMID:27243974 More... NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998 		JBrowse link
G SNRPD1 small nuclear ribonucleoprotein D1 polypeptide IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:21,612,314...21,633,520
Ensembl chr18:21,612,314...21,633,524 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 treatment ISO RGD PMID:21176403 RGD:10403054 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G SYNDIG1L synapse differentiation inducing 1 like IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:25741868 NCBI chr14:74,405,899...74,480,143
Ensembl chr14:74,405,894...74,426,210 		JBrowse link
G TMEM241 transmembrane protein 241 IAGP ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chr18:23,238,522...23,437,961
Ensembl chr18:23,197,144...23,437,961 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 147117
    Nutritional and Metabolic Diseases 26998
      disease of metabolism 26998
        lipid metabolism disorder 2788
          lipid storage disease 1201
            sphingolipidosis 182
              Niemann-Pick disease 31
                Niemann-Pick disease type C1 28
Path 2
Term Annotations click to browse term
  disease 147117
    disease of anatomical entity 134156
      nervous system disease 71651
        central nervous system disease 51558
          brain disease 48865
            Metabolic Brain Diseases 1892
              Metabolic Brain Diseases, Inborn 1722
                Lysosomal Storage Diseases, Nervous System 236
                  sphingolipidosis 182
                    Niemann-Pick disease 31
                      Niemann-Pick disease type C1 28
paths to the root